BSG
protein-codingbasigin (Ok blood group), the group of CD molecules|I-set domain containing|Blood group antigens|Basigin family
Gene summary
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]
- OK
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~12.2 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
Clinical Genomic Database (CGD)
Manifestation: Hematologic
Intervention: Hematologic
Rationale: Variants associated with a blood group may be important in specific situations (eg, related to transfusion)
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to BSG variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_001728.4. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 5 | 10 | 3 | 18 | ||
| missense | 44 | 6 | 4 | 54 | ||
| nonsense | 2 | 2 | ||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 10 | 10 | ||||
| Total | 0 | 0 | 61 | 16 | 7 | 84 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001719.2 | 8 | MANE Select | |
| Ensembl | ENSP00000333769.3 | 8 | MANE Select | |
| RefSeq | NP_001309172.1 | 7 | Standard | |
| RefSeq | NP_940991.1 | 7 | Standard |
Model Organisms & Knockout Phenotypes
Observed phenotypic effects in mouse and zebrafish models
| Gene / Model | Organism | Observed Phenotype |
|---|---|---|
| bsg | Danio rerio | Structure: head Quality: decreased size abnormal |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Matrix Metalloproteinases
- Integrin cell surface interactions
- Pyruvate metabolism
- Pyruvate metabolism and Citric Acid (TCA) cycle
- Bile salt and organic anion SLC transporters
Biological Process
- pyruvate metabolic process
- homophilic cell adhesion via plasma membrane adhesion molecules
- cell surface receptor signaling pathway
- axon guidance
- embryo implantation
Molecular Function
- protein binding
- mannose binding
- monocarboxylic acid transmembrane transporter activity
- cadherin binding
- cell-cell adhesion mediator activity
Cellular Component
- Golgi membrane
- acrosomal membrane
- mitochondrion
- plasma membrane
- integral component of plasma membrane
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000333511
- Coding exons
- 8
- Length
- 12197
- Individuals with no LoFs
- 125152
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 16
- Defined
- 125168
- p
- 0.0000639
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -0.143 | 254 | 248 | 1.03 | 0.0000171 | 2458 |
| Missense (PolyPhen) | 73 | 96.374 | 0.75746 | 1000 | ||
| Synonymous | -2.93 | 155 | 115 | 1.35 | 0.00000926 | 766 |
| Loss of Function | 1.68 | 10 | 17.6 | 0.568 | 8.32e-7 | 192 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.000076 | 0.000062 | rare |
| Latino/Admixed American | 0.000096 | 0.000087 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0 | 0.0 | absent |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.000084 | 0.000080 | rare |
| South Asian | 0.00010 | 0.000098 | rare |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Plays an important role in targeting the monocarboxylate transporters SLC16A1, SLC16A3, SLC16A8 and SLC16A11 to the plasma membrane. Plays pivotal roles in spermatogenesis, embryo implantation, neural network formation and tumor progression. Stimulates adjacent fibroblasts to produce matrix metalloproteinases (MMPS). Seems to be a receptor for oligomannosidic glycans. In vitro, promotes outgrowth of astrocytic processes. {ECO:0000269|PubMed:17127621, ECO:0000269|PubMed:28666119}.;
Recessive Scores
- pRec
- 0.358
Intolerance Scores
- LoFtool
- 0.593
- RVIS EVS
- -1.04
- RVIS percentile EVS
- 7.71
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- S
- Essential (gene trap)
- N
- Indispensability pred.
- E
- Indispensability score
- 0.930
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |