CD1B

Summary

CD1B (CD1b molecule, HGNC:1635) is a protein-coding gene on chromosome 1q23.1, encoding T-cell surface glycoprotein CD1b (P29016). Antigen-presenting protein that binds self and non-self lipid and glycolipid antigens and presents them to T-cell receptors on natural killer T-cells.

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 to late endosomes and lysosomes via a tyrosine-based motif in the cytoplasmic tail, and requires vesicular acidification to bind lipid antigens.

Source: NCBI Gene 910 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 113 total
• MANE Select transcript: NM_001764

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1635
Approved symbol	CD1B
Name	CD1b molecule
Location	1q23.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000158485
Ensembl biotype	protein_coding
OMIM	188360
Entrez	910

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000368168, ENST00000451207, ENST00000902884

RefSeq mRNA: 1 — MANE Select: NM_001764 NM_001764

CCDS: CCDS1176

Canonical transcript exons

ENST00000368168 — 6 exons

Exon	Start	End
ENSE00001039193	158329852	158330130
ENSE00001039199	158328921	158329014
ENSE00001039201	158329370	158329648
ENSE00001039203	158330796	158331062
ENSE00001446457	158331363	158331531
ENSE00003892975	158327955	158328257

Expression profiles

Bgee: expression breadth broad, 80 present calls, max score 95.29.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 2.5808 / max 876.8960, expressed in 42 samples.

FANTOM5 promoters (21 alternative TSS)

Promoter ID	TPM avg	Samples expressed
15327	0.9365	26
15325	0.3759	15
15320	0.2439	12
15317	0.1915	8
15326	0.1879	11
15316	0.1073	8
15322	0.0989	6
15329	0.0955	6
15324	0.0720	6
15319	0.0397	8

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
thymus	UBERON:0002370	95.29	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	81.43	silver quality
diaphragm	UBERON:0001103	77.52	gold quality
mucosa of paranasal sinus	UBERON:0005030	76.64	gold quality
superficial temporal artery	UBERON:0001614	73.94	gold quality
upper leg skin	UBERON:0004262	72.80	gold quality
hair follicle	UBERON:0002073	72.09	gold quality
leukocyte	CL:0000738	65.48	gold quality
monocyte	CL:0000576	65.47	gold quality
mononuclear cell	CL:0000842	65.32	gold quality
tongue squamous epithelium	UBERON:0006919	65.14	gold quality
left ventricle myocardium	UBERON:0006566	64.90	gold quality
epithelium of nasopharynx	UBERON:0001951	64.59	gold quality
germinal epithelium of ovary	UBERON:0001304	64.21	gold quality
gluteal muscle	UBERON:0002000	62.61	gold quality
cardiac muscle of right atrium	UBERON:0003379	61.94	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	61.38	gold quality
lymph node	UBERON:0000029	61.32	gold quality
gingival epithelium	UBERON:0001949	61.27	gold quality
granulocyte	CL:0000094	61.03	gold quality
vastus lateralis	UBERON:0001379	60.98	gold quality
quadriceps femoris	UBERON:0001377	60.34	gold quality
caecum	UBERON:0001153	59.28	gold quality
cardia of stomach	UBERON:0001162	58.87	gold quality
vermiform appendix	UBERON:0001154	58.62	gold quality
gingiva	UBERON:0001828	58.41	gold quality
cerebellar vermis	UBERON:0004720	58.07	gold quality
mammalian vulva	UBERON:0000997	57.79	silver quality
ventral tegmental area	UBERON:0002691	56.94	gold quality
subthalamic nucleus	UBERON:0001906	56.92	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-ANND-5	yes	587.54
E-ANND-3	yes	4.79

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

28 targeting CD1B, 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-5692A	100.00	74.40	6850
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-8075	99.97	67.20	962
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-129-5P	99.88	70.26	3273
HSA-MIR-579-3P	99.86	71.66	3628
HSA-MIR-664B-3P	99.84	71.65	3590
HSA-MIR-4517	99.76	69.19	1867
HSA-MIR-6885-3P	99.75	70.36	3187
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-4328	99.57	71.06	4094
HSA-MIR-510-3P	99.54	70.06	2965
HSA-MIR-5007-3P	99.51	68.14	1242
HSA-MIR-582-5P	99.47	70.79	2635
HSA-MIR-6731-5P	99.28	67.42	2375
HSA-MIR-8085	99.28	67.56	2362
HSA-MIR-4784	99.15	67.41	1733
HSA-MIR-3150B-3P	98.81	67.21	1728
HSA-MIR-4656	98.79	66.22	1306
HSA-MIR-3161	98.71	67.14	816
HSA-MIR-3620-5P	97.42	63.95	792
HSA-MIR-10400-3P	97.29	64.66	597
HSA-MIR-4674	97.29	64.62	597
HSA-MIR-4714-5P	97.04	67.76	955
HSA-MIR-1587	96.95	64.03	932
HSA-MIR-635	96.00	65.54	687
HSA-MIR-6774-5P	95.94	65.18	722

