ECSCR endothelial cell surface expressed chemotaxis and apoptosis regulator [Homo sapiens (human)] - Gene

Summary

Official Symbol: ECSCRprovided by HGNC
Official Full Name: endothelial cell surface expressed chemotaxis and apoptosis regulatorprovided by HGNC
Primary source: HGNC:HGNC:35454
See related: Ensembl:ENSG00000249751 MIM:615736; AllianceGenome:HGNC:35454
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: ARIA; ECSM2
Summary: The protein encoded by this gene is primarily found in endothelial cells and blood vessels, where it is involved in cell shape changes and EGF-induced cell migration. It can enhance the activation of vascular endothelial growth factor receptor-2/kinase insert domain receptor and also promote the proteolysis of internalized kinase insert domain receptor. This gene may play a role in angiogenesis-related diseases. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
Annotation information: Note: This gene aligns across a gap in the GRCh38 reference genome assembly, and therefore, the 5' end of this gene was annotated on NT_029289.12 and the 3' end was annotated on NT_034772.7 in NCBI's Homo sapiens Annotation Release 106. [17 Jun 2014]; Annotation category: suggests misassembly
Expression: Broad expression in placenta (RPKM 24.9), lung (RPKM 23.6) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q31.2

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (139448560..139462743, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (139974387..139987818, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (138784249..138842328, complement)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Low expression level of ECSCR is associated with evasive resistance and disease progression in cancer.
Title: Biomarkers of evasive resistance predict disease progression in cancer patients treated with antiangiogenic therapies.
identification of three novel full-length splice variants potentially encoding different protein isoforms
Title: Identification of novel splice variants and exons of human endothelial cell-specific chemotaxic regulator (ECSCR) by bioinformatics analysis.
Endothelial cell-specific chemotaxis receptor (ECSCR) enhances vascular endothelial growth factor (VEGF) receptor-2/kinase insert domain receptor (KDR) activation and promotes proteolysis of internalized KDR.
Title: Endothelial cell-specific chemotaxis receptor (ECSCR) enhances vascular endothelial growth factor (VEGF) receptor-2/kinase insert domain receptor (KDR) activation and promotes proteolysis of internalized KDR.
ECSM2 modulated bFGF-directed endothelial cell motility via the FGF receptor (FGFR)-extracellular regulated kinase (ERK)-focal adhesion kinase (FAK) pathway.
Title: Endothelial cell-specific molecule 2 (ECSM2) localizes to cell-cell junctions and modulates bFGF-directed cell migration via the ERK-FAK pathway.
Knockdown of ARIA in HUVECs significantly reduced endothelial apoptosis without affecting either cell migration or proliferation. ARIA knockdown significantly increased inhibitor of apoptosis cIAP-1 and cIAP-2 protein expression
Title: Identification of ARIA regulating endothelial apoptosis and angiogenesis by modulating proteasomal degradation of cIAP-1 and cIAP-2.
ECSM2 is involved in cell-shape changes and actin cytoskeletal rearrangement, suppresses tyrosine phosphorylation signaling and ECSM2 can cross-talk with EGFR to attenuate the EGF-induced cell migration.
Title: Endothelial cell-specific molecule 2 (ECSM2) modulates actin remodeling and epidermal growth factor receptor signaling.
Observational study of gene-disease association. (HuGE Navigator)
Title: Integrated genomic analysis implicates haploinsufficiency of multiple chromosome 5q31.2 genes in de novo myelodysplastic syndromes pathogenesis.
Characterize a novel cell surface protein ECSM2 that regulates endothelial chemotaxis and tube formation, and interacts with filamin A.
Title: ECSM2, an endothelial specific filamin a binding protein that mediates chemotaxis.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. 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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

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

Process	Evidence Code	Pubs
involved_in angiogenesis	IEA Inferred from Electronic Annotation more info
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in chemotaxis	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of angiogenesis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within negative regulation of angiogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of endothelial cell apoptotic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within positive regulation of endothelial cell apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of proteasomal protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within positive regulation of proteasomal protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: endothelial cell-specific chemotaxis regulator

Names: apoptosis regulator through modulating IAP expression; endothelial cell-specific molecule 2

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_001077693.4 → NP_001071161.1 endothelial cell-specific chemotaxis regulator isoform 1 precursor

See identical proteins and their annotated locations for NP_001071161.1

Status: REVIEWED

Description

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

Source sequence(s)

AI699314, EU025066

Consensus CDS

CCDS75317.1

UniProtKB/Swiss-Prot

B4E3H7, C3RSF2, Q19T08

Related

ENSP00000479243.1, ENST00000618155.3

Conserved Domains (1) summary

pfam15820
Location:101 → 203

ECSCR; Endothelial cell-specific chemotaxis regulator
NM_001293739.2 → NP_001280668.1 endothelial cell-specific chemotaxis regulator isoform 2 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate splice site in the 3' terminal exon, compared to variant 1, resulting in an isoform (2) that has a distinct C-terminus and is 1 aa shorter than isoform 1.

Source sequence(s)

AC142391, AC188049, AI699314, BI834795, EU025066

UniProtKB/Swiss-Prot

Q19T08

Conserved Domains (1) summary

pfam15820
Location:101 → 203

ECSCR; Endothelial cell-specific chemotaxis regulator

RNA

NR_121659.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3) contains an additional internal exon and uses an alternate splice site in the 3' terminal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

ABBA01026462, AC142391, AI699314, BF526332, EU025066