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MAP7D2 MAP7 domain containing 2 [ Homo sapiens (human) ]

Gene ID: 256714, updated on 3-Nov-2024

Summary

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Official Symbol
MAP7D2provided by HGNC
Official Full Name
MAP7 domain containing 2provided by HGNC
Primary source
HGNC:HGNC:25899
See related
Ensembl:ENSG00000184368 MIM:301121; AllianceGenome:HGNC:25899
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
Predicted to be involved in microtubule cytoskeleton organization. Predicted to be active in microtubule cytoskeleton. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in brain (RPKM 8.5), testis (RPKM 4.5) and 4 other tissues See more
Orthologs
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Genomic context

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See MAP7D2 in Genome Data Viewer
Location:
Xp22.12
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (20006713..20116907, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (19589600..19699784, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (20024831..20135025, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124905256 Neighboring gene BCLAF1 and THRAP3 family member 3 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:20001035-20001226 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20693 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20694 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20695 Neighboring gene uncharacterized LOC729609 Neighboring gene microRNA 23c Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29477 Neighboring gene EIF1AX antisense RNA 1 Neighboring gene eukaryotic translation initiation factor 1A X-linked Neighboring gene small Cajal body-specific RNA 9 like

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. MAP7D2 Localizes to the Proximal Axon and Locally Promotes Kinesin-1-Mediated Cargo Transport into the Axon. Pan X, et al. Cell Rep, 2019 Feb 19. PMID 30784582, Free PMC Article
  2. The consensus coding sequences of human breast and colorectal cancers. Sjöblom T, et al. Science, 2006 Oct 13. PMID 16959974
  3. Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. Gauci S, et al. Anal Chem, 2009 Jun 1. PMID 19413330
  4. MARK3-mediated phosphorylation of ARHGEF2 couples microtubules to the actin cytoskeleton to establish cell polarity. Sandí MJ, et al. Sci Signal, 2017 Oct 31. PMID 29089450, Free PMC Article
  5. Regulation of MAGE-A3/6 by the CRL4-DCAF12 ubiquitin ligase and nutrient availability. Ravichandran R, et al. EMBO Rep, 2019 Jul. PMID 31267705, Free PMC Article

See all (33) citations in PubMed

GeneRIFs: Gene References Into Functions

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 Variation Viewer (GRCh37.p13)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ14503, MGC104944

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in microtubule cytoskeleton organization IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in microtubule cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
MAP7 domain-containing protein 2
Names
MAP7 domain containing 2 brain
MAP7 domain containing 2 protein varaint 1
MAP7 domain containing 2 protein varaint 2

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_016371.1 RefSeqGene

    Range
    5090..115284
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001168465.2 → NP_001161937.1  MAP7 domain-containing protein 2 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AW138738, BC089400, BC136379, R45976
    Consensus CDS
    CCDS55386.1
    UniProtKB/TrEMBL
    A0A0M3R6J9
    Related
    ENSP00000368964.5, ENST00000379643.10
    Conserved Domains (2) summary
    pfam05672
    Location:425 → 603
    MAP7; MAP7 (E-MAP-115) family
    cl20817
    Location:53 → 119
    GBP_C; Guanylate-binding protein, C-terminal domain

  2. NM_001168466.2 → NP_001161938.1  MAP7 domain-containing protein 2 isoform 3

    See identical proteins and their annotated locations for NP_001161938.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks two alternate in-frame exons and uses an alternate in-frame splice site in the coding region, compared to variant 1. This results in a shorter protein (isoform 3), compared to isoform 1.
    Source sequence(s)
    AK296319, AW138738, BC089400, R45976
    Consensus CDS
    CCDS55385.1
    UniProtKB/TrEMBL
    B7ZA02
    Related
    ENSP00000388239.3, ENST00000443379.7
    Conserved Domains (2) summary
    pfam05672
    Location:339 → 510
    MAP7; MAP7 (E-MAP-115) family
    cl20817
    Location:53 → 119
    GBP_C; Guanylate-binding protein, C-terminal domain

  3. NM_001168467.2 → NP_001161939.1  MAP7 domain-containing protein 2 isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, initiates translation at a downstream start codon, and uses an alternate in-frame splice site in the coding region, compared to variant 1. The encoded isoform (4) maintains the reading frame but is shorter, compared to isoform 1.
    Source sequence(s)
    AK294788, AL732366, AW138738, BC089400, DA409284, R45976
    Consensus CDS
    CCDS55384.1
    UniProtKB/TrEMBL
    A0A0M3R6J9
    Related
    ENSP00000413301.3, ENST00000452324.3
    Conserved Domains (2) summary
    pfam05672
    Location:332 → 510
    MAP7; MAP7 (E-MAP-115) family
    cl20817
    Location:9 → 75
    GBP_C; Guanylate-binding protein, C-terminal domain

  4. NM_152780.4 → NP_689993.2  MAP7 domain-containing protein 2 isoform 2

    See identical proteins and their annotated locations for NP_689993.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
    Source sequence(s)
    AW138738, BC037165, BC136379, R45976
    Consensus CDS
    CCDS14195.1
    UniProtKB/Swiss-Prot
    B7Z2J8, B7Z3S7, B9EGC7, C9JMA4, C9JYW0, Q5EBN1, Q5JPS7, Q6PIC7, Q8N792, Q96T17
    UniProtKB/TrEMBL
    A0A0M3R6J9
    Related
    ENSP00000368972.3, ENST00000379651.7
    Conserved Domains (2) summary
    pfam05672
    Location:384 → 562
    MAP7; MAP7 (E-MAP-115) family
    cl20817
    Location:53 → 119
    GBP_C; Guanylate-binding protein, C-terminal domain

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_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    20006713..20116907 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005274480.4 → XP_005274537.1  MAP7 domain-containing protein 2 isoform X9

    UniProtKB/TrEMBL
    A0A0M3R6J9
    Conserved Domains (2) summary
    pfam05672
    Location:376 → 554
    MAP7; MAP7 (E-MAP-115) family
    cl20817
    Location:53 → 119
    GBP_C; Guanylate-binding protein, C-terminal domain

  2. XM_005274479.3 → XP_005274536.1  MAP7 domain-containing protein 2 isoform X8

    UniProtKB/TrEMBL
    A0A0K1JS24, A0A0M3R6J9
    Conserved Domains (2) summary
    pfam05672
    Location:398 → 576
    MAP7; MAP7 (E-MAP-115) family
    cl20817
    Location:53 → 119
    GBP_C; Guanylate-binding protein, C-terminal domain

  3. XM_017029393.2 → XP_016884882.1  MAP7 domain-containing protein 2 isoform X6

    UniProtKB/TrEMBL
    A0A0M3R6J9, A0A0M4FLI9
    Conserved Domains (2) summary
    pfam05672
    Location:406 → 584
    MAP7; MAP7 (E-MAP-115) family
    cl20817
    Location:53 → 119
    GBP_C; Guanylate-binding protein, C-terminal domain

  4. XM_011545483.2 → XP_011543785.1  MAP7 domain-containing protein 2 isoform X2

    UniProtKB/TrEMBL
    A0A0M3R6J9
    Conserved Domains (2) summary
    pfam05672
    Location:447 → 625
    MAP7; MAP7 (E-MAP-115) family
    cl20817
    Location:53 → 119
    GBP_C; Guanylate-binding protein, C-terminal domain

  5. XM_005274478.4 → XP_005274535.1  MAP7 domain-containing protein 2 isoform X5

    UniProtKB/TrEMBL
    A0A0K1JRJ6, A0A0M3R6J9
    Conserved Domains (2) summary
    pfam05672
    Location:409 → 587
    MAP7; MAP7 (E-MAP-115) family
    cl20817
    Location:53 → 119
    GBP_C; Guanylate-binding protein, C-terminal domain

  6. XM_006724482.3 → XP_006724545.1  MAP7 domain-containing protein 2 isoform X3

    UniProtKB/TrEMBL
    A0A0M3R6J9, A0A0M4F6E1
    Conserved Domains (2) summary
    pfam05672
    Location:417 → 595
    MAP7; MAP7 (E-MAP-115) family
    cl20817
    Location:53 → 119
    GBP_C; Guanylate-binding protein, C-terminal domain

  7. XM_006724481.3 → XP_006724544.1  MAP7 domain-containing protein 2 isoform X1

    UniProtKB/TrEMBL
    A0A0M3R6J9
    Conserved Domains (2) summary
    pfam05672
    Location:458 → 636
    MAP7; MAP7 (E-MAP-115) family
    cl20817
    Location:53 → 119
    GBP_C; Guanylate-binding protein, C-terminal domain

  8. XM_047441983.1 → XP_047297939.1  MAP7 domain-containing protein 2 isoform X14

  9. XM_017029397.2 → XP_016884886.1  MAP7 domain-containing protein 2 isoform X13

    UniProtKB/TrEMBL
    B3KXC0

  10. XM_017029396.2 → XP_016884885.1  MAP7 domain-containing protein 2 isoform X12

    UniProtKB/TrEMBL
    B3KXC0

  11. XM_011545485.2 → XP_011543787.1  MAP7 domain-containing protein 2 isoform X7

    UniProtKB/TrEMBL
    A0A0M3R6J9
    Conserved Domains (2) summary
    pfam05672
    Location:403 → 581
    MAP7; MAP7 (E-MAP-115) family
    cl20817
    Location:9 → 75
    GBP_C; Guanylate-binding protein, C-terminal domain

  12. XM_017029395.3 → XP_016884884.1  MAP7 domain-containing protein 2 isoform X11

    UniProtKB/TrEMBL
    B3KXC0

  13. XM_017029394.2 → XP_016884883.1  MAP7 domain-containing protein 2 isoform X10

    UniProtKB/TrEMBL
    A0A0M3R6J9

  14. XM_011545484.2 → XP_011543786.1  MAP7 domain-containing protein 2 isoform X4

    UniProtKB/TrEMBL
    A0A0M3R6J9
    Conserved Domains (2) summary
    pfam05672
    Location:414 → 592
    MAP7; MAP7 (E-MAP-115) family
    cl20817
    Location:9 → 75
    GBP_C; Guanylate-binding protein, C-terminal domain

  15. XM_017029398.3 → XP_016884887.1  MAP7 domain-containing protein 2 isoform X19

  16. XM_047441985.1 → XP_047297941.1  MAP7 domain-containing protein 2 isoform X18

  17. XM_024452362.2 → XP_024308130.1  MAP7 domain-containing protein 2 isoform X16

    Conserved Domains (2) summary
    pfam05914
    Location:40 → 119
    RIB43A
    cl25742
    Location:425 → 452
    ERM; Ezrin/radixin/moesin family

  18. XM_011545486.4 → XP_011543788.1  MAP7 domain-containing protein 2 isoform X15

    Conserved Domains (1) summary
    cl20817
    Location:53 → 119
    GBP_C; Guanylate-binding protein, C-terminal domain

  19. XM_047441984.1 → XP_047297940.1  MAP7 domain-containing protein 2 isoform X17

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    19589600..19699784 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054326806.1 → XP_054182781.1  MAP7 domain-containing protein 2 isoform X9

  2. XM_054326805.1 → XP_054182780.1  MAP7 domain-containing protein 2 isoform X8

    UniProtKB/TrEMBL
    A0A0K1JS24

  3. XM_054326803.1 → XP_054182778.1  MAP7 domain-containing protein 2 isoform X6

    UniProtKB/TrEMBL
    A0A0M4FLI9

  4. XM_054326799.1 → XP_054182774.1  MAP7 domain-containing protein 2 isoform X2

  5. XM_054326802.1 → XP_054182777.1  MAP7 domain-containing protein 2 isoform X5

    UniProtKB/TrEMBL
    A0A0K1JRJ6

  6. XM_054326800.1 → XP_054182775.1  MAP7 domain-containing protein 2 isoform X3

    UniProtKB/TrEMBL
    A0A0M4F6E1

  7. XM_054326798.1 → XP_054182773.1  MAP7 domain-containing protein 2 isoform X1

  8. XM_054326811.1 → XP_054182786.1  MAP7 domain-containing protein 2 isoform X14

  9. XM_054326810.1 → XP_054182785.1  MAP7 domain-containing protein 2 isoform X13

  10. XM_054326809.1 → XP_054182784.1  MAP7 domain-containing protein 2 isoform X12

  11. XM_054326804.1 → XP_054182779.1  MAP7 domain-containing protein 2 isoform X7

  12. XM_054326808.1 → XP_054182783.1  MAP7 domain-containing protein 2 isoform X11

  13. XM_054326807.1 → XP_054182782.1  MAP7 domain-containing protein 2 isoform X10

  14. XM_054326801.1 → XP_054182776.1  MAP7 domain-containing protein 2 isoform X4

  15. XM_054326816.1 → XP_054182791.1  MAP7 domain-containing protein 2 isoform X19

  16. XM_054326815.1 → XP_054182790.1  MAP7 domain-containing protein 2 isoform X18

  17. XM_054326812.1 → XP_054182787.1  MAP7 domain-containing protein 2 isoform X15

  18. XM_054326814.1 → XP_054182789.1  MAP7 domain-containing protein 2 isoform X17

  19. XM_054326813.1 → XP_054182788.1  MAP7 domain-containing protein 2 isoform X16

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96T17.2 GenPept UniProtKB/Swiss-Prot:Q96T17

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