BSG

Summary

BSG (basigin (Ok blood group), HGNC:1116) is a protein-coding gene on chromosome 19p13.3, encoding Basigin (P35613). Essential for normal retinal maturation and development.

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.

Source: NCBI Gene 682 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 96 total — 1 pathogenic
• Druggable target: yes
• MANE Select transcript: NM_001728

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1116
Approved symbol	BSG
Name	basigin (Ok blood group)
Location	19p13.3
Locus type	gene with protein product
Status	Approved
Aliases	EMMPRIN, CD147, EMPRIN
Ensembl gene	ENSG00000172270
Ensembl biotype	protein_coding
OMIM	109480
Entrez	682

Gene structure

Transcript identifiers

Ensembl transcripts: 27 — 19 protein_coding, 5 retained_intron, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000333511, ENST00000346916, ENST00000353555, ENST00000545507, ENST00000571735, ENST00000572899, ENST00000573216, ENST00000573784, ENST00000574970, ENST00000576925, ENST00000576984, ENST00000590218, ENST00000613627, ENST00000614867, ENST00000618006, ENST00000618112, ENST00000679472, ENST00000680065, ENST00000680326, ENST00000680551, ENST00000680552, ENST00000952320, ENST00000952321, ENST00000952322, ENST00000952323, ENST00000952324, ENST00000952325

RefSeq mRNA: 5 — MANE Select: NM_001728 NM_001322243, NM_001728, NM_198589, NM_198590, NM_198591

CCDS: CCDS12033, CCDS12034, CCDS58635

Canonical transcript exons

ENST00000333511 — 9 exons

Exon	Start	End
ENSE00002651871	582750	583493
ENSE00003467148	580379	580461
ENSE00003545410	582514	582582
ENSE00003550536	581315	581591
ENSE00003593527	582306	582330
ENSE00003605559	579500	579656
ENSE00003645962	580646	580782
ENSE00003683402	577774	578121
ENSE00003817675	572596	572701

Expression profiles

Bgee: expression breadth ubiquitous, 282 present calls, max score 99.87.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 359.3675 / max 3330.2394, expressed in 1828 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
172699	276.6486	1828
172698	77.7621	1824
172704	1.6736	992
172694	1.3819	482
172703	0.9857	549
172697	0.4414	232
172695	0.4413	253
172696	0.0329	10

Top tissues by expression

293 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
apex of heart	UBERON:0002098	99.87	gold quality
right testis	UBERON:0004534	99.79	gold quality
left testis	UBERON:0004533	99.78	gold quality
mucosa of transverse colon	UBERON:0004991	99.77	gold quality
right atrium auricular region	UBERON:0006631	99.65	gold quality
heart left ventricle	UBERON:0002084	99.60	gold quality
right frontal lobe	UBERON:0002810	99.59	gold quality
stromal cell of endometrium	CL:0002255	99.58	gold quality
cardiac ventricle	UBERON:0002082	99.54	gold quality
right adrenal gland	UBERON:0001233	99.53	gold quality
left adrenal gland	UBERON:0001234	99.53	gold quality
left adrenal gland cortex	UBERON:0035825	99.53	gold quality
right adrenal gland cortex	UBERON:0035827	99.53	gold quality
transverse colon	UBERON:0001157	99.52	gold quality
metanephros cortex	UBERON:0010533	99.51	gold quality
body of stomach	UBERON:0001161	99.47	gold quality
cardiac atrium	UBERON:0002081	99.47	gold quality
muscle layer of sigmoid colon	UBERON:0035805	99.47	gold quality
adenohypophysis	UBERON:0002196	99.46	gold quality
right uterine tube	UBERON:0001302	99.41	gold quality
left lobe of thyroid gland	UBERON:0001120	99.36	gold quality
descending thoracic aorta	UBERON:0002345	99.36	gold quality
thoracic aorta	UBERON:0001515	99.35	gold quality
body of uterus	UBERON:0009853	99.35	gold quality
right lobe of thyroid gland	UBERON:0001119	99.34	gold quality
ascending aorta	UBERON:0001496	99.34	gold quality
endocervix	UBERON:0000458	99.33	gold quality
right coronary artery	UBERON:0001625	99.31	gold quality
left uterine tube	UBERON:0001303	99.29	gold quality
heart	UBERON:0000948	99.28	gold quality

Single-cell (SCXA)

Detected in 25 experiment(s), a significant marker in 18.

