GYPB

Summary

GYPB (glycophorin B (MNS blood group), HGNC:4703) is a protein-coding gene on chromosome 4q31.21, encoding Glycophorin-B (P06028). Component of the ankyrin-1 complex, a multiprotein complex involved in the stability and shape of the erythrocyte membrane.

Glycophorins A (GYPA) and B (GYPB) are major sialoglycoproteins of the human erythrocyte membrane which bear the antigenic determinants for the MN and Ss blood groups. GYPB gene consists of 5 exons and has 97% sequence homology with GYPA from the 5’ UTR to the coding sequence encoding the first 45 amino acids. In addition to the M or N and S or s antigens, that commonly occur in all populations, about 40 related variant phenotypes have been identified. These variants include all the variants of the Miltenberger complex and several isoforms of Sta; also, Dantu, Sat, He, Mg, and deletion variants Ena, S-s-U- and Mk. Most of the variants are the result of gene recombinations between GYPA and GYPB. Alternate splicing results in multiple transcript variants.

Source: NCBI Gene 2994 — RefSeq curated summary.

At a glance

• Gene–disease (curated): blood group, ss (Limited, GenCC)
• GWAS associations: 39
• Clinical variants (ClinVar): 18 total
• MANE Select transcript: NM_002100

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:4703
Approved symbol	GYPB
Name	glycophorin B (MNS blood group)
Location	4q31.21
Locus type	gene with protein product
Status	Approved
Aliases	GPB, SS, CD235b, PAS-3
Ensembl gene	ENSG00000250361
Ensembl biotype	protein_coding
OMIM	617923
Entrez	2994

Gene structure

Transcript identifiers

Ensembl transcripts: 16 — 5 protein_coding_CDS_not_defined, 4 protein_coding, 4 nonsense_mediated_decay, 3 retained_intron

ENST00000429670, ENST00000502664, ENST00000503255, ENST00000504951, ENST00000505583, ENST00000506516, ENST00000506679, ENST00000507009, ENST00000508618, ENST00000508841, ENST00000510196, ENST00000511198, ENST00000513128, ENST00000513557, ENST00000513677, ENST00000642935

RefSeq mRNA: 2 — MANE Select: NM_002100 NM_001304382, NM_002100

CCDS: CCDS54809, CCDS87264

Canonical transcript exons

ENST00000502664 — 5 exons

Exon	Start	End
ENSE00002086685	143996104	143996304
ENSE00003580166	144001185	144001283
ENSE00003600469	143999411	143999449
ENSE00003633939	143997540	143997634
ENSE00003898237	144019251	144019380

Expression profiles

Bgee: expression breadth ubiquitous, 164 present calls, max score 98.55.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0415 / max 14.1420, expressed in 15 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
54207	0.0415	15

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
trabecular bone tissue	UBERON:0002483	98.55	gold quality
bone marrow	UBERON:0002371	95.28	gold quality
bone marrow cell	CL:0002092	93.30	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	86.95	gold quality
monocyte	CL:0000576	85.33	gold quality
mononuclear cell	CL:0000842	85.23	gold quality
blood	UBERON:0000178	83.20	gold quality
adrenal tissue	UBERON:0018303	81.29	gold quality
leukocyte	CL:0000738	80.93	gold quality
buccal mucosa cell	CL:0002336	73.07	gold quality
calcaneal tendon	UBERON:0003701	66.66	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	65.87	gold quality
spleen	UBERON:0002106	63.64	gold quality
cervix squamous epithelium	UBERON:0006922	61.83	gold quality
corpus callosum	UBERON:0002336	61.53	gold quality
descending thoracic aorta	UBERON:0002345	60.97	gold quality
placenta	UBERON:0001987	59.69	gold quality
tendon	UBERON:0000043	58.59	gold quality
embryo	UBERON:0000922	58.09	gold quality
right coronary artery	UBERON:0001625	57.89	gold quality
ileal mucosa	UBERON:0000331	57.62	silver quality
ascending aorta	UBERON:0001496	55.24	gold quality
thoracic aorta	UBERON:0001515	55.18	gold quality
cingulate cortex	UBERON:0003027	54.99	gold quality
sural nerve	UBERON:0015488	54.97	silver quality
deltoid	UBERON:0001476	54.85	gold quality
right frontal lobe	UBERON:0002810	54.85	gold quality
anterior cingulate cortex	UBERON:0009835	54.62	gold quality
cerebellar vermis	UBERON:0004720	54.37	gold quality
upper lobe of left lung	UBERON:0008952	54.20	gold quality

Single-cell (SCXA)

Detected in 14 experiment(s), a significant marker in 11.

Experiment	Marker?	Max mean expression
E-MTAB-8205	yes	972.68
E-HCAD-24	yes	956.82
E-GEOD-109979	yes	123.38
E-CURD-112	yes	60.32
E-MTAB-10042	yes	54.97
E-MTAB-9221	yes	21.19
E-HCAD-9	yes	11.73
E-MTAB-9067	yes	11.42
E-MTAB-9388	yes	9.40
E-HCAD-10	yes	7.83
E-ANND-3	yes	4.35
E-CURD-98	no	1021.04
E-GEOD-75367	no	631.46
E-MTAB-9467	no	2.87

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): GATA1, KLF1, SP1

miRNA regulators (miRDB)

18 targeting GYPB, 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-4692	100.00	67.32	2066
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-3680-3P	99.75	72.51	3095
HSA-MIR-1827	99.63	68.57	3265
HSA-MIR-6832-5P	99.58	64.82	1132
HSA-MIR-4688	99.48	64.68	828
HSA-MIR-6743-5P	99.48	63.60	721
HSA-MIR-3123	99.47	67.15	2693
HSA-MIR-4316	99.37	65.75	1360
HSA-MIR-940	99.37	66.14	2064
HSA-MIR-6808-5P	99.31	66.23	2150
HSA-MIR-6893-5P	99.31	66.25	2119
HSA-MIR-3925-5P	99.21	67.90	1466
HSA-MIR-4773	98.35	67.30	1710
HSA-MIR-7156-3P	98.25	67.66	859
HSA-MIR-4768-3P	98.16	66.02	2330
HSA-MIR-645	97.28	66.30	486
HSA-MIR-6789-5P	94.05	66.19	285

Literature-anchored findings (GeneRIF, showing 27)

