Gene Gene information from NCBI Gene database.
Entrez ID 682
Gene name Basigin (Ok blood group)
Gene symbol BSG
Synonyms (NCBI Gene)
5F7CD147EMMPRINEMPRINHAb18GOKTCSF
Chromosome 19
Chromosome location 19p13.3
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 ex
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs104894669 G>A Affects 5 prime UTR variant, coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
339
miRTarBase ID miRNA Experiments Reference
MIRT048970 hsa-miR-92a-3p CLASH 23622248
MIRT048970 hsa-miR-92a-3p CLASH 23622248
MIRT044060 hsa-miR-361-5p CLASH 23622248
MIRT043789 hsa-miR-328-3p CLASH 23622248
MIRT438122 hsa-miR-22-3p Luciferase reporter assay 24906624
Transcription factors Transcription factors information provided by TRRUST V2 database.
3
Transcription factor Regulation Reference
AR Unknown 14633669
SP1 Activation 11814679;20384626;20629990
SP3 Activation 11814679
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
64
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane TAS
GO:0001525 Process Angiogenesis IEA
GO:0001618 Function Virus receptor activity IEA
GO:0001618 Function Virus receptor activity IMP 20147391
GO:0001750 Component Photoreceptor outer segment IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
109480 1116 ENSG00000172270
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P35613
Protein name Basigin (5F7) (Collagenase stimulatory factor) (Extracellular matrix metalloproteinase inducer) (EMMPRIN) (Hepatoma-associated antigen) (HAb18G) (Leukocyte activation antigen M6) (OK blood group antigen) (Tumor cell-derived collagenase stimulatory factor)
Protein 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 a
PDB 3B5H , 3I84 , 3I85 , 3QQN , 3QR2 , 4U0Q , 5X0T , 5XF0 , 6LYY , 6LZ0 , 7CKO , 7CKR , 7DA5 , 7DAA , 7DCE , 7XY8 , 8XEJ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13927 Ig_3 25 112 Domain
PF13927 Ig_3 220 305 Domain
Tissue specificity TISSUE SPECIFICITY: [Isoform 1]: Retina-specific (PubMed:25957687). Expressed in retinal cone photoreceptors (at protein level) (PubMed:25957687). {ECO:0000269|PubMed:25957687}.; TISSUE SPECIFICITY: [Isoform 2]: Expressed in erythrocytes (at protein level
Sequence
MAAALFVLLGFALLGTHGASGAAGFVQAPLSQQRWVGGSVELHCEAVGSPVPEIQWWFEG
QGPNDTCSQLWDGARLDRVHIHATYHQHAASTISIDTLVEEDTGTYECRASN
DPDRNHLT
RAPRVKWVRAQAVVLVLEPGTVFTTVEDLGSKILLTCSLNDSATEVTGHRWLKGGVVLKE
DALPGQKTEFKVDSDDQWGEYSCVFLPEPMGTANIQLHGPPRVKAVKSSEHINEGETAML
VCKSESVPPVTDWAWYKITDSEDKALMNGSESRFFVSSSQGRSELHIENLNMEADPGQYR
CNGTS
SKGSDQAIITLRVRSHLAALWPFLGIVAEVLVLVTIIFIYEKRRKPEDVLDDDDA
GSAPLKSSGQHQNDKGKNVRQRNSS
Sequence length 385
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Efferocytosis   Degradation of the extracellular matrix
Basigin interactions
Integrin cell surface interactions
Proton-coupled monocarboxylate transport
Defective SLC16A1 causes symptomatic deficiency in lactate transport (SDLT)
Pyruvate metabolism
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
22
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS 1 CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BLOOD GROUP--OK Affects ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Coronary Syndrome Coronary Syndrome BEFREE 26496256, 28230811, 29563383
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 18160808, 18567995
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 18665036, 22592183, 26525902, 29431238
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of colon Adenocarcinoma Of Colon BEFREE 25403912
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 26284589, 31497203, 31565568
★☆☆☆☆
Found in Text Mining only
Adenoid Cystic Carcinoma Adenocarcinoma BEFREE 28337279
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 20514493
★☆☆☆☆
Found in Text Mining only
Alveolar Soft Part Sarcoma Alveolar Sarcoma BEFREE 21835426
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 15890777, 22084929, 34108016 Associate
★☆☆☆☆
Found in Text Mining only
Amyloidosis Amyloidosis BEFREE 31401349
★☆☆☆☆
Found in Text Mining only