Gene Gene information from NCBI Gene database.
Entrez ID 4739
Gene name Neural precursor cell expressed, developmentally down-regulated 9
Gene symbol NEDD9
Synonyms (NCBI Gene)
CAS-LCAS2CASLCASS2HEF1
Chromosome 6
Chromosome location 6p24.2
Summary 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.
124
miRTarBase ID miRNA Experiments Reference
MIRT006817 hsa-miR-18a-5p qRT-PCRWestern blot 22308110
MIRT006889 hsa-miR-145-5p ImmunofluorescenceImmunohistochemistryqRT-PCRWestern 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 assayqRT-PCR 24384875
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
63
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602265 7733 ENSG00000111859
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
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
CHRONIC INTESTINAL VASCULAR INSUFFICIENCY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DENTAL CARIES GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIGESTIVE SYSTEM DISEASE 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
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 1612589
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 22447485, 25051398, 28714018
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Endometrioid Endometrial Cancer BEFREE 29364471
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 21317929
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease, Late Onset Alzheimer disease BEFREE 18063669, 20430066, 21059344
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 29924959
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis BEFREE 12847683
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis Pubtator 37771106 Associate
★☆☆☆☆
Found in Text Mining only
Arthritis Experimental Experimental arthritis Pubtator 37771106 Associate
★☆☆☆☆
Found in Text Mining only
Arthritis, Psoriatic Psoriatic Arthritis BEFREE 29436741
★☆☆☆☆
Found in Text Mining only