Experiment	Marker?	Max mean expression
E-MTAB-3929	yes	2684.80
E-HCAD-4	yes	151.19
E-MTAB-6701	yes	115.39
E-CURD-112	yes	55.68
E-HCAD-10	yes	34.33
E-HCAD-5	yes	32.55
E-GEOD-125970	yes	26.30
E-HCAD-35	yes	25.01
E-MTAB-10042	yes	24.47
E-MTAB-8142	yes	21.44
E-GEOD-81547	yes	20.72
E-MTAB-9221	yes	19.50
E-GEOD-135922	yes	15.70
E-MTAB-9067	yes	12.82
E-HCAD-9	yes	11.26

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AR, ESR1, HIF1A, MYC, PPARA, SP1, SP3, SPI1, TP53

miRNA regulators (miRDB)

19 targeting BSG, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-4319	99.76	69.83	2586
HSA-MIR-6766-5P	99.68	67.70	2325
HSA-MIR-4516	99.61	67.78	3390
HSA-MIR-1324	99.46	66.57	1302
HSA-MIR-3140-5P	99.39	69.04	1136
HSA-MIR-485-5P	99.10	64.78	1889
HSA-MIR-6884-5P	99.10	64.50	1987
HSA-MIR-12120	98.05	68.44	1768
HSA-MIR-890	97.47	68.67	982
HSA-MIR-1237-5P	95.38	62.21	451
HSA-MIR-4488	95.38	62.00	443
HSA-MIR-4697-5P	95.38	61.72	457
HSA-MIR-652-3P	86.88	67.58	29

Literature-anchored findings (GeneRIF, showing 40)

• cyclophilin B receptor; mediates calcium signaling and neutrophil chemotaxis induced by cyclophilin B (PMID:11688976)
• Active site residues of cyclophilin A are crucial for its signaling activity via CD147 (PMID:11943775)
• Basigin (CD147) is expressed on melanoma cells and induces tumor cell invasion by stimulating production of matrix metalloproteinases by fibroblasts (PMID:11992541)
• Extracellular matrix metalloproteinase inducer is induced upon monocyte differentiation and is expressed in human atheroma as well as in GM-CSF-differentiated peripheral blood monocytes and macrophage foam cells. (PMID:12117738)
• EMMPRIN stimulates fibroblast MMP2 release. (PMID:12173047)
• expressed in Hodgkin’s lymphoma and anaplastic large cell lymphoma (PMID:12174874)
• Chlamydia pneumoniae infection implicated as an important etiologic factor of atherosclerosis was found to be associated with the induction of matrix metalloproteinases (MMPs), upregulated by EMMPRIN. (PMID:12526080)
• role of EMMPRIN in tumor invasion, metastasis, and neoangiogenesis by stimulating extracellular matrix remodeling around tumor cell clusters, stroma, and blood vessels (PMID:12553375)
• expression of EMMPRIN is responsible for the increased activity of matrix metalloproteinases in MDR cell lines (PMID:12692261)
• CD147 is a transmembrane protein involved in reproduction, neural function, inflammation and tumor invasion [review] (PMID:12792908)
• EMMPRIN may be an important regulatory factor involved in the biological behaviors of giant cell tumor (PMID:12898514)
• Antibody targeting of T cell activation-associated antigen CD147 prevents T cell receptor (TCR) stimulation-dependent reorganization and clustering of membrane microdomains and suggests a general mechanism for inhibition of receptor signaling. (PMID:12902469)
• study indicates the functional interaction between CD98 and CD147 in the regulation of cell fusion (PMID:12925876)
• Expressed in human endometrium during menstrual cycle. Expression and glycosylation augmented by progesterone. May be involved in extracellular matrix(ECM) breakdown at interface between endometrial cells and ECM by using EMMPRIN-bound MMP-1. (PMID:14671212)
• showed highly specific association with caveolin-1 on the surface of multiple cell types (PMID:14707126)
• Our results suggest an importance of the direct cell-cell interaction involving EMMPRIN rather than humoral factors such as cytokines for pro-MMP-2 production and activation followed by tumor progression, invasion, and metastasis in laryngeal cancer (PMID:14729463)
• extracellular matrix degradation by fibroblasts is controlled through the microvesicular release of EMMPRIN from tumor cells (PMID:14749763)
• model in which tumor cell-associated EMMPRIN stimulates MMPs, as well as EMMPRIN expression in tumor stroma (PMID:14985463)
• EMMPRIN has a role in progression of human breast cancer (PMID:15161697)
• placenta and fetal membranes express EMMPRIN, with the potential to stimulate MMP production, facilitating fetal membrane rupture and detachment of the placenta and fetal membranes from the maternal uterus at the time of parturition. (PMID:15181074)
• CD147 is a major carrier of beta1,6-branched polylactosamine sugars on tumor cells (PMID:15201341)
• Up-regulation of EMMPRIN by epidermal growth factor and transforming growth factor-beta, demonstrate a role in wound healing. (PMID:15632013)
• a cyclophilin-related protein is involved in CD147 cell surface expression (PMID:15671024)
• review of role of emmprin as a major mediator of malignant cell behavior (PMID:15711733)
• Expression of EMMPRIN protein may be detected in hepatocellular carcinoma(HCC), but it may play little role in the invasion and metastasis of HCC. (PMID:15770719)
• ECM remodeling is under the control of induction and inhibition of matrix degrading protease and the novel MMP inducer, EMMPRIN may play a role in influx and differentiation of monocytes and destabilizing atheroma (PMID:15823273)
• fibroblast-derived MMPs but not those from tumor cells are important for in vitro collagenolysis and that this process is promoted by tumor cell-expressed EMMPRIN (PMID:15831673)
• Results suggest a novel tumor angiogenesis mechanism in which tumor-associated EMMPRIN functionally mediates tumor-stroma interactions and directly contributes to tumor angiogenesis and growth by stimulating VEGF and MMP expression. (PMID:15833850)
• Depletion of CD147 by RNA interference was found to increase the production of amyloid beta-peptides. (PMID:15890777)
• expression of CD147 is upregulated during the differentiation of monocyte THP-1 cells to macrophage cells, and CD147 induces the secretion and activation of MMP-2 and MMP-9 and enhances the invasive ability of THP-1 cells (PMID:15904490)
• cyclophilin 60 regulates cell surface expression of CD147/EMMPRIN (PMID:15946952)
• EMMPRIN may be an important factor for implantation during early pregnancy and participate in maintaining gestation during mid-term and term pregnancy. (PMID:16080871)
• Increased CD147 on monocytes/macrophages in rheumtaoid arthritis may cause elevated matrix metalloproteinase secretion, cell invasion & cyclophilin-A-mediated cell migration into the joints; this may lead to to cartilage & bone destruction. (PMID:16207318)
• These results suggest that EMMPRIN overexpression occurs at a very early stage of oral carcinogenesis and plays a contributing role in OSCC tumorigenesis. (PMID:16310185)
• variations in EMMPRIN glycosylation forms are associated with either MMP-2 or MMP-9 activity (PMID:16339461)
• The colocalization of EMMPRIN, MT1-MMP and TIMP-2 in human cervical carcinomas seems to be involved in a specific distribution pattern of tumor cell bound MMP-2, which is related with local proteolytic activity. (PMID:16425263)
• results indicated that expression of EMMPRIN protects cancer cells from anoikis and that this effect is mediated at least in part by a MAP kinase-dependent reduction of Bim (PMID:16443928)
• EMMPRIN and MT1-MMP are upregulated on monocytes in acute MI. During cellular interactions, EMMPRIN stimulates MMP-9 in monocytes and MMP-2 in smooth muscle cells. (PMID:16461815)
• CD147 may be important factor in progressive joint destruction of rheumatoid arthritis(RA) and may be potential therapeutic target in RA treatment. (PMID:16507143)
• CD147 downregulation by RNAi technology decreases the invasive capability of prostate cancer cells. (PMID:16627983)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	bsg	ENSDARG00000019881
mus_musculus	Bsg	ENSMUSG00000023175
rattus_norvegicus	Bsg	ENSRNOG00000008414
drosophila_melanogaster	Bsg	FBGN0261822
caenorhabditis_elegans		WBGENE00021305

