CD1E

Summary

CD1E (CD1e molecule, HGNC:1638) is a protein-coding gene on chromosome 1q23.1, encoding T-cell surface glycoprotein CD1e, membrane-associated (P15812). T-cell surface glycoprotein CD1e, soluble binds diacetylated lipids, including phosphatidyl inositides and diacylated sulfoglycolipids, and is required for the presentation of glycolipid antigens on the cell surface.

This gene encodes a member of the CD1 family of transmembrane glycoproteins, which are structurally related to the major histocompatibility complex (MHC) proteins and form heterodimers with beta-2-microglobulin. The CD1 proteins mediate the presentation of primarily lipid and glycolipid antigens of self or microbial origin to T cells. The human genome contains five CD1 family genes organized in a cluster on chromosome 1. The CD1 family members are thought to differ in their cellular localization and specificity for particular lipid ligands. The protein encoded by this gene localizes within Golgi compartments, endosomes, and lysosomes, and is cleaved into a stable soluble form. The soluble form is required for the intracellular processing of some glycolipids into a form that can be presented by other CD1 family members. Many alternatively spliced transcript variants encoding different isoforms have been described. Additional transcript variants have been found; however, their biological validity has not been determined.

Source: NCBI Gene 913 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 70 total — 1 likely-pathogenic
• MANE Select transcript: NM_030893

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1638
Approved symbol	CD1E
Name	CD1e molecule
Location	1q23.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000158488
Ensembl biotype	protein_coding
OMIM	188411
Entrez	913

Gene structure

Transcript identifiers

Ensembl transcripts: 19 — 18 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000368154, ENST00000368155, ENST00000368156, ENST00000368157, ENST00000368160, ENST00000368161, ENST00000368162, ENST00000368163, ENST00000368164, ENST00000368165, ENST00000368166, ENST00000368167, ENST00000444681, ENST00000452291, ENST00000464822, ENST00000882312, ENST00000882313, ENST00000882314, ENST00000951300

RefSeq mRNA: 13 — MANE Select: NM_030893 NM_001042583, NM_001042584, NM_001042585, NM_001042586, NM_001042587, NM_001185107, NM_001185108, NM_001185110, NM_001185112, NM_001185113, NM_001185114, NM_001185115, NM_030893

CCDS: CCDS41417, CCDS41418, CCDS41419, CCDS41420, CCDS41421, CCDS41422, CCDS53384, CCDS53385, CCDS53386, CCDS53387, CCDS53388, CCDS53389, CCDS53390

Canonical transcript exons

ENST00000368167 — 6 exons

Exon	Start	End
ENSE00001039224	158355300	158355569
ENSE00001168041	158354377	158354673
ENSE00001446453	158353894	158354046
ENSE00002228805	158356728	158357553
ENSE00002425255	158355827	158356105
ENSE00003642396	158356498	158356591

Expression profiles

Bgee: expression breadth ubiquitous, 148 present calls, max score 97.61.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 3.1614 / max 1607.9373, expressed in 77 samples.

FANTOM5 promoters (36 alternative TSS)

Promoter ID	TPM avg	Samples expressed
5867	2.1042	66
5876	0.1626	10
5859	0.1434	7
5866	0.1114	10
5873	0.0991	12
5879	0.0682	5
5860	0.0663	6
5877	0.0560	5
5862	0.0470	5
5875	0.0466	7

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
thymus	UBERON:0002370	97.61	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	87.46	gold quality
buccal mucosa cell	CL:0002336	86.78	gold quality
upper leg skin	UBERON:0004262	84.74	gold quality
gall bladder	UBERON:0002110	74.19	gold quality
granulocyte	CL:0000094	73.01	gold quality
skin of hip	UBERON:0001554	72.89	gold quality
leukocyte	CL:0000738	71.56	gold quality
monocyte	CL:0000576	71.44	gold quality
mononuclear cell	CL:0000842	71.24	gold quality
lymph node	UBERON:0000029	70.35	gold quality
rectum	UBERON:0001052	69.91	gold quality
palpebral conjunctiva	UBERON:0001812	69.54	gold quality
epithelial cell of pancreas	CL:0000083	68.45	gold quality
type B pancreatic cell	CL:0000169	67.73	gold quality
skin of abdomen	UBERON:0001416	67.02	gold quality
vermiform appendix	UBERON:0001154	66.87	gold quality
zone of skin	UBERON:0000014	66.08	gold quality
oral cavity	UBERON:0000167	64.98	silver quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	64.73	gold quality
cervix squamous epithelium	UBERON:0006922	64.22	gold quality
esophagus mucosa	UBERON:0002469	64.06	gold quality
esophagus squamous epithelium	UBERON:0006920	64.02	silver quality
skin of leg	UBERON:0001511	63.85	gold quality
caecum	UBERON:0001153	62.68	gold quality
lateral nuclear group of thalamus	UBERON:0002736	62.27	gold quality
epithelium of esophagus	UBERON:0001976	62.23	silver quality
squamous epithelium	UBERON:0006914	62.07	silver quality
tongue squamous epithelium	UBERON:0006919	61.64	gold quality
smooth muscle tissue	UBERON:0001135	60.89	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 5.

