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HEPACAM2 HEPACAM family member 2 [ Homo sapiens (human) ]

Gene ID: 253012, updated on 5-Mar-2024

Summary

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Official Symbol
HEPACAM2provided by HGNC
Official Full Name
HEPACAM family member 2provided by HGNC
Primary source
HGNC:HGNC:27364
See related
Ensembl:ENSG00000188175 MIM:614133; AllianceGenome:HGNC:27364
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
MIKI
Summary
This gene encodes a protein related to the immunoglobulin superfamily that plays a role in mitosis. Knockdown of this gene results in prometaphase arrest, abnormal nuclear morphology and apoptosis. Poly(ADP-ribosylation) of the encoded protein promotes its translocation to centrosomes, which may stimulate centrosome maturation. A chromosomal deletion including this gene may be associated with myeloid leukemia and myelodysplastic syndrome in human patients. [provided by RefSeq, Oct 2016]
Expression
Biased expression in colon (RPKM 38.5), small intestine (RPKM 21.6) and 3 other tissues See more
Orthologs
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Genomic context

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Location:
7q21.2
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (93188534..93232285, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (94430593..94474339, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (92817847..92861511, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:92737283-92738482 Neighboring gene sterile alpha motif domain containing 9 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26279 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26280 Neighboring gene sterile alpha motif domain containing 9 like Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26281 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26282 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26283 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26284 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:92890341-92890842 Neighboring gene VPS50 subunit of EARP/GARPII complex Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:93025621-93026134 Neighboring gene calcitonin receptor Neighboring gene microRNA 653

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
  • 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. Effects of smoking cessation on gene expression in human leukocytes of chronic smoker. Kim SJ, et al. Psychiatry Investig, 2014 Jul. PMID 25110502, Free PMC Article
  2. Myoclonus dystonia plus syndrome due to a novel 7q21 microdeletion. Saugier-Veber P, et al. Am J Med Genet A, 2010 May. PMID 20425829
  3. Identification of a common microdeletion cluster in 7q21.3 subband among patients with myeloid leukemia and myelodysplastic syndrome. Asou H, et al. Biochem Biophys Res Commun, 2009 May 29. PMID 19358830
  4. Poly-ADP ribosylation of Miki by tankyrase-1 promotes centrosome maturation. Ozaki Y, et al. Mol Cell, 2012 Sep 14. PMID 22864114
  5. Identification of candidate genes for human pituitary development by EST analysis. Ma Y, et al. BMC Genomics, 2009 Mar 15. PMID 19284880, Free PMC Article

See all (13) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The data suggest that PARsylation of Miki by tankyrase-1 is a key initial event promoting prometaphase.
    Title: Poly-ADP ribosylation of Miki by tankyrase-1 promotes centrosome maturation.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in cell division IEA
Inferred from Electronic Annotation
more info
  
involved_in centrosome cycle IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in centrosome cycle IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
is_active_in Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in Golgi membrane IEA
Inferred from Electronic Annotation
more info
  
is_active_in centrosome IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in centrosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
  
is_active_in midbody IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in midbody IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitotic spindle IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
is_active_in spindle IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in spindle IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
HEPACAM family member 2
Names
mitotic kinetics regulator

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_051957.1 RefSeqGene

    Range
    10730..48665
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001039372.4 → NP_001034461.1  HEPACAM family member 2 isoform 1 precursor

    See identical proteins and their annotated locations for NP_001034461.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform 1.
    Source sequence(s)
    AC000119, AK096002
    Consensus CDS
    CCDS43616.1
    UniProtKB/Swiss-Prot
    A8MVW5, B3KTT4, B4DPJ1, B9EG93, E9PDV5, Q6UXI0
    Related
    ENSP00000377980.2, ENST00000394468.7
    Conserved Domains (3) summary
    smart00408
    Location:167 → 226
    IGc2; Immunoglobulin C-2 Type
    pfam07679
    Location:149 → 232
    I-set; Immunoglobulin I-set domain
    cl11960
    Location:105 → 174
    Ig; Immunoglobulin domain

  2. NM_001288804.3 → NP_001275733.1  HEPACAM family member 2 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains an alternate in-frame exon in the 5' coding region compared to variant 1. The encoded isoform (3) is longer and lacks a predicted signal peptide compared to isoform 1.
    Source sequence(s)
    AC000119, AK298361, BC139906
    Consensus CDS
    CCDS75632.1
    UniProtKB/Swiss-Prot
    A8MVW5
    Related
    ENSP00000390204.2, ENST00000453812.2
    Conserved Domains (3) summary
    smart00408
    Location:190 → 249
    IGc2; Immunoglobulin C-2 Type
    pfam07679
    Location:172 → 255
    I-set; Immunoglobulin I-set domain
    cl11960
    Location:128 → 197
    Ig; Immunoglobulin domain

  3. NM_001288810.3 → NP_001275739.1  HEPACAM family member 2 isoform 4 precursor

    See identical proteins and their annotated locations for NP_001275739.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, contains a novel 5' coding region, initiates translation at an alternate start site and lacks an exon in the 3' coding region compared to variant 1. The encoded isoform (4) is shorter and has a distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AC000119, AY358345, BC046365, BC139906
    Consensus CDS
    CCDS75631.1
    UniProtKB/TrEMBL
    C9JN07
    Related
    ENSP00000389592.1, ENST00000440868.5
    Conserved Domains (3) summary
    smart00408
    Location:155 → 214
    IGc2; Immunoglobulin C-2 Type
    pfam07679
    Location:137 → 220
    I-set; Immunoglobulin I-set domain
    cl11960
    Location:93 → 162
    Ig; Immunoglobulin domain

  4. NM_001346642.2 → NP_001333571.1  HEPACAM family member 2 isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding region and uses a downstream translation start site compared to variant 1. The encoded isoform (5) contains a shorter N-terminus and lacks a predicted signal peptide compared to isoform 1.
    Source sequence(s)
    AC000119, AC002453

  5. NM_198151.4 → NP_937794.1  HEPACAM family member 2 isoform 2 precursor

    See identical proteins and their annotated locations for NP_937794.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, contains a novel 5' coding region, and initiates translation at an alternate start site compared to variant 1. The encoded isoform (2) has a shorter and distinct N-terminus compared to variant 1.
    Source sequence(s)
    AC000119, AY358345, BC139906, H75859
    Consensus CDS
    CCDS5629.1
    UniProtKB/Swiss-Prot
    A8MVW5
    Related
    ENSP00000340532.4, ENST00000341723.8
    Conserved Domains (2) summary
    pfam13927
    Location:136 → 211
    Ig_3; Immunoglobulin domain
    cl11960
    Location:25 → 130
    Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    93188534..93232285 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011516001.3 → XP_011514303.1  HEPACAM family member 2 isoform X1

    See identical proteins and their annotated locations for XP_011514303.1

    Conserved Domains (3) summary
    smart00408
    Location:92 → 151
    IGc2; Immunoglobulin C-2 Type
    pfam07679
    Location:74 → 157
    I-set; Immunoglobulin I-set domain
    cl11960
    Location:30 → 99
    Ig; Immunoglobulin domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    94430593..94474339 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054357738.1 → XP_054213713.1  HEPACAM family member 2 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A8MVW5.1 GenPept UniProtKB/Swiss-Prot:A8MVW5

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