Gene Gene information from NCBI Gene database.
Entrez ID 22884
Gene name WD repeat domain 37
Gene symbol WDR37
Synonyms (NCBI Gene)
NOCGUS
Chromosome 10
Chromosome location 10p15.3
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), which may facilitate formation of heterotrimeric or multiprotein com
SNPs SNP information provided by dbSNP.
4
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.
1053
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
8
GO ID Ontology Definition Evidence Reference
GO:0002260 Process Lymphocyte homeostasis IEA
GO:0002260 Process Lymphocyte homeostasis ISS
GO:0005515 Function Protein binding IPI 32296183, 34642815
GO:0005634 Component Nucleus IDA 31327510
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
618586 31406 ENSG00000047056
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
15
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Cerebellar vermis hypoplasia Likely pathogenic; Pathogenic rs1554823375 RCV000779655
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital cerebellar hypoplasia Likely pathogenic; Pathogenic rs1554823375 RCV001258017
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurooculocardiogenitourinary syndrome Likely pathogenic; Pathogenic rs2131630556, rs2131646026, rs1311664509, rs2490748562, rs1554823375, rs1589088690, rs1589088702, rs1589088703 RCV001775174
RCV001693494
RCV001693495
RCV003236624
RCV000855668
View all (3 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ventriculomegaly Likely pathogenic; Pathogenic rs1554823375 RCV000779655
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CEREBELLAR HYPOPLASIA/ATROPHY, EPILEPSY, AND GLOBAL DEVELOPMENTAL DELAY Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Cardiovascular Abnormalities Cardiovascular Abnormalities GENOMICS_ENGLAND_DG 31327508
★☆☆☆☆
Found in Text Mining only
Cerebellar Hypoplasia Cerebellar Hypoplasia BEFREE 31327508
★☆☆☆☆
Found in Text Mining only
Cerebellar Hypoplasia Cerebellar Hypoplasia CLINVAR_DG
★☆☆☆☆
Found in Text Mining only
Chronic Kidney Diseases Kidney Disease BEFREE 20383146
★☆☆☆☆
Found in Text Mining only
Chronic Kidney Diseases Kidney Disease GWASDB_DG 20383146, 22479191
★☆☆☆☆
Found in Text Mining only
Congenital ocular coloboma (disorder) Congenital ocular coloboma GENOMICS_ENGLAND_DG 31327508
★☆☆☆☆
Found in Text Mining only
Congenital ocular coloboma (disorder) Congenital ocular coloboma CLINVAR_DG
★☆☆☆☆
Found in Text Mining only
Dysmorphism Dysmorphism CLINVAR_DG
★☆☆☆☆
Found in Text Mining only
Epilepsy Epilepsy BEFREE 31327508
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Epilepsy Epilepsy CLINVAR_DG
★★☆☆☆
Found in Text Mining + Unknown/Other Associations