1. Gene
  2. WDR7 - WD repeat domain 7 Gene

WDR7 - WD repeat domain 7 Gene

Homo sapiens

Also known as TRAG

Gene ID: 23335 | Gene type: protein coding

About WDR7

Cytogenetic location: 18q21.31 Genomic coordinates (GRCh38): 18:56,651,359-57,036,606 (from NCBI)

This gene has 12 transcripts (splice variants), 212 orthologues and 26 paralogues. Ubiquitous expression in brain (RPKM 12.4), thyroid (RPKM 5.9) and 24 other tissues.

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]

WDR7 Products(4)

mRNA Protein Name
NM_001382485.1 NP_001369414.1 WD repeat-containing protein 7 isoform 2
NM_001382487.1 NP_001369416.1 WD repeat-containing protein 7 isoform 1
NM_015285.3 NP_056100.2 WD repeat-containing protein 7 isoform 1
NM_052834.3 NP_443066.2 WD repeat-containing protein 7 isoform 2

WDR7 Protein Structure

WD40

WD40: WD domain, G-beta repeat (17 - 47)

WD40

WD40: WD domain, G-beta repeat (60 - 95)

WD40

WD40: WD domain, G-beta repeat (454 - 498)

WD40

WD40: WD domain, G-beta repeat (559 - 587)

WD40

WD40: WD domain, G-beta repeat (1388 - 1422)

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  • 1200
  • 1490 a.a.
Protein Preferred Names Protein Names

WD repeat-containing protein 7

TGF-beta resistance associated

Related Diseases

Diseases Alias
Retinitis Pigmentosa 4

RP4

Retinitis Pigmentosa 4, Autosomal Dominant Or Recessive

Retinitis Pigmentosa, Rhodopsin-Related

Retinitis Pigmentosa, Type 4

Aleutian Mink Disease

Aleutian Disease

Kohlschutter-Tonz Syndrome

Amelocerebrohypohidrotic Syndrome

KTZS

Epilepsy And Yellow Teeth

Kohlschutter Tonz Syndrome

Kohlschutter Syndrome

Epilepsy Dementia Amelogenesis Imperfecta

Epilepsy-Dementia-Amelogenesis Imperfecta Syndrome

Epilepsy, Dementia, And Amelogenesis Imperfecta

Kohlschutter'S Syndrome

Kohlschütter-Tönz Syndrome

Kohlschuetter-Toenz Syndrome

Presenile Dementia

Dementia

Ulcerative Stomatitis

Stomatitis Ulcerative

Aphthous Stomatitis

Minor Oral Aphthous Ulceration

Optic Atrophy 3, Autosomal Dominant

Optic Atrophy 3

OPA3

Autosomal Dominant Optic Atrophy And Cataract

Optic Atrophy And Cataract, Autosomal Dominant

Autosomal Dominant Optic Atrophy Type 3

Optic Atrophy 3 With Cataract

Opa3, Autosomal Dominant

Adoac

Optic Atrophy, Cataract, And Neurologic Disorder

Autosomal Dominant Optic Atrophy 3

Optic Atrophy Type 3

Optic Atrophy 3 Autosomal Dominant

Atrophy, Optic, Type 3, Autosomal Dominant

3-Methylglutaconic Aciduria Type 3

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus WDR7 VGNC VGNC:67049
Macaca mulatta WDR7 VGNC VGNC:78929
Rattus norvegicus WDR7 RGD RGD:619836
Bos taurus WDR7 VGNC VGNC:36914
Canis familiaris WDR7 VGNC VGNC:48383
Mus musculus WDR7 MGD MGI:1860197
Others WDR7 NCBI