BCAR3 BCAR3 adaptor protein, NSP family member [Homo sapiens (human)] - Gene

Summary

Official Symbol: BCAR3provided by HGNC
Official Full Name: BCAR3 adaptor protein, NSP family memberprovided by HGNC
Primary source: HGNC:HGNC:973
See related: Ensembl:ENSG00000137936 MIM:604704
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: MIG7; NSP2; AND-34; SH2D3B
Summary: Breast tumors are initially dependent on estrogens for growth and progression and can be inhibited by anti-estrogens such as tamoxifen. However, breast cancers progress to become anti-estrogen resistant. Breast cancer anti-estrogen resistance gene 3 was identified in the search for genes involved in the development of estrogen resistance. The gene encodes a component of intracellular signal transduction that causes estrogen-independent proliferation in human breast cancer cells. The protein contains a putative src homology 2 (SH2) domain, a hall mark of cellular tyrosine kinase signaling molecules, and is partly homologous to the cell division cycle protein CDC48. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
Expression: Ubiquitous expression in fat (RPKM 13.8), placenta (RPKM 6.5) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p22.1

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
109.20211119	current	GRCh38.p13 (GCF_000001405.39)	1	NC_000001.11 (93561741..93847219, complement)
105.20201022	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (94027298..94312775, complement)

Chromosome 1 - NC_000001.11 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?

A Cas-BCAR3 co-regulatory circuit controls lamellipodia dynamics.
Title: A Cas-BCAR3 co-regulatory circuit controls lamellipodia dynamics.
MIG-7 mRNA expression may serve as an additional molecular marker of vasculogenic mimicry in ovarian malignancies.
Title: Mig-7 expression and vasculogenic mimicry in malignant ovarian tumors.
Study provides evidence that MIG7 expression in hepatocellular carcinoma (HCC) tissue is correlated positively with vasculogenic mimicry (VM) formation and MIG7 expression in different HCC cell lines is coincident with their VM formation, invasion and metastasis.
Title: MIG7 is involved in vasculogenic mimicry formation rendering invasion and metastasis in hepatocellular carcinoma.
this study indicates that the expression of Mig-7 in gliomas is positively correlated with vasculogenic mimicry formation and is related to the glioma pathological grade
Title: Silencing of Mig-7 expression inhibits in-vitro invasiveness and vasculogenic mimicry of human glioma U87 Cells.
MIG-7 serves as an independent unfavorable prognostic indicator in osteosarcoma patients and MIG-7 is an important mediator of osteosarcoma Vascular Mimicry formation.
Title: Migration-inducing gene-7 independently predicts poor prognosis of human osteosarcoma and is associated with vasculogenic mimicry.
The high expressions of Mig-7 and MMP-2 in gastric carcinoma tissues may have a synergistic promoting effect on VM formation. VM is closely associated with the invasion, metastasis and poor prognosis of gastric carcinoma.
Title: [Expressions and clinical significance of vasculogenic mimicry and related protein Mig-7 and MMP-2 in gastric carcinoma].
MIG7 expression in hepatocellular carcinoma tissue is high and correlated positively with vasculogenic mimicry formation, invasion and metastasis.
Title: [MIG7 Regulates the Vasculogenic Mimicry Formation in Hepatocellular Carcinoma then Effects the Metastasis Potential of HCC].
Silencing of Mig-7 gene inhibits vasculogenic mimicry formation and invasion of U251 cells possibly by suppressing MEK/ERK signaling, suggesting the important role of Mig-7 gene in vasculogenic mimicry formation and invasion of human glioma cells
Title: [Mig-<i>7</i> gene silencing inhibits vasculogenic mimicry formation and invasion of glioma U251 cells <i>in vitro</i> by suppressing MEK/ERK signaling].
Inhibiting MIG-7 by RNA interference in grafted EOC cells retarded tumor growth, angiogenesis and improved host survival, and suppressing MIG-7 expression with a small molecule inhibitor D-39 identified from the mitigated EOC growth and invasion and specifically abrogated the expression of vascular endothelial growth factor.
Title: Migration-inducing gene 7 promotes tumorigenesis and angiogenesis and independently predicts poor prognosis of epithelial ovarian cancer.
miR-126-5p negatively regulated BCAR3 expression in eutopic endometriosis, enhanced the migration and invasion of endometrial cells, and promoted the occurrence of endometriosis.
Title: MicroRNA-126-5p downregulates BCAR3 expression to promote cell migration and invasion in endometriosis.