Literature-anchored findings (GeneRIF, showing 35)

• Lipid length controls antigen entry into endosomal and nonendosomal pathways for CD1b presentation. (PMID:11938350)
• Failure of trafficking and antigen presentation by CD1b in AP-3-deficient cells (PMID:12049721)
• CD1b and CD1c show strong binding of nitrobenzoxadiazole (NBD)-labeled dialkyl-based ligands. (PMID:14551186)
• model proposed in which saposin C exposes lipid antigens from intralysosomal membranes for loading onto CD1b (PMID:14716313)
• Current crystal structure illustrates for the first time the binding of a natural bacterial lipid antigen to CD1b and shows how its novel structural features fit the CD1b molecule for its role in the immune response to intracellular bacteria. (PMID:14764708)
• CD1b expression was detected on monocytes in the majority of sickle cell anemia patients, and was highly expressed in Sbeta thalassemia patients. (PMID:15556687)
• Expression of DC-SIGN and CD1b in human leprosy. (PMID:15880118)
• identified CD1a-, CD1b-, and CD1c-restricted T cells from normal human donors that induce cytolysis and secrete copious IFN-gamma in response to self-CD1 expressed on monocyte-derived dendritic cells (PMID:16272286)
• Endosomal acidification acts directly, rather than through enzymatic trimming, to insert lipids into CD1b. (PMID:16794581)
• The data presented herein explain how the CD1b groove is preserved, and provide a rationale for the in vivo antigen-binding properties of CD1b. (PMID:16874306)
• HCMV encodes multiple blocking strategies targeting group 1 CD1 molecules CD1a, CD1b, and CD1c (PMID:18287231)
• monocyte-derived DCs cultured in an immunoglobulin-rich milieu expressed CD1d but not CD1a, CD1b, and CD1c, whereas DCs cultured in the presence of low levels of immunoglobulins had an opposite CD1 profile (PMID:18337560)
• study proposes that ionic tethers act as molecular switches that respond to pH fluxes during endosomal recycling and regulate the conformation of the CD1 heavy chain to control the size and rate of antigens captured (PMID:18538591)
• Microsomal triglyceride transfer protein regulates endogenous and exogenous antigen presentation by group 1 CD1 molecules. (PMID:18624350)
• The crystal structure of an avian CD1 (chCD1-2) that shares common ancestry with mammalian CD1 from approximately 310 million years ago, was determined. (PMID:19004781)
• mycobacterial lipids structural constraints governing binding to CD1b and generation of antigenic CD1b:lipid (PMID:19454700)
• Group 1 CD1-restricted T cells participate in adaptive immune responses upon mycobacterial infection. (PMID:19808251)
• gammadelta T cells recognize lipid A (LA) in a CD1b- or CD1c-restricted manner in first response against Gram-bacteria, while the interaction between TLR4 on gammadelta T cells and LA might strengthen the subsequent response of gammadelta T cells. (PMID:19948070)
• The DC-SIGNlow/CD86high population is characterized by a reduced CD1b expression that correlates with a reduced iMtb-specific lymphocyte proliferation together with an enhanced mixed leukocyte reaction. (PMID:20212510)
• a cognate mechanism whereby CD1b-glycolipid complexes bind to TCRs. (PMID:21807869)
• CD1b has a mechanism for presenting either two small or one large lipid, allowing presentation of antigens with an unusually broad range of chain lengths. (PMID:22087000)
• Deciphering the role of CD1e protein in mycobacterial phosphatidyl-myo-inositol mannosides (PIM) processing for presentation by CD1b to T lymphocytes (PMID:22782895)
• Molecular mechanisms by which CD1b captures distinct classes of self- and mycobacterial antigens are reviewed. Review. (PMID:23468110)
• 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)
• Dysregulated CD1 profile in myeloid dendritic cells in CVID is normalized by IVIg treatment. (PMID:23766460)
• [review] Humans express both Group 1 (CD1a, CD1b and CD1c) and Group 2 (CD1d) CD1 molecules with nonredundant functions in response to the presentation of endogenous lipids. (PMID:24556395)
• the development of polyvalent complexes of CD1b proteins and carbohydrate backbones (dextramers) and their use in identifying CD1b autoreactive T cells from human donors. (PMID:26621732)
• polyclonal germline-encoded mycolyl lipid-reactive T cell receptors that recognize CD1b-glucose-6-O-monomycolate use relatively conserved molecular mechanisms (PMID:27807341)
• Sulfoglycolipids (SGLs) are uniquely synthesized by Mycobacterium tuberculosis. This study designed a novel hybrid synthesis of a naturally occurring SGL, generated CD1b tetramers loaded with natural or synthetic SGL analogs, and studied the molecular requirements for T cell receptor binding and T cell activation. (PMID:29398561)
• this study provides evidence for cross-reactive CD1b-restricted T cell responses to bacterial and self-antigens, and identifies chemically defined targets for future discovery of self and foreign antigen cross-reactive T cells. (PMID:30854633)
• The miR-582/CD1B Axis Is Involved in Regulation of Dendritic Cells and Is Associated with Clinical Outcomes in Advanced Lung Adenocarcinoma. (PMID:32258122)
• Animal models for human group 1 CD1 protein function. (PMID:33384157)
• Synthetic mycobacterial diacyl trehaloses reveal differential recognition by human T cell receptors and the C-type lectin Mincle. (PMID:33479373)
• CD4 and CD8 co-receptors modulate functional avidity of CD1b-restricted T cells. (PMID:35013257)
• CD1 molecules: Beyond antigen presentation. (PMID:38579449)

