The protein encoded by this gene, basigin, is a plasma membrane protein that is important in spermatogenesis, embryo implantation, neural network formation, and tumor progression. Basigin is also a member of the immunoglobulin superfamily, ubiquitously expressed in various tissues. Multiple transcript variants encoding different isoforms have been found for this gene. [provided... See more...

Aliases for BSG Gene

Aliases for BSG Gene

  • Basigin (Ok Blood Group) 2 3 5
  • Tumor Cell-Derived Collagenase Stimulatory Factor 2 3 4
  • Extracellular Matrix Metalloproteinase Inducer 2 3 4
  • Basigin 2 3 4
  • EMMPRIN 2 3 4
  • Leukocyte Activation Antigen M6 3 4
  • Collagenase Stimulatory Factor 3 4
  • Hepatoma-Associated Antigen 3 4
  • OK Blood Group Antigen 3 4
  • EMPRIN 2 3
  • HAb18G 3 4
  • CD147 2 3
  • TCSF 3 4
  • 5F7 3 4
  • Ok Blood Group 2
  • CD147 Antigen 4
  • SLC7A11 3
  • BSG 5
  • OK 3

External Ids for BSG Gene

Previous HGNC Symbols for BSG Gene

  • OK

Previous GeneCards Identifiers for BSG Gene

  • GC19P000624
  • GC19P000511
  • GC19P000523
  • GC19P000522
  • GC19P000462
  • GC19P000342

Summaries for BSG Gene

Entrez Gene Summary for BSG Gene

  • The protein encoded by this gene, basigin, is a plasma membrane protein that is important in spermatogenesis, embryo implantation, neural network formation, and tumor progression. Basigin is also a member of the immunoglobulin superfamily, ubiquitously expressed in various tissues. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2020]

GeneCards Summary for BSG Gene

BSG (Basigin (Ok Blood Group)) is a Protein Coding gene. Diseases associated with BSG include Severe Acute Respiratory Syndrome and Ameloblastoma. Among its related pathways are Degradation of the extracellular matrix and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include mannose binding. An important paralog of this gene is NPTN.

UniProtKB/Swiss-Prot Summary for BSG Gene

  • [Isoform 1]: Essential for normal retinal maturation and development (By similarity). Acts as a retinal cell surface receptor for NXNL1 and plays an important role in NXNL1-mediated survival of retinal cone photoreceptors (PubMed:25957687). In association with glucose transporter SLC16A1/GLUT1 and NXNL1, promotes retinal cone survival by enhancing aerobic glycolysis and accelerating the entry of glucose into photoreceptors (PubMed:25957687). May act as a potent stimulator of IL6 secretion in multiple cell lines that include monocytes (PubMed:21620857).
  • [Isoform 2]: Signaling receptor for cyclophilins, essential for PPIA/CYPA and PPIB/CYPB-dependent signaling related to chemotaxis and adhesion of immune cells (PubMed:11943775, PubMed:11688976). Plays an important role in targeting monocarboxylate transporters SLC16A1/GLUT1, SLC16A11 and SLC16A12 to the plasma membrane (PubMed:17127621, PubMed:21778275, PubMed:28666119). Acts as a coreceptor for vascular endothelial growth factor receptor 2 (KDR/VEGFR2) in endothelial cells enhancing its VEGFA-mediated activation and downstream signaling (PubMed:25825981). Promotes angiogenesis through EPAS1/HIF2A-mediated up-regulation of VEGFA (isoform VEGF-165 and VEGF-121) and KDR/VEGFR2 in endothelial cells (PubMed:19837976). Plays a key role in regulating tumor growth, invasion, metastasis and neoangiogenesis by stimulating the production and release of extracellular matrix metalloproteinases and KDR/VEGFR2 by both tumor cells and stromal cells (fibroblasts and endothelial cells) (PubMed:12553375, PubMed:11992541, PubMed:15833850).
  • [Isoform 1]: (Microbial infection) Erythrocyte receptor for P.falciparum RH5 which is essential for erythrocyte invasion by the merozoite stage of P.falciparum isolates 3D7 and Dd2.
  • [Isoform 2]: (Microbial infection) Erythrocyte receptor for P.falciparum RH5 which is essential for erythrocyte invasion by the merozoite stage of P.falciparum isolates 3D7, Dd2, 7G8 and HB3 (PubMed:22080952, PubMed:26195724). Binding of P.falciparum RH5 results in BSG dimerization which triggers an increase in intracellular Ca(2+) in the erythrocyte (PubMed:28409866). This essential step leads to a rearrangement of the erythrocyte cytoskeleton required for the merozoite invasion (PubMed:28409866).
  • [Isoform 2]: (Microbial infection) Can facilitate human SARS coronavirus (SARS-CoV-1) infection via its interaction with virus-associated PPIA/CYPA.
  • [Isoform 2]: (Microbial infection) Can facilitate HIV-1 infection via its interaction with virus-associated PPIA/CYPA.
  • [Isoform 2]: (Microbial infection) Acts as a receptor for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2).
  • [Isoform 2]: (Microbial infection) Acts as a receptor for measles virus.
  • [Isoform 2]: (Microbial infection) Promotes entry of pentamer-expressing human cytomegalovirus (HCMV) into epithelial and endothelial cells.

Gene Wiki entry for BSG Gene

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

Genomics for BSG Gene

GeneHancer (GH) Regulatory Elements Pubs

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

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

Top Transcription factor binding sites by QIAGEN in the BSG gene promoter:
  • AP-1
  • AP-2alpha

Genomic Locations for BSG Gene

Latest Assembly
chr19:571,277-583,494
(GRCh38/hg38)
Size:
12,218 bases
Orientation:
Plus strand

Previous Assembly
chr19:571,283-583,493
(GRCh37/hg19 by Entrez Gene)
Size:
12,211 bases
Orientation:
Plus strand

chr19:571,297-583,493
(GRCh37/hg19 by Ensembl)
Size:
12,197 bases
Orientation:
Plus strand

Genomic View for BSG Gene

Genes around BSG on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for BSG Gene

Proteins for BSG Gene

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

    Protein Symbol:
    P35613-BASI_HUMAN
    Recommended name:
    Basigin
    Protein Accession:
    P35613
    Secondary Accessions:
    • A6NJW1
    • D3YLG5
    • Q7Z796
    • Q8IZL7

    Protein attributes for BSG Gene

    Size:
    385 amino acids
    Molecular mass:
    42200 Da
    Quaternary structure:
    • [Isoform 1]: Homooligomer (PubMed:19768682). Interacts with NXNL1 (PubMed:25957687). Interacts with SLC2A1 and SLC16A1/GLUT1 (By similarity).
    • [Isoform 2]: Homooligomer (PubMed:18430721). Forms heterooligomers with isoform 3 (PubMed:21536654). Interacts with VEGFA and KDR/VEGFR2 (PubMed:25825981). Interacts with PPIA/CYPA (PubMed:11353871, PubMed:11943775, PubMed:15688292, PubMed:21245143). Interacts with PPIL2; regulates BSG transport to the cell membrane (PubMed:15946952). Interacts with SLC16A1/GLUT1 (PubMed:17127621). Interacts with SLC16A12 (PubMed:21778275). Interacts with SLC16A11 (PubMed:28666119). Interacts with AJAP1 (PubMed:17267690). Interacts with SLC1A3, ATP1B2, MAG and L1CAM (By similarity).
    • [Isoform 3]: Forms heterooligomers with isoform 2.
    • [Isoform 1]: (Microbial infection) Interacts with P.falciparum (isolate 3D7) RH5/PfRH5; the interaction is required for the invasion of the host erythrocytes by the parasite at the merozoite stage.
    • [Isoform 2]: (Microbial infection) Interacts with P.falciparum (isolates 3D7 or 7G8) RH5/PfRH5; the interaction is required for the invasion of the host erythrocytes by the parasite at the merozoite stage.
    • [Isoform 2]: (Microbial infection) Interacts with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) spike glycoprotein.
    Miscellaneous:
    • [Isoform 3]: Produced by alternative promoter usage.
    • [Isoform 4]: Produced by alternative promoter usage.

    Three dimensional structures from OCA and Proteopedia for BSG Gene

    Alternative splice isoforms for BSG Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BSG Gene

Post-translational modifications for BSG Gene

  • [Isoform 2]: N-glycosylated.
  • [Isoform 3]: N-glycosylated.
  • [Isoform 4]: N-glycosylated.
  • Glycosylation at Thr145, Asn160, Asn268, and Asn302
  • Ubiquitination at Lys227, Lys243, Lys257, Lys264, Lys173, Lys179, and Lys307
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Antibodies for research

  • Abcam antibodies for BSG

No data available for DME Specific Peptides for BSG Gene

Domains & Families for BSG Gene

Gene Families for BSG Gene

HGNC:
Human Protein Atlas (HPA):
  • Blood group antigen proteins
  • CD markers
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for BSG Gene

InterPro:
Blocks:
  • Immunoglobulin C-2 type
  • Immunoglobulin subtype

Suggested Antigen Peptide Sequences for BSG Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ52516, moderately similar to Basigin (A8MZ77_HUMAN)
  • Tumor cell-derived collagenase stimulatory factor (BASI_HUMAN)
genes like me logo Genes that share domains with BSG: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for BSG Gene

Function for BSG Gene

Molecular function for BSG Gene

UniProtKB/Swiss-Prot Function:
[Isoform 1]: Essential for normal retinal maturation and development (By similarity). Acts as a retinal cell surface receptor for NXNL1 and plays an important role in NXNL1-mediated survival of retinal cone photoreceptors (PubMed:25957687). In association with glucose transporter SLC16A1/GLUT1 and NXNL1, promotes retinal cone survival by enhancing aerobic glycolysis and accelerating the entry of glucose into photoreceptors (PubMed:25957687). May act as a potent stimulator of IL6 secretion in multiple cell lines that include monocytes (PubMed:21620857).
UniProtKB/Swiss-Prot Function:
[Isoform 2]: Signaling receptor for cyclophilins, essential for PPIA/CYPA and PPIB/CYPB-dependent signaling related to chemotaxis and adhesion of immune cells (PubMed:11943775, PubMed:11688976). Plays an important role in targeting monocarboxylate transporters SLC16A1/GLUT1, SLC16A11 and SLC16A12 to the plasma membrane (PubMed:17127621, PubMed:21778275, PubMed:28666119). Acts as a coreceptor for vascular endothelial growth factor receptor 2 (KDR/VEGFR2) in endothelial cells enhancing its VEGFA-mediated activation and downstream signaling (PubMed:25825981). Promotes angiogenesis through EPAS1/HIF2A-mediated up-regulation of VEGFA (isoform VEGF-165 and VEGF-121) and KDR/VEGFR2 in endothelial cells (PubMed:19837976). Plays a key role in regulating tumor growth, invasion, metastasis and neoangiogenesis by stimulating the production and release of extracellular matrix metalloproteinases and KDR/VEGFR2 by both tumor cells and stromal cells (fibroblasts and endothelial cells) (PubMed:12553375, PubMed:11992541, PubMed:15833850).
UniProtKB/Swiss-Prot Function:
[Isoform 1]: (Microbial infection) Erythrocyte receptor for P.falciparum RH5 which is essential for erythrocyte invasion by the merozoite stage of P.falciparum isolates 3D7 and Dd2.
UniProtKB/Swiss-Prot Function:
[Isoform 2]: (Microbial infection) Erythrocyte receptor for P.falciparum RH5 which is essential for erythrocyte invasion by the merozoite stage of P.falciparum isolates 3D7, Dd2, 7G8 and HB3 (PubMed:22080952, PubMed:26195724). Binding of P.falciparum RH5 results in BSG dimerization which triggers an increase in intracellular Ca(2+) in the erythrocyte (PubMed:28409866). This essential step leads to a rearrangement of the erythrocyte cytoskeleton required for the merozoite invasion (PubMed:28409866).
UniProtKB/Swiss-Prot Function:
[Isoform 2]: (Microbial infection) Can facilitate human SARS coronavirus (SARS-CoV-1) infection via its interaction with virus-associated PPIA/CYPA.
UniProtKB/Swiss-Prot Function:
[Isoform 2]: (Microbial infection) Can facilitate HIV-1 infection via its interaction with virus-associated PPIA/CYPA.
UniProtKB/Swiss-Prot Function:
[Isoform 2]: (Microbial infection) Acts as a receptor for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2).
UniProtKB/Swiss-Prot Function:
[Isoform 2]: (Microbial infection) Acts as a receptor for measles virus.
UniProtKB/Swiss-Prot Function:
[Isoform 2]: (Microbial infection) Promotes entry of pentamer-expressing human cytomegalovirus (HCMV) into epithelial and endothelial cells.
GENATLAS Biochemistry:
basigin,widely expressed,involved in cell recognition,broadly expressed on hematopoietic cells stimulating nearly fibroblasts to synthesize matrix metalloproteinases,member of the Ig superfamily

Phenotypes From GWAS Catalog for BSG Gene

Gene Ontology (GO) - Molecular Function for BSG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001618 virus receptor activity IEA --
GO:0005515 protein binding IEA,IPI 11353871
GO:0005537 mannose binding IEA --
GO:0030246 carbohydrate binding IEA --
GO:0038023 signaling receptor activity IDA --
genes like me logo Genes that share ontologies with BSG: view
genes like me logo Genes that share phenotypes with BSG: view