Experiment	Marker?	Max mean expression
E-CURD-79	yes	3584.69
E-MTAB-6505	yes	1989.26
E-ANND-5	yes	662.79
E-MTAB-8410	yes	13.34
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

56 targeting CD1E, 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-3924	100.00	72.09	2394
HSA-MIR-3134	100.00	66.43	777
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-2110	99.96	66.68	1930
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-539-5P	99.93	70.30	2855
HSA-MIR-338-5P	99.92	72.34	2951
HSA-MIR-3529-3P	99.90	73.55	3045
HSA-MIR-4697-3P	99.89	67.09	1123
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-636	99.80	69.58	1500
HSA-MIR-498-5P	99.76	69.64	1807
HSA-MIR-3150A-3P	99.76	64.44	1640
HSA-MIR-6763-5P	99.76	64.68	1767
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-7157-5P	99.66	69.33	1829
HSA-MIR-452-5P	99.65	69.63	1762
HSA-MIR-4676-3P	99.65	69.31	1733
HSA-MIR-892C-3P	99.65	69.38	1745
HSA-MIR-1290	99.59	69.90	2079
HSA-MIR-4310	99.59	68.84	2527
HSA-MIR-3942-3P	99.57	69.03	2854
HSA-MIR-4276	99.56	67.66	2514
HSA-MIR-548G-3P	99.48	68.67	2159
HSA-MIR-6165	99.44	67.12	1389
HSA-MIR-1276	99.36	68.18	1642

Literature-anchored findings (GeneRIF, showing 20)

• substitutions lead to amino acid changes at position 73 and 77 of the alpha1 domain in the former and at position 30 of the alpha2 domain in the latter suggesting that the CD1E gene is much more polymorphic than previously assumed. (PMID:12144626)
• cellular and biochemical properties of the human and simian CD1e molecules are similar, suggesting that the particular intracellular distribution of CD1e is important for its physiological and/or immunological function (PMID:12671734)
• required for processing of the mycobcterial antigens hexamannosylated phosphatidyl-myo-inositols(PIM6); propose that, through this form of glycolipid editing, CD1e helps expand the repertoire of glycolipidic T cell antigens to optimize immune response (PMID:16311334)
• Data show that ubiquitination of CD1e appears to trigger its exit from Golgi compartments and its transport to endosomes. (PMID:18208508)
• A polymorphism related to the capacity of the CD1E molecule to participate in the immune response to complex glycolipids is discovered in individuals who might display a CD1e-altered immune response to complex glycolipid antigens. (PMID:18325888)
• SNPs in CD1A and CD1E were not associated with GBS susceptibility, specific clinical subgroups, anti-ganglioside antibodies, antecedent infections and prognosis. (PMID:18838176)
• CD1e propeptide is conserved during evolution, suggesting that it may also optimize the generation of CD1e molecules in other species. (PMID:19196239)
• CD1E and CD1A genes may be involved in networks which determine susceptibility to multiple sclerosis types RR-MS and PP-MS, respectively. (PMID:20954848)
• in the late endosomes/lysosomes of dendritic cells, the acid pH promotes the binding of lipid antigens to CD1e through increased hydrophobic and ionic interactions (PMID:21481186)
• CD1A and CD1E polymorphisms contribute to the polygenic susceptibility to multiple sclerosis (PMID:21496400)
• In Guillain-Barre syndrome, an initially positive association study with polymorphism of CD1A and CD1E genes was not confirmed (PMID:21696499)
• These data support that CD1e could have evolved to mediate lipid-exchange/editing processes. (PMID:21788486)
• CD1e may positively or negatively affect lipid presentation by CD1b, CD1c, and CD1d. (PMID:21844346)
• allelic variation in CD1E does not play a major role in determining multifocal motor neuropathy susceptibility. (PMID:22003931)
• Deciphering the role of CD1e protein in mycobacterial phosphatidyl-myo-inositol mannosides (PIM) processing for presentation by CD1b to T lymphocytes (PMID:22782895)
• The interaction of LAPTM5 with CD1e and their colocalization in antigen processing compartments both suggest that LAPTM5 might influence the role of CD1e in the presentation of lipid antigens. (PMID:22880058)
• for isoforms CD1b through CD1e, our simulations show the near-complete collapse of the hydrophobic cavities in the absence of the antigen. This event results from the spontaneous closure of the binding domain entrance, flanked by two alpha-helices. (PMID:23677998)
• There was no association between polymorphisms of CD1E genes and the susceptibilities to Guillain-Barre syndrome. (PMID:27653862)
• Single nucleotide polymorphisms in exon 2 of CD1A (*01/*02) and CD1E (*01/*02) cannot be recognized as a susceptibility or disease-causative factor for Guillain-Barre syndrome in the Bangladeshi population (PMID:29301656)
• CD1 gene polymorphism and susceptibility to celiac disease: Association of CD1E*02/02 in Moroccans. (PMID:32467040)

