CD53

Summary

CD53 (CD53 molecule, HGNC:1686) is a protein-coding gene on chromosome 1p13.3, encoding Leukocyte surface antigen CD53 (P19397). Structural component of specialized membrane microdomains known as tetraspanin-enriched microdomains (TERMs), which act as platforms for receptor clustering and signaling.

The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins. It contributes to the transduction of CD2-generated signals in T cells and natural killer cells and has been suggested to play a role in growth regulation. Familial deficiency of this gene has been linked to an immunodeficiency associated with recurrent infectious diseases caused by bacteria, fungi and viruses. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 963 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 34 total
• MANE Select transcript: NM_000560

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1686
Approved symbol	CD53
Name	CD53 molecule
Location	1p13.3
Locus type	gene with protein product
Status	Approved
Aliases	TSPAN25
Ensembl gene	ENSG00000143119
Ensembl biotype	protein_coding
OMIM	151525
Entrez	963

Gene structure

Transcript identifiers

Ensembl transcripts: 24 — 20 protein_coding, 4 protein_coding_CDS_not_defined

ENST00000271324, ENST00000464329, ENST00000471220, ENST00000476408, ENST00000497404, ENST00000648608, ENST00000897406, ENST00000897407, ENST00000897408, ENST00000897409, ENST00000897410, ENST00000897411, ENST00000897412, ENST00000897413, ENST00000897414, ENST00000897415, ENST00000897416, ENST00000897417, ENST00000897418, ENST00000897419, ENST00000897420, ENST00000922910, ENST00000922911, ENST00000922912

RefSeq mRNA: 3 — MANE Select: NM_000560 NM_000560, NM_001040033, NM_001320638

CCDS: CCDS829

Canonical transcript exons

ENST00000271324 — 8 exons

Exon	Start	End
ENSE00000958193	110897809	110897892
ENSE00001933244	110873148	110873248
ENSE00003568180	110894960	110895055
ENSE00003568424	110892345	110892533
ENSE00003625024	110894327	110894401
ENSE00003639112	110891392	110891471
ENSE00003684533	110896653	110896733
ENSE00004028294	110899124	110899922

Expression profiles

Bgee: expression breadth ubiquitous, 280 present calls, max score 99.57.

FANTOM5 (CAGE): breadth broad, TPM avg 101.9476 / max 3153.7797, expressed in 661 samples.

FANTOM5 promoters (10 alternative TSS)

Promoter ID	TPM avg	Samples expressed
4581	80.3215	623
4582	13.4259	558
4578	2.8520	118
4583	1.9732	383
4580	1.9021	367
4579	0.9599	173
4590	0.1685	93
4589	0.1407	56
4584	0.1077	63
4588	0.0962	48

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
granulocyte	CL:0000094	99.57	gold quality
blood	UBERON:0000178	99.57	gold quality
leukocyte	CL:0000738	99.49	gold quality
monocyte	CL:0000576	99.48	gold quality
mononuclear cell	CL:0000842	99.48	gold quality
spleen	UBERON:0002106	99.36	gold quality
vermiform appendix	UBERON:0001154	99.28	gold quality
lymph node	UBERON:0000029	98.97	gold quality
bone marrow	UBERON:0002371	98.77	gold quality
bone marrow cell	CL:0002092	98.66	gold quality
epithelium of nasopharynx	UBERON:0001951	98.31	gold quality
nasopharynx	UBERON:0001728	98.30	gold quality
caecum	UBERON:0001153	98.23	gold quality
right lung	UBERON:0002167	98.11	gold quality
upper lobe of left lung	UBERON:0008952	97.60	gold quality
trabecular bone tissue	UBERON:0002483	97.51	gold quality
upper lobe of lung	UBERON:0008948	97.43	gold quality
bone element	UBERON:0001474	97.41	gold quality
thymus	UBERON:0002370	97.36	gold quality
gall bladder	UBERON:0002110	97.23	gold quality
lower lobe of lung	UBERON:0008949	96.79	gold quality
periodontal ligament	UBERON:0008266	96.76	gold quality
rectum	UBERON:0001052	96.75	gold quality
small intestine Peyer’s patch	UBERON:0003454	96.16	gold quality
lung	UBERON:0002048	95.61	gold quality
decidua	UBERON:0002450	95.04	gold quality
omental fat pad	UBERON:0010414	94.89	gold quality
peritoneum	UBERON:0002358	94.86	gold quality
right coronary artery	UBERON:0001625	94.46	gold quality
small intestine	UBERON:0002108	94.39	gold quality

Single-cell (SCXA)

Detected in 22 experiment(s), a significant marker in 18.

