BCAR1 Gene (Protein Coding)

BCAR1 Scaffold Protein, Cas Family Member

GC16M075228
GIFtS:
45
The protein encoded by this gene is a member of the Crk-associated substrate (CAS) family of scaffold proteins, characterized by the presence of multiple protein-protein interaction domains and many serine and tyrosine phosphorylation sites. The encoded protein contains a Src-homology 3 (SH3) domain, a proline-rich domain, a substrate domain which contains 15 repeat of the YxxP... See more...

Aliases for BCAR1 Gene

Aliases for BCAR1 Gene

  • BCAR1 Scaffold Protein, Cas Family Member 2 3 5
  • Cas Scaffolding Protein Family Member 1 2 3 4
  • CASS1 2 3 4
  • CAS 2 3 4
  • Breast Cancer Anti-Estrogen Resistance Protein 1 3 4
  • BCAR1, Cas Family Scaffolding Protein 2 3
  • BCAR1, Cas Family Scaffold Protein 2 3
  • P130Cas 2 3
  • CRKAS 3 4
  • Breast Cancer Anti-Estrogen Resistance 1 2
  • Crk-Associated Substrate P130Cas 3
  • Crk-Associated Substrate 2
  • CRK-Associated Substrate 4
  • P130cas 4
  • BCAR1 5
  • Crkas 2
  • CAS1 3

External Ids for BCAR1 Gene

Previous GeneCards Identifiers for BCAR1 Gene

  • GC16M066192
  • GC16M076223
  • GC16M075001
  • GC16M075042
  • GC16M073820
  • GC16M075262
  • GC16M061013

Summaries for BCAR1 Gene

Entrez Gene Summary for BCAR1 Gene

  • The protein encoded by this gene is a member of the Crk-associated substrate (CAS) family of scaffold proteins, characterized by the presence of multiple protein-protein interaction domains and many serine and tyrosine phosphorylation sites. The encoded protein contains a Src-homology 3 (SH3) domain, a proline-rich domain, a substrate domain which contains 15 repeat of the YxxP consensus phosphorylation motif for Src family kinases, a serine-rich domain, and a bipartite Src-binding domain, which can bind both SH2 and SH3 domains. This adaptor protein functions in multiple cellular pathways, including in cell motility, apoptosis and cell cycle control. Dysregulation of this gene can have a wide range of effects, affecting different pathways, including cardiac development, vascular smooth muscle cells, liver and kidney function, endothelial migration, and cancer. [provided by RefSeq, Sep 2017]

GeneCards Summary for BCAR1 Gene

BCAR1 (BCAR1 Scaffold Protein, Cas Family Member) is a Protein Coding gene. Diseases associated with BCAR1 include Estrogen Resistance and Nephronophthisis 1. Among its related pathways are Integrin Pathway and Development HGF signaling pathway. Gene Ontology (GO) annotations related to this gene include protein kinase binding and SH3 domain binding. An important paralog of this gene is NEDD9.

UniProtKB/Swiss-Prot Summary for BCAR1 Gene

  • Docking protein which plays a central coordinating role for tyrosine kinase-based signaling related to cell adhesion (PubMed:12832404, PubMed:12432078). Implicated in induction of cell migration and cell branching (PubMed:12432078, PubMed:12832404, PubMed:17038317). Involved in the BCAR3-mediated inhibition of TGFB signaling (By similarity).

Gene Wiki entry for BCAR1 Gene

Additional gene information for BCAR1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BCAR1 Gene

Genomics for BCAR1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for BCAR1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BCAR1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BCAR1

Top Transcription factor binding sites by QIAGEN in the BCAR1 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • LCR-F1

Genomic Locations for BCAR1 Gene

Latest Assembly
chr16:75,228,181-75,268,053
(GRCh38/hg38)
Size:
39,873 bases
Orientation:
Minus strand

Previous Assembly
chr16:75,262,079-75,301,905
(GRCh37/hg19 by Entrez Gene)
Size:
39,827 bases
Orientation:
Minus strand

chr16:75,262,928-75,301,951
(GRCh37/hg19 by Ensembl)
Size:
39,024 bases
Orientation:
Minus strand

Alternative Locations (GRCh38/hg38)

  • chr16(PATCHES):58,397-78,373 (-)

