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MIA2 MIA SH3 domain ER export factor 2 [ Homo sapiens (human) ]

Gene ID: 4253, updated on 3-Nov-2024

Summary

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Official Symbol
MIA2provided by HGNC
Official Full Name
MIA SH3 domain ER export factor 2provided by HGNC
Primary source
HGNC:HGNC:18432
See related
Ensembl:ENSG00000150527 MIM:602132; AllianceGenome:HGNC:18432
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MEA6; MGEA; TALI; MGEA6; CTAGE5; MGEA11
Summary
This gene encodes s receptor in the endoplasmic reticulum, which plays a role in the export of large pre-chylomicrons and pre-very low density lipoproteins (pre-VLDLs). Three major classes of transcripts are generated from this gene- melanoma inhibitory activity 2-specific transcripts, cTAGE family member 5-specific transcripts and transcripts that include exons from both these transcript species (TANGO1-like or TALI). Additionally, alternative splicing in these transcripts results in multiple transcript variants encoding multiple isoforms. [provided by RefSeq, Sep 2016]
Expression
Ubiquitous expression in small intestine (RPKM 22.6), duodenum (RPKM 22.5) and 25 other tissues See more
Orthologs
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Genomic context

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See MIA2 in Genome Data Viewer
Location:
14q21.1
Exon count:
38
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (39233915..39388522)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (33422576..33577145)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (39703119..39857726)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene transmembrane protein 92 pseudogene Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:39672946-39674145 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8289 Neighboring gene YTH domain family member 2 pseudogene 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:39735794-39736376 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:39736377-39736957 Neighboring gene MIA2 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:39839799-39840298 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:39839297-39839798 Neighboring gene GLRX5 pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5689 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5690 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8290 Neighboring gene uncharacterized LOC105370461 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5691 Neighboring gene coilin pseudogene 1 Neighboring gene F-box protein 33 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8291 Neighboring gene uncharacterized LOC105370460 Neighboring gene uncharacterized LOC112267899

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. cDNA cloning and chromosomal mapping of a predicted coiled-coil proline-rich protein immunogenic in meningioma patients. Heckel D, et al. Hum Mol Genet, 1997 Nov. PMID 9356211
  2. A common genetic variation of melanoma inhibitory activity-2 labels a subtype of pancreatic adenocarcinoma with high endoplasmic reticulum stress levels. Kong B, et al. Sci Rep, 2015 Feb 6. PMID 25657029, Free PMC Article
  3. The MGEA6 multigene family has an active locus on 14q and at least nine pseudogenes on different chromosomes. Comtesse N, et al. Genomics, 2001 Jul. PMID 11472066
  4. MGEA6 is tumor-specific overexpressed and frequently recognized by patient-serum antibodies. Comtesse N, et al. Oncogene, 2002 Jan 10. PMID 11803467
  5. Protumoral roles of melanoma inhibitory activity 2 in oral squamous cell carcinoma. Kurihara M, et al. Br J Cancer, 2013 Apr 16. PMID 23511560, Free PMC Article