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), CD1E (ENSG00000158488), 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 CD1b — P29016 (reviewed: P29016)

All UniProt accessions (2): P29016, H7C0I2

UniProt curated annotations — full annotation on UniProt →

Function. Antigen-presenting protein that binds self and non-self lipid and glycolipid antigens and presents them to T-cell receptors on natural killer T-cells.

Subunit / interactions. Heterodimer with B2M (beta-2-microglobulin). Interacts with saposin C.

Subcellular location. Cell membrane. Endosome membrane. Lysosome membrane.

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

Miscellaneous. During protein synthesis and maturation, CD1 family members bind endogenous lipids that are replaced by lipid or glycolipid antigens when the proteins are internalized and pass through endosomes or lysosomes, before trafficking back to the cell surface. Interaction with saposin C is required for the loading of bacterial lipid antigens onto CD1B in the lysosome.

Isoforms (2)

UniProt ID	Names	Canonical?
P29016-1	1	yes
P29016-2	2

RefSeq proteins (1): NP_001755* (*=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 (45 total): strand 17, helix 8, glycosylation site 4, turn 4, disulfide bond 3, topological domain 2, signal peptide 1, chain 1, splice variant 1, mutagenesis site 1, transmembrane region 1, domain 1, short sequence motif 1

Structure

Experimental structures (PDB)

28 structures.

PDB	Method	Resolution (Å)
5WL1	X-RAY DIFFRACTION	1.38
8GLG	X-RAY DIFFRACTION	1.6
5L2J	X-RAY DIFFRACTION	1.65
5WKE	X-RAY DIFFRACTION	1.69
6D64	X-RAY DIFFRACTION	1.7
7MX4	X-RAY DIFFRACTION	1.73
2H26	X-RAY DIFFRACTION	1.8
8GLH	X-RAY DIFFRACTION	1.83
9OI0	X-RAY DIFFRACTION	1.84
8GLE	X-RAY DIFFRACTION	1.85
3T8X	X-RAY DIFFRACTION	1.9
8DV3	X-RAY DIFFRACTION	1.9
7MXF	X-RAY DIFFRACTION	2
8GLF	X-RAY DIFFRACTION	2
5WKG	X-RAY DIFFRACTION	2.06
8GLI	X-RAY DIFFRACTION	2.1
7MXH	X-RAY DIFFRACTION	2.11
1GZQ	X-RAY DIFFRACTION	2.26
5C9J	X-RAY DIFFRACTION	2.4
6CUG	X-RAY DIFFRACTION	2.4
8DV4	X-RAY DIFFRACTION	2.4
3OV6	X-RAY DIFFRACTION	2.5
4ONO	X-RAY DIFFRACTION	2.71
5WKI	X-RAY DIFFRACTION	2.75
1GZP	X-RAY DIFFRACTION	2.8
1UQS	X-RAY DIFFRACTION	3.1
8ZOX	ELECTRON MICROSCOPY	3.18
5L2K	X-RAY DIFFRACTION	3.2