Experiment	Marker?	Max mean expression
E-GEOD-75688	yes	790.80
E-HCAD-1	yes	114.08
E-MTAB-6701	yes	96.07
E-MTAB-8142	yes	80.85
E-GEOD-135922	yes	45.42
E-GEOD-84465	yes	43.04
E-MTAB-8410	yes	38.70
E-MTAB-10287	yes	37.77
E-GEOD-134144	yes	32.13
E-HCAD-10	yes	24.37
E-HCAD-9	yes	19.84
E-CURD-112	yes	18.65
E-HCAD-11	yes	17.11
E-MTAB-10042	yes	13.16
E-GEOD-137537	yes	5.40

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): ETS1, SPI1

miRNA regulators (miRDB)

37 targeting CD53, 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-4531	99.99	69.70	3181
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-3617-3P	99.98	67.86	918
HSA-MIR-6515-3P	99.82	68.19	1933
HSA-MIR-1299	99.77	71.24	2389
HSA-MIR-6763-5P	99.76	64.68	1767
HSA-MIR-3150A-3P	99.76	64.44	1640
HSA-MIR-3680-3P	99.75	72.51	3095
HSA-MIR-6762-3P	99.66	66.94	1188
HSA-MIR-4516	99.61	67.78	3390
HSA-MIR-7106-5P	99.53	67.47	3574
HSA-MIR-203A-3P	99.49	70.56	2806
HSA-MIR-12131	99.48	68.72	1673
HSA-MIR-4311	99.31	70.47	3041
HSA-MIR-5690	99.25	67.58	1012
HSA-MIR-3191-5P	99.24	66.52	1722
HSA-MIR-8070	99.07	69.30	1303
HSA-MIR-361-5P	98.95	70.16	1340
HSA-MIR-224-3P	98.91	68.42	1815
HSA-MIR-522-3P	98.91	68.56	1817
HSA-MIR-4709-3P	98.88	68.04	1594
HSA-MIR-374A-3P	98.87	67.82	1531
HSA-MIR-412-3P	98.86	66.89	712
HSA-MIR-6754-3P	98.84	66.60	889
HSA-MIR-3945	98.68	64.21	553
HSA-MIR-6764-3P	98.44	67.64	1153
HSA-MIR-6824-3P	98.44	67.62	1154
HSA-MIR-758-3P	98.42	68.60	1122
HSA-MIR-653-3P	98.31	67.71	1542
HSA-MIR-6882-3P	98.23	67.01	1119

Literature-anchored findings (GeneRIF, showing 10)

• Ligation of CD53 triggers a survival response and reduces the number of cells that enter apoptosis. The CD53 antigen interactions might contribute to cell survival in poorly vascularized regions of the tumor mass. (PMID:12606948)
• Analysis of lymphocyte subsets showed that the total number of CD3+, CD4+, CD8+ and CD56+ lymphocytes increased after the intensive protocol before falling below pre-exercise values at 1 h post-exercise. (PMID:16506060)
• The paradox is that lymphocytes from RA patients are believed to resist apoptosis, and we suggest that the elevated expression of CD53, which results from the increased oxidative stress, may protect against apoptosis. (PMID:17210617)
• SNP rs6679497 in gene CD53 showed significant association with TNFalpha levels (P=0.001); no association of this SNP was observed with osteoarthritis (PMID:20407468)
• CD53 is associated with population asthma risk via the functional promoter polymorphism -1560 C>T. (PMID:23313165)
• In this study, significant and lineage-dependent association of CD53 locus with Tuberculosis (TB) onset was identified from the pathogen lineage-based genome-wide association study (GWAS). (PMID:28878339)
• Eight SNPs of CD53 were found to be associated with tuberculosis case. (PMID:30506122)
• Tetraspanin CD53: an overlooked regulator of immune cell function. (PMID:32440787)
• Open conformation of tetraspanins shapes interaction partner networks on cell membranes. (PMID:32974937)
• The conformation of tetraspanins CD53 and CD81 differentially affects their nanoscale organization and interaction with their partners. (PMID:39159818)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	zgc:64051	ENSDARG00000068233
mus_musculus	Cd53	ENSMUSG00000040747
rattus_norvegicus	Cd53	ENSRNOG00000017874

