NEDD9 neural precursor cell expressed, developmentally down-regulated 9 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NEDD9provided by HGNC
Official Full Name: neural precursor cell expressed, developmentally down-regulated 9provided by HGNC
Primary source: HGNC:HGNC:7733
See related: Ensembl:ENSG00000111859 MIM:602265; AllianceGenome:HGNC:7733
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CAS2; CASL; HEF1; CAS-L; CASS2
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]
Expression: Broad expression in lung (RPKM 35.3), placenta (RPKM 25.4) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6p24.2

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (11183298..11382348, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (11051218..11250286, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (11183531..11382581, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

NEDD9 is transcriptionally regulated by HDAC4 and promotes breast cancer metastasis and macrophage M2 polarization via the FAK/NF-kappaB signaling pathway.
Title: NEDD9 is transcriptionally regulated by HDAC4 and promotes breast cancer metastasis and macrophage M2 polarization via the FAK/NF-κB signaling pathway.
Transcription factor 7 like 2 promotes metastasis in hepatocellular carcinoma via NEDD9-mediated activation of AKT/mTOR signaling pathway.
Title: Transcription factor 7 like 2 promotes metastasis in hepatocellular carcinoma via NEDD9-mediated activation of AKT/mTOR signaling pathway.
Combined high NEDD9 expression and E-cadherin loss correlate with poor clinical outcome in gastric cancer.
Title: Combined high NEDD9 expression and E-cadherin loss correlate with poor clinical outcome in gastric cancer.
NEDD9 Mediates the FAK/Src Signaling Pathway to Promote the Adhesion of Human Trabecular Meshwork Cells after Dexamethasone Treatment.
Title: NEDD9 Mediates the FAK/Src Signaling Pathway to Promote the Adhesion of Human Trabecular Meshwork Cells after Dexamethasone Treatment.
miR-107 is involved in the regulation of NEDD9-mediated invasion and metastasis in breast cancer.
Title: miR-107 is involved in the regulation of NEDD9-mediated invasion and metastasis in breast cancer.
Wnt5a-induced docking of Plk1 on HEF1 promotes HEF1 translocation and tumorigenesis.
Title: Wnt5a-induced docking of Plk1 on HEF1 promotes HEF1 translocation and tumorigenesis.
NEDD9 overexpression: Prognostic and guidance value in acute myeloid leukaemia.
Title: NEDD9 overexpression: Prognostic and guidance value in acute myeloid leukaemia.
Susceptibility-Associated Genetic Variation in NEDD9 Contributes to Prostate Cancer Initiation and Progression.
Title: Susceptibility-Associated Genetic Variation in NEDD9 Contributes to Prostate Cancer Initiation and Progression.
Expression of NEDD9 and connexin-43 in neoplastic and stromal cells of gastric adenocarcinoma.
Title: Expression of NEDD9 and connexin-43 in neoplastic and stromal cells of gastric adenocarcinoma.
MicroRNA-1252-5p, regulated by Myb, inhibits invasion and epithelial-mesenchymal transition of pancreatic cancer cells by targeting NEDD9.
Title: MicroRNA-1252-5p, regulated by Myb, inhibits invasion and epithelial-mesenchymal transition of pancreatic cancer cells by targeting NEDD9.

Submit: New GeneRIF Correction See all GeneRIFs (98)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2019-02-27) ClinGen Genome Curation Page Haploinsufficency Little evidence for dosage pathogenicity (Last evaluated 2019-02-27) ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

Description
A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genomewide association study for determinants of HIV-1 acquisition and viral set point in HIV-1 serodiscordant couples with quantified virus exposure. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
capsid	gag	Depletion of the NEDD9 expression upregulates HIV-1 CA A92E mutant infectivity in CsA-untreated HeLa cells and downregulates its infectivity in CsA-treated HeLa cells	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AL020974 (e-PCR)
- UniSTS:25106

