Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4739
Gene name Gene Name - the full gene name approved by the HGNC.
Neural precursor cell expressed, developmentally down-regulated 9
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NEDD9
Synonyms (NCBI Gene) Gene synonyms aliases
CAS-L, CAS2, CASL, CASS2, HEF1
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p24.2
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is a member of the CRK-associated substrates family. Members of this family are adhesion docking molecules that mediate protein-protein interactions for signal transduction pathways. This protein is a focal adhesion protei
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT006817 hsa-miR-18a-5p qRT-PCR, Western blot 22308110
MIRT006889 hsa-miR-145-5p Immunofluorescence, Immunohistochemistry, qRT-PCR, Western blot 22869051
MIRT006889 hsa-miR-145-5p Luciferase reporter assay 23355420
MIRT047916 hsa-miR-30c-5p CLASH 23622248
MIRT006889 hsa-miR-145-5p Luciferase reporter assay, qRT-PCR 24384875
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000922 Component Spindle pole IEA
GO:0000922 Component Spindle pole ISS
GO:0001772 Component Immunological synapse IEA
GO:0001772 Component Immunological synapse ISS
GO:0005515 Function Protein binding IPI 9360983, 11827972, 15051726, 16394104, 19103205, 19275884, 21516116, 22810897, 24574519, 25416956, 28514442, 29191835, 29899023, 32296183, 33961781
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602265 7733 ENSG00000111859
Protein
UniProt ID Q14511
Protein name Enhancer of filamentation 1 (hEF1) (CRK-associated substrate-related protein) (CAS-L) (CasL) (Cas scaffolding protein family member 2) (CASS2) (Neural precursor cell expressed developmentally down-regulated protein 9) (NEDD-9) (Renal carcinoma antigen NY-
Protein function Scaffolding protein which plays a central coordinating role for tyrosine-kinase-based signaling related to cell adhesion (PubMed:24574519). As a focal adhesion protein, plays a role in embryonic fibroblast migration (By similarity). May play an
PDB 2L81 , 5X3S
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14604 SH3_9 10 61 Variant SH3 domain Domain
PF08824 Serine_rich 404 560 Serine rich protein interaction domain Domain
PF12026 CAS_C 619 828 Crk-Associated Substrate C-terminal domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in B-cells (at protein level) (PubMed:9020138). Expressed in the respiratory epithelium of the main bronchi to the bronchioles in the lungs (at protein level) (PubMed:9584194). High levels detected in kidney, lung, and placen
Sequence
MKYKNLMARALYDNVPECAEELAFRKGDILTVIEQNTGGLEGWWLCSLHGRQGIVPGNRV
K
LLIGPMQETASSHEQPASGLMQQTFGQQKLYQVPNPQAAPRDTIYQVPPSYQNQGIYQV
PTGHGTQEQEVYQVPPSVQRSIGGTSGPHVGKKVITPVRTGHGYVYEYPSRYQKDVYDIP
PSHTTQGVYDIPPSSAKGPVFSVPVGEIKPQGVYDIPPTKGVYAIPPSACRDEAGLREKD
YDFPPPMRQAGRPDLRPEGVYDIPPTCTKPAGKDLHVKYNCDIPGAAEPVARRHQSLSPN
HPPPQLGQSVGSQNDAYDVPRGVQFLEPPAETSEKANPQERDGVYDVPLHNPPDAKGSRD
LVDGINRLSFSSTGSTRSNMSTSSTSSKESSLSASPAQDKRLFLDPDTAIERLQRLQQAL
EMGVSSLMALVTTDWRCYGYMERHINEIRTAVDKVELFLKEYLHFVKGAVANAACLPELI
LHNKMKRELQRVEDSHQILSQTSHDLNECSWSLNILAINKPQNKCDDLDRFVMVAKTVPD
DAKQLTTTINTNAEALFRPG
PGSLHLKNGPESIMNSTEYPHGGSQGQLLHPGDHKAQAHN
KALPPGLSKEQAPDCSSSDGSERSWMDDYDYVHLQGKEEFERQQKELLEKENIMKQNKMQ
LEHHQLSQFQLLEQEITKPVENDISKWKPSQSLPTTNSGVSAQDRQLLCFYYDQCETHFI
SLLNAIDALFSCVSSAQPPRIFVAHSKFVILSAHKLVFIGDTLTRQVTAQDIRNKVMNSS
NQLCEQLKTIVMATKMAALHYPSTTALQEMVHQVTDLSRNAQLFKRSL
LEMATF
Sequence length 834
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
Coronary artery disease Coronary artery disease N/A N/A GWAS
Hypothyroidism Hypothyroidism N/A N/A GWAS
Prostate cancer Prostate cancer N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acute erythroleukemia Stimulate 34432355
Adenocarcinoma Associate 23086683
Adenocarcinoma of Lung Stimulate 40362444
Arthritis Associate 37771106
Arthritis Experimental Associate 37771106
Atherosclerosis Associate 23468652
Breast Neoplasms Associate 21145356, 24676793, 25319010, 31462898, 32638964, 35844785, 36604412
Breast Neoplasms Stimulate 21829474
Carcinogenesis Associate 40362444
Carcinoma Basal Cell Associate 23086683