Paralogs (32): TSPAN6 (ENSG00000000003), CD9 (ENSG00000010278), TSPAN9 (ENSG00000011105), TSPAN17 (ENSG00000048140), TSPAN32 (ENSG00000064201), CD82 (ENSG00000085117), TSPAN15 (ENSG00000099282), CD37 (ENSG00000104894), UPK1A (ENSG00000105668), TSPAN12 (ENSG00000106025), TSPAN13 (ENSG00000106537), TSPAN14 (ENSG00000108219), CD81 (ENSG00000110651), TSPAN11 (ENSG00000110900), PRPH2 (ENSG00000112619), UPK1B (ENSG00000114638), TSPAN1 (ENSG00000117472), TSPAN8 (ENSG00000127324), TSPAN16 (ENSG00000130167), TSPAN2 (ENSG00000134198), CD63 (ENSG00000135404), TSPAN31 (ENSG00000135452), TSPAN3 (ENSG00000140391), ROM1 (ENSG00000149489), TSPAN7 (ENSG00000156298), TSPAN18 (ENSG00000157570), TSPAN33 (ENSG00000158457), TSPAN5 (ENSG00000168785), CD151 (ENSG00000177697), TSPAN10 (ENSG00000182612), TSPAN4 (ENSG00000214063), TSPAN19 (ENSG00000231738)

Protein

Protein identifiers

Leukocyte surface antigen CD53 — P19397 (reviewed: P19397)

Alternative names: Cell surface glycoprotein CD53, Tetraspanin-25

All UniProt accessions (2): P19397, B4DQB5

UniProt curated annotations — full annotation on UniProt →

Function. Structural component of specialized membrane microdomains known as tetraspanin-enriched microdomains (TERMs), which act as platforms for receptor clustering and signaling. Participates thereby in diverse biological functions such as cell signal transduction, adhesion, migration and protein trafficking. Plays a role in the activation of monocytes and B-cells. Acts as an essential regulator of B-cell development by promoting interleukin-7 receptor/IL7R signaling. Also promotes, in B-cells, the BCR signaling by recruiting PKC to the plasma membrane in order to phosphorylate its substrates. Plays an essential role in B- and T-cells homing to lymph nodes by stabilizing L-selectin/SELL cell surface expression. Also mediates metabolic and inflammatory functions in hepatocytes and adipose tissue by promoting TNF and LPS signaling independent of the immune compartment.

Subunit / interactions. Interacts with SCIMP. Interacts with CD45/PTPRC. Interacts with IL7R. Interacts with RBL2 and PPP2CA.

Subcellular location. Cell membrane. Cell junction. Membrane. Synapse.

Tissue specificity. B-cells, monocytes, macrophages, neutrophils, single (CD4 or CD8) positive thymocytes and peripheral T-cells.

Similarity. Belongs to the tetraspanin (TM4SF) family.

RefSeq proteins (3): NP_000551, NP_001035122, NP_001307567 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000301	Tetraspanin_animals	Family
IPR008952	Tetraspanin_EC2_sf	Homologous_superfamily
IPR018499	Tetraspanin/Peripherin	Family
IPR018503	Tetraspanin_CS	Conserved_site

Pfam: PF00335

UniProt features (25 total): helix 8, topological domain 5, transmembrane region 4, glycosylation site 2, mutagenesis site 2, strand 2, chain 1, turn 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
6WVG	X-RAY DIFFRACTION	2.9

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P19397-F1	93.05	0.86

Functional residue map

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

Glycosylation sites (2): 129, 148

Mutagenesis-validated functional residues (2):

Position	Phenotype
43	about 50% loss of b-cell chemotactic activity.
44	about 50% loss of b-cell chemotactic activity.

