Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
22884
Gene name Gene Name - the full gene name approved by the HGNC.
WD repeat domain 37
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
WDR37
Synonyms (NCBI Gene) Gene synonyms aliases
NOCGUS
Disease Acronyms (UniProt) Disease acronyms from UniProt database
NOCGUS
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10p15.3
Summary Summary of gene provided in NCBI Entrez Gene.
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), which may facilitate formation of heterotrimeric or multiprotein com
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1554823375 C>T Pathogenic, likely-pathogenic, not-provided Missense variant, coding sequence variant
rs1589088690 C>T Pathogenic, likely-pathogenic Coding sequence variant, missense variant
rs1589088702 C>G Pathogenic, likely-pathogenic Coding sequence variant, missense variant
rs1589088703 C>T Pathogenic, likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT016638 hsa-miR-429 Reporter assay 20005803
MIRT020348 hsa-miR-200a-3p Reporter assay 20005803
MIRT021071 hsa-miR-200c-3p Reporter assay 20005803
MIRT021662 hsa-miR-141-3p Reporter assay 20005803
MIRT024126 hsa-miR-200b-3p Reporter assay 20005803
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005634 Component Nucleus IDA 31327510
GO:0005737 Component Cytoplasm IDA 31327510
GO:0030687 Component Preribosome, large subunit precursor IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
618586 31406 ENSG00000047056
Protein
UniProt ID Q9Y2I8
Protein name WD repeat-containing protein 37
Protein function Required for normal ER Ca2+ handling in lymphocytes. Together with PACS1, it plays an essential role in stabilizing peripheral lymphocyte populations.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00400 WD40 146 185 WD domain, G-beta repeat Repeat
PF00400 WD40 189 227 WD domain, G-beta repeat Repeat
PF00400 WD40 313 351 WD domain, G-beta repeat Repeat
PF00400 WD40 357 394 WD domain, G-beta repeat Repeat
Sequence
MPTESASCSTARQTKQKRKSHSLSIRRTNSSEQERTGLPRDMLEGQDSKLPSSVRSTLLE
LFGQIEREFENLYIENLELRREIDTLNERLAAEGQAIDGAELSKGQLKTKASHSTSQLSQ
KLKTTYKASTSKIVSSFKTTTSRAACQLVKEYIGHRDGIWDVSVAKTQPVVLGTASADHT
ALLWS
IETGKCLVKYAGHVGSVNSIKFHPSEQLALTASGDQTAHIWRYAVQLPTPQPVAD
TSISGEDEVECSDKDEPDLDGDVSSDCPTIRVPLTSLKSHQGVVIASDWLVGGKQAVTAS
WDRTANLYDVETSELVHSLTGHDQELTHCCTHPTQRLVVTSSRDTTFRLWDFRDPSIHSV
NVFQGHTDTVTSAVFTVGDNVVSGSDDRTVKVWD
LKNMRSPIATIRTDSAINRINVCVGQ
KIIALPHDNRQVRLFDMSGVRLARLPRSSRQGHRRMVCCSAWSEDHPVCNLFTCGFDRQA
IGWNINIPALLQEK
Sequence length 494
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Anterior segment dysgenesis Irido-corneo-trabecular dysgenesis (disorder) rs121907917, rs72549387, rs121909248, rs104893861, rs104893862, rs80358194, rs2113111009, rs104893957, rs104893958, rs104893954, rs587778873, rs587778874, rs878853070, rs752281590, rs369858688
View all (8 more)
31327508
Congenital ocular coloboma Congenital ocular coloboma (disorder) rs587778875, rs587777249, rs767611891, rs2091986259, rs2091987023, rs2091988799 31327508
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
31327508
Epilepsy Epilepsy rs113994140, rs28937874, rs1589762127, rs104894166, rs28939075, rs2134001459, rs104894167, rs119488099, rs119488100, rs387906420, rs121917752, rs121918622, rs281865564, rs387907313, rs397514670
View all (165 more)
Unknown
Disease term Disease name Evidence References Source
Kidney Disease Kidney Disease GWAS
Associations from Text Mining
Disease Name Relationship Type References
Neoplasms Inhibit 38304253
Pancreatic Neoplasms Associate 38304253
Renal Insufficiency Chronic Associate 20383146