See all (75) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. These data showed that the NRZ tether is required for TANGO1 to assemble into a ring and indicated that stable complexes of TANGO1, cTAGE5 and TANGO1-short, recruit the tether.
    Title: TANGO1 builds a machine for collagen export by recruiting and spatially organizing COPII, tethers and membranes.
  2. TANGO1/CTAGE5 receptor serves as a polyvalent template for assembly of large COPII coats.
    Title: TANGO1/cTAGE5 receptor as a polyvalent template for assembly of large COPII coats.
  3. In this study, we identified specific and critical residues in the Sec12-binding region of cTAGE5 (E75A K76A, K89A, and S97A) and confirmed that cTAGE5-mediated Sec12 accumulation at ER exit sites is required for collagen VII secretion.
    Title: Dual function of cTAGE5 in collagen export from the endoplasmic reticulum.
  4. Data indicate that MIA2 represents a potential novel acute phase protein and MIA2 expression responds to liver damage in chronic liver diseases.
    Title: Specific expression and regulation of the new melanoma inhibitory activity-related gene MIA2 in hepatocytes.
  5. 22 members of an Iranian family with basal ganglia calfication as well as 100 controls were genotyped for the C>G P521A variant of CTAGE5, but none were found.
    Title: Analysis of the CTAGE5 P521A variation with the risk of familial idiopathic basal ganglia calcification in an Iranian population.
  6. Findings suggest that the roles of MIA2 might be based on the variety of the integrins and the subtypes of mitogen-activated protein kinase in oral carcinoma.
    Title: Protumoral roles of melanoma inhibitory activity 2 in oral squamous cell carcinoma.
  7. population and bioinformatic analysis of MGEA6 P521A variation as a risk factor for Fahr's disease; genetic screen data show this mutation is very rare; bioinformatics analysis provided conflicting findings
    Title: Population and computational analysis of the MGEA6 P521A variation as a risk factor for familial idiopathic basal ganglia calcification (Fahr's disease).
  8. HBx activates hepatoma cell growth and proliferation through repression of the potential tumor suppressor MIA2.
    Title: The X protein of hepatitis B virus activates hepatoma cell proliferation through repressing melanoma inhibitory activity 2 gene.
  9. These findings define an interaction between the common MIA2(I141M) variant and the ER stress/UPR system and specify a subgroup of PDAC patients who are more likely to benefit from adjuvant chemotherapy.
    Title: A common genetic variation of melanoma inhibitory activity-2 labels a subtype of pancreatic adenocarcinoma with high endoplasmic reticulum stress levels.
  10. Sec12 recruitment to endoplasmic reticulum exit sites is organized by its direct interaction with cTAGE5, a previously characterized collagen cargo receptor component, which functions together with TANGO1 at endoplasmic reticulum exit sites.
    Title: Concentration of Sec12 at ER exit sites via interaction with cTAGE5 is required for collagen export.
Submit: New GeneRIF Correction See all GeneRIFs (12)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ22404, FLJ31229, FLJ33933, FLJ55352, FLJ94735, FLJ96258, MGC59810, MGC75562, MGC163409, MGC163435, DKFZp313K0722, DKFZp686F2453, DKFZp686M2159, DKFZp779J1922, DKFZp779M1842, DKFZp686F08252

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cargo receptor activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables enzyme activator activity TAS
Traceable Author Statement
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in endoplasmic reticulum to Golgi vesicle-mediated transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in endoplasmic reticulum to Golgi vesicle-mediated transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in lipoprotein transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein exit from endoplasmic reticulum IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein localization to endoplasmic reticulum exit site IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein secretion IBA
Inferred from Biological aspect of Ancestor
more info
  
NOT involved_in regulation of guanyl-nucleotide exchange factor activity IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in vesicle cargo loading IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in vesicle cargo loading IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
  
is_active_in endoplasmic reticulum exit site IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum exit site IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
  
located_in membrane HDA PubMed 

General protein information

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Preferred Names
melanoma inhibitory activity protein 2
Names
CTAGE family member 5, ER export factor
CTAGE family, member 5
MIA protein 2
TANGO1-like
cutaneous T-cell lymphoma-associated antigen 5
melanoma inhibitory activity 2
meningioma expressed antigen 6 (coiled-coil proline-rich)
meningioma-expressed antigen 6/11
protein cTAGE-5

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_030349.3 RefSeqGene

    Range
    4995..121774
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001247988.1 → NP_001234917.1  melanoma inhibitory activity protein 2 isoform 5

    See identical proteins and their annotated locations for NP_001234917.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and coding sequence, lacks an alternate in-frame exon, and uses an alternate in-frame splice junction at the 3' end of an exon compared to variant 6. It encodes isoform 5, which is shorter at the N-terminus and lacks two internal segments compared to isoform 6. Variants 5 and 12 both encode the same isoform (5).
    Source sequence(s)
    AF338233, AI521895, AK091252, AL132639, AL833415
    UniProtKB/TrEMBL
    Q59FD2
    Conserved Domains (1) summary
    cl25732
    Location:45 → 470
    SMC_N; RecF/RecN/SMC N terminal domain