Submit: New GeneRIF Correction See all GeneRIFs (27)

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

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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Markers

G19821 (e-PCR)
- UniSTS:17692

A001Z29 (e-PCR)
- UniSTS:17693

RH64611 (e-PCR)
- UniSTS:72489

SHGC-144640 (e-PCR)
- UniSTS:172329

AL009351 (e-PCR)
- UniSTS:4675

RH18230 (e-PCR)
- UniSTS:15191

RH11826 (e-PCR)
- UniSTS:33937

SHGC-75138 (e-PCR)
- UniSTS:23965

SHGC-33752 (e-PCR)
- UniSTS:77491

SHGC-75163 (e-PCR)
- UniSTS:80573

SHGC-75137 (e-PCR)
- UniSTS:50629

WI-18126 (e-PCR)
- UniSTS:20696

SHGC-75160 (e-PCR)
- UniSTS:20209

Homology

Homologs of the BCAR3 gene: The BCAR3 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 409 organisms have orthologs with human gene BCAR3
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables guanyl-nucleotide exchange factor activity	IEA Inferred from Electronic Annotation more info
enables kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables phosphotyrosine residue binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in endothelin receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in insulin receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lens morphogenesis in camera-type eye	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of DNA replication	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of GTPase activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of MAPK cascade	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of epidermal growth factor receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of peptidyl-serine phosphorylation	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in response to xenobiotic stimulus	TAS Traceable Author Statement more info	PubMed
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed
involved_in small GTPase mediated signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in focal adhesion	ISS Inferred from Sequence or Structural Similarity more info
located_in membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: breast cancer anti-estrogen resistance protein 3

Names: BCAR3, NSP family adaptor protein; SH2 domain-containing protein 3B; breast cancer anti-estrogen resistance 3; breast cancer antiestrogen resistance 3 protein; dJ1033H22.2 (breast cancer anti-estrogen resistance 3); epididymis secretory sperm binding protein; mig-7; migration inducting gene-7; novel SH2-containing protein 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_001261408.2 → NP_001248337.1 breast cancer anti-estrogen resistance protein 3 isoform 1

See identical proteins and their annotated locations for NP_001248337.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2 and 3 encode the same protein (isoform 1).

Source sequence(s)

AL049796, AL109613, BC028477, BQ015705

Consensus CDS

CCDS745.1

UniProtKB/Swiss-Prot

O75815

Related

ENSP00000359264.1, ENST00000370244.5

Conserved Domains (2) summary

cd10337
Location:147 → 282

SH2_BCAR3; Src homology 2 (SH2) domain in the Breast Cancer Anti-estrogen Resistance protein 3

smart00147
Location:544 → 819

RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
NM_001261409.1 → NP_001248338.1 breast cancer anti-estrogen resistance protein 3 isoform 1

See identical proteins and their annotated locations for NP_001248338.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein (isoform 1).

Source sequence(s)

AK027785, AK055442, BQ015705, DA745974

Consensus CDS

CCDS745.1

UniProtKB/Swiss-Prot

O75815

UniProtKB/TrEMBL

B3KNL6, B3KP06

Related

ENSP00000359263.1, ENST00000370243.1

Conserved Domains (2) summary

cd10337
Location:147 → 282

SH2_BCAR3; Src homology 2 (SH2) domain in the Breast Cancer Anti-estrogen Resistance protein 3

smart00147
Location:544 → 819

RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
NM_001261410.2 → NP_001248339.1 breast cancer anti-estrogen resistance protein 3 isoform 2

See identical proteins and their annotated locations for NP_001248339.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at an alternate start codon compared to variant 1. The resulting protein (isoform 2) is shorter and has a distinct N-terminus compared to isoform 1.

Source sequence(s)

AL109613, AL833121, BQ015705

Consensus CDS

CCDS58010.1

UniProtKB/Swiss-Prot

O75815

Related

ENSP00000359267.3, ENST00000370247.7

Conserved Domains (2) summary

cd10337
Location:56 → 191

SH2_BCAR3; Src homology 2 (SH2) domain in the Breast Cancer Anti-estrogen Resistance protein 3

smart00147
Location:453 → 728

RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
NM_001308251.1 → NP_001295180.1 breast cancer anti-estrogen resistance protein 3 isoform 3

See identical proteins and their annotated locations for NP_001295180.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) contains an alternate exon in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (3) has a significantly shorter N-terminus, compared to isoform 1.

Source sequence(s)

AK310970, AW470748, AY358996

Consensus CDS

CCDS76181.1

UniProtKB/Swiss-Prot

O75815

Related

ENSP00000441343.1, ENST00000539242.5

Conserved Domains (1) summary

smart00147
Location:220 → 495

RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
NM_003567.4 → NP_003558.1 breast cancer anti-estrogen resistance protein 3 isoform 1

See identical proteins and their annotated locations for NP_003558.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein (isoform 1).

Source sequence(s)

AF124250, AL109613, BQ015705, CN337133

Consensus CDS

CCDS745.1

UniProtKB/Swiss-Prot

O75815

Related

ENSP00000260502.6, ENST00000260502.11

Conserved Domains (2) summary

cd10337
Location:147 → 282

SH2_BCAR3; Src homology 2 (SH2) domain in the Breast Cancer Anti-estrogen Resistance protein 3

smart00147
Location:544 → 819

RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases