CRTAM

Summary

CRTAM (cytotoxic and regulatory T cell molecule, HGNC:24313) is a protein-coding gene on chromosome 11q24.1, encoding Cytotoxic and regulatory T-cell molecule (O95727). Mediates heterophilic cell-cell adhesion which regulates the activation, differentiation and tissue retention of various T-cell subsets.

The CRTAM gene is upregulated in CD4 (see MIM 186940)-positive and CD8 (see CD8A; MIM 186910)-positive T cells and encodes a type I transmembrane protein with V and C1-like Ig domains (Yeh et al., 2008 [PubMed 18329370]).

Source: NCBI Gene 56253 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 72 total
• MANE Select transcript: NM_019604

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24313
Approved symbol	CRTAM
Name	cytotoxic and regulatory T cell molecule
Location	11q24.1
Locus type	gene with protein product
Status	Approved
Aliases	CD355
Ensembl gene	ENSG00000109943
Ensembl biotype	protein_coding
OMIM	612597
Entrez	56253

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 3 protein_coding, 1 retained_intron

ENST00000227348, ENST00000533416, ENST00000533709, ENST00000910133

RefSeq mRNA: 2 — MANE Select: NM_019604 NM_001304782, NM_019604

CCDS: CCDS76489, CCDS8437

Canonical transcript exons

ENST00000227348 — 10 exons

Exon	Start	End
ENSE00000748980	122864636	122864719
ENSE00001101323	122862464	122862544
ENSE00001101325	122851693	122851845
ENSE00001101328	122853943	122854086
ENSE00001101329	122838500	122838592
ENSE00001101331	122850068	122850214
ENSE00001101337	122855695	122855856
ENSE00002193077	122871269	122872643
ENSE00003518318	122868013	122868099
ENSE00003529583	122867409	122867555

Expression profiles

Bgee: expression breadth ubiquitous, 167 present calls, max score 98.62.

FANTOM5 (CAGE): breadth broad, TPM avg 4.8020 / max 1022.5581, expressed in 283 samples.

FANTOM5 promoters (10 alternative TSS)

Promoter ID	TPM avg	Samples expressed
117263	2.4101	195
117257	0.8270	85
117262	0.8090	11
117259	0.1977	9
117265	0.1685	57
117261	0.1612	7
117264	0.1050	41
117258	0.0661	24
206481	0.0342	14
117260	0.0232	4

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cerebellar vermis	UBERON:0004720	98.62	gold quality
cerebellar cortex	UBERON:0002129	96.44	gold quality
cerebellum	UBERON:0002037	96.43	gold quality
cerebellar hemisphere	UBERON:0002245	96.37	gold quality
right hemisphere of cerebellum	UBERON:0014890	94.56	gold quality
paraflocculus	UBERON:0005351	93.71	gold quality
pons	UBERON:0000988	87.52	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	81.69	gold quality
monocyte	CL:0000576	80.86	gold quality
leukocyte	CL:0000738	80.62	gold quality
mononuclear cell	CL:0000842	80.54	gold quality
granulocyte	CL:0000094	78.33	gold quality
lymph node	UBERON:0000029	76.28	gold quality
blood	UBERON:0000178	74.24	gold quality
spleen	UBERON:0002106	67.41	gold quality
vermiform appendix	UBERON:0001154	66.70	gold quality
gall bladder	UBERON:0002110	65.57	gold quality
lower lobe of lung	UBERON:0008949	64.34	gold quality
adult organism	UBERON:0007023	63.03	gold quality
amniotic fluid	UBERON:0000173	62.78	gold quality
visceral pleura	UBERON:0002401	62.62	silver quality
caecum	UBERON:0001153	62.44	gold quality
jejunal mucosa	UBERON:0000399	61.66	gold quality
bone marrow	UBERON:0002371	61.56	gold quality
pleura	UBERON:0000977	61.53	silver quality
upper lobe of lung	UBERON:0008948	61.39	gold quality
right lung	UBERON:0002167	61.28	gold quality
upper lobe of left lung	UBERON:0008952	61.20	gold quality
parietal pleura	UBERON:0002400	60.93	silver quality
palpebral conjunctiva	UBERON:0001812	60.37	silver quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-HCAD-29	yes	2789.10
E-GEOD-70580	yes	338.53
E-CURD-122	yes	22.01
E-CURD-46	yes	13.74
E-ANND-3	yes	9.94

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

51 targeting CRTAM, 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-4500	99.99	72.72	2367
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-33A-5P	99.99	68.62	1055
HSA-MIR-33B-5P	99.99	68.58	1062
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-MIR-507	99.97	70.11	1915
HSA-MIR-557	99.96	70.01	1640
HSA-LET-7D-5P	99.96	71.76	1632
HSA-MIR-4458	99.96	71.64	1650
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-6508-5P	99.92	70.67	2465
HSA-MIR-129-5P	99.88	70.26	3273
HSA-MIR-8067	99.86	69.59	2260
HSA-MIR-944	99.82	70.85	3042
HSA-MIR-3680-3P	99.75	72.51	3095
HSA-MIR-3660	99.68	67.33	1149
HSA-MIR-4526	99.68	67.07	1136
HSA-MIR-545-5P	99.66	70.18	2308
HSA-MIR-21-5P	99.46	70.54	1035
HSA-MIR-4999-5P	99.35	69.15	926
HSA-MIR-584-3P	99.35	67.69	1082

Literature-anchored findings (GeneRIF, showing 13)

• Necl2/CRTAM molecular pair could regulate a large panel of cell/cell interactions both within and outside of the immune system (PMID:15781451)
• NK cells and T8 cells recognize Necl-2 through CRTAM, expressed only on activated cells. CRTAM-Necl-2 interactions promote cytotoxicity of NK cells and IFN-gamma secretion of T8 cells as well as NK cell-mediated rejection of tumors expressing Necl-2 (PMID:15811952)
• CRTAM expression is driven by the JNK-AP-1 signaling pathway. (PMID:19695707)
• Results show that CRTAM is a molecule involved in epithelial cell adhesion. (PMID:20556794)
• Three common variants in the class I MHC-restricted T cell-associated molecule gene were identified that were associated with an increased rate of asthma exacerbations based on the presence of a low circulating vitamin D level. (PMID:22051697)
• The expression of CRTAM in activated Vgamma9Vdelta2 T cells is quickly downregulated following interaction with Necl-2 on tumor cells. (PMID:23530148)
• Case-control studies reveal malignant mesothelioma risk associated with variants in the SDK1, CRTAM and RASGRF2 genes. (PMID:23827383)
• The cell adhesion molecule Necl-2 competitively binds the immune receptor CRTAM. (PMID:23871486)
• CRTAM is negatively regulated by ZEB1 in T cells. (PMID:25910959)
• These results reveal that CRTAM is critical to instruct the differentiation of CD4(+)CTL through the induction of Eomes and CTL-related gene. (PMID:26694968)
• The findings suggest, for the first time, that the tumor microenvironment in acute lymphoblastic leukemia directly contribute to exhaustion of NK cell functions by the CRTAM/Necl-2 interaction, and that the potential regulatory role of exhausted-like NK cells may favor malignant progression at the expense of anti-tumor responses. (PMID:30791148)
• Prokaryotic Expression of the Immunoglobulin’s Domains of CRTAM to Characterize a Monoclonal Antibody. (PMID:32300914)
• CRTAM promotes antitumor immune response in triple negative breast cancer by enhancing CD8+ T cell infiltration. (PMID:38354509)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio		ENSDARG00000089327
mus_musculus	Crtam	ENSMUSG00000032021
rattus_norvegicus	Crtam	ENSRNOG00000008153
drosophila_melanogaster	Fas3	FBGN0000636