  2. NM_001247989.2 → NP_001234918.1  melanoma inhibitory activity protein 2 isoform 6

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) represents the longest transcript and encodes the longest isoform (6, also known as TALI).
    Source sequence(s)
    AI521895, AL132639, BC064355, CV809109
    Consensus CDS
    CCDS58316.1
    UniProtKB/TrEMBL
    Q59FD2
    Related
    ENSP00000379462.2, ENST00000396158.6
    Conserved Domains (4) summary
    pfam06409
    Location:403 → 476
    NPIP; Nuclear pore complex interacting protein (NPIP)
    pfam10211
    Location:164 → 230
    Ax_dynein_light; Axonemal dynein light chain
    pfam14662
    Location:325 → 496
    KASH_CCD; Coiled-coil region of CCDC155 or KASH
    pfam15233
    Location:350 → 448
    SYCE1; Synaptonemal complex central element protein 1

  3. NM_001247990.2 → NP_001234919.1  melanoma inhibitory activity protein 2 isoform 7

    See identical proteins and their annotated locations for NP_001234919.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) lacks a portion of the 5' coding region and initiates translation at a downstream start codon compared to variant 6. The resulting isoform (7) is shorter at the N-terminus compared to isoform 6.
    Source sequence(s)
    AI521895, AL132639, BC051363, CV809109
    Consensus CDS
    CCDS58317.1
    UniProtKB/TrEMBL
    Q59FD2
    Related
    ENSP00000452562.1, ENST00000556148.5
    Conserved Domains (1) summary
    cl25732
    Location:2 → 424
    SMC_N; RecF/RecN/SMC N terminal domain

  4. NM_001329214.4 → NP_001316143.1  melanoma inhibitory activity protein 2 isoform 8 precursor

    Status: REVIEWED

    Source sequence(s)
    AL132639
    Consensus CDS
    CCDS86384.1
    UniProtKB/Swiss-Prot
    A0A193H6U5, A1L4H0, B3KRA6, B4DQS6, D3DSA6, G3XAC5, O00169, O15320, Q6MZN2, Q6P2R8, Q86TF6, Q8IX92, Q8IX93, Q96PC5, Q9H6C1
    UniProtKB/TrEMBL
    G3V599
    Related
    ENSP00000491014.1, ENST00000640607.2

  5. NM_001354137.2 → NP_001341066.1  melanoma inhibitory activity protein 2 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10), as well as variants 4 and 11, encodes isoform 4.
    Source sequence(s)
    AL132639
    Consensus CDS
    CCDS9676.1
    UniProtKB/TrEMBL
    Q59FD2
    Conserved Domains (1) summary
    cl25732
    Location:45 → 470
    SMC_N; RecF/RecN/SMC N terminal domain

  6. NM_001354138.1 → NP_001341067.1  melanoma inhibitory activity protein 2 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (11), as well as variants 4 and 10, encodes isoform 4.
    Source sequence(s)
    AL132639
    Consensus CDS
    CCDS9676.1
    UniProtKB/TrEMBL
    Q59FD2
    Related
    ENSP00000450449.1, ENST00000553352.1
    Conserved Domains (1) summary
    cl25732
    Location:45 → 470
    SMC_N; RecF/RecN/SMC N terminal domain

  7. NM_001354139.2 → NP_001341068.1  melanoma inhibitory activity protein 2 isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (12), as well as variant 5, encodes isoform 5.
    Source sequence(s)
    AL132639
    UniProtKB/TrEMBL
    Q59FD2
    Conserved Domains (1) summary
    cl25732
    Location:45 → 470
    SMC_N; RecF/RecN/SMC N terminal domain

  8. NM_001354140.2 → NP_001341069.1  melanoma inhibitory activity protein 2 isoform 10

    Status: REVIEWED

    Description
    Transcript Variant: This variant (13), as well as variant 14, encodes isoform 10.
    Source sequence(s)
    AL132639
    Consensus CDS
    CCDS86386.1
    UniProtKB/TrEMBL
    Q59FD2
    Related
    ENSP00000450869.1, ENST00000557038.5
    Conserved Domains (1) summary
    cl25732
    Location:87 → 380
    SMC_N; RecF/RecN/SMC N terminal domain

  9. NM_001354141.2 → NP_001341070.1  melanoma inhibitory activity protein 2 isoform 10

    Status: REVIEWED

    Description
    Transcript Variant: This variant (14), as well as variant 13, encodes isoform 10.
    Source sequence(s)
    AL132639
    Consensus CDS
    CCDS86386.1
    UniProtKB/TrEMBL
    Q59FD2
    Conserved Domains (1) summary
    cl25732
    Location:87 → 380
    SMC_N; RecF/RecN/SMC N terminal domain