Animal Models for BSG Gene

MGI Knock Outs for BSG:
  • Bsg Bsg<tm1Tmu>

Inhibitory RNAs for research

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

Clone products for research

  • Addgene plasmids for BSG

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

Localization for BSG Gene

Subcellular locations from UniProtKB/Swiss-Prot for BSG Gene

Melanosome. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. {ECO:0000269 PubMed:17081065}.
[Isoform 1]: Cell membrane. Single-pass type I membrane protein. Photoreceptor inner segment. Cell projection, cilium, photoreceptor outer segment.
[Isoform 2]: Cell membrane. Single-pass type I membrane protein. Endosome. Endoplasmic reticulum membrane. Single-pass type I membrane protein. Basolateral cell membrane. Single-pass type I membrane protein.
[Isoform 3]: Cell membrane. Single-pass type I membrane protein.
[Isoform 4]: Cell membrane. Single-pass type I 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 BSG gene
Compartment Confidence
plasma membrane 5
extracellular 5
endosome 5
mitochondrion 4
golgi apparatus 4
endoplasmic reticulum 3
cytoskeleton 2
nucleus 2
cytosol 2
lysosome 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for BSG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0001750 photoreceptor outer segment IEA --
GO:0001917 photoreceptor inner segment IEA --
GO:0002080 acrosomal membrane IEA --
GO:0005739 mitochondrion HDA 20833797
genes like me logo Genes that share ontologies with BSG: view

Pathways & Interactions for BSG Gene

genes like me logo Genes that share pathways with BSG: view

Pathways by source for BSG Gene

Gene Ontology (GO) - Biological Process for BSG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis IEA --
GO:0003407 neural retina development ISS --
GO:0006090 pyruvate metabolic process TAS --
GO:0007155 cell adhesion IEA --
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules IBA 21873635
genes like me logo Genes that share ontologies with BSG: view

No data available for SIGNOR curated interactions for BSG Gene

Drugs & Compounds for BSG Gene

(17) Drugs for BSG Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

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

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

Transcripts for BSG Gene

mRNA/cDNA for BSG Gene

5 REFSEQ mRNAs :
23 NCBI additional mRNA sequence :
21 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 BSG

Clone products for research

  • Addgene plasmids for BSG

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

ExUns: 1a · 1b ^ 2a · 2b · 2c · 2d ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c · 5d · 5e ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b · 8c · 8d ^ 9 ^ 10 ^ 11a · 11b ·
SP1: - - - -
SP2: - - - - -
SP3: - - - - -
SP4: -
SP5: - - - - - - - - -
SP6: - - - - - -
SP7: - - - - - - - - - - - - -
SP8: - - - - - - - - -
SP9: - - - - - - - - -
SP10: - - - -
SP11: - - - - - - - - - -
SP12: - -
SP13: -

ExUns: 11c
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for BSG Gene

GeneLoc Exon Structure for
BSG

Expression for BSG Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Heart - Left Ventricle (x4.2).

Protein differential expression in normal tissues from HIPED for BSG Gene

This gene is overexpressed in Nasal epithelium (13.1) and Retina (7.9).

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



Protein tissue co-expression partners for BSG Gene

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

SOURCE GeneReport for Unigene cluster for BSG Gene:

Hs.501293

mRNA Expression by UniProt/SwissProt for BSG Gene:

P35613-BASI_HUMAN
Tissue specificity: [Isoform 1]: Retina-specific (PubMed:25957687). Expressed in retinal cone photoreceptors (at protein level) (PubMed:25957687).

Evidence on tissue expression from TISSUES for BSG Gene

  • Nervous system(5)
  • Eye(4.9)
  • Liver(4.8)
  • Intestine(4.8)
  • Lung(4.8)
  • Skin(4.7)
  • Kidney(4.6)
  • Pancreas(4.4)
  • Heart(4.1)
  • Muscle(3.7)
  • Blood(3.7)
  • Thyroid gland(3.5)
  • Stomach(3.2)
  • Bone marrow(3.2)
  • Lymph node(3)
  • Spleen(2.9)
  • Bone(2.8)
  • Adrenal gland(2.5)
  • Gall bladder(2.4)
genes like me logo Genes that share expression patterns with BSG: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for BSG Gene

Orthologs for BSG Gene

This gene was present in the common ancestor of animals.

