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Gene Gene information from NCBI Gene database.
Entrez ID 29062
Gene name WD repeat domain 91
Gene symbol WDR91
Synonyms (NCBI Gene)
HSPC049SORF-1SORF1
Chromosome 7
Chromosome location 7q33
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs373727223 C>A,T Pathogenic Missense variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, stop gained
miRNA miRNA information provided by mirtarbase database.
236 Show/Hide all (236)
miRTarBase ID miRNA Experiments Reference
MIRT028975 hsa-miR-26b-5p Microarray 19088304
MIRT631644 hsa-miR-4781-3p HITS-CLIP 23313552
MIRT631643 hsa-miR-3653-5p HITS-CLIP 23313552
MIRT631642 hsa-miR-3663-5p HITS-CLIP 23313552
MIRT631640 hsa-miR-4755-3p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20 Show/Hide all (20)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 17500595, 26783301, 27126989, 32814053
GO:0005768 Component Endosome IEA
GO:0005829 Component Cytosol IDA 26783301
GO:0006511 Process Ubiquitin-dependent protein catabolic process IMP 28404643
GO:0010008 Component Endosome membrane IDA 26783301
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616303 24997 ENSG00000105875
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
A4D1P6
Protein name WD repeat-containing protein 91
Protein function Functions as a negative regulator of the PI3 kinase/PI3K activity associated with endosomal membranes via BECN1, a core subunit of the PI3K complex. By modifying the phosphatidylinositol 3-phosphate/PtdInsP3 content of endosomal membranes may re
PDB 6VYC , 8KB8 , 8KB9 , 8SHJ , 8T55 , 9DTA , 9DTB , 9EJO , 9EJP , 9MK7
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00400 WD40 552 → 590 WD domain, G-beta repeat Repeat
Sequence
MAEAVERTDELVREYLLFRGFTHTLRQLDAEIKADKEKGFRVDKIVDQLQQLMQVYDLAA
LRDYWSYLERRLFSRLEDIYRPTIHKLKTSLFRFYLVYTIQTNRNDKAQEFFAKQATELQ
NQAEWKDWFVLPFLPSPDTNPTFATYFSRQWADTFIVSLHNFLSVLFQCMPVPVILNFDA
ECQRTNQVQEENEVLRQKLFALQAEIHRLKKEEQQPEEEEALVQHKLPPYVSNMDRLGDS
ELAMVCSQRNASLSQSPRVGFLSSLLPQSKKSPSRLSPAQGPPQPQSSAKKESFGGQGTK
GKDPTSGAKDGKSLLSGLATGESGWSQHRQRRLQDHGKERKELFSTTTSQCAEKKPEASG
PEAEPCPELHTEPVEPLTRASSAGPEGGGVRPEQPFIVLGQEEYGEHHSSIMHCRVDCSG
RRVASLDVDGVIKVWSFNPIMQTKASSISKSPLLSLEWATKRDRLLLLGSGVGTVRLYDT
EAKKNLCEININDNMPRILSLACSPNGASFVCSAAAPSLTSQVDFSAPDIGSKGMNQVPG
RLLLWDTKTMKQQLQFSLDPEPIAINCTAFNHNGNLLVTGAADGVIRLFDMQQHECAMSW
RAHYGEVYSVEFSYDENTVYSIGEDGKFIQWNIHKSGLKVSEYSLPSDATGPFVLSGYSG
YKQVQVPRGRLFAFDSEGNYMLTCSATGGVIYKLGGDEKVLESCLSLGGHRAPVVTVDWS
TAMDCGTCLTASMDGKIKLTTLLAHKA
Sequence length 747
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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
Neurodevelopmental disorder with brain malformations and multiple congenital anomalies Pathogenic rs373727223 RCV001003466
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)