Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9873
Gene name Gene Name - the full gene name approved by the HGNC.
FCH and double SH3 domains 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FCHSD2
Synonyms (NCBI Gene) Gene synonyms aliases
NWK, NWK1, SH3MD3
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q13.4
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT023044 hsa-miR-124-3p Microarray 18668037
MIRT658157 hsa-miR-449b-3p HITS-CLIP 23824327
MIRT658155 hsa-miR-6791-3p HITS-CLIP 23824327
MIRT658156 hsa-miR-6829-3p HITS-CLIP 23824327
MIRT658154 hsa-miR-4662a-5p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 14627983, 18654987, 21516116, 25416956, 26871637, 29887380, 31515488, 32296183, 32814053
GO:0005547 Function Phosphatidylinositol-3,4,5-trisphosphate binding IDA 29887380
GO:0005737 Component Cytoplasm IEA
GO:0005886 Component Plasma membrane IDA 29887380
GO:0005886 Component Plasma membrane IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
617556 29114 ENSG00000137478
Protein
UniProt ID O94868
Protein name F-BAR and double SH3 domains protein 2 (Carom) (Protein nervous wreck 1) (NWK1) (SH3 multiple domains protein 3)
Protein function Adapter protein that plays a role in endocytosis via clathrin-coated pits. Contributes to the internalization of cell surface receptors, such as integrin ITGB1 and transferrin receptor (PubMed:29887380). Promotes endocytosis of EGFR in cancer ce
PDB 2DL5 , 2DL7 , 6GBU
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00611 FCH 21 103 Fes/CIP4, and EFC/F-BAR homology domain Family
PF00018 SH3_1 475 522 SH3 domain Domain
PF14604 SH3_9 574 625 Variant SH3 domain Domain
Tissue specificity TISSUE SPECIFICITY: Liver, brain, heart, placenta, skeletal muscle, pancreas, lung and kidney. {ECO:0000269|PubMed:14627983}.
Sequence
MQPPPRKVKVTQELKNIQVEQMTKLQAKHQAECDLLEDMRTFSQKKAAIEREYAQGMQKL
ASQYLKRDWPGVKADDRNDYRSMYPVWKSFLEGTMQVAQSRMN
ICENYKNFISEPARTVR
SLKEQQLKRCVDQLTKIQTELQETVKDLAKGKKKYFETEQMAHAVREKADIEAKSKLSLF
QSRISLQKASVKLKARRSECNSKATHARNDYLLTLAAANAHQDRYYQTDLVNIMKALDGN
VYDHLKDYLIAFSRTELETCQAVQNTFQFLLENSSKVVRDYNLQLFLQENAVFHKPQPFQ
FQPCDSDTSRQLESETGTTEEHSLNKEARKWATRVAREHKNIVHQQRVLNDLECHGAAVS
EQSRAELEQKIDEARENIRKAEIIKLKAEARLDLLKQIGVSVDTWLKSAMNQVMEELENE
RWARPPAVTSNGTLHSLNADTEREEGEEFEDNMDVFDDSSSSPSGTLRNYPLTCKVVYSY
KASQPDELTIEEHEVLEVIEDGDMEDWVKARNKVGQVGYVPE
KYLQFPTSNSLLSMLQSL
AALDSRSHTSSNSTEAELVSGSLNGDASVCFVKALYDYEGQTDDELSFPEGAIIRILNKE
NQDDDGFWEGEFNGRIGVFPSVLVE
ELSASENGDTPWMREIQISPSPKPHASLPPLPLYD
QPPSSPYPSPDKRSSLYFPRSPSANEKSLHAESPGFSQASRHTPETSYGKLRPVRAAPPP
PTQNHRRPAEKIEDVEITLV
Sequence length 740
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Crohn Disease Crohn's disease N/A N/A GWAS
Insomnia Insomnia N/A N/A GWAS
Psoriasis Psoriasis N/A N/A GWAS
Systemic lupus erythematosus Systemic lupus erythematosus N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Carcinoma Non Small Cell Lung Associate 30249660, 32678845
Fetal Diseases Associate 36585686
Heart Diseases Associate 37542143
Lupus Erythematosus Systemic Associate 26663301
Neoplasms Inhibit 30249660
Neoplasms Associate 32678845