  10. NM_001354142.1 → NP_001341071.1  melanoma inhibitory activity protein 2 isoform 11

    Status: REVIEWED

    Description
    Transcript Variant: This variant (15), as well as variants 16 and 17, encodes isoform 11.
    Source sequence(s)
    AL132639
    UniProtKB/TrEMBL
    Q59FD2
    Conserved Domains (1) summary
    cl25732
    Location:87 → 380
    SMC_N; RecF/RecN/SMC N terminal domain

  11. NM_001354143.1 → NP_001341072.1  melanoma inhibitory activity protein 2 isoform 11

    Status: REVIEWED

    Description
    Transcript Variant: This variant (16), as well as variants 15 and 17, encodes isoform 11.
    Source sequence(s)
    AL132639
    UniProtKB/TrEMBL
    Q59FD2
    Conserved Domains (1) summary
    cl25732
    Location:87 → 380
    SMC_N; RecF/RecN/SMC N terminal domain

  12. NM_001354144.2 → NP_001341073.1  melanoma inhibitory activity protein 2 isoform 11

    Status: REVIEWED

    Description
    Transcript Variant: This variant (17), as well as variants 15 and 16, encodes isoform 11.
    Source sequence(s)
    AL132639
    UniProtKB/TrEMBL
    Q59FD2
    Conserved Domains (1) summary
    cl25732
    Location:87 → 380
    SMC_N; RecF/RecN/SMC N terminal domain

  13. NM_001354145.2 → NP_001341074.1  melanoma inhibitory activity protein 2 isoform 12

    Status: REVIEWED

    Source sequence(s)
    AL132639, AL157791
    Conserved Domains (1) summary
    cl25732
    Location:87 → 380
    SMC_N; RecF/RecN/SMC N terminal domain

  14. NM_001354146.2 → NP_001341075.1  melanoma inhibitory activity protein 2 isoform 13

    Status: REVIEWED

    Source sequence(s)
    AL132639
    UniProtKB/TrEMBL
    Q59FD2
    Conserved Domains (1) summary
    cl25732
    Location:62 → 487
    SMC_N; RecF/RecN/SMC N terminal domain

  15. NM_001354147.1 → NP_001341076.1  melanoma inhibitory activity protein 2 isoform 14

    Status: REVIEWED

    Source sequence(s)
    AL132639
    UniProtKB/TrEMBL
    Q59FD2
    Conserved Domains (1) summary
    cl25732
    Location:112 → 405
    SMC_N; RecF/RecN/SMC N terminal domain

  16. NM_001354148.1 → NP_001341077.1  melanoma inhibitory activity protein 2 isoform 15

    Status: REVIEWED

    Source sequence(s)
    AL132639, AL157791
    UniProtKB/TrEMBL
    Q59FD2
    Conserved Domains (1) summary
    cl25732
    Location:45 → 470
    SMC_N; RecF/RecN/SMC N terminal domain

  17. NM_001354149.1 → NP_001341078.1  melanoma inhibitory activity protein 2 isoform 16

    Status: REVIEWED

    Source sequence(s)
    AL132639
    UniProtKB/TrEMBL
    Q59FD2
    Conserved Domains (1) summary
    cl25732
    Location:112 → 405
    SMC_N; RecF/RecN/SMC N terminal domain

  18. NM_001354150.2 → NP_001341079.1  melanoma inhibitory activity protein 2 isoform 17

    Status: REVIEWED

    Source sequence(s)
    AL132639
    UniProtKB/TrEMBL
    Q59FD2
    Conserved Domains (1) summary
    cl25732
    Location:68 → 493
    SMC_N; RecF/RecN/SMC N terminal domain

  19. NM_001354151.2 → NP_001341080.1  melanoma inhibitory activity protein 2 isoform 18

    Status: REVIEWED

    Source sequence(s)
    AL132639
    UniProtKB/TrEMBL
    Q59FD2
    Conserved Domains (1) summary
    cl25732
    Location:74 → 508
    SMC_N; RecF/RecN/SMC N terminal domain