Paralogs (14): PVR (ENSG00000073008), CD200 (ENSG00000091972), CADM4 (ENSG00000105767), NECTIN1 (ENSG00000110400), NECTIN2 (ENSG00000130202), NECTIN4 (ENSG00000143217), CD226 (ENSG00000150637), CADM3 (ENSG00000162706), SMAGP (ENSG00000170545), CADM2 (ENSG00000175161), NECTIN3 (ENSG00000177707), TIGIT (ENSG00000181847), CADM1 (ENSG00000182985), NCR3 (ENSG00000204475)

Protein

Protein identifiers

Cytotoxic and regulatory T-cell molecule — O95727 (reviewed: O95727)

Alternative names: Class-I MHC-restricted T-cell-associated molecule

All UniProt accessions (1): O95727

UniProt curated annotations — full annotation on UniProt →

Function. Mediates heterophilic cell-cell adhesion which regulates the activation, differentiation and tissue retention of various T-cell subsets. Interaction with CADM1 promotes natural killer (NK) cell cytotoxicity and IFNG/interferon-gamma secretion by CD8+ T-cells in vitro as well as NK cell-mediated rejection of tumors expressing CADM1 in vivo. Regulates CD8+ T-cell proliferation in response to T-cell receptor (TCR) activation. Appears to be dispensable for CD8+ T-cell-mediated cytotoxicity. Interaction with SCRIB promotes the late phase of cellular polarization of a subset of CD4+ T-cells, which in turn regulates TCR-mediated proliferation and IFNG, IL17 and IL22 production. By interacting with CADM1 on CD8+ dendritic cells, regulates the retention of activated CD8+ T-cells within the draining lymph node. Required for the intestinal retention of intraepithelial CD4+ CD8+ T-cells and, to a lesser extent, intraepithelial and lamina propria CD8+ T-cells and CD4+ T-cells. Interaction with CADM1 promotes the adhesion to gut-associated CD103+ dendritic cells, which may facilitate the expression of gut-homing and adhesion molecules on T-cells and the conversion of CD4+ T-cells into CD4+ CD8+ T-cells.

Subunit / interactions. Monomer. May form homodimer (via Ig-like V-type domain). Interacts (via Ig-like V-type domain) with CADM1 (via Ig-like V-type domain); the interaction competes with CRTAM homodimerization and CADM1 homodimerization. Interacts (via PDZ-binding motif) with SCRIB (via PDZ domain 3); the interaction promotes CRTAM and SCRIB polarization in a subset of CD4+ T-cells.

Subcellular location. Cell membrane.

Tissue specificity. In the immune system, expression is restricted to activated class-I MHC-restricted cells, including NKT and CD8 T-cells. Strongly expressed in spleen, thymus, small intestine, peripheral blood leukocyte, and in Purkinje neurons in cerebellum. Expressed at much lower levels in testis, ovary, colon, lung and lymphoid tissues.

Domain organisation. The extracellular domain is required for the regulation of IFNG and IL22 production, but is dispensable for late T-cell polarization.

Similarity. Belongs to the nectin family.

Isoforms (2)

UniProt ID	Names	Canonical?
O95727-1	1	yes
O95727-2	2

RefSeq proteins (2): NP_001291711, NP_062550* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003599	Ig_sub	Domain
IPR007110	Ig-like_dom	Domain
IPR013106	Ig_V-set	Domain
IPR013162	CD80_C2-set	Domain
IPR013783	Ig-like_fold	Homologous_superfamily
IPR036179	Ig-like_dom_sf	Homologous_superfamily
IPR053096	CRTAM	Family

Pfam: PF07686, PF08205

UniProt features (42 total): strand 7, compositionally biased region 5, sequence variant 5, mutagenesis site 4, glycosylation site 3, region of interest 3, disulfide bond 2, topological domain 2, splice variant 2, sequence conflict 2, domain 2, signal peptide 1, chain 1, short sequence motif 1, transmembrane region 1, helix 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
4H5S	X-RAY DIFFRACTION	1.7
3RBG	X-RAY DIFFRACTION	2.3

