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

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

NEDD9 Protein Structure

SH3_9

SH3_9: Variant SH3 domain (10 - 60)

Serine_rich

Serine_rich: Serine rich protein interaction domain (404 - 559)

DUF3513

DUF3513: Domain of unknown function (DUF3513) (617 - 828)

  • 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

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