Cross-species orthologs

11 orthologs

Organism	Symbol	Gene ID
danio_rerio	mhc1laa	ENSDARG00000016056
danio_rerio	mhc1lba	ENSDARG00000016227
danio_rerio	mhc1lda	ENSDARG00000023203
danio_rerio		ENSDARG00000051710
danio_rerio		ENSDARG00000051711
danio_rerio	mhc1lfa	ENSDARG00000051712
danio_rerio	mhc1lga	ENSDARG00000051713
danio_rerio	mhc1lca	ENSDARG00000055813
danio_rerio	mhc1lja	ENSDARG00000096830
danio_rerio	si:dkey-52p2.5	ENSDARG00000096940
danio_rerio	mhc1lla	ENSDARG00000096977

Paralogs (22): HFE (ENSG00000010704), FCGRT (ENSG00000104870), ULBP1 (ENSG00000111981), ULBP2 (ENSG00000131015), ULBP3 (ENSG00000131019), MR1 (ENSG00000153029), RAET1L (ENSG00000155918), CD1D (ENSG00000158473), CD1A (ENSG00000158477), CD1C (ENSG00000158481), CD1B (ENSG00000158485), AZGP1 (ENSG00000160862), RAET1E (ENSG00000164520), RAET1G (ENSG00000203722), MICB (ENSG00000204516), MICA (ENSG00000204520), HLA-C (ENSG00000204525), HLA-E (ENSG00000204592), HLA-G (ENSG00000204632), HLA-F (ENSG00000204642), HLA-A (ENSG00000206503), HLA-B (ENSG00000234745)

Protein

Protein identifiers

T-cell surface glycoprotein CD1e, membrane-associated — P15812 (reviewed: P15812)

Alternative names: R2G1

All UniProt accessions (2): P15812, H0Y345

UniProt curated annotations — full annotation on UniProt →

Function. T-cell surface glycoprotein CD1e, soluble binds diacetylated lipids, including phosphatidyl inositides and diacylated sulfoglycolipids, and is required for the presentation of glycolipid antigens on the cell surface. The membrane-associated form is not active.

Subunit / interactions. Heterodimer with B2M (beta-2-microglobulin). The association with B2M appears to be facilitated by the presence of the propeptide.

Subcellular location. Golgi apparatus membrane. Early endosome. Late endosome Lysosome lumen.

Tissue specificity. Expressed on cortical thymocytes, dendritic cells, Langerhans cells, on certain T-cell leukemias, and in various other tissues.

Post-translational modifications. Mono-ubiquitinated. Proteolytically cleaved in late endosomes to yield a soluble form.