Orthologs for BSG Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia BSG 29 30
  • 96.24 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Bsg 29
  • 74.72 (n)
Mouse
(Mus musculus)
Mammalia Bsg 29 16 30
  • 72.47 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia BSG 30
  • 59 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia BSG 30
  • 57 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia BSG 30
  • 48 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia BSG 30
  • 46 (a)
OneToOne
Chicken
(Gallus gallus)
Aves BSG 29 30
  • 63.49 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia BSG 30
  • 64 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii bsg 29 30
  • 57.43 (n)
ManyToMany
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2134 29
Fruit Fly
(Drosophila melanogaster)
Insecta Bsg 30
  • 10 (a)
OneToMany
Species where no ortholog for BSG was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for BSG Gene

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

Paralogs for BSG Gene

Paralogs for BSG Gene

(3) SIMAP similar genes for BSG Gene using alignment to 4 proteins:

  • BASI_HUMAN
  • I3L192_HUMAN
  • R4GMX5_HUMAN
  • R4GN83_HUMAN
genes like me logo Genes that share paralogs with BSG: view

Variants for BSG Gene

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

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
rs104894669 Affects: BLOOD GROUP--OK 580,428(+) G/Ap.Glu208Lys
NM_001728.4(BSG):c.622G>A (p.Glu208Lys)
MISSENSE_VARIANT,FIVE_PRIME_UTR
rs11551900 Benign: not provided 581,371(+) A/G
NM_001728.4(BSG):c.849A>G (p.Ser283=)
SYNONYMOUS
rs55713331 Benign: not provided 579,519(+) C/T
NM_001728.4(BSG):c.435C>T (p.Thr145=)
SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON
rs757449124 Likely Benign: not provided 579,492(+) C/T
NM_001728.4(BSG):c.416-8C>T
INTRON
rs14704 -- p.Lys152Asn

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

Variant ID Type Subtype PubMed ID
dgv6174n54 CNV loss 21841781
dgv6175n54 CNV loss 21841781
esv2717744 CNV deletion 23290073
esv3643354 CNV loss 21293372
esv3643355 CNV gain 21293372
nsv428360 CNV gain 18775914
nsv470101 CNV loss 18288195
nsv577978 CNV gain 21841781
nsv578151 CNV loss 21841781
nsv578152 CNV gain 21841781
nsv578153 CNV loss 21841781
nsv578154 CNV loss 21841781
nsv578157 CNV gain 21841781
nsv578159 CNV loss 21841781
nsv578160 CNV loss 21841781
nsv953938 CNV deletion 24416366

Variation tolerance for BSG Gene

Residual Variation Intolerance Score: 25.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.65; 31.64% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BSG Gene

Blood Group Antigen Gene Mutation Database (BGMUT)
Blood Group System
Human Gene Mutation Database (HGMD)
BSG
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BSG
Leiden Open Variation Database (LOVD)
BSG

SNP Genotyping and Copy Number Assays for research

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

Disorders for BSG Gene

MalaCards: The human disease database

(21) MalaCards diseases for BSG Gene - From: COP and GCD

Disorder Aliases PubMed IDs
severe acute respiratory syndrome
  • sars
ameloblastoma
  • adenoameloblastoma
alveolar soft part sarcoma
  • asps
mixed cell uveal melanoma
  • intraocular mixed cell type melanoma
adult teratoma
- elite association - COSMIC cancer census association via MalaCards
Search BSG in MalaCards View complete list of genes associated with diseases

Additional Disease Information for BSG

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 BSG: view

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

Publications for BSG Gene

  1. The human tumor cell-derived collagenase stimulatory factor (renamed EMMPRIN) is a member of the immunoglobulin superfamily. (PMID: 7812975) Biswas C … Nabeshima K (Cancer research 1995) 2 3 4 22
  2. The role of charged residues in the transmembrane helices of monocarboxylate transporter 1 and its ancillary protein basigin in determining plasma membrane expression and catalytic activity. (PMID: 17127621) Manoharan C … Halestrap AP (Molecular membrane biology 2006) 3 4 22
  3. Cell surface expression of CD147/EMMPRIN is regulated by cyclophilin 60. (PMID: 15946952) Pushkarsky T … Bukrinsky MI (The Journal of biological chemistry 2005) 3 4 22
  4. Extracellular matrix metalloproteinase inducer stimulates tumor angiogenesis by elevating vascular endothelial cell growth factor and matrix metalloproteinases. (PMID: 15833850) Tang Y … Yan L (Cancer research 2005) 3 4 22
  5. Basigin (CD147): a multifunctional transmembrane protein involved in reproduction, neural function, inflammation and tumor invasion. (PMID: 12792908) Muramatsu T … Miyauchi T (Histology and histopathology 2003) 3 4 22

Products for BSG Gene

Sources for BSG Gene