Paralogs (3): VSTM2L (ENSG00000132821), NPTN (ENSG00000156642), EMB (ENSG00000170571)

Protein

Protein identifiers

Basigin — P35613 (reviewed: P35613)

Alternative names: 5F7, Collagenase stimulatory factor, Extracellular matrix metalloproteinase inducer, Hepatoma-associated antigen, Leukocyte activation antigen M6, OK blood group antigen, Tumor cell-derived collagenase stimulatory factor

All UniProt accessions (12): A0A087WUV8, A0A087X215, A0A087X2B5, A0A2R8YDZ0, A0A7P0T8A7, A0A7P0TA85, A0A7P0TB04, P35613, I3L192, Q54A51, R4GMX5, R4GN83

UniProt curated annotations — full annotation on UniProt →

Function. Essential for normal retinal maturation and development. Acts as a retinal cell surface receptor for NXNL1 and plays an important role in NXNL1-mediated survival of retinal cone photoreceptors. 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. May act as a potent stimulator of IL6 secretion in multiple cell lines that include monocytes. (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. Signaling receptor for cyclophilins, essential for PPIA/CYPA and PPIB/CYPB-dependent signaling related to chemotaxis and adhesion of immune cells. Plays an important role in targeting monocarboxylate transporters SLC16A1/GLUT1, SLC16A11 and SLC16A12 to the plasma membrane. Acts as a coreceptor for vascular endothelial growth factor receptor 2 (KDR/VEGFR2) in endothelial cells enhancing its VEGFA-mediated activation and downstream signaling. Promotes angiogenesis through EPAS1/HIF2A-mediated up-regulation of VEGFA (isoform VEGF-165 and VEGF-121) and KDR/VEGFR2 in endothelial cells. 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). (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. Binding of P.falciparum RH5 results in BSG dimerization which triggers an increase in intracellular Ca(2+) in the erythrocyte. This essential step leads to a rearrangement of the erythrocyte cytoskeleton required for the merozoite invasion. (Microbial infection) Can facilitate human SARS coronavirus (SARS-CoV-1) infection via its interaction with virus-associated PPIA/CYPA. (Microbial infection) Can facilitate HIV-1 infection via its interaction with virus-associated PPIA/CYPA. (Microbial infection) First described as a receptor for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), it is not required for SARS-CoV-2 infection. (Microbial infection) Acts as a receptor for measles virus. (Microbial infection) Promotes entry of pentamer-expressing human cytomegalovirus (HCMV) into epithelial and endothelial cells. Plays a role in neurite outgrowth.

