NEDD9 - neural precursor cell expressed, developmentally down-regulated 9 Gene

Homo sapiens

Also known as CAS2; CASL; HEF1; CAS-L; CASS2

Gene ID: 4739 | Gene type: protein coding

About NEDD9

Cytogenetic location: 6p24.2 Genomic coordinates (GRCh38): 6:11,183,298-11,382,348 (from NCBI)

This gene has 16 transcripts (splice variants), 209 orthologues and 3 paralogues. Broad expression in lung (RPKM 35.3), placenta (RPKM 25.4) and 22 other tissues.

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 protein that acts as a scaffold to regulate signaling complexes important in cell attachment, migration and invasion as well as Apoptosis and the cell cycle. This protein has also been reported to have a role in Cancer metastasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]

NEDD9 Products(4)

mRNA	Protein	Name
NM_001142393.2	NP_001135865.1	enhancer of filamentation 1 isoform 3
NM_001271033.2	NP_001257962.1	enhancer of filamentation 1 isoform 4
NM_006403.4	NP_006394.1	enhancer of filamentation 1 isoform 1
NM_182966.4	NP_892011.2	enhancer of filamentation 1 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	9360983	GOA
enables protein tyrosine kinase binding	IPI IPI: Inferred from physical interaction	18256281	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in cilium disassembly	IMP IMP: Inferred from mutant phenotype	17604723	GOA
involved in positive regulation of cell migration	IMP IMP: Inferred from mutant phenotype	18256281	GOA
involved in positive regulation of protein tyrosine kinase activity	IDA IDA: Inferred from direct assay	18256281	GOA
involved in positive regulation of substrate adhesion-dependent cell spreading	IMP IMP: Inferred from mutant phenotype	18256281	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in ciliary basal body	IDA IDA: Inferred from direct assay	17604723	GOA
located in focal adhesion	IDA IDA: Inferred from direct assay	19103205	GOA
located in mitotic spindle	IDA IDA: Inferred from direct assay	16394104	GOA
located in nucleus	IDA IDA: Inferred from direct assay	29899023	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NEDD9 Protein Structure

SH3_9

Serine_rich

DUF3513

0
200
400
600
834 a.a.

Protein Preferred Names

Protein Names

enhancer of filamentation 1

Cas scaffolding protein family member 2

Related Diseases

Diseases

Alias

Palmoplantar Keratoderma And Congenital Alopecia 2

Cataract-Alopecia-Sclerodactyly Syndrome	Cass
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	PPKCA2
Autosomal Recessive Palmoplantar Hyperkeratosis And Congenital Alopecia	Palmoplantar Keratoderma And Congenital Alopecia, Wallis Type
Ppk-Ca, Wallis Type	Cataract, Alopecia, Sclerodactyly
Ppkca, Wallis Type	Ppkca Wallis Type
Cataract, Alopecia, Sclerodactyly Syndrome

Meckel Syndrome, Type 1

Meckel-Gruber Syndrome	Meckel Syndrome
Dysencephalia Splanchnocystica	Meckel Syndrome 1
MKS1	Mks
Gruber Syndrome	Meckel-Gruber Syndrome, Type 1
Mes	Dysencephalia Splachnocystica
Meckel Gruber Syndrome	Meckel Syndrome Type 1

Hemochromatosis, Type 1

Hemochromatosis	Hemochromatosis Type 1
Hereditary Hemochromatosis	Hh
HFE1	Hfe Hemochromatosis, Modifier Of
Symptomatic Form Of Classic Hemochromatosis	Symptomatic Form Of Hemochromatosis Type 1
Symptomatic Form Of Hfe-Related Hereditary Hemochromatosis	Haemochromatosis
Iron Storage Disorder	Bronze Diabetes
Hereditary Haemochromatosis	Hlah
Hfe	Hemochromatosis, Hereditary
Diabetes Bronze	Classic Hemochromatosis
Hfe-Associated Hereditary Hemochromatosis	Hemochromatosis Classic
Bronzed Cirrhosis	Familial Hemochromatosis
Genetic Hemochromatosis	Hc
Pigmentary Cirrhosis	Primary Hemochromatosis
Troisier-Hanot-Chauffard Syndrome	Von Recklenhausen-Applebaum Disease
Hemochromatosis 1	Primary Hereditary Hemochromatosis
Bronze Cirrhosis

Autosomal Dominant Polycystic Kidney Disease

Polycystic Kidney Disease, Adult Type	Adpkd
Polycystic Kidney Diseases	Polycystic Kidney, Autosomal Dominant
Congenital Biliary Ectasias	Polycystic Kidney And Hepatic Disease 1
Polycystic Kidney Disease, Autosomal Dominant	Kidney, Polycystic, Disease, Autosomal Dominant
Adult Polycystic Kidney Disease	Polycystic Kidney, Adult Type
Apckd - [Autosomal Polycystic Kidney Disease]

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09182	NEDD9 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	NEDD9	VGNC	VGNC:75304
Bos taurus	NEDD9	VGNC	VGNC:31984
Felis catus	NEDD9	VGNC	VGNC:68453
Mus musculus	NEDD9	MGD	MGI:97302
Canis familiaris	NEDD9	VGNC	VGNC:43722
Rattus norvegicus	NEDD9	RGD	RGD:1306276

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