Polymorphism. Six alleles of CD1E are known. CD1E01 has His-102/Gln-106/Ser-149/Arg-164/Leu-194, CD1E02 has His-102/Arg-106/Ser-149/Arg-164/Leu-194, CD1E03 (9L) has His-102/Gln-106/Ser-149/Trp-164/Leu-194, CD1E04 (15L) has His-102/Gln-106/Ser-149/Arg-164/Pro-194, CD1E05 has Arg-102/Arg-106/Ser-149/Arg-164/Leu-194 and CD1E06 has His-102/Arg-106/Asn-149/Arg-164/Leu-194. The sequence shown is that of allele CD1E*01.

Isoforms (13)

UniProt ID	Names	Canonical?
P15812-1	1	yes
P15812-2	2
P15812-3	3
P15812-4	4
P15812-5	5
P15812-6	6
P15812-7	7
P15812-8	8
P15812-9	9
P15812-10	10
P15812-11	11
P15812-12	12
P15812-13	13

RefSeq proteins (13): NP_001036048, NP_001036049, NP_001036050, NP_001036051, NP_001036052, NP_001172036, NP_001172037, NP_001172039, NP_001172041, NP_001172042, NP_001172043, NP_001172044, NP_112155* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003597	Ig_C1-set	Domain
IPR007110	Ig-like_dom	Domain
IPR011161	MHC_I-like_Ag-recog	Domain
IPR011162	MHC_I/II-like_Ag-recog	Homologous_superfamily
IPR013783	Ig-like_fold	Homologous_superfamily
IPR036179	Ig-like_dom_sf	Homologous_superfamily
IPR037055	MHC_I-like_Ag-recog_sf	Homologous_superfamily
IPR050208	MHC_class-I_related	Family

Pfam: PF07654, PF16497

UniProt features (53 total): strand 18, splice variant 7, sequence variant 6, turn 6, helix 5, chain 2, sequence conflict 2, glycosylation site 2, signal peptide 1, propeptide 1, transmembrane region 1, domain 1, disulfide bond 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
3S6C	X-RAY DIFFRACTION	2.9

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P15812-F1	81.66	0.66

Functional residue map

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

Disulfide bonds (1): 230–285

Glycosylation sites (2): 47, 84

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 175 (showing top): WALLACE_PROSTATE_CANCER_RACE_UP, GOBP_POSITIVE_REGULATION_OF_ADAPTIVE_IMMUNE_RESPONSE, GOBP_REGULATION_OF_ADAPTIVE_IMMUNE_RESPONSE, GOCC_CELL_SURFACE, GOBP_LEUKOCYTE_MEDIATED_CYTOTOXICITY, GOBP_ANTIGEN_PROCESSING_AND_PRESENTATION_VIA_MHC_CLASS_IB, GOBP_LEUKOCYTE_MEDIATED_IMMUNITY, PUJANA_CHEK2_PCC_NETWORK, BROWNE_HCMV_INFECTION_48HR_DN, GOBP_POSITIVE_REGULATION_OF_T_CELL_MEDIATED_CYTOTOXICITY, GOBP_REGULATION_OF_IMMUNE_RESPONSE, RUTELLA_RESPONSE_TO_CSF2RB_AND_IL4_UP, GOBP_LYMPHOCYTE_MEDIATED_IMMUNITY, GOBP_ANTIGEN_PROCESSING_AND_PRESENTATION, GOBP_REGULATION_OF_T_CELL_MEDIATED_CYTOTOXICITY

GO Biological Process (6): positive regulation of T cell mediated cytotoxicity (GO:0001916), adaptive immune response (GO:0002250), immune response (GO:0006955), antigen processing and presentation, endogenous lipid antigen via MHC class Ib (GO:0048006), antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007), immune system process (GO:0002376)

GO Molecular Function (4): endogenous lipid antigen binding (GO:0030883), exogenous lipid antigen binding (GO:0030884), lipopeptide binding (GO:0071723), lipid binding (GO:0008289)