  20. NM_001354152.3 → NP_001341081.1  melanoma inhibitory activity protein 2 isoform 19

    Status: REVIEWED

    Source sequence(s)
    AL132639
    UniProtKB/TrEMBL
    Q59FD2
    Conserved Domains (1) summary
    cl25732
    Location:74 → 508
    SMC_N; RecF/RecN/SMC N terminal domain

  21. NM_001354153.2 → NP_001341082.1  melanoma inhibitory activity protein 2 isoform 20

    Status: REVIEWED

    Source sequence(s)
    AL132639
    UniProtKB/TrEMBL
    Q59FD2
    Conserved Domains (1) summary
    cl25732
    Location:141 → 434
    SMC_N; RecF/RecN/SMC N terminal domain

  22. NM_001354154.2 → NP_001341083.1  melanoma inhibitory activity protein 2 isoform 21

    Status: REVIEWED

    Source sequence(s)
    AL132639, AL157791
    Consensus CDS
    CCDS86385.1
    UniProtKB/TrEMBL
    Q59FD2
    Related
    ENSP00000339286.5, ENST00000341502.9
    Conserved Domains (1) summary
    cl25732
    Location:74 → 499
    SMC_N; RecF/RecN/SMC N terminal domain

  23. NM_001354155.2 → NP_001341084.1  melanoma inhibitory activity protein 2 isoform 22

    Status: REVIEWED

    Source sequence(s)
    AL132639, AL157791
    UniProtKB/TrEMBL
    Q59FD2
    Conserved Domains (1) summary
    cl25732
    Location:74 → 499
    SMC_N; RecF/RecN/SMC N terminal domain

  24. NM_001354156.2 → NP_001341085.1  melanoma inhibitory activity protein 2 isoform 23

    Status: REVIEWED

    Source sequence(s)
    AL132639
    UniProtKB/TrEMBL
    Q59FD2
    Conserved Domains (1) summary
    cl25732
    Location:1 → 338
    SMC_N; RecF/RecN/SMC N terminal domain

  25. NM_001354157.2 → NP_001341086.1  melanoma inhibitory activity protein 2 isoform 24

    Status: REVIEWED

    Source sequence(s)
    AL132639
    UniProtKB/TrEMBL
    Q59FD2
    Conserved Domains (1) summary
    cl25732
    Location:141 → 434
    SMC_N; RecF/RecN/SMC N terminal domain

  26. NM_005930.4 → NP_005921.2  melanoma inhibitory activity protein 2 isoform 1

    See identical proteins and their annotated locations for NP_005921.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) uses an alternate in-frame splice junction at the 3' end of an exon compared to variant 6. It encodes isoform 1, which lacks an internal segment compared to isoform 6.
    Source sequence(s)
    AB209528, AL132639, CV809109, U94780
    Consensus CDS
    CCDS9674.1
    UniProtKB/TrEMBL
    Q59FD2
    Related
    ENSP00000280083.3, ENST00000280083.7
    Conserved Domains (4) summary
    pfam06409
    Location:398 → 471
    NPIP; Nuclear pore complex interacting protein (NPIP)
    pfam10211
    Location:159 → 225
    Ax_dynein_light; Axonemal dynein light chain
    pfam14662
    Location:320 → 491
    KASH_CCD; Coiled-coil region of CCDC155 or KASH
    pfam15233
    Location:345 → 443
    SYCE1; Synaptonemal complex central element protein 1

  27. NM_054024.4 → NP_473365.3  melanoma inhibitory activity protein 2 isoform 9 precursor

    See identical proteins and their annotated locations for NP_473365.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) has lacks several 3' exons and differs in the 3' coding region and 3' UTR, compared to variant 6. It encodes isoform 8, which has a shorter and distinct C-terminus, compared to isoform 6.
    Source sequence(s)
    AF390175, AK026057, AL132639, BX495701, BX648228
    Consensus CDS
    CCDS9672.1
    UniProtKB/Swiss-Prot
    Q96PC5
    Related
    ENSP00000280082.3, ENST00000280082.4
    Conserved Domains (1) summary
    cd11892
    Location:31 → 103
    SH3_MIA2; Src Homology 3 domain of Melanoma Inhibitory Activity 2 protein

