This gene encodes a protein that reduces cell growth by stimulating apoptosis. Alternative splicing and the use of alternative promoters result in multiple transcript variants encoding the same protein. This gene is imprinted in brain where different transcript variants are expressed from each parental allele. Transcript variants initiating from the upstream promoter are expres... See more...

Aliases for BLCAP Gene

Aliases for BLCAP Gene

  • BLCAP Apoptosis Inducing Factor 2 3 5
  • BC10 2 3 4
  • Bladder Cancer Associated Protein 2 3
  • Bladder Cancer-Associated Protein 3 4
  • Bladder Cancer Related Protein (10kD) 3
  • Bladder Cancer 10 KDa Protein 4
  • BLCAP 5
  • Bc10 4

External Ids for BLCAP Gene

Previous GeneCards Identifiers for BLCAP Gene

  • GC20M035874
  • GC20M036784
  • GC20M036831
  • GC20M035579
  • GC20M036130
  • GC20M032881

Summaries for BLCAP Gene

Entrez Gene Summary for BLCAP Gene

  • This gene encodes a protein that reduces cell growth by stimulating apoptosis. Alternative splicing and the use of alternative promoters result in multiple transcript variants encoding the same protein. This gene is imprinted in brain where different transcript variants are expressed from each parental allele. Transcript variants initiating from the upstream promoter are expressed preferentially from the maternal allele, while transcript variants initiating downstream of the interspersed NNAT gene (GeneID:4826) are expressed from the paternal allele. Transcripts at this locus may also undergo A to I editing, resulting in amino acid changes at three positions in the N-terminus of the protein. [provided by RefSeq, Nov 2015]

GeneCards Summary for BLCAP Gene

BLCAP (BLCAP Apoptosis Inducing Factor) is a Protein Coding gene. Diseases associated with BLCAP include Bladder Cancer and Tongue Carcinoma.

UniProtKB/Swiss-Prot Summary for BLCAP Gene

  • May regulate cell proliferation and coordinate apoptosis and cell cycle progression via a novel mechanism independent of both p53/TP53 and NF-kappa-B.

Gene Wiki entry for BLCAP Gene

Additional gene information for BLCAP Gene

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

Genomics for BLCAP Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for BLCAP 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 BLCAP on the GeneHancer Hub at the UCSC Golden Path

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

Top Transcription factor binding sites by QIAGEN in the BLCAP gene promoter:
  • AREB6
  • c-Myc
  • C/EBPalpha
  • HNF-4alpha1
  • NF-kappaB
  • NF-kappaB1
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for BLCAP Gene

Genomic Locations for BLCAP Gene
chr20:37,492,472-37,527,931
(GRCh38/hg38)
Size:
35,460 bases
Orientation:
Minus strand
chr20:36,120,874-36,156,333
(GRCh37/hg19)
Size:
35,460 bases
Orientation:
Minus strand

Genomic View for BLCAP Gene

Genes around BLCAP on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for BLCAP Gene

Proteins for BLCAP Gene

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

    Protein Symbol:
    P62952-BLCAP_HUMAN
    Recommended name:
    Bladder cancer-associated protein
    Protein Accession:
    P62952
    Secondary Accessions:
    • A2A2K7
    • O60629
    • Q9D3B5

    Protein attributes for BLCAP Gene

    Size:
    87 amino acids
    Molecular mass:
    9876 Da
    Quaternary structure:
    No Data Available

neXtProt entry for BLCAP Gene

Post-translational modifications for BLCAP Gene

No Post-translational modifications

No data available for DME Specific Peptides for BLCAP Gene

Domains & Families for BLCAP Gene

Gene Families for BLCAP Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for BLCAP Gene

InterPro:
Blocks:
  • Bladder cancer-related BC10
ProtoNet:

Suggested Antigen Peptide Sequences for BLCAP Gene

GenScript: Design optimal peptide antigens:
  • Bladder cancer 10 kDa protein (BLCAP_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P62952

UniProtKB/Swiss-Prot:

BLCAP_HUMAN :
  • Belongs to the BLCAP family.
Family:
  • Belongs to the BLCAP family.
genes like me logo Genes that share domains with BLCAP: view

Function for BLCAP Gene

Molecular function for BLCAP Gene

UniProtKB/Swiss-Prot Function:
May regulate cell proliferation and coordinate apoptosis and cell cycle progression via a novel mechanism independent of both p53/TP53 and NF-kappa-B.

Phenotypes From GWAS Catalog for BLCAP Gene

Gene Ontology (GO) - Molecular Function for BLCAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21217774
genes like me logo Genes that share ontologies with BLCAP: view
genes like me logo Genes that share phenotypes with BLCAP: view

Animal Model Products

CRISPR Products

miRNA for BLCAP Gene

miRTarBase miRNAs that target BLCAP

Inhibitory RNA Products

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

Clone Products

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

Localization for BLCAP Gene

Subcellular locations from UniProtKB/Swiss-Prot for BLCAP Gene

Membrane. Multi-pass membrane protein.