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-6798695	Neutrophil degranulation
R-HSA-168249	Innate Immune System
R-HSA-168256	Immune System

MSigDB gene sets: 274 (showing top): RNGTGGGC_UNKNOWN, WALLACE_PROSTATE_CANCER_RACE_UP, REACTOME_INNATE_IMMUNE_SYSTEM, MCLACHLAN_DENTAL_CARIES_UP, GOCC_SECRETORY_GRANULE, XU_HGF_TARGETS_REPRESSED_BY_AKT1_DN, MODULE_45, MODULE_64, GOBP_STRIATED_MUSCLE_CELL_DIFFERENTIATION, LANG_MYB_FAMILY_TARGETS, KYNG_DNA_DAMAGE_DN, MODULE_16, WIELAND_UP_BY_HBV_INFECTION, HERNANDEZ_ABERRANT_MITOSIS_BY_DOCETACEL_4NM_UP, MODULE_118

GO Biological Process (4): signal transduction (GO:0007165), receptor clustering (GO:0043113), positive regulation of myoblast fusion (GO:1901741), T cell receptor signaling pathway (GO:0050852)

GO Molecular Function (3): identical protein binding (GO:0042802), protein-membrane adaptor activity (GO:0043495), protein binding (GO:0005515)

GO Cellular Component (9): immunological synapse (GO:0001772), plasma membrane (GO:0005886), cell-cell junction (GO:0005911), specific granule membrane (GO:0035579), synapse (GO:0045202), extracellular exosome (GO:0070062), tertiary granule membrane (GO:0070821), membrane (GO:0016020), anchoring junction (GO:0070161)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Innate Immune System	1
Immune System	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
plasma membrane	2
cellular anatomical structure	2
secretory granule membrane	2
cell junction	2
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
protein localization to membrane	1
myoblast fusion	1
positive regulation of syncytium formation by plasma membrane fusion	1
regulation of myoblast fusion	1
antigen receptor-mediated signaling pathway	1
protein binding	1
protein-macromolecule adaptor activity	1
binding	1
membrane	1
cell periphery	1
anchoring junction	1
specific granule	1
extracellular vesicle	1
tertiary granule	1

Protein interactions and networks

STRING

1792 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CD53	CD2	P06729	884
CD53	CD82	P27701	823
CD53	UPK1A	O00322	760
CD53	CD101	Q93033	719
CD53	UPK1B	O75841	714
CD53	TSPAN31	Q12999	694
CD53	LAPTM5	Q13571	668
CD53	CD37	P11049	662
CD53	ITGB2	P05107	656
CD53	TM4SF1	P30408	654
CD53	UPK3A	O75631	649
CD53	CD151	P48509	635
CD53	CD58	P19256	627
CD53	TYROBP	O43914	601
CD53	C1QB	P02746	591

IntAct

234 interactions, top by confidence:

A	B	Type	Score
CD53	GJA8	psi-mi:“MI:0915”(physical association)	0.560
AIG1	CD53	psi-mi:“MI:0915”(physical association)	0.560
SLC35A1	CD53	psi-mi:“MI:0915”(physical association)	0.560
CD53		psi-mi:“MI:0915”(physical association)	0.560
CD53	CD302	psi-mi:“MI:0915”(physical association)	0.560
CD53	PMP22	psi-mi:“MI:0915”(physical association)	0.560
CD53	TMEM60	psi-mi:“MI:0915”(physical association)	0.560
CD53	MS4A3	psi-mi:“MI:0915”(physical association)	0.560
CD53	CREB3L1	psi-mi:“MI:0915”(physical association)	0.560
CD53	BCL2L13	psi-mi:“MI:0915”(physical association)	0.560
CD53	BIK	psi-mi:“MI:0915”(physical association)	0.560
CD53	TMEM237	psi-mi:“MI:0915”(physical association)	0.560
ASGR2	CD53	psi-mi:“MI:0915”(physical association)	0.560
CD53	CD53	psi-mi:“MI:0915”(physical association)	0.560
CD53	PLN	psi-mi:“MI:0915”(physical association)	0.560
CD53	CLCN7	psi-mi:“MI:0915”(physical association)	0.560
CD53	LSMEM1	psi-mi:“MI:0915”(physical association)	0.560
CD53	ST6GAL2	psi-mi:“MI:0915”(physical association)	0.560
CD53	CTXN3	psi-mi:“MI:0915”(physical association)	0.560
STRIT1	CD53	psi-mi:“MI:0915”(physical association)	0.560
CD53	SMAGP	psi-mi:“MI:0915”(physical association)	0.560
CD53	CLEC7A	psi-mi:“MI:0915”(physical association)	0.560
CD53	COL4A5	psi-mi:“MI:0915”(physical association)	0.560
CD53	BTN2A2	psi-mi:“MI:0915”(physical association)	0.560
CD37	CD53	psi-mi:“MI:0915”(physical association)	0.560
CD53	SNORC	psi-mi:“MI:0915”(physical association)	0.560
CD53	TRAM1L1	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (96): CD53 (Two-hybrid), CD53 (Two-hybrid), CD53 (Two-hybrid), CD53 (Two-hybrid), CD53 (Two-hybrid), CD53 (Two-hybrid), CD53 (Two-hybrid), CD53 (Two-hybrid), CD53 (Two-hybrid), CD53 (Two-hybrid), CD53 (Two-hybrid), CD53 (Two-hybrid), CD53 (Two-hybrid), CD53 (Two-hybrid), CD53 (Two-hybrid)

ESM2 similar proteins: A5A6N6, C3VMW3, D3ZQJ0, E9QHT9, F1QIK8, O35682, O35912, O88551, O88662, O95832, P19397, P24485, P47801, P54848, P54849, P54850, P54851, P54852, P56745, P56746, P56748, P56750, P57739, Q2KIY2, Q2NKU9, Q4KL25, Q58DM3, Q58DR6, Q5PPI7, Q5RCY3, Q61451, Q63ZU3, Q66HH2, Q66IV3, Q6DFR5, Q6DHP1, Q6GPN9, Q6L708, Q7ZWW7, Q7ZZL8

Diamond homologs: A0A8M2B5N2, A0A8V0ZLT4, B0BM39, B3VSC2, B5X3I6, O14817, O60635, O60636, O75954, P11049, P19397, P24485, P30932, P35762, P40240, P62079, P62080, Q06AA5, Q17QJ5, Q22495, Q2KHY8, Q2KIS9, Q3T0S3, Q4R7W6, Q4V8E0, Q568Y5, Q58CY8, Q58DM3, Q5R9S6, Q5RAP3, Q5RC27, Q61451, Q68VK5, Q6AYR9, Q6DCQ3, Q6GMK6, Q80WR1, Q8BJU2, Q8QZY6, Q8R3G9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	21
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1039 predictions. Top by Δscore:

Variant	Effect	Δscore
1:110873249:G:GG	donor_gain	1.0000
1:110891388:TTA:T	acceptor_loss	1.0000
1:110891389:TAGGG:T	acceptor_loss	1.0000
1:110891390:A:AG	acceptor_gain	1.0000
1:110891390:A:C	acceptor_loss	1.0000
1:110891390:AG:A	acceptor_gain	1.0000
1:110891391:G:GA	acceptor_gain	1.0000
1:110891391:GG:G	acceptor_gain	1.0000
1:110891470:GG:G	donor_gain	1.0000
1:110891471:GG:G	donor_gain	1.0000
1:110891471:GGTA:G	donor_loss	1.0000
1:110891472:G:A	donor_loss	1.0000
1:110891472:G:GG	donor_gain	1.0000
1:110894942:T:A	acceptor_gain	1.0000
1:110873247:AG:A	donor_gain	0.9900
1:110873248:GG:G	donor_gain	0.9900
1:110889105:T:G	donor_gain	0.9900
1:110891383:A:AG	acceptor_gain	0.9900
1:110891390:AGG:A	acceptor_gain	0.9900
1:110891391:GGG:G	acceptor_gain	0.9900
1:110891391:GGGC:G	acceptor_gain	0.9900
1:110891391:GGGCA:G	acceptor_gain	0.9900
1:110891438:G:GG	donor_gain	0.9900
1:110891467:TTTGG:T	donor_gain	0.9900
1:110891468:TTGG:T	donor_gain	0.9900
1:110892344:GATCT:G	acceptor_gain	0.9900
1:110892530:GTCG:G	donor_gain	0.9900
1:110892532:CGGT:C	donor_loss	0.9900
1:110892533:GGT:G	donor_loss	0.9900
1:110892534:GTGA:G	donor_loss	0.9900