Subunit / interactions. Homooligomer. Interacts with NXNL1. Interacts with SLC2A1 and SLC16A1/GLUT1. Interacts with XKR8; promoting its localization at the cell membrane. (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. Homooligomer. Forms heterooligomers with isoform 3. Interacts with VEGFA and KDR/VEGFR2. Interacts with PPIA/CYPA. Interacts with PPIL2; regulates BSG transport to the cell membrane. Interacts with SLC16A1; interaction mediates SLC16A3 targeting to the plasma membrane. Interacts with SLC16A12. Interacts with SLC16A11. Interacts with AJAP1. Interacts with SLC1A3, ATP1B2, MAG and L1CAM. Interacts with SLC16A3; interaction mediates SLC16A3 targeting to the plasma membrane. (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. (Microbial infection) Does not interact with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) spike glycoprotein, even if previous works were based on a putative interaction. Forms heterooligomers with isoform 2. Interacts with SLC16A6; this interaction mediates targeting to the plasma membrane. Interacts with SNX32.

Subcellular location. Melanosome Cell membrane. Photoreceptor inner segment. Cell projection. Cilium. Photoreceptor outer segment Cell membrane. Endosome. Endoplasmic reticulum membrane. Basolateral cell membrane Cell membrane Cell membrane.

Tissue specificity. Retina-specific. Expressed in retinal cone photoreceptors (at protein level). Expressed in erythrocytes (at protein level). Highly expressed in melanoma cell lines (at protein level). Highly expressed in the heart, kidney, skeletal muscle and testis. Highly expressed in the bone marrow, fetal liver, lung, testis and thymus. Highly expressed in the bone marrow, fetal liver, lung, testis and thymus.

Post-translational modifications. N-glycosylated. N-glycosylated. N-glycosylated.

Miscellaneous. Produced by alternative promoter usage. Produced by alternative promoter usage.

Isoforms (4)

UniProt ID	Names	Canonical?
P35613-1	1, Long, Basigin-1	yes
P35613-2	2, Short, Basigin-2
P35613-3	3, Basigin-3
P35613-4	4, Basigin-4

RefSeq proteins (5): NP_001309172, NP_001719, NP_940991, NP_940992, NP_940993 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003598	Ig_sub2	Domain
IPR003599	Ig_sub	Domain
IPR007110	Ig-like_dom	Domain
IPR013783	Ig-like_fold	Homologous_superfamily
IPR036179	Ig-like_dom_sf	Homologous_superfamily

Pfam: PF13927

UniProt features (80 total): strand 26, mutagenesis site 16, sequence variant 8, helix 5, splice variant 4, glycosylation site 3, disulfide bond 3, domain 3, modified residue 2, topological domain 2, turn 2, region of interest 2, signal peptide 1, chain 1, transmembrane region 1, sequence conflict 1

Structure

Experimental structures (PDB)

18 structures.

PDB	Method	Resolution (Å)
3I84	X-RAY DIFFRACTION	2
3QR2	X-RAY DIFFRACTION	2.3
7XY8	X-RAY DIFFRACTION	2.3
3QQN	X-RAY DIFFRACTION	2.31
3I85	X-RAY DIFFRACTION	2.5
5X0T	X-RAY DIFFRACTION	2.5
7DAA	X-RAY DIFFRACTION	2.51
3B5H	X-RAY DIFFRACTION	2.8
7CKO	ELECTRON MICROSCOPY	2.95
7CKR	ELECTRON MICROSCOPY	3
4U0Q	X-RAY DIFFRACTION	3.1
6LYY	ELECTRON MICROSCOPY	3.2
6LZ0	ELECTRON MICROSCOPY	3.3
7DA5	ELECTRON MICROSCOPY	3.3
8XEJ	ELECTRON MICROSCOPY	3.66
9UG3	ELECTRON MICROSCOPY	3.75
7DCE	ELECTRON MICROSCOPY	3.8
5XF0	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P35613-F1	86.51	0.68

Antibody-complex structures (SAbDab): 5 — 5X0T, 7DAA, 7DCE, 7XY8, 8XEJ

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (2): 368, 362

Disulfide bonds (3): 44–108, 157–203, 242–301

Glycosylation sites (3): 160, 268, 302

Mutagenesis-validated functional residues (16):