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 BLCAP gene
Compartment Confidence
extracellular 3
mitochondrion 2
plasma membrane 1
cytoskeleton 1
nucleus 1
endoplasmic reticulum 1
cytosol 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for BLCAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with BLCAP: view

Pathways & Interactions for BLCAP Gene

PathCards logo

SuperPathways for BLCAP Gene

No Data Available

Gene Ontology (GO) - Biological Process for BLCAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process IEA --
GO:0007049 cell cycle IEA --
GO:0030262 apoptotic nuclear changes IDA 17031575
genes like me logo Genes that share ontologies with BLCAP: view

No data available for Pathways by source and SIGNOR curated interactions for BLCAP Gene

Drugs & Compounds for BLCAP Gene

No Compound Related Data Available

Transcripts for BLCAP Gene

mRNA/cDNA for BLCAP Gene

7 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

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

Clone Products

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

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b · 5c
SP1: -
SP2:
SP3: - - - - -
SP4: - - -
SP5: - -

Relevant External Links for BLCAP Gene

GeneLoc Exon Structure for
BLCAP

Expression for BLCAP Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for BLCAP Gene

This gene is overexpressed in Muscle - Skeletal (x5.3).

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

SOURCE GeneReport for Unigene cluster for BLCAP Gene:

Hs.472651

mRNA Expression by UniProt/SwissProt for BLCAP Gene:

P62952-BLCAP_HUMAN
Tissue specificity: Ubiquitous. Expressed in cervical tissues. Down-regulated in bladder invasive carcinoma, renal cell carcinoma and in primary cervical carcinoma.

Evidence on tissue expression from TISSUES for BLCAP Gene

  • Nervous system(4.9)
  • Lung(4.7)
  • Intestine(4.5)
  • Kidney(3.2)
  • Muscle(3)
  • Skin(3)
  • Pancreas(2.7)
  • Eye(2.5)
  • Liver(2.5)
  • Heart(2.3)
  • Spleen(2.2)
  • Blood(2.1)
genes like me logo Genes that share expression patterns with BLCAP: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for BLCAP Gene

Orthologs for BLCAP Gene

This gene was present in the common ancestor of animals.

Orthologs for BLCAP Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia BLCAP 30 31
  • 100 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia BLCAP 30 31
  • 97.7 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia BLCAP 30 31
  • 96.55 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Blcap 30 17 31
  • 95.02 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia BLCAP 31
  • 94 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Blcap 30
  • 93.49 (n)
Chicken
(Gallus gallus)
Aves BLCAP 30 31
  • 86.59 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia BLCAP 31
  • 94 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia blcap 30
  • 78.16 (n)
Str.634 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.12525 30
Zebrafish
(Danio rerio)
Actinopterygii blcap 30 31
  • 84.29 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5031 30
Fruit Fly
(Drosophila melanogaster)
Insecta bc10 31
  • 61 (a)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea Y73E7A.6 31
  • 40 (a)
OneToOne
Species where no ortholog for BLCAP 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)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • 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)

Evolution for BLCAP Gene

ENSEMBL:
Gene Tree for BLCAP (if available)
TreeFam:
Gene Tree for BLCAP (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BLCAP: view image

Paralogs for BLCAP Gene

No data available for Paralogs for BLCAP Gene

Variants for BLCAP Gene

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

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
rs11557676 - p.Lys15Arg
rs11557677 - p.Tyr2Cys
VAR_068909 - p.Gln5Arg

Additional dbSNP identifiers (rs#s) for BLCAP Gene

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

Variant ID Type Subtype PubMed ID
nsv1055206 CNV loss 25217958
nsv585962 CNV loss 21841781
nsv833968 CNV gain 17160897

Variation tolerance for BLCAP Gene

Residual Variation Intolerance Score: 44.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.08; 1.84% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BLCAP Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
BLCAP

SNP Genotyping and Copy Number Assay Products

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

Disorders for BLCAP Gene

MalaCards: The human disease database

(2) MalaCards diseases for BLCAP Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
bladder cancer
  • bladder cancer, somatic
tongue carcinoma
  • tongue cancer
- elite association - COSMIC cancer census association via MalaCards
Search BLCAP in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with BLCAP: view

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

Publications for BLCAP Gene

  1. Human BLCAP transcript: new editing events in normal and cancerous tissues. (PMID: 19908260) Galeano F … Gallo A (International journal of cancer 2010) 3 4 23
  2. Overexpression of BLCAP induces S phase arrest and apoptosis independent of p53 and NF-kappaB in human tongue carcinoma : BLCAP overexpression induces S phase arrest and apoptosis. (PMID: 17031575) Yao J … Wu X (Molecular and cellular biochemistry 2007) 2 3 4
  3. Functional analysis of bladder cancer-related protein gene: a putative cervical cancer tumor suppressor gene in cervical carcinoma. (PMID: 16675915) Zuo Z … Wu X (Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine 2006) 3 4 23
  4. Identification of true differentially expressed mRNAs in a pair of human bladder transitional cell carcinomas using an improved differential display procedure. (PMID: 10197429) Gromova I … Celis JE (Electrophoresis 1999) 2 3 4
  5. BLCAP arrests G₁/S checkpoint and induces apoptosis through downregulation of pRb1 in HeLa cells. (PMID: 26986503) Zhao M … Wu X (Oncology reports 2016) 2 3

Products for BLCAP Gene

Sources for BLCAP Gene