GO Cellular Component (12): Golgi membrane (GO:0000139), obsolete extracellular space (GO:0005615), nucleolus (GO:0005730), early endosome (GO:0005769), late endosome (GO:0005770), Golgi apparatus (GO:0005794), plasma membrane (GO:0005886), external side of plasma membrane (GO:0009897), lysosomal lumen (GO:0043202), lysosome (GO:0005764), endosome (GO:0005768), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
antigen processing and presentation of lipid antigen via MHC class Ib	2
lipid antigen binding	2
endosome	2
endomembrane system	2
positive regulation of leukocyte mediated cytotoxicity	1
T cell mediated cytotoxicity	1
regulation of T cell mediated cytotoxicity	1
positive regulation of T cell mediated immunity	1
immune response	1
immune system process	1
response to stimulus	1
antigen processing and presentation of endogenous antigen	1
antigen processing and presentation of exogenous antigen	1
biological_process	1
lipid binding	1
binding	1
Golgi apparatus	1
bounding membrane of organelle	1
nuclear lumen	1
intracellular membraneless organelle	1
cytoplasm	1
intracellular membrane-bounded organelle	1
membrane	1
cell periphery	1
plasma membrane	1
cell surface	1
side of membrane	1
lysosome	1
vacuolar lumen	1
lytic vacuole	1
cytoplasmic vesicle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1580 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CD1E	CD207	Q9UJ71	930
CD1E	CD83	Q01151	915
CD1E	CD68	P34810	903
CD1E	CD86	P42081	790
CD1E	CD80	P33681	786
CD1E	CD4	P01730	783
CD1E	CD5	P06127	755
CD1E	B2M	P01884	737
CD1E	CSF2	P04141	731
CD1E	CD34	P28906	724
CD1E	CD7	P09564	723
CD1E	CD8A	P01732	720
CD1E	CD40	P25942	717
CD1E	MAN2B1	O00754	714
CD1E	IL4	P05112	712

IntAct

3 interactions, top by confidence:

A	B	Type	Score
CD1E	SUSD5	psi-mi:“MI:0914”(association)	0.530
CD1E	ADAM10	psi-mi:“MI:0914”(association)	0.350

BioGRID (59): CD1E (Proximity Label-MS), FCGRT (Affinity Capture-MS), SUSD5 (Affinity Capture-MS), FNDC3A (Affinity Capture-MS), C1QL1 (Affinity Capture-MS), TMEM59L (Affinity Capture-MS), CANX (Affinity Capture-MS), DPAGT1 (Affinity Capture-MS), CTAGE5 (Affinity Capture-MS), B2M (Affinity Capture-MS), KCNJ8 (Affinity Capture-MS), ENTPD7 (Affinity Capture-MS), BACE2 (Affinity Capture-MS), FAM69A (Affinity Capture-MS), POMT1 (Affinity Capture-MS)

ESM2 similar proteins: O35799, O62848, P01898, P01899, P06126, P06339, P10321, P11609, P11610, P13747, P13752, P13753, P14429, P14430, P15812, P15813, P15978, P16212, P16215, P17693, P23043, P29016, P29017, P30511, P30515, P30516, P30517, P60018, P70387, Q28565, Q29422, Q30201, Q3ZCH5, Q4ACW4, Q5YB65, Q63493, Q95IT1, Q95IT3, Q9GKZ0, Q9GL41

Diamond homologs: O62848, P04440, P06126, P11609, P11610, P13762, P15812, P15813, P18470, P20756, P23042, P23043, P23068, P29016, P29017, P79483, P80943, Q07717, Q28565, Q29422, Q30154, Q4ACW4, Q5YB65, Q63493, Q8AYH8, Q9QZY5, Q9QZY6, Q9QZY7, Q9QZY8, Q9QZY9, Q9QZZ0, Q9QZZ1, Q9QZZ2, Q9XS72, C1ITJ8, P01888, P01896, P15979, Q9BD50, P01911

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	48
Likely benign	5
Benign	2

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
2685732	GRCh37/hg19 1q23.1-23.3(chr1:158001058-162858285)x1	Likely pathogenic

SpliceAI

769 predictions. Top by Δscore:

Variant	Effect	Δscore
1:158353846:G:T	donor_gain	0.9900
1:158356726:A:AG	acceptor_gain	0.9900
1:158356727:G:GG	acceptor_gain	0.9900
1:158356757:C:G	acceptor_gain	0.9900
1:158353846:G:GT	donor_gain	0.9800
1:158356756:A:AG	acceptor_gain	0.9800
1:158356763:GCCCT:G	acceptor_gain	0.9800
1:158354613:T:G	donor_gain	0.9700
1:158354670:GAAT:G	donor_gain	0.9700
1:158354674:G:GG	donor_gain	0.9700
1:158355825:A:AG	acceptor_gain	0.9700
1:158355826:G:GG	acceptor_gain	0.9700
1:158353859:G:GT	donor_gain	0.9600
1:158354583:GAGC:G	donor_gain	0.9600
1:158355269:ATAAT:A	acceptor_gain	0.9600
1:158355271:A:AG	acceptor_gain	0.9600
1:158355298:A:AG	acceptor_gain	0.9600
1:158355299:G:GG	acceptor_gain	0.9600
1:158356117:C:G	donor_gain	0.9600
1:158356727:GTTC:G	acceptor_gain	0.9600
1:158356727:GTTCA:G	acceptor_gain	0.9600
1:158356758:A:AG	acceptor_gain	0.9600
1:158353824:G:GT	donor_gain	0.9500
1:158353888:G:T	donor_gain	0.9500
1:158355295:CTCAG:C	acceptor_loss	0.9500
1:158355296:TCA:T	acceptor_loss	0.9500
1:158355297:CAGAC:C	acceptor_loss	0.9500
1:158355298:A:G	acceptor_loss	0.9500
1:158355271:AAT:A	acceptor_gain	0.9400
1:158355482:G:GT	donor_gain	0.9400

AlphaMissense

2519 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:158355904:T:C	F235L	0.989
1:158355906:C:A	F235L	0.989
1:158355906:C:G	F235L	0.989
1:158355933:G:C	W244C	0.983
1:158355933:G:T	W244C	0.983
1:158355931:T:A	W244R	0.971
1:158355931:T:C	W244R	0.971
1:158356068:C:A	H289Q	0.968
1:158356068:C:G	H289Q	0.968
1:158354451:T:C	F45L	0.966
1:158354453:T:A	F45L	0.966
1:158354453:T:G	F45L	0.966
1:158356072:A:C	S291R	0.964
1:158356074:T:A	S291R	0.964
1:158356074:T:G	S291R	0.964
1:158355889:T:A	C230S	0.963
1:158355890:G:C	C230S	0.963
1:158355889:T:C	C230R	0.958
1:158356054:T:A	C285S	0.956
1:158356055:G:C	C285S	0.956
1:158354556:T:A	W80R	0.949
1:158354556:T:C	W80R	0.949
1:158355407:T:A	W155R	0.948
1:158355407:T:C	W155R	0.948
1:158355891:C:G	C230W	0.947
1:158354558:G:C	W80C	0.946
1:158354558:G:T	W80C	0.946
1:158355905:T:C	F235S	0.943
1:158356067:A:G	H289R	0.943
1:158355890:G:A	C230Y	0.942

dbSNP variants (sampled 300 via entrez): RS1000634046 (1:158355854 G>A), RS1000913010 (1:158357316 A>T), RS1000936446 (1:158355440 C>A,T), RS1001005830 (1:158352190 G>T), RS1001334616 (1:158353257 C>T), RS1001610020 (1:158352875 T>C,G), RS1003150864 (1:158354125 G>T), RS1003490522 (1:158356988 T>C), RS1003638372 (1:158357186 G>A,T), RS1003933086 (1:158355094 C>A,T), RS1005301471 (1:158352768 AG>A), RS1005510909 (1:158357673 C>T), RS1005575666 (1:158355908 A>C,G), RS1005744246 (1:158352565 G>A,C,T), RS1007291951 (1:158354897 T>C)

Disease associations

OMIM: gene MIM:188411 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): primary amenorrhea (MONDO:1060208)

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST003598_53	QRS duration	1.000000e-06
GCST003598_54	QRS duration	8.000000e-09

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

8 total (human), top 8 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment, decreases expression	1
abrine	increases expression	1
Air Pollutants	increases abundance, increases expression	1
Endosulfan	decreases expression	1
Lipopolysaccharides	affects cotreatment, decreases expression, affects response to substance, increases expression	1
Nickel	increases expression	1
Ozone	increases abundance, increases expression	1
Valproic Acid	decreases methylation	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT07164248	Not specified	COMPLETED	Evaluation of Bone Mineral Density Indications and Outcomes in Female Adolescents: Implications for Early Detection of Osteopenia/Osteoporosis and Gynecologic Practice