BSG

basigin (Ok blood group), the group of CD molecules|I-set domain containing|Blood group antigens|Basigin family

Basic information

Region (hg38): 19:571277-583494

Previous symbols: [ "OK" ]

Links

ENSG00000172270 ∙ NCBI:682 ∙ OMIM:109480 ∙ HGNC:1116 ∙ Uniprot:P35613 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Blood group, OK	BG	Hematologic	Variants associated with a blood group may be important in specific situations (eg, related to transfusion)	Hematologic	9130641

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the BSG gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BSG gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				4	4	8
missense			13		1	14
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding				1	4	5
Total	0	0	13	5	9

Variants in BSG

This is a list of pathogenic ClinVar variants found in the BSG region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
19-571546-C-A		BSG-related disorder	Likely benign (Mar 05, 2019)
19-572645-C-G		not specified	Uncertain significance (Aug 17, 2022)
19-577782-G-T		BSG-related disorder	Benign (Feb 02, 2024)
19-577793-G-A		BSG-related disorder	Likely benign (Feb 21, 2019)
19-578072-G-A		BSG-related disorder	Likely benign (May 23, 2019)
19-579492-C-T			Likely benign (Dec 28, 2018)
19-579514-A-G		not specified	Uncertain significance (Feb 14, 2023)
19-579519-C-T			Benign (Dec 18, 2018)
19-579528-C-T		BSG-related disorder	Likely benign (Apr 09, 2019)
19-579604-G-C		not specified	Uncertain significance (Dec 12, 2023)
19-579608-G-C		not specified	Uncertain significance (Feb 13, 2023)
19-579620-A-G		not specified	Uncertain significance (Dec 27, 2023)
19-579627-C-T		BSG-related disorder	Benign (Oct 31, 2019)
19-580388-C-G		BSG-related disorder	Benign (Oct 31, 2019)
19-580428-G-A		BLOOD GROUP--OK	Affects (Apr 01, 1997)
19-580441-C-T		not specified	Uncertain significance (Feb 15, 2023)
19-580662-G-T		not specified	Uncertain significance (Apr 23, 2024)
19-580665-T-C		BSG-related disorder	Benign (Oct 21, 2019)
19-580710-G-A		BSG-related disorder	Benign (Feb 28, 2019)
19-580756-T-C		not specified	Uncertain significance (Jan 29, 2024)
19-581364-G-T		not specified	Uncertain significance (Jun 22, 2023)
19-581367-G-A		not specified	Uncertain significance (May 23, 2023)
19-581371-A-G			Benign (Dec 31, 2019)
19-581385-A-G		not specified	Uncertain significance (Oct 10, 2023)
19-581466-C-T		not specified	Uncertain significance (Feb 17, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
BSG	protein_coding	protein_coding	ENST00000333511	8	12197

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000259	0.929	125152	0	16	125168	0.0000639

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.143	254	248	1.03	0.0000171	2458
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000172	0.000158
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000838	0.0000798
Middle Eastern	0.00	0.00
South Asian	0.000103	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• 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}.
• Pathway: Matrix Metalloproteinases;Integrin cell surface interactions;Pyruvate metabolism;Pyruvate metabolism and Citric Acid (TCA) cycle;Bile salt and organic anion SLC transporters;Extracellular matrix organization;The citric acid (TCA) cycle and respiratory electron transport;Metabolism;Proton-coupled monocarboxylate transport;Transport of bile salts and organic acids, metal ions and amine compounds;SLC-mediated transmembrane transport;Transport of small molecules;Cell surface interactions at the vascular wall;Hemostasis;Degradation of the extracellular matrix;Basigin interactions;Syndecan-1-mediated signaling events (Consensus)

Recessive Scores

• pRec: 0.358

Intolerance Scores

• loftool: 0.593
• rvis_EVS: -1.04
• rvis_percentile_EVS: 7.71

Haploinsufficiency Scores

• pHI: 0.156
• hipred: Y
• hipred_score: 0.588
• ghis: 0.471

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.930

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Bsg
• Phenotype: immune system phenotype; respiratory system phenotype; liver/biliary system phenotype; hematopoietic system phenotype; growth/size/body region phenotype; reproductive system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); endocrine/exocrine gland phenotype

Zebrafish Information Network

• Gene name: bsg
• Affected structure: head
• Phenotype tag: abnormal
• Phenotype quality: decreased size

Gene ontology

• Biological process: pyruvate metabolic process;homophilic cell adhesion via plasma membrane adhesion molecules;cell surface receptor signaling pathway;axon guidance;embryo implantation;monocarboxylic acid transport;extracellular matrix disassembly;extracellular matrix organization;odontogenesis of dentin-containing tooth;response to peptide hormone;response to mercury ion;decidualization;leukocyte migration;response to cAMP;dendrite self-avoidance;protein localization to plasma membrane
• Cellular component: Golgi membrane;acrosomal membrane;mitochondrion;plasma membrane;integral component of plasma membrane;focal adhesion;membrane;axon;sarcolemma;melanosome;intracellular membrane-bounded organelle;membrane raft;extracellular exosome
• Molecular function: protein binding;mannose binding;monocarboxylic acid transmembrane transporter activity;cadherin binding;cell-cell adhesion mediator activity