Genomic View for BCAR1 Gene

Genes around BCAR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BCAR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BCAR1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for BCAR1 Gene

Proteins for BCAR1 Gene

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  • Protein details for BCAR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P56945-BCAR1_HUMAN
    Recommended name:
    Breast cancer anti-estrogen resistance protein 1
    Protein Accession:
    P56945
    Secondary Accessions:
    • B3KWD7
    • B4DEV4
    • B4DGB5
    • B4DIW5
    • B7Z7X7
    • E9PCL5
    • E9PCV2
    • F5GXA2
    • F5GXV6
    • F5H7Z0
    • F8WA69
    • Q6QEF7

    Protein attributes for BCAR1 Gene

    Size:
    870 amino acids
    Molecular mass:
    93372 Da
    Quaternary structure:
    • Forms complexes in vivo with PTK2/FAK1, adapter protein CRKL and LYN kinase. Can heterodimerize with NEDD9. Component of a complex comprised of SH2D3C, BCAR1/CAS, and CRK (PubMed:12432078). Within the complex, interacts with SH2D3C (via C-terminus), and CRK (PubMed:12432078, PubMed:17174122). Part of a complex comprised of PTPRA, BCAR1, BCAR3 (via SH2 domain) and SRC; the formation of the complex is dependent on intergrin mediated-tyrosine phosphorylation of PTPRA (PubMed:22801373). Interacts with BCAR3 (via Ras-GEF domain); the interaction regulates adhesion-dependent serine phosphorylation (PubMed:22081014). Interacts with SMAD2 and SMAD3 (By similarity). Interacts with NPHP1 (By similarity). Interacts with PTK2B/PYK2 (PubMed:19086031). Interacts (via C-terminus) with SH2D3C/CHAT isoform 2 (via C-terminus) (PubMed:17174122, PubMed:22081014). Interacts with activated CSPG4. Interacts with BMX, INPPL1/SHIP2 and PEAK1. Part of a collagen-stimulated complex involved in cell migration made of CDC42, CRK, TNK2 and BCAR1/p130cas. Interacts with TNK2 via SH3 domains.

    Three dimensional structures from OCA and Proteopedia for BCAR1 Gene

    Alternative splice isoforms for BCAR1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BCAR1 Gene

Protein Expression for BCAR1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for BCAR1 Gene

  • PTK2/FAK1 activation mediates phosphorylation at the YDYVHL motif; phosphorylation is most likely catalyzed by SRC family members. SRC-family kinases are recruited to the phosphorylated sites and can phosphorylate other tyrosine residues. Tyrosine phosphorylation is triggered by integrin-mediated adhesion of cells to the extracellular matrix.
  • Dephosphorylated by PTPN14 at Tyr-128.
  • Phosphorylated by SRC kinase in a EDN1- and PTK2B-mediated manner; phosphorylation strengthens its interaction with BCAR3 as part of the PTK2B/BCAR1/BCAR3/RAP1 signaling pathway.
  • Ubiquitination at Lys702
  • Modification sites at PhosphoSitePlus

Other Protein References for BCAR1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Abcam antibodies for BCAR1

No data available for DME Specific Peptides for BCAR1 Gene

Domains & Families for BCAR1 Gene

Gene Families for BCAR1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for BCAR1 Gene

InterPro:
Blocks:
  • SH3 domain signature

Suggested Antigen Peptide Sequences for BCAR1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ42535 fis, clone BRACE3003595, highly similar to Breast cancer anti-estrogen resistance protein 1 (B3KW85_HUMAN)
  • cDNA FLJ55515, highly similar to Breast cancer anti-estrogen resistanceprotein 1 (B4DIW5_HUMAN)
  • p130cas (BCAR1_HUMAN)
  • Breast cancer anti-estrogen resistance 1, isoform CRA_a (D3DUK1_HUMAN)
  • Breast cancer anti-estrogen resistance 1 (Q6P5Z4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P56945

UniProtKB/Swiss-Prot:

BCAR1_HUMAN :
  • Contains a central domain (substrate domain) containing multiple potential SH2-binding sites and a C-terminal domain containing a divergent helix-loop-helix (HLH) motif. The SH2-binding sites putatively bind CRK, NCK and ABL1 SH2 domains. The HLH motif is absolutely required for the induction of pseudohyphal growth in yeast and mediates heterodimerization with NEDD9 (By similarity).
  • Belongs to the CAS family.
Domain:
  • Contains a central domain (substrate domain) containing multiple potential SH2-binding sites and a C-terminal domain containing a divergent helix-loop-helix (HLH) motif. The SH2-binding sites putatively bind CRK, NCK and ABL1 SH2 domains. The HLH motif is absolutely required for the induction of pseudohyphal growth in yeast and mediates heterodimerization with NEDD9 (By similarity).
  • A serine-rich region promotes activation of the serum response element (SRE).
  • The SH3 domain is necessary for the localization of the protein to focal adhesions and interacts with one proline-rich region of PTK2/FAK11.
Family:
  • Belongs to the CAS family.
genes like me logo Genes that share domains with BCAR1: view

Function for BCAR1 Gene

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  6. Cell Lines for research

Molecular function for BCAR1 Gene

UniProtKB/Swiss-Prot Function:
Docking protein which plays a central coordinating role for tyrosine kinase-based signaling related to cell adhesion (PubMed:12832404, PubMed:12432078). Implicated in induction of cell migration and cell branching (PubMed:12432078, PubMed:12832404, PubMed:17038317). Involved in the BCAR3-mediated inhibition of TGFB signaling (By similarity).

Phenotypes From GWAS Catalog for BCAR1 Gene

Gene Ontology (GO) - Molecular Function for BCAR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 9285683
GO:0017124 SH3 domain binding IEA --
GO:0019901 protein kinase binding IPI 8070403
genes like me logo Genes that share ontologies with BCAR1: view
genes like me logo Genes that share phenotypes with BCAR1: view

Animal Models for BCAR1 Gene

MGI Knock Outs for BCAR1:

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BCAR1

Clone products for research

  • Addgene plasmids for BCAR1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for BCAR1 Gene

Localization for BCAR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BCAR1 Gene

Cell junction, focal adhesion. Cytoplasm. Cell projection, axon. Note=Unphosphorylated form localizes in the cytoplasm (By similarity). Localizes to focal adhesion sites following integrin engagement (By similarity). {ECO:0000250 UniProtKB:Q61140}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BCAR1 gene
Compartment Confidence
cytosol 5
cytoskeleton 4
nucleus 4
plasma membrane 3
extracellular 2
mitochondrion 2
endoplasmic reticulum 2
endosome 2
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for BCAR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001726 ruffle IDA 9472046
GO:0005737 cytoplasm IBA,IDA 8070403
GO:0005829 cytosol TAS --
GO:0005886 colocalizes_with plasma membrane IDA 21245381
GO:0005925 focal adhesion IDA,ISS --
genes like me logo Genes that share ontologies with BCAR1: view

Pathways & Interactions for BCAR1 Gene

PathCards logo

SuperPathways for BCAR1 Gene

SuperPathway Contained pathways
1 RET signaling
Downstream signal transduction
.94
Signaling by PDGF
.94
VEGFA-VEGFR2 Pathway
.78
Signaling by VEGF
.76
2 Focal Adhesion
Focal adhesion
.61
Focal Adhesion
.61
Integrin-mediated Cell Adhesion
.38
3 Sertoli-Sertoli Cell Junction Dynamics
Germ Cell-Sertoli Cell Junction Dynamics
.38
Sertoli-Sertoli Cell Junction Dynamics
.38
Epithelial Tight Junctions
.36
4 Integrin Pathway
FAK1 Signaling
.67
Integrin Pathway
.67
Transendothelial Migration of Leukocytes
.38
5 Integrin alphaIIb beta3 signaling
Integrin alphaIIb beta3 signaling
.74
Platelet Aggregation (Plug Formation)
.74
p130Cas linkage to MAPK signaling for integrins
.01
genes like me logo Genes that share pathways with BCAR1: view

Pathways by source for BCAR1 Gene

1 PharmGKB pathway for BCAR1 Gene
6 GeneGo (Thomson Reuters) pathways for BCAR1 Gene
  • Cell adhesion Integrin-mediated cell adhesion and migration
  • Cell adhesion PLAU signaling
  • Chemotaxis CXCR4 signaling pathway
  • Cytoskeleton remodeling FAK signaling
  • Development Angiotensin signaling via PYK2
13 Qiagen pathways for BCAR1 Gene
  • CCKBR-Gastrin Stimulated Signaling
  • Chemokine Signaling
  • Epithelial Tight Junctions
  • FAK1 Signaling
  • Germ Cell-Sertoli Cell Junction Dynamics
2 Cell Signaling Technology pathways for BCAR1 Gene

SIGNOR curated interactions for BCAR1 Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:
Other effect:

Gene Ontology (GO) - Biological Process for BCAR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001558 regulation of cell growth TAS 11607844
GO:0007015 actin filament organization IDA 16105984
GO:0007155 cell adhesion IEA --
GO:0007165 signal transduction IEA --
GO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway IBA 21873635
genes like me logo Genes that share ontologies with BCAR1: view

Drugs & Compounds for BCAR1 Gene

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(17) Drugs for BCAR1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(10) Additional Compounds for BCAR1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with BCAR1: view

Transcripts for BCAR1 Gene

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mRNA/cDNA for BCAR1 Gene

9 REFSEQ mRNAs :
27 NCBI additional mRNA sequence :
22 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BCAR1

Clone products for research

  • Addgene plasmids for BCAR1

Alternative Splicing Database (ASD) splice patterns (SP) for BCAR1 Gene

No ASD Table

Relevant External Links for BCAR1 Gene

GeneLoc Exon Structure for
BCAR1

Expression for BCAR1 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for BCAR1 Gene

mRNA expression in normal human tissues for BCAR1 Gene
mRNA expression by GTEx for BCAR1 GenemRNA expression by BioGPS for BCAR1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for BCAR1 Gene

This gene is overexpressed in Testis (9.6), Plasma (9.5), Islet of Langerhans (9.1), Fetal Brain (7.3), Placenta (7.2), and Pancreas (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for BCAR1 Gene



Protein tissue co-expression partners for BCAR1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BCAR1

SOURCE GeneReport for Unigene cluster for BCAR1 Gene:

Hs.479747

mRNA Expression by UniProt/SwissProt for BCAR1 Gene:

P56945-BCAR1_HUMAN
Tissue specificity: Widely expressed with an abundant expression in the testis. Low level of expression seen in the liver, thymus, and peripheral blood leukocytes. The protein has been detected in a B-cell line.

Evidence on tissue expression from TISSUES for BCAR1 Gene

  • Eye(4.9)
  • Nervous system(4.9)
  • Bone(4.8)
  • Lung(4.8)
  • Skin(4.8)
  • Muscle(4.7)
  • Pancreas(4.5)
  • Kidney(4.3)
  • Intestine(4.1)
  • Blood(3.7)
  • Heart(3.4)
  • Liver(3.3)
  • Stomach(2.5)
  • Spleen(2.3)
genes like me logo Genes that share expression patterns with BCAR1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for BCAR1 Gene

Orthologs for BCAR1 Gene

This gene was present in the common ancestor of animals.

Orthologs for BCAR1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia BCAR1 29 30
  • 99.55 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia BCAR1 29 30
  • 88.34 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia BCAR1 29 30
  • 86.7 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Bcar1 29
  • 85.31 (n)
Mouse
(Mus musculus)
 Mammalia Bcar1 29 16 30
  • 85.22 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia BCAR1 30
  • 76 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves BCAR1 29 30
  • 72.39 (n)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia bcar1 29
  • 59.58 (n)
Str.15275 29
African clawed frog
(Xenopus laevis)
 Amphibia MGC68466 29
Zebrafish
(Danio rerio)
 Actinopterygii bcar1 29 30
  • 65.18 (n)
 OneToOne
Dr.4707 29
Fruit Fly
(Drosophila melanogaster)
 Insecta p130CAS 30
  • 27 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.6681 30
  • 30 (a)
 OneToMany
Species where no ortholog for BCAR1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for BCAR1 Gene

ENSEMBL:
Gene Tree for BCAR1 (if available)
TreeFam:
Gene Tree for BCAR1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BCAR1: view image
Alliance of Genome Resources:
Additional Orthologs for BCAR1