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O95727-F1	73.55	0.46

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 (2): 38–98, 141–196

Glycosylation sites (3): 21, 87, 178

Mutagenesis-validated functional residues (4):

Position	Phenotype
56	reduced binding to cadm1. severely impairs interaction with cadm1; when associated with a-57, a-67 and a-101.
57	reduced binding to cadm1. severely impairs interaction with cadm1; when associated with a-56, a-67 and a-101.
67	reduced binding to cadm1. severely impairs interaction with cadm1; when associated with a-56, a-57 and a-101.
101	reduced binding to cadm1. severely impairs interaction with cadm1; when associated with a-56, a-57 and a-67.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-198933	Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell

MSigDB gene sets: 282 (showing top): GOBP_REGULATION_OF_CELL_ACTIVATION, GOBP_REGULATION_OF_LEUKOCYTE_PROLIFERATION, GOBP_HETEROPHILIC_CELL_CELL_ADHESION, GOBP_REGULATION_OF_ALPHA_BETA_T_CELL_ACTIVATION, GOBP_ESTABLISHMENT_OR_MAINTENANCE_OF_CELL_POLARITY, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, GOBP_NEGATIVE_REGULATION_OF_LEUKOCYTE_PROLIFERATION, GOBP_NEGATIVE_REGULATION_OF_CELL_CELL_ADHESION, GOBP_LEUKOCYTE_MEDIATED_CYTOTOXICITY, AREB6_01, GOBP_POSITIVE_REGULATION_OF_CYTOKINE_PRODUCTION, TGACCTY_ERR1_Q2, GOBP_LEUKOCYTE_MEDIATED_IMMUNITY, GOBP_CELL_CELL_ADHESION, GOBP_POSITIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS

GO Biological Process (17): establishment of T cell polarity (GO:0001768), positive regulation of cytokine production (GO:0001819), adaptive immune response (GO:0002250), detection of tumor cell (GO:0002355), positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860), heterophilic cell-cell adhesion (GO:0007157), cell recognition (GO:0008037), positive regulation of type II interferon production (GO:0032729), regulation of T cell differentiation (GO:0045580), positive regulation of natural killer cell mediated cytotoxicity (GO:0045954), negative regulation of activated T cell proliferation (GO:0046007), regulation of T cell activation (GO:0050863), detection of stimulus (GO:0051606), lymphocyte migration into lymphoid organs (GO:0097021), regulation of CD8-positive, alpha-beta T cell activation (GO:2001185), immune system process (GO:0002376), cell adhesion (GO:0007155)

GO Molecular Function (3): signaling receptor binding (GO:0005102), identical protein binding (GO:0042802), protein binding (GO:0005515)

GO Cellular Component (3): immunological synapse (GO:0001772), plasma membrane (GO:0005886), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Adaptive Immune System	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
T cell activation	2
cellular process	2
protein binding	2
cellular anatomical structure	2
establishment of lymphocyte polarity	1
cytokine production	1
regulation of cytokine production	1
positive regulation of gene expression	1
positive regulation of multicellular organismal process	1
immune response	1
response to tumor cell	1
detection of biotic stimulus	1
natural killer cell mediated cytotoxicity directed against tumor cell target	1
positive regulation of natural killer cell mediated immune response to tumor cell	1
regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	1
positive regulation of natural killer cell mediated cytotoxicity	1
cell-cell adhesion	1
positive regulation of cytokine production	1
type II interferon production	1
regulation of type II interferon production	1
T cell differentiation	1
regulation of lymphocyte differentiation	1
regulation of T cell activation	1
positive regulation of leukocyte mediated cytotoxicity	1
positive regulation of natural killer cell mediated immunity	1
natural killer cell mediated cytotoxicity	1
regulation of natural killer cell mediated cytotoxicity	1
negative regulation of T cell proliferation	1
regulation of activated T cell proliferation	1
activated T cell proliferation	1
regulation of lymphocyte activation	1
response to stimulus	1
lymphocyte migration	1
CD8-positive, alpha-beta T cell activation	1
regulation of alpha-beta T cell activation	1
biological_process	1
binding	1
plasma membrane	1
membrane	1
cell periphery	1