Position	Phenotype
67	loss of ability to stimulate interleukin-6 secretion.
160	no effect on the interaction with p.falciparum rh5; when associated with d-268 and d-302.
268	no effect on the interaction with p.falciparum rh5; when associated with d-160 and d-302.
302	no effect on the interaction with p.falciparum rh5; when associated with d-160 and d-268.
27	severe reduction in the interaction with p.falciparum rh5.
32	no effect on the interaction with p.falciparum rh5.
75	no effect on the interaction with p.falciparum rh5.
100	severe reduction in the interaction with p.falciparum rh5.
102	severe reduction in the interaction with p.falciparum rh5.
144	reduced interaction with kdr/vegfr2.
180–181	loss of its ability to mediate chemotactic activity of ppia/cypa.
182	reduced interaction with kdr/vegfr2. significant loss of interaction with kdr/vegfr2; when associated with a-184.
184	reduced interaction with kdr/vegfr2. significant loss of interaction with kdr/vegfr2; when associated with a-182.
195	reduced interaction with kdr/vegfr2. complete loss of interaction with kdr/vegfr2 when associated with a-199.
199	reduced interaction with kdr/vegfr2. complete loss of interaction with kdr/vegfr2; when associated with a-195.
211	loss of interaction with ppil2.

Function

Pathways and Gene Ontology

Reactome pathways

16 pathways

ID	Pathway
R-HSA-1474228	Degradation of the extracellular matrix
R-HSA-210991	Basigin interactions
R-HSA-216083	Integrin cell surface interactions
R-HSA-433692	Proton-coupled monocarboxylate transport
R-HSA-5619070	Defective SLC16A1 causes symptomatic deficiency in lactate transport (SDLT)
R-HSA-9749641	Aspirin ADME
R-HSA-109582	Hemostasis
R-HSA-1474244	Extracellular matrix organization
R-HSA-1643685	Disease
R-HSA-202733	Cell surface interactions at the vascular wall
R-HSA-382551	Transport of small molecules
R-HSA-425366
R-HSA-425407	SLC-mediated transmembrane transport
R-HSA-5619102	SLC transporter disorders
R-HSA-5619115	Disorders of transmembrane transporters
R-HSA-9748784	Drug ADME

MSigDB gene sets: 329 (showing top): GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_NEURON_RECOGNITION, CHIBA_RESPONSE_TO_TSA_UP, GOBP_MYELOID_LEUKOCYTE_MIGRATION, GOBP_NEURON_PROJECTION_EXTENSION, GOBP_CELL_CHEMOTAXIS, SWEET_KRAS_ONCOGENIC_SIGNATURE, XU_GH1_AUTOCRINE_TARGETS_UP, GOCC_SECRETORY_GRANULE, ENK_UV_RESPONSE_KERATINOCYTE_UP, GOBP_GROWTH, GOBP_POSITIVE_REGULATION_OF_PROTEIN_LOCALIZATION, DITTMER_PTHLH_TARGETS_UP

GO Biological Process (23): angiogenesis (GO:0001525), neural retina development (GO:0003407), homophilic cell-cell adhesion (GO:0007156), cell surface receptor signaling pathway (GO:0007166), axon guidance (GO:0007411), embryo implantation (GO:0007566), positive regulation of vascular endothelial growth factor production (GO:0010575), positive regulation of endothelial cell migration (GO:0010595), neutrophil chemotaxis (GO:0030593), positive regulation of interleukin-6 production (GO:0032755), odontogenesis of dentin-containing tooth (GO:0042475), response to peptide hormone (GO:0043434), photoreceptor cell maintenance (GO:0045494), positive regulation of viral entry into host cell (GO:0046598), response to mercury ion (GO:0046689), decidualization (GO:0046697), response to cAMP (GO:0051591), endothelial tube morphogenesis (GO:0061154), dendrite self-avoidance (GO:0070593), protein localization to plasma membrane (GO:0072659), positive regulation of matrix metallopeptidase secretion (GO:1904466), neuron projection extension (GO:1990138), symbiont entry into host cell (GO:0046718)

GO Molecular Function (7): virus receptor activity (GO:0001618), D-mannose binding (GO:0005537), signaling receptor activity (GO:0038023), cadherin binding (GO:0045296), cell-cell adhesion mediator activity (GO:0098632), protein binding (GO:0005515), carbohydrate binding (GO:0030246)

GO Cellular Component (17): Golgi membrane (GO:0000139), photoreceptor outer segment (GO:0001750), photoreceptor inner segment (GO:0001917), acrosomal membrane (GO:0002080), mitochondrion (GO:0005739), endosome (GO:0005768), endoplasmic reticulum membrane (GO:0005789), plasma membrane (GO:0005886), focal adhesion (GO:0005925), membrane (GO:0016020), basolateral plasma membrane (GO:0016323), axon (GO:0030424), sarcolemma (GO:0042383), melanosome (GO:0042470), extracellular exosome (GO:0070062), endoplasmic reticulum (GO:0005783), cell projection (GO:0042995)