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P29016-F1	91.00	0.83

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 (3): 120–184, 149–163, 224–279

Glycosylation sites (4): 258, 38, 75, 146

Mutagenesis-validated functional residues (1):

Position	Phenotype
329–330	strongly reduced internalization and trafficking to endosomes.

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-198933	Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
R-HSA-1280218	Adaptive Immune System
R-HSA-168256	Immune System

MSigDB gene sets: 138 (showing top): GOBP_POSITIVE_REGULATION_OF_ADAPTIVE_IMMUNE_RESPONSE, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, GOCC_VACUOLAR_MEMBRANE, 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, GRANDVAUX_IRF3_TARGETS_DN, PUJANA_CHEK2_PCC_NETWORK, 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

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), protein binding (GO:0005515)

GO Cellular Component (12): obsolete extracellular space (GO:0005615), lysosomal membrane (GO:0005765), Golgi apparatus (GO:0005794), cytosol (GO:0005829), plasma membrane (GO:0005886), external side of plasma membrane (GO:0009897), cell surface (GO:0009986), endosome membrane (GO:0010008), membrane (GO:0016020), lysosome (GO:0005764), endosome (GO:0005768), endomembrane system (GO:0012505)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Adaptive Immune System	1
Immune System	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
antigen processing and presentation of lipid antigen via MHC class Ib	2
lipid antigen binding	2
cytoplasm	2
endomembrane system	2
plasma membrane	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
lysosome	1
lytic vacuole membrane	1
intracellular membrane-bounded organelle	1
membrane	1
cell periphery	1
cell surface	1
side of membrane	1
endosome	1
cytoplasmic vesicle membrane	1
bounding membrane of organelle	1
lytic vacuole	1
cytoplasmic vesicle	1
vacuole	1

Protein interactions and networks

STRING

1770 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CD1B	CD83	Q01151	959
CD1B	B2M	P01884	924
CD1B	CD207	Q9UJ71	923
CD1B	CD68	P34810	898
CD1B	IL10	P22301	850
CD1B	CD4	P01730	848
CD1B	CD8A	P01732	806
CD1B	CD86	P42081	792
CD1B	CD80	P33681	788
CD1B	CD5	P06127	769
CD1B	CD40LG	P29965	767
CD1B	IFNG	P01579	757
CD1B	MME	P08473	741
CD1B	CSF2	P04141	732
CD1B	CD34	P28906	724

IntAct

8 interactions, top by confidence:

A	B	Type	Score
B2M	CD1B	psi-mi:“MI:0407”(direct interaction)	0.780
CD1B	B2M	psi-mi:“MI:0407”(direct interaction)	0.780
CD1B	TOR1B	psi-mi:“MI:0914”(association)	0.530
ALPK1	CD1B	psi-mi:“MI:0915”(physical association)	0.400
CD1B	SMPD2	psi-mi:“MI:0914”(association)	0.350

BioGRID (139): CNTNAP3B (Affinity Capture-MS), NRSN2 (Affinity Capture-MS), HLA-A (Affinity Capture-MS), LRP11 (Affinity Capture-MS), CPD (Affinity Capture-MS), PCYOX1L (Affinity Capture-MS), USP22 (Affinity Capture-MS), ITPRIP (Affinity Capture-MS), TOR1B (Affinity Capture-MS), ULBP3 (Affinity Capture-MS), MR1 (Affinity Capture-MS), GHITM (Affinity Capture-MS), ATP2B3 (Affinity Capture-MS), QSOX2 (Affinity Capture-MS), ADAM9 (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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	83
Likely benign	15
Benign	6

Top pathogenic / likely-pathogenic (0)

SpliceAI

634 predictions. Top by Δscore:

Variant	Effect	Δscore
1:158329368:A:AC	donor_gain	0.9900
1:158329368:ACT:A	donor_gain	0.9900
1:158329369:C:CC	donor_gain	0.9900
1:158329369:CTC:C	donor_gain	0.9900
1:158331357:TCTTA:T	donor_loss	0.9900
1:158331358:CTTAC:C	donor_loss	0.9900
1:158331359:TTACC:T	donor_loss	0.9900
1:158331360:TACCA:T	donor_loss	0.9900
1:158331361:A:C	donor_loss	0.9900
1:158329369:CT:C	donor_gain	0.9800
1:158329371:C:CA	donor_gain	0.9800
1:158331356:CTCTT:C	donor_loss	0.9800
1:158331361:A:AC	donor_gain	0.9800
1:158331362:C:CC	donor_gain	0.9800
1:158331371:CTG:C	donor_gain	0.9800
1:158331372:TGT:T	donor_gain	0.9800
1:158331377:C:CT	donor_gain	0.9800
1:158329332:T:TA	donor_gain	0.9700
1:158329649:C:CC	acceptor_gain	0.9700
1:158331447:A:AC	donor_gain	0.9700
1:158331448:C:CC	donor_gain	0.9700
1:158329508:G:C	donor_gain	0.9600
1:158330133:A:C	acceptor_gain	0.9600
1:158330794:A:AC	donor_gain	0.9600
1:158330795:C:CC	donor_gain	0.9600
1:158331378:C:CT	donor_gain	0.9600
1:158329847:CTAA:C	donor_loss	0.9500
1:158329848:TAA:T	donor_loss	0.9500
1:158329849:AAC:A	donor_loss	0.9500
1:158329850:A:AG	donor_loss	0.9500

AlphaMissense

2153 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:158329569:G:C	F229L	0.991
1:158329569:G:T	F229L	0.991
1:158329571:A:G	F229L	0.991
1:158329542:C:A	W238C	0.982
1:158329542:C:G	W238C	0.982
1:158329585:C:G	C224S	0.974
1:158329586:A:T	C224S	0.974
1:158329586:A:G	C224R	0.964
1:158329544:A:G	W238R	0.963
1:158329544:A:T	W238R	0.963
1:158329407:G:C	H283Q	0.959
1:158329407:G:T	H283Q	0.959
1:158329420:C:G	C279S	0.958
1:158329421:A:T	C279S	0.958
1:158330913:A:G	W71R	0.958
1:158330913:A:T	W71R	0.958
1:158329570:A:G	F229S	0.957
1:158329584:G:C	C224W	0.957
1:158331016:A:C	F36L	0.956
1:158331016:A:T	F36L	0.956
1:158331018:A:G	F36L	0.956
1:158329401:A:C	S285R	0.955
1:158329401:A:T	S285R	0.955
1:158329403:T:G	S285R	0.955
1:158329585:C:T	C224Y	0.955
1:158330911:C:A	W71C	0.952
1:158330911:C:G	W71C	0.952
1:158329570:A:C	F229C	0.951
1:158329642:G:T	P205H	0.946
1:158330100:C:G	C120S	0.944

dbSNP variants (sampled 300 via entrez): RS1000018316 (1:158332576 T>C), RS1000025086 (1:158300913 C>A,G), RS1000087849 (1:158316170 A>G,T), RS1000129912 (1:158327758 C>T), RS1000198869 (1:158304716 G>A), RS1000265929 (1:158325957 A>G), RS1000363034 (1:158323325 A>G), RS1000383310 (1:158309251 T>A), RS1000414625 (1:158309406 T>C), RS1000424443 (1:158305207 G>C,T), RS1000457917 (1:158327052 C>T), RS1000476120 (1:158332800 C>A), RS1000573993 (1:158326092 C>T), RS1000623573 (1:158301919 C>A), RS1000694274 (1:158306161 C>T)

Disease associations

OMIM: gene MIM:188360 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

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
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment, decreases expression	1
Allergens	affects cotreatment, increases abundance, increases expression	1
Arsenic	affects methylation	1
Vehicle Emissions	affects cotreatment, increases abundance, increases expression	1
Benzene	increases expression	1
Lipopolysaccharides	increases expression, affects cotreatment, decreases expression, affects response to substance	1
Methotrexate	decreases expression	1
Nickel	increases expression	1
Antirheumatic Agents	decreases expression	1
Particulate Matter	increases expression, affects cotreatment, increases abundance	1

Clinical trials (associated diseases)

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