• Indochina I strain of P. falciparum is not dependent on glycophorin B to invade erythrocytse through a trypsin-resistant pathway as are the strains 3D7, HB3, and Dd2. (PMID:14638759)
• The S-s-U+var phenotype arises from changes in or around GYPB exon 5. (PMID:14641872)
• GYPA & GYPB genotypes carrying MNSs antigens were analyzed in Thai patients with cerebral malaria & mild malaria; no statistical difference was found; it is concluded that MNSs antigens do not reveal the difference in susceptibility to cerebral malaria (PMID:17372674)
• Alternative to conventional tube technique for mass screening for MNS hybrids, especially when specific antisera are not available. (PMID:17561857)
• Immunoblotting showed the presence of monomer and dimer forms of a GP(A-B) hybrid and an absence of GPA and GPB. Sequencing of DNA and PCR-RFLP using the restriction enzyme RsaI confirmed the presence of a hybrid GYP(AB). (PMID:18284304)
• The erythrocyte-binding domain, region 2 of EBL-1, bound glycophorin B(+) but (PMID:19279206)
• This study reports for the first time the molecular mechanisms responsible for the S-s- phenotype in a population of African Brazilians and provides new information about the frequency and molecular bases of the GYPB*S silent gene in this population. (PMID:19856717)
• an increased susceptibility to infection by this parasite is associated with the glycophorin B S+ variant in Brazilian Amazons (PMID:21283638)
• Substitution of GPB with Gp.Mur significantly reduced the expression of Rh antigen and RhAG on the Mi.III(+/+) erythrocyte membrane (PMID:21883272)
• A novel GYPB mutation (c.270+5G>A) accounting for the S-s-U+(var) phenotype was identified. (PMID:24738877)
• MNSs blood group glycophorin variants in Taiwan: a genotype-serotype correlation study of ‘Mi(a)’ and St(a) with report of two new alleles for St(a). (PMID:24858913)
• a complex structural rearrangement involving the loss of GYPB and gain of two GYPB-A hybrid genes reduces the risk of severe malaria by 40% and has recently increased in frequency in parts of Kenya (PMID:28522690)
• through bioinformatic analysis, identified extensive variation in GYPB transcript levels in individuals from Benin, suggesting selection from malaria pressure; collective data suggest that the GPA and GPB receptors are of greater importance than the GPC receptor, supporting a hierarchy of erythrocyte receptor usage in P. falciparum (PMID:28760933)
• A novel c.166A>T (p.Thr56Ser) mutation in GYPB*S decreases S antigen expression. (PMID:30523644)
• A GYPB variant encoding an altered leader peptide leads to a weak S phenotype. (PMID:30927367)
• Characterization of GYP*Mur and novel GYP*Bun-like hybrids in Thai blood donors reveals a qualitatively altered s antigen. (PMID:32201961)
• An unusual variant glycophorin expressing protease-resistant M antigen encoded by the GYPB-E(2-4)-B hybrid gene. (PMID:32314425)
• Novel hybrid genes and a splice site mutation encoding the St(a) antigen among Japanese blood donors. (PMID:32394466)
• Multiple GYPB gene deletions associated with the U- phenotype in those of African ancestry. (PMID:32473076)
• Structural variation of the malaria-associated human glycophorin A-B-E region. (PMID:32600246)
• High-throughput genotyping assays for identification of glycophorin B deletion variants in population studies. (PMID:33325748)
• A pair of S-silencing single nucleotide variants cis-linked on GYPB. (PMID:33733475)
• Molecular genetic analysis of Mi(a) -positive hybrid glycophorins revealed two novel alleles of GP.Vw and multiple variant transcripts of GYPB existing in both the homozygous GP.Mur and wild-type GPB individuals. (PMID:34117642)
• Joint efficacy of the three biomarkers SNCA, GYPB and HBG1 for atrial fibrillation and stroke: Analysis via the support vector machine neural network. (PMID:35138035)
• Characterization of alternatively spliced transcript variants of glycophorin A and glycophorin B genes in Chinese blood donors. (PMID:35138639)
• Uncommon S-s-U+ phenotype encoded by two novel GYPB alleles. (PMID:37921239)
• The study of variant s antigen expression revealing a novel c.160C>T (p.Arg54Cys) variant on GYPB*s allele associated with partial s phenotype. (PMID:38158881)

Cross-species orthologs

1 orthologs

Organism	Symbol	Gene ID
mus_musculus	Gypa	ENSMUSG00000051839

Paralogs (2): GYPA (ENSG00000170180), GYPE (ENSG00000197465)

Protein

Protein identifiers

Glycophorin-B — P06028 (reviewed: P06028)

Alternative names: PAS-3, SS-active sialoglycoprotein, Sialoglycoprotein delta

All UniProt accessions (5): D6RA87, D6RAD9, D6RBP2, E7ERJ5, P06028

UniProt curated annotations — full annotation on UniProt →

Function. Component of the ankyrin-1 complex, a multiprotein complex involved in the stability and shape of the erythrocyte membrane.

Subunit / interactions. Component of the ankyrin-1 complex in the erythrocyte, composed of ANK1, RHCE, RHAG, SLC4A1, EPB42, GYPA, GYPB and AQP1. Interacts (via the N-terminal) with RHAG; this interaction bridges the (RHAG)2(RHCE) heterotrimer with the SLC4A1 Band 3 I dimer complexed with GYPA.

Subcellular location. Cell membrane.

Post-translational modifications. The N-terminal extracellular domain is heavily glycosylated on serine and threonine residues.

Polymorphism. Along with GYPA, GYPB is responsible for the MNS blood group system. The molecular basis of the S/s blood group antigen is a single variation in position 48; Thr-48 corresponds to s=MSN4 and Met-48 to S=MNS3.

Similarity. Belongs to the glycophorin-A family.

Isoforms (2)

UniProt ID	Names	Canonical?
P06028-1	1	yes
P06028-2	2

RefSeq proteins (2): NP_001291311, NP_002091* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001195	Glycophorin	Family
IPR018938	Glycophorin_CS	Conserved_site
IPR049535	GYPA_B	Family

Pfam: PF01102

UniProt features (17 total): sequence variant 5, topological domain 2, site 2, glycosylation site 2, signal peptide 1, chain 1, sequence conflict 1, helix 1, transmembrane region 1, splice variant 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
8CS9	ELECTRON MICROSCOPY	2.74
8CRT	ELECTRON MICROSCOPY	3
8CSL	ELECTRON MICROSCOPY	25

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P06028-F1	66.52	0.04

Functional residue map

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

Catalytic / active sites (2): 33 (not glycosylated); 34 (not glycosylated)

Glycosylation sites (2): 36, 38

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-202733	Cell surface interactions at the vascular wall

MSigDB gene sets: 84 (showing top): MODULE_45, MODULE_64, KYNG_DNA_DAMAGE_DN, MODULE_16, GNF2_ANK1, BLALOCK_ALZHEIMERS_DISEASE_UP, GNF2_SPTA1, GNF2_PCAF, MODULE_88, MODULE_18, MODULE_95, REACTOME_CELL_SURFACE_INTERACTIONS_AT_THE_VASCULAR_WALL, GNF2_MAP2K3, MODULE_539, GOCC_MEMBRANE_PROTEIN_COMPLEX

GO Biological Process (0):

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (3): plasma membrane (GO:0005886), ankyrin-1 complex (GO:0170014), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Hemostasis	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1
membrane	1
cell periphery	1
membrane protein complex	1
cellular anatomical structure	1

Protein interactions and networks

STRING

816 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GYPB	CD47	Q08722	993
GYPB	RHAG	Q02094	993
GYPB	H3BT10	H3BT10	964
GYPB	GYPC	P04921	958
GYPB	RHCE	P18577	955
GYPB	GYPA	P02724	899
GYPB	ALAS2	P22557	778
GYPB	SLC4A1	P02730	769
GYPB	HBE1	P02100	728
GYPB	ICAM4	Q14773	723
GYPB	HBB	P02023	699
GYPB	FREM3	P0C091	696
GYPB	ACKR1	Q16570	690
GYPB	CD36	P16671	636
GYPB	SCARB2	Q14108	629

IntAct

22 interactions, top by confidence:

A	B	Type	Score
GYPB	UBQLN1	psi-mi:“MI:0915”(physical association)	0.720
UBQLN1	GYPB	psi-mi:“MI:0915”(physical association)	0.720
UBQLN1	GYPB	psi-mi:“MI:0915”(physical association)	0.560
GYPB	UBQLN1	psi-mi:“MI:0915”(physical association)	0.560
GYPB	S1PR3	psi-mi:“MI:0915”(physical association)	0.560
GYPB	HSD17B13	psi-mi:“MI:0915”(physical association)	0.560
GYPB	REEP4	psi-mi:“MI:0915”(physical association)	0.560
GYPB	TCAF2	psi-mi:“MI:0914”(association)	0.530
MPO	GYPB	psi-mi:“MI:0915”(physical association)	0.400
GYPB	REEP4	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (98): UBQLN1 (Two-hybrid), UBQLN1 (Two-hybrid), RANBP17 (Affinity Capture-MS), SMYD4 (Affinity Capture-MS), ESRRA (Affinity Capture-MS), FANCG (Affinity Capture-MS), FAM115C (Affinity Capture-MS), UTP20 (Affinity Capture-MS), PDS5A (Affinity Capture-MS), BZW1 (Affinity Capture-MS), EIF2B3 (Affinity Capture-MS), EIF2B4 (Affinity Capture-MS), PDS5B (Affinity Capture-MS), EIF2B1 (Affinity Capture-MS), SHCBP1 (Affinity Capture-MS)

ESM2 similar proteins: A0A146B485, A0A146B5A4, A0A158RFT4, A0A1B0GWG4, E2J6T4, F5HB98, F5HC14, F5HGU6, F5HHQ0, F5HHS3, G5EEV9, O55653, P02724, P02727, P03224, P06028, P0DQV0, P11320, P11450, P15421, P16721, P16739, P16742, P16744, P16795, P16843, P16845, P17590, P24935, P32515, P35770, P42287, P68326, P68329, P69338, P69339, Q03345, Q28913, Q28914, Q63064

