Gene Gene information from NCBI Gene database.
Entrez ID 9873
Gene name FCH and double SH3 domains 2
Gene symbol FCHSD2
Synonyms (NCBI Gene)
NWKNWK1SH3MD3
Chromosome 11
Chromosome location 11q13.4
miRNA miRNA information provided by mirtarbase database.
270
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
29
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
617556 29114 ENSG00000137478
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
13
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
ARTHRITIS, JUVENILE CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL CARCINOMA 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
Crohn Disease Crohn Disease GWASCAT_DG 23266558
★☆☆☆☆
Found in Text Mining only
Crohn Disease Crohn Disease GWASDB_DG 23266558
★☆☆☆☆
Found in Text Mining only
Crohn Disease Crohn Disease BEFREE 23850713
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus GWASDB_DG 22885922
★☆☆☆☆
Found in Text Mining only
Endometrial Carcinoma Endometrial carcinoma GWASCAT_DG 30093612
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Heart Diseases Heart disease Pubtator 37542143 Associate
★☆☆☆☆
Found in Text Mining only
Inflammatory Bowel Diseases Inflammatory Bowel Disease BEFREE 26511940
★☆☆☆☆
Found in Text Mining only
Juvenile arthritis Arthritis CTD_human_DG 19565504
★☆☆☆☆
Found in Text Mining only
Juvenile psoriatic arthritis Juvenile arthritis CTD_human_DG 19565504
★☆☆☆☆
Found in Text Mining only
Juvenile-Onset Still Disease Still Disease CTD_human_DG 19565504
★☆☆☆☆
Found in Text Mining only