AlphaMissense

1441 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:110896688:G:C	W153C	0.997
1:110896688:G:T	W153C	0.997
1:110895035:T:A	W135R	0.993
1:110895035:T:C	W135R	0.993
1:110896659:T:A	C144S	0.992
1:110896660:G:C	C144S	0.992
1:110896665:G:T	G146C	0.992
1:110892459:G:C	G60R	0.991
1:110894327:T:C	F85L	0.991
1:110894329:C:A	F85L	0.991
1:110894329:C:G	F85L	0.991
1:110897881:T:C	C193R	0.991
1:110892498:G:C	G73R	0.990
1:110896659:T:C	C144R	0.990
1:110896710:T:A	C161S	0.990
1:110896711:G:C	C161S	0.990
1:110897812:T:A	C170S	0.989
1:110897813:G:C	C170S	0.989
1:110895037:G:C	W135C	0.988
1:110895037:G:T	W135C	0.988
1:110896661:T:G	C144W	0.988
1:110896662:T:A	C145S	0.988
1:110896663:G:C	C145S	0.988
1:110896666:G:T	G146V	0.988
1:110892460:G:A	G60D	0.987
1:110892354:T:C	C25R	0.986
1:110892373:G:A	G31E	0.986
1:110892489:G:C	G70R	0.986
1:110897875:T:C	C191R	0.986
1:110894985:T:C	L118P	0.985

dbSNP variants (sampled 300 via entrez): RS1000275003 (1:110889414 C>G), RS1000281431 (1:110895876 C>T), RS1000289726 (1:110896238 T>A), RS1000575800 (1:110883176 T>C), RS1000610857 (1:110890679 G>A), RS1000726465 (1:110890396 G>A), RS1000750818 (1:110897417 T>C), RS1000816375 (1:110895763 G>A), RS1000835559 (1:110876926 T>C), RS1000889386 (1:110884431 G>A), RS1000941146 (1:110884694 A>G), RS1001023527 (1:110884462 T>C), RS1001200089 (1:110872725 G>A,C), RS1001227741 (1:110888403 G>T), RS1001272914 (1:110871040 G>C)

Disease associations

OMIM: gene MIM:151525 | 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
GCST001272_4	Cytomegalovirus antibody response	5.000000e-06
GCST001762_378	Obesity-related traits	9.000000e-06

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

24 total (human), top 24 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Tretinoin	increases expression, increases reaction, affects cotreatment	4
Antirheumatic Agents	decreases expression	2
testosterone enanthate	affects expression	1
triphenyl phosphate	affects expression	1
terbufos	decreases methylation	1
cobaltous chloride	increases expression	1
tamibarotene	increases expression	1
CGP 52608	increases reaction, affects binding	1
Arsenic Trioxide	increases expression, affects cotreatment	1
Benzo(a)pyrene	decreases methylation	1
Cadmium	decreases expression, increases abundance	1
Calcitriol	decreases expression	1
Cisplatin	increases expression	1
Dexamethasone	increases expression	1
Diuron	decreases expression	1
Fonofos	decreases methylation	1
Parathion	decreases methylation	1
Phthalic Acids	decreases methylation	1
Dronabinol	decreases expression	1
Thiophenes	increases expression, increases reaction	1
Triclosan	decreases expression	1
Cyclosporine	increases methylation	1
Sodium Selenite	increases expression	1
Cadmium Chloride	decreases expression, increases abundance	1

Clinical trials (associated diseases)

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