Protein interactions and networks

STRING

1058 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CRTAM	CADM1	Q9BY67	988
CRTAM	NECTIN1	Q15223	732
CRTAM	SCRIB	Q14160	690
CRTAM	THBD	P07204	681
CRTAM	CD8A	P01732	634
CRTAM	CD226	Q15762	616
CRTAM	CD96	P40200	585
CRTAM	IL22	Q9GZX6	575
CRTAM	KIAA1143	Q96AT1	570
CRTAM	TNFRSF9	Q07011	560
CRTAM	PVR	P15151	558
CRTAM	KLRD1	Q13241	528
CRTAM	KLRG1	Q96E93	526
CRTAM	SAMSN1	Q9NSI8	524
CRTAM	TIGIT	Q495A1	516

IntAct

3 interactions, top by confidence:

A	B	Type	Score
CRTAM	CADM1	psi-mi:“MI:0915”(physical association)	0.610
CADM1	CRTAM	psi-mi:“MI:0407”(direct interaction)	0.610

ESM2 similar proteins: A0A0R4IGV4, A0A8M2B818, A3KPA0, A5D7C3, B0JYH6, O02757, O60487, O70255, O88792, O95727, P14719, P22646, P27597, P31043, P42072, P43303, P57087, Q01638, Q08DK1, Q149L7, Q1WIM2, Q28071, Q32PI9, Q3TEW6, Q3V3F6, Q501W4, Q58EG3, Q5EAB0, Q5R804, Q5VJ70, Q66KX2, Q68FQ2, Q6AYT8, Q6DJ83, Q6UWV2, Q7TSP5, Q7Z7D3, Q8AVM3, Q8BLQ9, Q8N3J6

Diamond homologs: O95727, Q13449, Q149L7, Q1WIM1, Q1WIM2, Q1WIM3, Q62813, Q6AYP5, Q7ZXX1, Q8BLK3, Q8BLQ9, Q8N126, Q8N3J6, Q8NFZ8, Q8R464, Q8R5M8, Q98919, Q99N28, Q9BY67, A2AJ76, A4IGL7, A6NGN9, B4GKZ8, B4KPU0, F1M0Z1, O15394, O35136, P07722, P11834, P15364, P17948, P20916, P20917, P32736, P56276, P60755, P60756, P79701, Q0KL02, Q0WYX8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	47
Likely benign	4
Benign	6

Top pathogenic / likely-pathogenic (0)

SpliceAI

1202 predictions. Top by Δscore:

Variant	Effect	Δscore
11:122850066:A:AG	acceptor_gain	1.0000
11:122850067:G:GG	acceptor_gain	1.0000
11:122850067:GA:G	acceptor_gain	1.0000
11:122850067:GAGGC:G	acceptor_gain	1.0000
11:122850150:G:GT	donor_gain	1.0000
11:122851812:G:GG	donor_gain	1.0000
11:122851824:G:GT	donor_gain	1.0000
11:122854077:G:GT	donor_gain	1.0000
11:122862460:CTA:C	acceptor_loss	1.0000
11:122862462:A:AG	acceptor_gain	1.0000
11:122862462:AGTTA:A	acceptor_loss	1.0000
11:122862463:G:GA	acceptor_gain	1.0000
11:122862463:GT:G	acceptor_gain	1.0000
11:122862463:GTT:G	acceptor_gain	1.0000
11:122862463:GTTA:G	acceptor_gain	1.0000
11:122862463:GTTAC:G	acceptor_gain	1.0000
11:122862540:TACTG:T	donor_gain	1.0000
11:122862541:ACTG:A	donor_gain	1.0000
11:122862542:CTGGT:C	donor_loss	1.0000
11:122862543:TG:T	donor_gain	1.0000
11:122862543:TGGT:T	donor_loss	1.0000
11:122862544:GG:G	donor_gain	1.0000
11:122862544:GGT:G	donor_loss	1.0000
11:122862545:G:GG	donor_gain	1.0000
11:122862545:GT:G	donor_loss	1.0000
11:122862546:T:A	donor_loss	1.0000
11:122864629:A:AG	acceptor_gain	1.0000
11:122864630:C:G	acceptor_gain	1.0000
11:122864630:CTTTA:C	acceptor_gain	1.0000
11:122864631:TTTAG:T	acceptor_gain	1.0000

