Gene Gene information from NCBI Gene database.
Entrez ID 8976
Gene name WASP like actin nucleation promoting factor
Gene symbol WASL
Synonyms (NCBI Gene)
N-WASPNWASPWASPB
Chromosome 7
Chromosome location 7q31.32
Summary This gene encodes a member of the Wiskott-Aldrich syndrome (WAS) protein family. Wiskott-Aldrich syndrome proteins share similar domain structure, and associate with a variety of signaling molecules to alter the actin cytoskeleton. The encoded protein is
miRNA miRNA information provided by mirtarbase database.
911
miRTarBase ID miRNA Experiments Reference
MIRT051960 hsa-let-7b-5p CLASH 23622248
MIRT051048 hsa-miR-17-5p CLASH 23622248
MIRT049810 hsa-miR-92a-3p CLASH 23622248
MIRT437604 hsa-miR-142-3p MicroarrayqRT-PCR 22815788
MIRT520215 hsa-miR-548c-3p HITS-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
42
GO ID Ontology Definition Evidence Reference
GO:0003779 Function Actin binding IEA
GO:0005515 Function Protein binding IPI 11231575, 11331876, 12732638, 14732713, 15296718, 15527496, 16253999, 16293614, 16483316, 16531231, 16582881, 16595635, 16767080, 17015620, 17474147, 18388313, 18650809, 18662323, 20936779, 21516116, 21706016, 22921828, 23414517, 24332715, 25416956, 26496610, 26871637, 27107012, 285
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IDA 16767080
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
605056 12735 ENSG00000106299
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O00401
Protein name Actin nucleation-promoting factor WASL (Neural Wiskott-Aldrich syndrome protein) (N-WASP)
Protein function Regulates actin polymerization by stimulating the actin-nucleating activity of the Arp2/3 complex (PubMed:16767080, PubMed:19366662, PubMed:19487689, PubMed:22847007, PubMed:22921828, PubMed:9422512). Involved in various processes, such as mitos
PDB 2FF3 , 2LNH , 2VCP , 4CC2 , 4CC7 , 9DLX
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00568 WH1 31 138 WH1 domain Domain
PF00786 PBD 202 261 P21-Rho-binding domain Domain
PF02205 WH2 403 428 WH2 motif Family
PF02205 WH2 430 455 WH2 motif Family
Sequence
MSSVQQQPPPPRRVTNVGSLLLTPQENESLFTFLGKKCVTMSSAVVQLYAADRNCMWSKK
CSGVACLVKDNPQRSYFLRIFDIKDGKLLWEQELYNNFVYNSPRGYFHTFAGDTCQVALN
FANEEEAKKFRKAVTDLL
GRRQRKSEKRRDPPNGPNLPMATVDIKNPEITTNRFYGPQVN
NISHTKEKKKGKAKKKRLTKADIGTPSNFQHIGHVGWDPNTGFDLNNLDPELKNLFDMCG
ISEAQLKDRETSKVIYDFIEK
TGGVEAVKNELRRQAPPPPPPSRGGPPPPPPPPHNSGPP
PPPARGRGAPPPPPSRAPTAAPPPPPPSRPSVAVPPPPPNRMYPPPPPALPSSAPSGPPP
PPPSVLGVGPVAPPPPPPPPPPPGPPPPPGLPSDGDHQVPTTAGNKAALLDQIREGAQLK
KVEQNSRP
VSCSGRDALLDQIRQGIQLKSVADGQESTPPTPAPTSGIVGALMEVMQKRSK
AIHSSDEDEDEDDEEDFEDDDEWED
Sequence length 505
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
MIGRAINE DISORDER GWAS catalog
★★☆☆☆
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
Azoospermia Azoospermia BEFREE 21503600
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 20940394, 22559840, 23091069, 26657485, 29672847
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 26657485 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 28475688, 29621773 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 28351346
★☆☆☆☆
Found in Text Mining only
Carcinoma, Basal Cell Carcinoma BEFREE 30534824
★☆☆☆☆
Found in Text Mining only
Centronuclear myopathy Centronuclear Myopathy BEFREE 25262827
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 29672847
★☆☆☆☆
Found in Text Mining only
Dermatitis, Atopic Dermatitis BEFREE 28779153
★☆☆☆☆
Found in Text Mining only
Eczema Eczema BEFREE 28779153
★☆☆☆☆
Found in Text Mining only