Gene Gene information from NCBI Gene database.
Entrez ID 22911
Gene name WD repeat domain 47
Gene symbol WDR47
Synonyms (NCBI Gene)
-
Chromosome 1
Chromosome location 1p13.3
miRNA miRNA information provided by mirtarbase database.
112
miRTarBase ID miRNA Experiments Reference
MIRT024637 hsa-miR-215-5p Microarray 19074876
MIRT026954 hsa-miR-192-5p Microarray 19074876
MIRT1490768 hsa-miR-203 CLIP-seq
MIRT1490769 hsa-miR-217 CLIP-seq
MIRT1490770 hsa-miR-3140-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
24
GO ID Ontology Definition Evidence Reference
GO:0000226 Process Microtubule cytoskeleton organization IEA
GO:0005515 Function Protein binding IPI 25416956, 33961781
GO:0005737 Component Cytoplasm IEA
GO:0005856 Component Cytoskeleton IEA
GO:0005874 Component Microtubule IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
615734 29141 ENSG00000085433
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O94967
Protein name WD repeat-containing protein 47 (Neuronal enriched MAP-interacting protein) (Nemitin)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF17814 LisH_TPL 12 40 Domain
PF00400 WD40 649 687 WD domain, G-beta repeat Repeat
PF00400 WD40 745 782 WD domain, G-beta repeat Repeat
PF00400 WD40 787 828 WD domain, G-beta repeat Repeat
PF00400 WD40 832 870 WD domain, G-beta repeat Repeat
Sequence
MTAEETVNVKEVEIIKLILDFLNSKKLHISMLALEKESGVINGLFSDDMLFLRQLILDGQ
WDEVLQFIQPLECMEKFDKKRFRYIILKQKFLEALCVNNAMSAEDEPQHLEFTMQEAVQC
LHALEEYCPSKDDYSKLCLLLTLPRLTNHAEFKDWNPSTARVHCFEEACVMVAEFIPADR
KLSEAGFKASNNRLFQLVMKGLLYECCVEFCQSKATGEEITESEVLLGIDLLCGNGCDDL
DLSLLSWLQNLPSSVFSCAFEQKMLNIHVDKLLKPTKAAYADLLTPLISKLSPYPSSPMR
RPQSADAYMTRSLNPALDGLTCGLTSHDKRISDLGNKTSPMSHSFANFHYPGVQNLSRSL
MLENTECHSIYEESPERDTPVDAQRPIGSEILGQSSVSEKEPANGAQNPGPAKQEKNELR
DSTEQFQEYYRQRLRYQQHLEQKEQQRQIYQQMLLEGGVNQEDGPDQQQNLTEQFLNRSI
QKLGELNIGMDGLGNEVSALNQQCNGSKGNGSNGSSVTSFTTPPQDSSQRLTHDASNIHT
STPRNPGSTNHIPFLEESPCGSQISSEHSVIKPPLGDSPGSLSRSKGEEDDKSKKQFVCI
NILEDTQAVRAVAFHPAGGLYAVGSNSKTLRVCAYPDVIDPSAHETPKQPVVRFKRNKHH
KGSIYCVAWSPCGQLLATGSNDKYVKV
LPFNAETCNATGPDLEFSMHDGTIRDLAFMEGP
ESGGAILISAGAGDCNIYTTDCQRGQGLHALSGHTGHILALYTWSGWMIASGSQDKTVRF
WD
LRVPSCVRVVGTTFHGTGSAVASVAVDPSGRLLATGQEDSSCMLYDIRGGRMVQSYHP
HSSDVRSVRFSPGAHYLLTGSYDMKIKVTD
LQGDLTKQLPIMVVGEHKDKVIQCRWHTQD
LSFLSSSADRTVTLWTYNG
Sequence length 919
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)
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
NEURODEVELOPMENTAL DISORDERS Disgenet
★★☆☆☆
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 Pubtator 35474353 Associate
★☆☆☆☆
Found in Text Mining only
Heart Defects Congenital Congenital heart defect Pubtator 35474353 Associate
★☆☆☆☆
Found in Text Mining only
Heterotaxy Syndrome Heterotaxy syndrome Pubtator 35474353 Associate
★☆☆☆☆
Found in Text Mining only
Lissencephaly Lissencephaly BEFREE 29078390
★☆☆☆☆
Found in Text Mining only
Microcephaly Microcephaly BEFREE 29078390
★☆☆☆☆
Found in Text Mining only
Situs Inversus Situs inversus Pubtator 35474353 Associate
★☆☆☆☆
Found in Text Mining only