  28. NM_203354.3 → NP_976229.1  melanoma inhibitory activity protein 2 isoform 2

    See identical proteins and their annotated locations for NP_976229.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence and uses an alternate in-frame splice junction at the 3' end of an exon compared to variant 6. It encodes isoform 2, which has a shorter and distinct N-terminus and lacks an internal segment compared to isoform 6.
    Source sequence(s)
    AB209528, AL132639, DA072098
    Consensus CDS
    CCDS9673.1
    UniProtKB/TrEMBL
    Q59FD2
    Related
    ENSP00000343897.3, ENST00000341749.7
    Conserved Domains (3) summary
    pfam06409
    Location:386 → 459
    NPIP; Nuclear pore complex interacting protein (NPIP)
    pfam10211
    Location:147 → 213
    Ax_dynein_light; Axonemal dynein light chain
    pfam15233
    Location:333 → 431
    SYCE1; Synaptonemal complex central element protein 1

  29. NM_203355.3 → NP_976230.1  melanoma inhibitory activity protein 2 isoform 3

    See identical proteins and their annotated locations for NP_976230.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon and uses an alternate in-frame splice junction at the 3' end of an exon compared to variant 6. It encodes isoform 3, which lacks two internal segments and is shorter, compared to isoform 6.
    Source sequence(s)
    AL132639, BC029513, CV809109
    Consensus CDS
    CCDS9675.1
    UniProtKB/TrEMBL
    Q59FD2
    Related
    ENSP00000343912.3, ENST00000348007.7
    Conserved Domains (4) summary
    pfam06409
    Location:398 → 471
    NPIP; Nuclear pore complex interacting protein (NPIP)
    pfam10211
    Location:159 → 225
    Ax_dynein_light; Axonemal dynein light chain
    pfam14662
    Location:320 → 491
    KASH_CCD; Coiled-coil region of CCDC155 or KASH
    pfam15233
    Location:345 → 443
    SYCE1; Synaptonemal complex central element protein 1

  30. NM_203356.2 → NP_976231.1  melanoma inhibitory activity protein 2 isoform 4

    See identical proteins and their annotated locations for NP_976231.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence, initiates translation at a downstream start codon, and uses an alternate in-frame splice junction at the 3' end of an exon compared to variant 6. It encodes isoform 4, which is shorter at the N-terminus and lacks an internal segment compared to isoform 6. Unlike the other variants, this variant may exhibit testis-specific expression. Variants 4, 10, and 11 all encode the same isoform (4).
    Source sequence(s)
    AF338233, AL132639
    Consensus CDS
    CCDS9676.1
    UniProtKB/TrEMBL
    Q59FD2
    Related
    ENSP00000379468.4, ENST00000396165.8
    Conserved Domains (1) summary
    cl25732
    Location:45 → 470
    SMC_N; RecF/RecN/SMC N terminal domain

RNA

  1. NR_148721.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL132639

  2. NR_148722.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL132639

  3. NR_148723.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL132639

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    39233915..39388522
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024449592.2 → XP_024305360.1  melanoma inhibitory activity protein 2 isoform X1

    UniProtKB/TrEMBL
    G3V599
    Conserved Domains (2) summary
    cd11892
    Location:31 → 103
    SH3_MIA2; Src Homology 3 domain of Melanoma Inhibitory Activity 2 protein
    COG0419
    Location:682 → 1121
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]

  2. XM_024449595.2 → XP_024305363.1  melanoma inhibitory activity protein 2 isoform X4

    UniProtKB/TrEMBL
    G3V599
    Conserved Domains (2) summary
    cd11892
    Location:31 → 103
    SH3_MIA2; Src Homology 3 domain of Melanoma Inhibitory Activity 2 protein
    COG0419
    Location:682 → 1121
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]

  3. XM_024449594.2 → XP_024305362.1  melanoma inhibitory activity protein 2 isoform X3

    UniProtKB/TrEMBL
    G3V599
    Conserved Domains (2) summary
    cd11892
    Location:31 → 103
    SH3_MIA2; Src Homology 3 domain of Melanoma Inhibitory Activity 2 protein
    COG0419
    Location:682 → 1112
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]

  4. XM_047431398.1 → XP_047287354.1  melanoma inhibitory activity protein 2 isoform X5

  5. XM_024449593.2 → XP_024305361.1  melanoma inhibitory activity protein 2 isoform X2

    UniProtKB/TrEMBL
    G3V599
    Conserved Domains (2) summary
    cd11892
    Location:31 → 103
    SH3_MIA2; Src Homology 3 domain of Melanoma Inhibitory Activity 2 protein
    COG0419
    Location:682 → 1116
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]

  6. XM_024449596.2 → XP_024305364.1  melanoma inhibitory activity protein 2 isoform X6

    UniProtKB/TrEMBL
    G3V599
    Conserved Domains (2) summary
    cd11892
    Location:31 → 103
    SH3_MIA2; Src Homology 3 domain of Melanoma Inhibitory Activity 2 protein
    COG0419
    Location:682 → 1107
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]

  7. XM_047431399.1 → XP_047287355.1  melanoma inhibitory activity protein 2 isoform X7

  8. XM_024449597.2 → XP_024305365.1  melanoma inhibitory activity protein 2 isoform X8

    UniProtKB/TrEMBL
    G3V599
    Conserved Domains (2) summary
    cd11892
    Location:31 → 103
    SH3_MIA2; Src Homology 3 domain of Melanoma Inhibitory Activity 2 protein
    COG0419
    Location:682 → 1121
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]

  9. XM_047431401.1 → XP_047287357.1  melanoma inhibitory activity protein 2 isoform X9

  10. XM_047431402.1 → XP_047287358.1  melanoma inhibitory activity protein 2 isoform X10

  11. XM_017021316.2 → XP_016876805.1  melanoma inhibitory activity protein 2 isoform X13

    UniProtKB/TrEMBL
    Q59FD2

  12. XM_047431403.1 → XP_047287359.1  melanoma inhibitory activity protein 2 isoform X15

  13. XM_047431409.1 → XP_047287365.1  melanoma inhibitory activity protein 2 isoform X21

  14. XM_011536778.3 → XP_011535080.1  melanoma inhibitory activity protein 2 isoform X14

    UniProtKB/TrEMBL
    Q59FD2
    Conserved Domains (3) summary
    pfam06409
    Location:395 → 468
    NPIP; Nuclear pore complex interacting protein (NPIP)
    pfam10211
    Location:156 → 222
    Ax_dynein_light; Axonemal dynein light chain
    pfam15233
    Location:342 → 440
    SYCE1; Synaptonemal complex central element protein 1

  15. XM_017021324.3 → XP_016876813.1  melanoma inhibitory activity protein 2 isoform X22

    UniProtKB/TrEMBL
    Q59FD2
    Conserved Domains (1) summary
    cl25732
    Location:5 → 433
    SMC_N; RecF/RecN/SMC N terminal domain

  16. XM_017021317.3 → XP_016876806.1  melanoma inhibitory activity protein 2 isoform X16

    UniProtKB/TrEMBL
    Q59FD2

  17. XM_024449598.2 → XP_024305366.1  melanoma inhibitory activity protein 2 isoform X22

    UniProtKB/TrEMBL
    Q59FD2
    Conserved Domains (1) summary
    cl25732
    Location:5 → 433
    SMC_N; RecF/RecN/SMC N terminal domain

  18. XM_017021330.2 → XP_016876819.1  melanoma inhibitory activity protein 2 isoform X16

    UniProtKB/TrEMBL
    Q59FD2

  19. XM_017021315.3 → XP_016876804.1  melanoma inhibitory activity protein 2 isoform X12

    UniProtKB/TrEMBL
    Q59FD2

  20. XM_047431408.1 → XP_047287364.1  melanoma inhibitory activity protein 2 isoform X20

  21. XM_017021318.2 → XP_016876807.1  melanoma inhibitory activity protein 2 isoform X16

    UniProtKB/TrEMBL
    Q59FD2

  22. XM_017021319.2 → XP_016876808.1  melanoma inhibitory activity protein 2 isoform X16

    UniProtKB/TrEMBL
    Q59FD2

  23. XM_047431406.1 → XP_047287362.1  melanoma inhibitory activity protein 2 isoform X18

  24. XM_047431405.1 → XP_047287361.1  melanoma inhibitory activity protein 2 isoform X17

  25. XM_047431411.1 → XP_047287367.1  melanoma inhibitory activity protein 2 isoform X23

  26. XM_047431410.1 → XP_047287366.1  melanoma inhibitory activity protein 2 isoform X22

  27. XM_017021314.2 → XP_016876803.1  melanoma inhibitory activity protein 2 isoform X11

    UniProtKB/TrEMBL
    Q59FD2

  28. XM_047431407.1 → XP_047287363.1  melanoma inhibitory activity protein 2 isoform X19

  29. XM_017021323.2 → XP_016876812.1  melanoma inhibitory activity protein 2 isoform X22

    UniProtKB/TrEMBL
    Q59FD2
    Conserved Domains (1) summary
    cl25732
    Location:5 → 433
    SMC_N; RecF/RecN/SMC N terminal domain

  30. XM_047431412.1 → XP_047287368.1  melanoma inhibitory activity protein 2 isoform X24

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    33422576..33577145
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054376085.1 → XP_054232060.1  melanoma inhibitory activity protein 2 isoform X1

  2. XM_054376088.1 → XP_054232063.1  melanoma inhibitory activity protein 2 isoform X4

  3. XM_054376087.1 → XP_054232062.1  melanoma inhibitory activity protein 2 isoform X3

  4. XM_054376089.1 → XP_054232064.1  melanoma inhibitory activity protein 2 isoform X5

  5. XM_054376086.1 → XP_054232061.1  melanoma inhibitory activity protein 2 isoform X2

  6. XM_054376090.1 → XP_054232065.1  melanoma inhibitory activity protein 2 isoform X6

  7. XM_054376091.1 → XP_054232066.1  melanoma inhibitory activity protein 2 isoform X7

  8. XM_054376092.1 → XP_054232067.1  melanoma inhibitory activity protein 2 isoform X8

  9. XM_054376093.1 → XP_054232068.1  melanoma inhibitory activity protein 2 isoform X9

  10. XM_054376094.1 → XP_054232069.1  melanoma inhibitory activity protein 2 isoform X10

  11. XM_054376097.1 → XP_054232072.1  melanoma inhibitory activity protein 2 isoform X13

  12. XM_054376099.1 → XP_054232074.1  melanoma inhibitory activity protein 2 isoform X15

  13. XM_054376107.1 → XP_054232082.1  melanoma inhibitory activity protein 2 isoform X21

  14. XM_054376098.1 → XP_054232073.1  melanoma inhibitory activity protein 2 isoform X14

  15. XM_054376108.1 → XP_054232083.1  melanoma inhibitory activity protein 2 isoform X22

  16. XM_054376100.1 → XP_054232075.1  melanoma inhibitory activity protein 2 isoform X16

  17. XM_054376110.1 → XP_054232085.1  melanoma inhibitory activity protein 2 isoform X22

  18. XM_054376096.1 → XP_054232071.1  melanoma inhibitory activity protein 2 isoform X12

  19. XM_054376106.1 → XP_054232081.1  melanoma inhibitory activity protein 2 isoform X20

  20. XM_054376113.1 → XP_054232088.1  melanoma inhibitory activity protein 2 isoform X16

  21. XM_054376101.1 → XP_054232076.1  melanoma inhibitory activity protein 2 isoform X16

  22. XM_054376102.1 → XP_054232077.1  melanoma inhibitory activity protein 2 isoform X16

  23. XM_054376104.1 → XP_054232079.1  melanoma inhibitory activity protein 2 isoform X18

  24. XM_054376103.1 → XP_054232078.1  melanoma inhibitory activity protein 2 isoform X17

  25. XM_054376112.1 → XP_054232087.1  melanoma inhibitory activity protein 2 isoform X23

  26. XM_054376111.1 → XP_054232086.1  melanoma inhibitory activity protein 2 isoform X22

  27. XM_054376095.1 → XP_054232070.1  melanoma inhibitory activity protein 2 isoform X11

  28. XM_054376105.1 → XP_054232080.1  melanoma inhibitory activity protein 2 isoform X19

  29. XM_054376109.1 → XP_054232084.1  melanoma inhibitory activity protein 2 isoform X22

  30. XM_054376114.1 → XP_054232089.1  melanoma inhibitory activity protein 2 isoform X24

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_203357.1: Suppressed sequence

    Description
    NM_203357.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96PC5.4 GenPept UniProtKB/Swiss-Prot:Q96PC5

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