Reactome top-level categories

Rollup of top-9 pathways:

Category	Pathways
Extracellular matrix organization	2
Cell surface interactions at the vascular wall	1
SLC-mediated transport of organic anions	1
SLC transporter disorders	1
Drug ADME	1
Hemostasis	1
Transport of small molecules	1
Disorders of transmembrane transporters	1
Disease	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
cell-cell adhesion	2
positive regulation of cytokine production	2
response to oxygen-containing compound	2
symbiont entry into host cell	2
binding	2
cytoplasm	2
intracellular membrane-bounded organelle	2
endomembrane system	2
blood vessel morphogenesis	1
anatomical structure formation involved in morphogenesis	1
anatomical structure development	1
retina development in camera-type eye	1
signal transduction	1
axonogenesis	1
neuron projection guidance	1
multicellular organism development	1
female pregnancy	1
reproductive process	1
vascular endothelial growth factor production	1
regulation of vascular endothelial growth factor production	1
regulation of endothelial cell migration	1
positive regulation of cell migration	1
endothelial cell migration	1
granulocyte chemotaxis	1
neutrophil migration	1
interleukin-6 production	1
regulation of interleukin-6 production	1
odontogenesis	1
response to hormone	1
response to nitrogen compound	1
retina homeostasis	1
multicellular organismal process	1
regulation of viral entry into host cell	1
positive regulation by symbiont of entry into host	1
positive regulation of viral life cycle	1
response to metal ion	1
maternal placenta development	1
developmental process involved in reproduction	1
tissue development	1

Protein interactions and networks

STRING

2945 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
BSG	PPIA	P05092	999
BSG	PPIB	P23284	996
BSG	SLC16A3	O15427	996
BSG	SLC16A1	P53985	983
BSG	SLC16A8	O95907	980
BSG	CD44	P16070	980
BSG	ACE2	Q9BYF1	968
BSG	CAV1	Q03135	966
BSG	SLC16A4	O15374	964
BSG	AJAP1	Q9UKB5	929
BSG	ITGB1	P05556	917
BSG	DPP4	P27487	914
BSG	LYVE1	Q9Y5Y7	898
BSG	SLC2A1	P11166	892
BSG	SLC3A2	P08195	862

IntAct

224 interactions, top by confidence:

A	B	Type	Score
RINT1	NBAS	psi-mi:“MI:0914”(association)	0.830
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
SYMPK	BSG	psi-mi:“MI:0915”(physical association)	0.670
BSG	S	psi-mi:“MI:0407”(direct interaction)	0.650
BSG	S	psi-mi:“MI:0403”(colocalization)	0.650
COG7	ILVBL	psi-mi:“MI:0914”(association)	0.640
CFTR	HAX1	psi-mi:“MI:0914”(association)	0.610
BSG	NCSTN	psi-mi:“MI:0407”(direct interaction)	0.590
BSG	PSEN1	psi-mi:“MI:0407”(direct interaction)	0.590
BSG	PSEN1	psi-mi:“MI:0914”(association)	0.590
PPIA	BSG	psi-mi:“MI:0915”(physical association)	0.590

BioGRID (1150): ATP2B4 (Affinity Capture-MS), PRPF8 (Affinity Capture-MS), MDN1 (Affinity Capture-MS), INTS5 (Affinity Capture-MS), ATR (Affinity Capture-MS), C16orf62 (Affinity Capture-MS), FANCA (Affinity Capture-MS), EXOC4 (Affinity Capture-MS), CCDC132 (Affinity Capture-MS), TARBP1 (Affinity Capture-MS), GPD1L (Affinity Capture-MS), INTS12 (Affinity Capture-MS), TELO2 (Affinity Capture-MS), DNM3 (Affinity Capture-MS), MYBBP1A (Affinity Capture-MS)

ESM2 similar proteins: A0A8M2B818, A3KPA0, A5D7C3, B0JYH6, O35112, O46634, O46651, O88792, P17790, P18461, P18572, P21802, P21803, P26453, P35613, P42292, P57087, P78310, P97792, Q01638, Q13740, Q15198, Q1WIM2, Q2PFX1, Q2WGK2, Q3V3F6, Q5R764, Q5RJP7, Q61490, Q66KX2, Q68FQ2, Q6DJ83, Q6PE55, Q6UWV2, Q7ZXX1, Q8BLQ9, Q8N3J6, Q8WMV3, Q90Y50, Q99795

Diamond homologs: O88775, P17790, P21995, P26453, P35613, Q6PCB8, P18572, P97300, P97546, Q28740, Q6WRH9, Q865R3, Q99PA3, Q9Y639, O15394, O35158, O75325, Q32MD9, Q5VST9, Q9HCK4, O60469, Q5DTJ9, Q8VHZ8, Q91V87, Q9ERC8, A2A8L5, A7MBJ4, O02827, O75962, P10586, P23468, P29294, P56276, Q01974, Q15746, Q23551, Q28824, Q61006, Q64487, Q6PDN3

SIGNOR signaling

5 interactions.