AlphaMissense

2568 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:122850169:T:A	W50R	0.994
11:122850169:T:C	W50R	0.994
11:122850171:G:C	W50C	0.994
11:122850171:G:T	W50C	0.994
11:122851785:T:G	Y96D	0.989
11:122851791:T:A	C98S	0.989
11:122851792:G:C	C98S	0.989
11:122854017:T:C	C141R	0.987
11:122854019:C:G	C141W	0.987
11:122854056:T:A	W154R	0.986
11:122854056:T:C	W154R	0.986
11:122855792:C:G	C196W	0.986
11:122850196:T:C	F59L	0.984
11:122850198:T:A	F59L	0.984
11:122850198:T:G	F59L	0.984
11:122851791:T:C	C98R	0.984
11:122854017:T:A	C141S	0.984
11:122854018:G:C	C141S	0.984
11:122854058:G:C	W154C	0.982
11:122854058:G:T	W154C	0.982
11:122854032:A:C	S146R	0.981
11:122854034:C:A	S146R	0.981
11:122854034:C:G	S146R	0.981
11:122855790:T:C	C196R	0.981
11:122850170:G:C	W50S	0.979
11:122855790:T:A	C196S	0.978
11:122855791:G:C	C196S	0.978
11:122851793:C:G	C98W	0.974
11:122855791:G:A	C196Y	0.974
11:122851747:T:A	I83N	0.972

dbSNP variants (sampled 300 via entrez): RS1000068747 (11:122853366 G>A), RS1000276762 (11:122864000 C>A,T), RS1000316721 (11:122870517 A>T), RS1000329491 (11:122864335 A>C,T), RS1000441076 (11:122839882 A>G), RS1000515365 (11:122871781 C>T), RS1000517833 (11:122848048 A>G,T), RS1000523448 (11:122853608 G>A), RS1000570383 (11:122848304 G>A), RS1000889148 (11:122853544 G>C), RS1000937794 (11:122872852 A>G), RS1001023176 (11:122853829 C>A,T), RS1001129862 (11:122846505 T>G), RS1001147672 (11:122866880 G>A), RS1001171611 (11:122841437 G>A)

Disease associations

OMIM: gene MIM:612597 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST004746_22	Small cell lung carcinoma	1.000000e-06
GCST006585_741	Blood protein levels	6.000000e-20

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

23 total (human), top 23 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
aristolochic acid I	increases expression	1
GSK-J4	decreases expression	1
urushiol	decreases expression	1
triphenyl phosphate	affects expression	1
benzo(e)pyrene	increases methylation	1
aflatoxin B2	increases methylation	1
monomethylpropion	increases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
2-palmitoylglycerol	increases expression	1
Arsenic	affects methylation	1
Benzo(a)pyrene	increases methylation	1
Drugs, Chinese Herbal	increases expression	1
Estradiol	affects cotreatment, decreases expression	1
Methapyrilene	increases methylation	1
Naphthoquinones	increases expression	1
Nickel	increases expression	1
Progesterone	affects cotreatment, decreases expression	1
Sodium Dodecyl Sulfate	increases expression	1
Tetradecanoylphorbol Acetate	affects cotreatment, affects expression	1
Tobacco Smoke Pollution	increases methylation	1
Zinc	affects cotreatment, affects expression	1
Antirheumatic Agents	decreases expression	1

Clinical trials (associated diseases)

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