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

    Gene ID: 256714, updated on 27-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
    mouse all
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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
    • 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 variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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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