Diamond homologs: P02724, P02726, P02727, P06028, P14220, P14221, P15421, Q28913, Q28914, Q28915

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
GYPB	“form complex”	“Ankyrin complex”	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	12
Likely benign	2
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

909 predictions. Top by Δscore:

Variant	Effect	Δscore
4:143999407:ATAC:A	donor_loss	1.0000
4:143999408:TA:T	donor_loss	1.0000
4:143999410:C:CT	donor_loss	1.0000
4:144000382:A:C	donor_gain	1.0000
4:143997594:A:T	acceptor_gain	0.9900
4:143997635:C:CC	acceptor_gain	0.9900
4:143999446:TCTCC:T	acceptor_loss	0.9900
4:143999447:CTC:C	acceptor_gain	0.9900
4:143999448:TCC:T	acceptor_loss	0.9900
4:143999449:CCT:C	acceptor_loss	0.9900
4:143999450:C:CC	acceptor_gain	0.9900
4:143999450:CT:C	acceptor_loss	0.9900
4:143999451:T:A	acceptor_loss	0.9900
4:143996301:ATGCC:A	acceptor_loss	0.9800
4:143996303:GCC:G	acceptor_loss	0.9800
4:143996304:CCTG:C	acceptor_loss	0.9800
4:143996305:C:T	acceptor_loss	0.9800
4:143996306:T:A	acceptor_loss	0.9800
4:143997600:C:CT	acceptor_gain	0.9800
4:143997632:GAGCT:G	acceptor_gain	0.9800
4:143997633:AGCT:A	acceptor_gain	0.9800
4:143997634:GCTAA:G	acceptor_gain	0.9800
4:143997635:C:A	acceptor_gain	0.9800
4:143997636:T:A	acceptor_gain	0.9800
4:144019247:TTAC:T	donor_loss	0.9800
4:144019249:ACC:A	donor_loss	0.9800
4:144019250:C:CA	donor_loss	0.9800
4:144019250:CCTGA:C	donor_gain	0.9800
4:143996300:CATGC:C	acceptor_gain	0.9700
4:143996305:C:CC	acceptor_gain	0.9700

AlphaMissense

565 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:143997584:C:G	G76R	0.958
4:143997584:C:T	G76R	0.958
4:143997583:C:T	G76E	0.948
4:143999421:G:C	F55L	0.928
4:143999421:G:T	F55L	0.928
4:143999423:A:G	F55L	0.928
4:143997605:A:G	C69R	0.912
4:143997593:C:G	G73R	0.906
4:143997592:C:T	G73D	0.872
4:143997598:A:C	M71R	0.844
4:143997596:C:G	A72P	0.842
4:143997595:G:T	A72D	0.840
4:143997616:A:T	L65H	0.823
4:143997619:A:T	I64K	0.819
4:143997574:A:G	L79P	0.814
4:143997598:A:T	M71K	0.806
4:143997574:A:T	L79H	0.788
4:143997558:A:C	S84R	0.787
4:143997558:A:T	S84R	0.787
4:143997560:T:G	S84R	0.787
4:144019267:A:C	F7L	0.778
4:144019267:A:T	F7L	0.778
4:144019269:A:G	F7L	0.778
4:143997586:A:T	I75N	0.753
4:144019265:A:T	V8E	0.740
4:143999422:A:C	F55C	0.738
4:143997619:A:C	I64R	0.731
4:143997574:A:C	L79R	0.730
4:143997583:C:A	G76V	0.705
4:143997603:A:C	C69W	0.691

dbSNP variants (sampled 300 via entrez): RS1000030451 (4:144010527 T>A), RS1000100766 (4:144015984 C>T), RS1000192462 (4:144002129 A>G), RS10002395 (4:144011706 T>C,G), RS1000250474 (4:144010691 A>G), RS1000300133 (4:143997603 A>C), RS1000351917 (4:143997812 A>G), RS1000555971 (4:144016310 T>TCTTTC), RS1000589356 (4:144011611 G>A,T), RS1000643928 (4:143998990 C>G), RS1000696076 (4:143999145 T>A,C), RS1000813739 (4:144002396 T>A,C), RS1001293466 (4:143994854 A>G), RS1001558867 (4:144017155 A>G,T), RS1002044461 (4:144013156 A>C,G,T)

