Gene Gene information from NCBI Gene database.
Entrez ID 64743
Gene name WD repeat domain 13
Gene symbol WDR13
Synonyms (NCBI Gene)
MG21
Chromosome X
Chromosome location Xp11.23
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
miRNA miRNA information provided by mirtarbase database.
225
miRTarBase ID miRNA Experiments Reference
MIRT044715 hsa-miR-320a CLASH 23622248
MIRT532537 hsa-miR-3613-3p HITS-CLIP 19536157
MIRT532536 hsa-miR-4258 HITS-CLIP 19536157
MIRT532537 hsa-miR-3613-3p HITS-CLIP 19536157
MIRT532536 hsa-miR-4258 HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
6
GO ID Ontology Definition Evidence Reference
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IDA
GO:0005886 Component Plasma membrane IDA
GO:0034451 Component Centriolar satellite IDA
GO:1904691 Process Negative regulation of type B pancreatic cell proliferation IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300512 14352 ENSG00000101940
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H1Z4
Protein name WD repeat-containing protein 13
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00400 WD40 207 244 WD domain, G-beta repeat Repeat
PF00400 WD40 444 481 WD domain, G-beta repeat Repeat
Tissue specificity TISSUE SPECIFICITY: Widely expressed.
Sequence
MAAVWQQVLAVDARYNAYRTPTFPQFRTQYIRRRSQLLRENAKAGHPPALRRQYLRLRGQ
LLGQRYGPLSEPGSARAYSNSIVRSSRTTLDRMEDFEDDPRALGARGHRRSVSRGSYQLQ
AQMNRAVYEDRPPGSVVPTSAAEASRAMAGDTSLSENYAFAGMYHVFDQHVDEAVPRVRF
ANDDRHRLACCSLDGSISLCQLVPAPPTVLRVLRGHTRGVSDFAWSLSNDILVSTSLDAT
MRIW
ASEDGRCIREIPDPDSAELLCCTFQPVNNNLTVVGNAKHNVHVMNISTGKKVKGGS
SKLTGRVLALSFDAPGRLLWAGDDHGSVFSFLFDMATGKLTKAKRLVVHEGSPVTSISAR
SWVSREARDPSLLINACLNKLLLYRVVDNEGTLQLKRSFPIEQSSHPVRSIFCPLMSFRQ
GACVVTGSEDMCVHFFDVERAAKAAVNKLQGHSAPVLDVSFNCDESLLASSDASGMVIVW
R
REQK
Sequence length 485
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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)
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
Esophageal atresia Uncertain significance ClinVar
Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
INTELLECTUAL DISABILITY Disgenet, GenCC
Disgenet, GenCC
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Pyloric stenosis Uncertain significance 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
Colitis Colitis BEFREE 28222755
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal Neoplasms BEFREE 28222755
★☆☆☆☆
Found in Text Mining only
Diabetes Diabetes BEFREE 30369599
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Diabetes Mellitus BEFREE 30369599
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent Diabetes Mellitus BEFREE 30369599
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus BEFREE 30369599
★☆☆☆☆
Found in Text Mining only
Intellectual Disability Intellectual developmental disorder Pubtator 20655035, 34946860 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Neoplasms Neoplasms BEFREE 28222755
★☆☆☆☆
Found in Text Mining only