A	Effect	B	Mechanism
FBXO22	“down-regulates quantity by destabilization”	BSG	binding
“Cullin 1-RBX1-Skp1”	“down-regulates quantity by destabilization”	BSG	polyubiquitination
FBXO22	“down-regulates quantity by destabilization”	BSG	ubiquitination
“Cullin 1-RBX1-Skp1”	“down-regulates quantity by destabilization”	BSG	ubiquitination
NEK6	“down-regulates activity”	BSG	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 200 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
VEGFR2 mediated cell proliferation	5	20.7×	4e-04
Downstream signal transduction	6	16.6×	3e-04
Intra-Golgi traffic	5	9.4×	6e-03
Regulation of RAS by GAPs	6	8.4×	4e-03
Retrograde transport at the Trans-Golgi-Network	5	8.0×	1e-02
Translocation of SLC2A4 (GLUT4) to the plasma membrane	6	6.7×	8e-03
COPI-mediated anterograde transport	8	6.4×	2e-03
VEGFA-VEGFR2 Pathway	6	6.1×	1e-02

GO biological processes:

GO term	Partners	Fold	FDR
Ras protein signal transduction	7	8.3×	3e-03
protein transport	15	3.8×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

96 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	41
Likely benign	13
Benign	11

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
57441	GRCh38/hg38 19p13.3(chr19:259395-819679)x3	Pathogenic

SpliceAI

1562 predictions. Top by Δscore:

Variant	Effect	Δscore
19:578117:GGAAC:G	donor_gain	1.0000
19:578118:GAAC:G	donor_gain	1.0000
19:578118:GAACG:G	donor_gain	1.0000
19:578119:A:T	donor_gain	1.0000
19:578122:G:GG	donor_gain	1.0000
19:579495:TGCAG:T	acceptor_loss	1.0000
19:579496:GCAGC:G	acceptor_loss	1.0000
19:579498:A:AG	acceptor_gain	1.0000
19:579498:AGCC:A	acceptor_gain	1.0000
19:579499:G:GA	acceptor_gain	1.0000
19:579499:GCC:G	acceptor_gain	1.0000
19:579499:GCCG:G	acceptor_gain	1.0000
19:579652:TTC:T	donor_gain	1.0000
19:579652:TTCAA:T	donor_gain	1.0000
19:579656:AG:A	donor_loss	1.0000
19:579657:G:GG	donor_gain	1.0000
19:579658:T:A	donor_loss	1.0000
19:579659:GAGT:G	donor_loss	1.0000
19:580373:TTGCA:T	acceptor_loss	1.0000
19:580374:TGCA:T	acceptor_loss	1.0000
19:580375:GCA:G	acceptor_loss	1.0000
19:580376:CA:C	acceptor_loss	1.0000
19:580377:A:AG	acceptor_gain	1.0000
19:580377:AG:A	acceptor_gain	1.0000
19:580377:AGGGT:A	acceptor_gain	1.0000
19:580378:G:GT	acceptor_gain	1.0000
19:580378:GG:G	acceptor_gain	1.0000
19:580378:GGGT:G	acceptor_gain	1.0000
19:580378:GGGTG:G	acceptor_gain	1.0000
19:580460:CGG:C	donor_loss	1.0000

AlphaMissense

2516 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:577874:G:C	W56C	0.999
19:577874:G:T	W56C	0.999
19:578028:T:A	C108S	0.999
19:578029:G:C	C108S	0.999
19:581423:T:A	C301S	0.999
19:581424:G:C	C301S	0.999
19:577872:T:A	W56R	0.998
19:577872:T:C	W56R	0.998
19:578022:T:G	Y106D	0.998
19:578087:G:C	W127C	0.998
19:578087:G:T	W127C	0.998
19:579597:G:C	W171C	0.998
19:579597:G:T	W171C	0.998
19:580749:G:C	W253C	0.998
19:580749:G:T	W253C	0.998
19:580755:G:C	W255C	0.998
19:580755:G:T	W255C	0.998
19:581535:T:A	L338Q	0.998
19:578028:T:C	C108R	0.997
19:578032:G:C	R109P	0.997
19:580714:T:A	C242S	0.997
19:580715:G:C	C242S	0.997
19:581520:C:A	A333D	0.997
19:577836:T:A	C44S	0.996
19:577837:G:A	C44Y	0.996
19:577837:G:C	C44S	0.996
19:577977:A:C	S91R	0.996
19:577979:C:A	S91R	0.996
19:577979:C:G	S91R	0.996
19:579595:T:A	W171R	0.996

dbSNP variants (sampled 300 via entrez): RS1000016233 (19:581946 G>A), RS1000243523 (19:577797 T>A,C), RS1000473547 (19:571748 A>G), RS1000686219 (19:580195 G>A), RS1000865869 (19:570360 C>G), RS1000901107 (19:570443 G>A,C), RS1000939958 (19:583568 C>T), RS1001270363 (19:573271 G>A), RS1001272726 (19:574358 C>A,G,T), RS1001314770 (19:578112 G>A,T), RS1001355054 (19:570258 C>T), RS1001372657 (19:576620 G>A), RS1001404760 (19:570975 C>T), RS1001676291 (19:583739 AAG>A), RS1001773712 (19:581727 C>T)

Disease associations

OMIM: gene MIM:109480 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST005549_14	Alzheimer’s disease (late onset)	9.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:1001870	late-onset Alzheimers disease

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (2): CHEMBL3580492 (SINGLE PROTEIN), CHEMBL5169083 (PROTEIN-PROTEIN INTERACTION)

PharmGKB: 1 entry (VIP=true, CPIC=false)

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: other protein — CD molecules

ChEMBL bioactivities

3 potent at pChembl≥5 of 3 total, top 3 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
5.24	Kd	5700	nM	CHEMBL5653589
5.24	ED50	5700	nM	CHEMBL5653589
5.17	IC50	6720	nM	CHEMBL5219923

PubChem BioAssay actives

2 with measured affinity, of 5 total; 2 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2147960: Binding affinity to human BSG incubated for 45 mins by Kinobead based pull down assay	kd	5.6997	uM
methyl (1R,7S,8S,9S)-7-acetyloxy-9-[(1E,3E)-5-[2-[[2-(2,6-dioxopiperidin-3-yl)-1,3-dioxoisoindol-4-yl]amino]ethylamino]-4-methyl-5-oxopenta-1,3-dienyl]-9-methyl-11-oxo-10-oxatricyclo[6.3.2.01,7]tridec-3-ene-4-carboxylate	1917844: PROTAC activity at CRBN/CD147 (unknown origin) assessed as degradation of CD147	ic50	6.7200	uM

CTD chemical–gene interactions

82 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Resveratrol	decreases reaction, increases expression, decreases expression, increases secretion	4
bisphenol A	increases methylation, increases expression, affects expression, affects cotreatment	3
2-chloro-5-nitrobenzanilide	decreases reaction, increases expression, decreases expression	3
Pioglitazone	decreases reaction, increases expression, decreases expression	3
Air Pollutants	decreases expression, increases expression, affects cotreatment, increases abundance, increases oxidation	3
Benzo(a)pyrene	affects methylation, decreases expression, decreases methylation	3
Tetradecanoylphorbol Acetate	decreases reaction, increases expression	3
Tobacco Smoke Pollution	increases expression, affects expression, affects methylation, increases abundance	3
Valproic Acid	increases methylation, affects expression, decreases expression	3
Particulate Matter	decreases expression, increases abundance, increases expression, affects cotreatment	3
sodium arsenite	increases expression, increases methylation	2
methacrylaldehyde	affects cotreatment, increases oxidation, increases abundance	2
2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one	decreases reaction, increases secretion, increases expression	2
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	increases expression, affects cotreatment, decreases expression	2
Acrolein	affects cotreatment, increases oxidation, increases abundance	2
Atrazine	affects cotreatment, increases expression	2
Cisplatin	affects binding, decreases response to substance, increases expression	2
Methotrexate	affects cotreatment, decreases expression	2
Ozone	affects cotreatment, increases oxidation, increases abundance	2
Antirheumatic Agents	affects cotreatment, decreases expression	2
aristolochic acid I	increases expression	1
FR900359	increases phosphorylation	1
bisphenol F	increases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
diphenyleneiodonium	increases expression, decreases reaction	1
pyrogallol 1,3-dimethyl ether	affects cotreatment, affects localization, increases expression	1
solasodine	decreases expression	1
trichostatin A	affects expression	1
beta-lapachone	increases expression	1

ChEMBL screening assays

4 unique, capped per target: 4 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5651002	Binding	Binding affinity to human BSG incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Cellosaurus cell lines

6 cell lines: 3 cancer cell line, 3 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B2M8	Abcam A-549 BSG KO	Cancer cell line	Male
CVCL_B2T3	Abcam HEK293T BSG KO	Transformed cell line	Female
CVCL_C0XA	BEL-A BSG KO	Transformed cell line	Sex unspecified
CVCL_D6CY	HyCyte U-118MG KO-hBSG	Cancer cell line	Male
CVCL_D9AB	Ubigene HEK293 BSG KO	Transformed cell line	Female
CVCL_SF87	HAP1 BSG (-)	Cancer cell line	Male

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.