Disease associations

OMIM: gene MIM:617923 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
blood group, ss	Limited	Autosomal dominant

Mondo (1): (MONDO:0020620)

Orphanet (0):

HPO phenotypes

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

GWAS associations

39 associations (top):

Study	Trait	p-value
GCST003145_1	Severe malaria	4.000000e-11
GCST003145_3	Severe malaria	1.000000e-10
GCST004068_17	Venous thromboembolism adjusted for sickle cell variant rs77121243-T	8.000000e-06
GCST004602_30	Mean corpuscular volume	1.000000e-12
GCST004603_223	Platelet count	4.000000e-09
GCST004605_69	Mean corpuscular hemoglobin concentration	2.000000e-18
GCST004607_227	Plateletcrit	2.000000e-12
GCST004619_13	Reticulocyte fraction of red cells	1.000000e-19
GCST004622_168	Reticulocyte count	1.000000e-16
GCST004625_10	Monocyte count	1.000000e-12
GCST004630_144	Mean corpuscular hemoglobin	6.000000e-13
GCST008359_9	Response to cognitive-behavioural therapy in anxiety disorder	7.000000e-06
GCST010725_4	Malaria	4.000000e-10
GCST010725_84	Malaria	7.000000e-11
GCST010725_89	Malaria	7.000000e-11
GCST012227_1296	Hip circumference adjusted for BMI	8.000000e-09
GCST90002385_258	High light scatter reticulocyte count	2.000000e-136
GCST90002385_259	High light scatter reticulocyte count	4.000000e-20
GCST90002386_6	High light scatter reticulocyte percentage of red cells	1.000000e-22
GCST90002390_222	Mean corpuscular hemoglobin	2.000000e-12
GCST90002390_223	Mean corpuscular hemoglobin	4.000000e-25
GCST90002391_11	Mean corpuscular hemoglobin concentration	5.000000e-28
GCST90002392_669	Mean corpuscular volume	2.000000e-31
GCST90002393_138	Monocyte count	2.000000e-21
GCST90002396_237	Mean reticulocyte volume	7.000000e-47
GCST90002396_239	Mean reticulocyte volume	5.000000e-12
GCST90002397_23	Mean spheric corpuscular volume	7.000000e-23
GCST90002398_460	Neutrophil count	3.000000e-16
GCST90002400_669	Plateletcrit	3.000000e-10
GCST90002400_670	Plateletcrit	4.000000e-16

EFO canonical traits (11, from GWAS)

EFO ID	Trait name
EFO:0004309	platelet count
EFO:0004528	mean corpuscular hemoglobin concentration
EFO:0007985	platelet crit
EFO:0007986	reticulocyte count
EFO:0005091	monocyte count
EFO:0004527	mean corpuscular hemoglobin
EFO:0007820	cognitive behavioural therapy
EFO:0008039	BMI-adjusted hip circumference
EFO:0010701	mean reticulocyte volume
EFO:0004833	neutrophil count
EFO:0004305	erythrocyte count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

10 total (human), top 10 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases expression, decreases methylation	2
nickel sulfate	decreases expression	1
Diethylhexyl Phthalate	decreases expression	1
Dinitrochlorobenzene	decreases expression	1
Eugenol	decreases expression	1
Lead	increases expression	1
Tetrachlorodibenzodioxin	decreases expression	1
Thimerosal	increases expression	1
Valproic Acid	decreases methylation	1
Aflatoxin B1	decreases methylation	1

Cellosaurus cell lines

3 cell lines: 3 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_C0XD	BEL-A GPB KO	Transformed cell line	Sex unspecified
CVCL_C0XH	BEL-A 4x KO	Transformed cell line	Sex unspecified
CVCL_C0XI	BEL-A 5x KO	Transformed cell line	Sex unspecified

Clinical trials (associated diseases)

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