SHGC-33201 (e-PCR)
- UniSTS:78100

RH104039 (e-PCR)
- UniSTS:98364

RH46700 (e-PCR)
- UniSTS:54078

D6S2064 (e-PCR)
- UniSTS:54079

D6S2068 (e-PCR)
- UniSTS:79170

D6S1979 (e-PCR)
- UniSTS:60995

RH15834 (e-PCR)
- UniSTS:62278

SGC34351 (e-PCR)
- UniSTS:45428

G60230 (e-PCR)
- UniSTS:137340

G62928 (e-PCR)
- UniSTS:139903

SHGC-83040 (e-PCR)
- UniSTS:96141

G30970 (e-PCR)
- UniSTS:44694

SHGC-34846 (e-PCR)
- UniSTS:24732

RH98262 (e-PCR)
- UniSTS:86685

043XF2 (e-PCR)
- UniSTS:21409

RH67987 (e-PCR)
- UniSTS:71079

RH46787 (e-PCR)
- UniSTS:66482

WI-13606 (e-PCR)
- UniSTS:83387

RH69676 (e-PCR)
- UniSTS:19901

D6S1194E (e-PCR)
- UniSTS:52670

A002S01 (e-PCR)
- UniSTS:20173

D6S2068 (e-PCR)
- UniSTS:76497

RH16235 (e-PCR)
- UniSTS:64732

D6S1863 (e-PCR)
- UniSTS:71155

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein tyrosine kinase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in actin filament bundle assembly	NAS Non-traceable Author Statement more info	PubMed
involved_in cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in cell division	IEA Inferred from Electronic Annotation more info
involved_in cell migration	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell surface receptor protein tyrosine kinase signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in cilium disassembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cytoskeleton organization	NAS Non-traceable Author Statement more info	PubMed
involved_in integrin-mediated signaling pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in learning or memory	ISS Inferred from Sequence or Structural Similarity more info
involved_in lymphocyte migration into lymphoid organs	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of cell migration	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of dendritic spine maintenance	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of immunological synapse formation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of lymphocyte chemotaxis	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of osteoclast differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of protein localization	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of protein tyrosine kinase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of substrate adhesion-dependent cell spreading	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of actin cytoskeleton organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
located_in basolateral plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in cell cortex	IEA Inferred from Electronic Annotation more info
located_in ciliary basal body	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in focal adhesion	IDA Inferred from Direct Assay more info	PubMed
located_in immunological synapse	ISS Inferred from Sequence or Structural Similarity more info
located_in lamellipodium	IEA Inferred from Electronic Annotation more info
located_in mitotic spindle	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in spindle	TAS Traceable Author Statement more info	PubMed
located_in spindle pole	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: enhancer of filamentation 1

Names: Cas scaffolding protein family member 2; Crk-associated substrate related protein Cas-L; Enhancer of filamentation 1 p55; cas-like docking; neural precursor cell expressed developmentally down-regulated protein 9; p130Cas-related protein; renal carcinoma antigen NY-REN-12

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001142393.2 → NP_001135865.1 enhancer of filamentation 1 isoform 3

See identical proteins and their annotated locations for NP_001135865.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) contains an alternate 5' UTR and coding exon and initiates translation at an upstream AUG compared to variant 1. The resulting isoform (3) has a distinct N-terminus, compared to isoform 1.

Source sequence(s)

AA814628, AJ420493, AK292682, BC040207, DA778416

Consensus CDS

CCDS47373.1

Related

ENSP00000422871.1, ENST00000504387.5

Conserved Domains (3) summary

cd11550
Location:401 → 562

Serine_rich_NEDD9; Serine rich Four helix bundle domain of CAS (Crk-Associated Substrate) scaffolding protein, Neural precursor cell Expressed, Developmentally Down-regulated 9; a protein interaction module

cd12002
Location:7 → 63

SH3_NEDD9; Src homology 3 domain of CAS (Crk-Associated Substrate) scaffolding protein family member, Neural precursor cell Expressed, Developmentally Down-regulated 9

pfam12026
Location:621 → 828

DUF3513; Domain of unknown function (DUF3513)
NM_001271033.2 → NP_001257962.1 enhancer of filamentation 1 isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks an alternate in-frame exon in the coding region compared to variant 1. It encodes isoform 4 which is shorter than isoform 1.

Source sequence(s)

AA814628, AW963532, BC040207, BP262776, DA660812

Consensus CDS

CCDS75400.1

UniProtKB/TrEMBL

A0A087WUD2

Related

ENSP00000478563.1, ENST00000620854.4

Conserved Domains (2) summary

cd11550
Location:252 → 413

Serine_rich_NEDD9; Serine rich Four helix bundle domain of CAS (Crk-Associated Substrate) scaffolding protein, Neural precursor cell Expressed, Developmentally Down-regulated 9; a protein interaction module

pfam12026
Location:470 → 679

DUF3513; Domain of unknown function (DUF3513)
NM_006403.4 → NP_006394.1 enhancer of filamentation 1 isoform 1

See identical proteins and their annotated locations for NP_006394.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes isoform 1.

Source sequence(s)

AA814628, AJ420493, AK292682, BC040207, DA778416

Consensus CDS

CCDS4520.1

UniProtKB/Swiss-Prot

A8K9G7, A8MSJ9, G5E9Y9, Q14511, Q5T9R4, Q5XKI0

Related

ENSP00000368759.5, ENST00000379446.10

Conserved Domains (3) summary

cd11550
Location:401 → 562

Serine_rich_NEDD9; Serine rich Four helix bundle domain of CAS (Crk-Associated Substrate) scaffolding protein, Neural precursor cell Expressed, Developmentally Down-regulated 9; a protein interaction module

cd12002
Location:7 → 63

SH3_NEDD9; Src homology 3 domain of CAS (Crk-Associated Substrate) scaffolding protein family member, Neural precursor cell Expressed, Developmentally Down-regulated 9

pfam12026
Location:621 → 828

DUF3513; Domain of unknown function (DUF3513)
NM_182966.4 → NP_892011.2 enhancer of filamentation 1 isoform 2

See identical proteins and their annotated locations for NP_892011.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks several exons and includes an alternate 3' terminal exon, compared to variant 1. It encodes isoform 2 which is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AL136139, BC020686, BC040207, DA778416

Consensus CDS

CCDS34340.1

UniProtKB/Swiss-Prot

Q14511

Related

ENSP00000368745.5, ENST00000379433.5

Conserved Domains (1) summary

cd12002
Location:7 → 63

SH3_NEDD9; Src homology 3 domain of CAS (Crk-Associated Substrate) scaffolding protein family member, Neural precursor cell Expressed, Developmentally Down-regulated 9