Paralogs for BCAR1 Gene

Paralogs for BCAR1 Gene

(3) SIMAP similar genes for BCAR1 Gene using alignment to 14 proteins:

  • BCAR1_HUMAN
  • B3KW85_HUMAN
  • D3DUK1_HUMAN
  • F5H855_HUMAN
  • H3BN62_HUMAN
  • H3BP62_HUMAN
  • H3BQJ7_HUMAN
  • H3BSB2_HUMAN
  • H3BSY4_HUMAN
  • H3BTB0_HUMAN
  • H3BTL5_HUMAN
  • H3BU42_HUMAN
  • H3BVF0_HUMAN
  • Q6P5Z4_HUMAN

Pseudogenes.org Pseudogenes for BCAR1 Gene

genes like me logo Genes that share paralogs with BCAR1: view

Variants for BCAR1 Gene

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  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BCAR1 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
rs112019183 Likely Benign: not provided 75,235,064(-) G/A
NM_014567.5(BCAR1):c.1835C>T (p.Ala612Val) 		MISSENSE
rs112060276 Benign: not provided 75,235,831(-) C/T
NM_014567.5(BCAR1):c.1068G>A (p.Pro356=) 		SYNONYMOUS
rs144649739 Benign: not provided 75,233,868(-) T/C
NM_014567.5(BCAR1):c.2078A>G (p.Lys693Arg) 		MISSENSE
rs144989936 A breast cancer sample p.Ser407Thr
rs145903338 Benign: not provided 75,235,666(-) C/T
NM_014567.5(BCAR1):c.1233G>A (p.Ala411=) 		SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for BCAR1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for BCAR1 Gene

Variant ID Type Subtype PubMed ID
esv3582321 CNV loss 25503493
esv3582322 CNV loss 25503493
nsv149 OTHER inversion 15895083
nsv471095 CNV loss 18288195
nsv516504 CNV gain+loss 19592680
nsv523405 CNV loss 19592680
nsv7286 OTHER inversion 18451855
nsv833282 CNV gain+loss 17160897
nsv9459 CNV gain 18304495
nsv978002 CNV duplication 23825009

Variation tolerance for BCAR1 Gene

Residual Variation Intolerance Score: 75.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.52; 71.95% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BCAR1 Gene

Human Gene Mutation Database (HGMD)
BCAR1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BCAR1
Leiden Open Variation Database (LOVD)
BCAR1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BCAR1 Gene

Disorders for BCAR1 Gene

MalaCards: The human disease database

(11) MalaCards diseases for BCAR1 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
estrogen resistance
  • estrr
nephronophthisis 1
  • nphp1
cystic kidney disease
  • renal cyst
differentiating neuroblastoma
cerebral hypoxia
  • brain hypoxia
- elite association - COSMIC cancer census association via MalaCards
Search BCAR1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for BCAR1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with BCAR1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BCAR1 Gene

Publications for BCAR1 Gene

  1. BCAR1, a human homologue of the adapter protein p130Cas, and antiestrogen resistance in breast cancer cells. (PMID: 10639512) Brinkman A ā€¦ Dorssers LC (Journal of the National Cancer Institute 2000) 2 3 4 22
  2. Pyk2 mediates endothelin-1 signaling via p130Cas/BCAR3 cascade and regulates human glomerular mesangial cell adhesion and spreading. (PMID: 19086031) Rufanova VA ā€¦ Sorokin A (Journal of cellular physiology 2009) 3 4 22
  3. The 1.1 A resolution crystal structure of the p130cas SH3 domain and ramifications for ligand selectivity. (PMID: 15784259) Wisniewska M ā€¦ Engh RA (Journal of molecular biology 2005) 3 4 22
  4. Melanoma chondroitin sulphate proteoglycan regulates cell spreading through Cdc42, Ack-1 and p130cas. (PMID: 10587647) Eisenmann KM ā€¦ Iida J (Nature cell biology 1999) 3 4 22
  5. NSP-Cas protein structures reveal a promiscuous interaction module in cell signaling. (PMID: 22081014) Mace PD ā€¦ Riedl SJ (Nature structural & molecular biology 2011) 3 4

ExternalLinks

View latest publications for BCAR1 gene in Mastermind

Products for BCAR1 Gene

  • Addgene plasmids for BCAR1

Sources for BCAR1 Gene