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    WDR7 WD repeat domain 7 [ Homo sapiens (human) ]

    Gene ID: 23335, updated on 7-Apr-2024

    Summary

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    Official Symbol
    WDR7provided by HGNC
    Official Full Name
    WD repeat domain 7provided by HGNC
    Primary source
    HGNC:HGNC:13490
    See related
    Ensembl:ENSG00000091157 MIM:613473; AllianceGenome:HGNC:13490
    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
    TRAG
    Summary
    This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD) that may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. The encoded protein forms the beta subunit of rabconnectin-3 and binds directly with Rab3A GDP/GTP exchange protein and indirectly with Rab3A GDP/GTP activating protein; these proteins are regulators of Rab3 small G protein family members involved in control of the calcium-dependant exocytosis of neurotransmitters. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in brain (RPKM 12.4), thyroid (RPKM 5.9) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    18q21.31
    Exon count:
    36
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (56651359..57036606)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (56853334..57234168)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (54318590..54697023)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372135 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:54304875-54305860 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:54305861-54306845 Neighboring gene Sharpr-MPRA regulatory region 10710 Neighboring gene thioredoxin like 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13364 Neighboring gene NANOG hESC enhancer GRCh37_chr18:54503488-54503989 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr18:54540953-54541541 Neighboring gene uncharacterized LOC124904382 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr18:54653903-54654752 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13365 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:54679651-54680151 Neighboring gene uncharacterized LOC105372136 Neighboring gene WDR7 overlapping transcript 1

    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. Evolution of a Human-Specific Tandem Repeat Associated with ALS. Course MM, et al. Am J Hum Genet, 2020 Sep 3. PMID 32750315, Free PMC Article
    2. Assignment of WDR7 (alias TRAG, TGF-beta resistance associated gene) to orthologous regions of human chromosome 18q21.1-->q22 and mouse chromosome 18D.1-E.3 by fluorescence in situ hybridization. Sanders S, et al. Cytogenet Cell Genet, 2000. PMID 10828621
    3. A novel rabconnectin-3-binding protein that directly binds a GDP/GTP exchange protein for Rab3A small G protein implicated in Ca(2+)-dependent exocytosis of neurotransmitter. Kawabe H, et al. Genes Cells, 2003 Jun. PMID 12786944
    4. Genome-wide association study of comorbid depressive syndrome and alcohol dependence. Edwards AC, et al. Psychiatr Genet, 2012 Feb. PMID 22064162, Free PMC Article
    5. Cross-disorder genome-wide analyses suggest a complex genetic relationship between Tourette's syndrome and OCD. Yu D, et al. Am J Psychiatry, 2015 Jan. PMID 25158072, Free PMC Article

    See all (39) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Evolution of a Human-Specific Tandem Repeat Associated with ALS.
      Title: Evolution of a Human-Specific Tandem Repeat Associated with ALS.
    2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
    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

    EBI GWAS Catalog

    Description
    Cross-Disorder Genome-Wide Analyses Suggest a Complex Genetic Relationship Between Tourette's Syndrome and OCD.
    EBI GWAS Catalog
    Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.
    EBI GWAS Catalog
    Genome-wide association study of comorbid depressive syndrome and alcohol dependence.
    EBI GWAS Catalog

    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

    Clone Names

    • KIAA0541

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in hematopoietic progenitor cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    WD repeat-containing protein 7
    Names
    TGF-beta resistance associated
    TGF-beta resistance-associated protein TRAG
    rabconnectin-3 beta

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_001382485.1 → NP_001369414.1  WD repeat-containing protein 7 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC007052, AC008006, AC012301
      Consensus CDS
      CCDS11963.1
      Conserved Domains (2) summary
      sd00039
      Location:22 → 62
      7WD40; WD40 repeat [structural motif]
      cl29593
      Location:408 → 598
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    2. NM_001382487.1 → NP_001369416.1  WD repeat-containing protein 7 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC007052, AC008006, AC012301
      Consensus CDS
      CCDS11962.1
      UniProtKB/Swiss-Prot
      A7E2C8, Q86UX5, Q86VP2, Q96PS7, Q9Y4E6
      Conserved Domains (2) summary
      sd00039
      Location:22 → 62
      7WD40; WD40 repeat [structural motif]
      cl29593
      Location:408 → 598
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    3. NM_015285.3 → NP_056100.2  WD repeat-containing protein 7 isoform 1

      See identical proteins and their annotated locations for NP_056100.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC007052, AC008006, AC012301
      Consensus CDS
      CCDS11962.1
      UniProtKB/Swiss-Prot
      A7E2C8, Q86UX5, Q86VP2, Q96PS7, Q9Y4E6
      Related
      ENSP00000254442.3, ENST00000254442.8
      Conserved Domains (2) summary
      sd00039
      Location:22 → 62
      7WD40; WD40 repeat [structural motif]
      cl29593
      Location:408 → 598
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    4. NM_052834.3 → NP_443066.2  WD repeat-containing protein 7 isoform 2

      See identical proteins and their annotated locations for NP_443066.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an exon within the coding region, compared to variant 1. It encodes isoform 2, which is shorter than isoform 1.
      Source sequence(s)
      AC007052, AC008006, AC012301
      Consensus CDS
      CCDS11963.1
      UniProtKB/Swiss-Prot
      Q9Y4E6
      Related
      ENSP00000350187.2, ENST00000357574.7
      Conserved Domains (2) summary
      sd00039
      Location:22 → 62
      7WD40; WD40 repeat [structural motif]
      cl29593
      Location:408 → 598
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    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_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      56651359..57036606
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011525888.3 → XP_011524190.1  WD repeat-containing protein 7 isoform X1

      Conserved Domains (3) summary
      COG2319
      Location:341 → 592
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:22 → 62
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:408 → 598
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    2. XM_047437422.1 → XP_047293378.1  WD repeat-containing protein 7 isoform X2

    3. XM_047437423.1 → XP_047293379.1  WD repeat-containing protein 7 isoform X3

    4. XM_047437424.1 → XP_047293380.1  WD repeat-containing protein 7 isoform X4

    5. XM_017025683.1 → XP_016881172.1  WD repeat-containing protein 7 isoform X5

      Conserved Domains (3) summary
      COG2319
      Location:851 → 919
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:849 → 883
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:849 → 918
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    RNA

    1. XR_007066131.1 RNA Sequence

    2. XR_007066132.1 RNA Sequence

    3. XR_007066133.1 RNA Sequence

    4. XR_007066134.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      56853334..57234168
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054318420.1 → XP_054174395.1  WD repeat-containing protein 7 isoform X1

    2. XM_054318421.1 → XP_054174396.1  WD repeat-containing protein 7 isoform X2

    3. XM_054318422.1 → XP_054174397.1  WD repeat-containing protein 7 isoform X3

    4. XM_054318423.1 → XP_054174398.1  WD repeat-containing protein 7 isoform X4

    5. XM_054318424.1 → XP_054174399.1  WD repeat-containing protein 7 isoform X5

    RNA

    1. XR_008484989.1 RNA Sequence

    2. XR_008484990.1 RNA Sequence

    3. XR_008484991.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y4E6.2 GenPept UniProtKB/Swiss-Prot:Q9Y4E6

    Gene LinkOut

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