CILP
gene geneOn this page
Also known as HsT18872CILP1
Summary
CILP (cartilage intermediate layer protein, HGNC:1980) is a protein-coding gene on chromosome 15q22.31, encoding Cartilage intermediate layer protein 1 (O75339). Probably plays a role in cartilage scaffolding.
Major alterations in the composition of the cartilage extracellular matrix occur in joint disease, such as osteoarthrosis. This gene encodes the cartilage intermediate layer protein (CILP), which increases in early osteoarthrosis cartilage. The encoded protein was thought to encode a protein precursor for two different proteins; an N-terminal CILP and a C-terminal homolog of NTPPHase, however, later studies identified no nucleotide pyrophosphatase phosphodiesterase (NPP) activity. The full-length and the N-terminal domain of this protein was shown to function as an IGF-1 antagonist. An allelic variant of this gene has been associated with lumbar disc disease.
Source: NCBI Gene 8483 — RefSeq curated summary.
At a glance
- GWAS associations: 5
- Clinical variants (ClinVar): 241 total
- MANE Select transcript:
NM_003613
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:1980 |
| Approved symbol | CILP |
| Name | cartilage intermediate layer protein |
| Location | 15q22.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | HsT18872, CILP1 |
| Ensembl gene | ENSG00000138615 |
| Ensembl biotype | protein_coding |
| OMIM | 603489 |
| Entrez | 8483 |
Gene structure
Transcript identifiers
Ensembl transcripts: 5 — 5 protein_coding
ENST00000261883, ENST00000888802, ENST00000888803, ENST00000941156, ENST00000941157
RefSeq mRNA: 1 — MANE Select: NM_003613
NM_003613
CCDS: CCDS10203
Canonical transcript exons
ENST00000261883 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000693673 | 65201872 | 65202029 |
| ENSE00000693676 | 65203362 | 65203470 |
| ENSE00000693679 | 65204268 | 65204582 |
| ENSE00000693683 | 65205287 | 65205466 |
| ENSE00000693688 | 65206782 | 65207051 |
| ENSE00000693693 | 65207672 | 65207764 |
| ENSE00001200864 | 65211428 | 65211473 |
| ENSE00001200871 | 65209695 | 65209861 |
| ENSE00001287843 | 65194760 | 65199099 |
Expression profiles
Bgee: expression breadth ubiquitous, 218 present calls, max score 99.27.
FANTOM5 (CAGE): breadth broad, TPM avg 2.5243 / max 214.0913, expressed in 194 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 150535 | 2.5243 | 194 |
Top tissues by expression
286 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| calcaneal tendon | UBERON:0003701 | 99.27 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 97.96 | gold quality |
| tendon | UBERON:0000043 | 97.64 | gold quality |
| synovial joint | UBERON:0002217 | 97.04 | gold quality |
| pericardium | UBERON:0002407 | 94.37 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 90.12 | gold quality |
| skin of hip | UBERON:0001554 | 89.81 | gold quality |
| diaphragm | UBERON:0001103 | 89.72 | gold quality |
| gall bladder | UBERON:0002110 | 89.24 | gold quality |
| decidua | UBERON:0002450 | 88.77 | gold quality |
| tibia | UBERON:0000979 | 88.67 | gold quality |
| layer of synovial tissue | UBERON:0007616 | 88.60 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 88.53 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 88.44 | gold quality |
| connective tissue | UBERON:0002384 | 88.13 | gold quality |
| adipose tissue | UBERON:0001013 | 88.09 | gold quality |
| body of tongue | UBERON:0011876 | 88.06 | gold quality |
| nipple | UBERON:0002030 | 87.50 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 87.43 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 87.30 | gold quality |
| left uterine tube | UBERON:0001303 | 87.13 | gold quality |
| triceps brachii | UBERON:0001509 | 87.03 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 87.00 | gold quality |
| olfactory bulb | UBERON:0002264 | 86.69 | silver quality |
| endocervix | UBERON:0000458 | 86.57 | gold quality |
| tibialis anterior | UBERON:0001385 | 86.54 | gold quality |
| deltoid | UBERON:0001476 | 86.47 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 86.46 | gold quality |
| omental fat pad | UBERON:0010414 | 86.33 | gold quality |
| peritoneum | UBERON:0002358 | 86.25 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
2 targets.
| Target | Regulation |
|---|---|
| ACTA2 | Repression |
| CCN2 | Repression |
Upstream regulators (CollecTRI, top): IGF1, SMAD3, TGFB1
miRNA regulators (miRDB)
53 targeting CILP, 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-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-302E | 99.96 | 70.74 | 2669 |
| HSA-LET-7C-3P | 99.95 | 73.42 | 2862 |
| HSA-MIR-1297 | 99.91 | 73.41 | 3162 |
| HSA-MIR-3180-5P | 99.82 | 69.12 | 2422 |
| HSA-MIR-520F-3P | 99.82 | 71.32 | 1216 |
| HSA-MIR-3133 | 99.81 | 70.92 | 3506 |
| HSA-MIR-26A-5P | 99.78 | 73.52 | 2303 |
| HSA-MIR-26B-5P | 99.78 | 73.51 | 2305 |
| HSA-MIR-498-5P | 99.76 | 69.64 | 1807 |
| HSA-MIR-4465 | 99.71 | 72.56 | 2096 |
| HSA-MIR-4729 | 99.69 | 72.18 | 4233 |
| HSA-MIR-586 | 99.65 | 70.40 | 2051 |
| HSA-MIR-4804-3P | 99.65 | 67.78 | 866 |
| HSA-MIR-5197-5P | 99.64 | 69.08 | 1494 |
| HSA-MIR-451B | 99.55 | 68.28 | 1380 |
| HSA-MIR-4687-3P | 99.48 | 66.41 | 968 |
| HSA-MIR-6083 | 99.47 | 68.73 | 2393 |
| HSA-MIR-582-5P | 99.47 | 70.79 | 2635 |
| HSA-MIR-4797-5P | 99.39 | 68.01 | 1354 |
| HSA-MIR-5697 | 99.39 | 67.74 | 1249 |
| HSA-MIR-542-3P | 99.34 | 67.58 | 1270 |
| HSA-MIR-3678-3P | 99.31 | 67.10 | 1432 |
| HSA-MIR-7974 | 99.24 | 65.48 | 1137 |
| HSA-MIR-3125 | 99.14 | 68.49 | 2269 |
| HSA-MIR-3916 | 98.99 | 68.04 | 2155 |
| HSA-MIR-6859-5P | 98.99 | 68.07 | 2049 |
Literature-anchored findings (GeneRIF, showing 11)
- CILP regulates TGF-beta signaling and that this regulation has a crucial role in the etiology and pathogenesis of LDD. (PMID:15864306)
- These observations, together with the finding that CILP protein binds and inhibits TGF-beta1, suggest that CILP and TGF-beta1 may form a functional feedback loop that controls chondrocyte metabolism. (PMID:16413503)
- SNP analysis suggested that the CILP gene is not a major risk factor for symptoms of lumbar disc disease in Finnish or Chinese populations. (PMID:17220213)
- the CILP gene 1184T/C polymorphism is a significant risk factor for lumbar disc degeneration occurrence in Japanese collegiate judo athletes (PMID:19569011)
- The researchers found that the single nucleotide polymorphism (1184T/C) of the CILP gene is associated an increased risk of lumbar disc degeneration in male athletes. (PMID:20724643)
- CILP is involved in the etiology of intervertebral disc degeneration among young adults. (PMID:22107760)
- Meta-analysis. Our results confirm the positive association between CILP and intervertebral disc degeneration, providing novel clues for clarifying the role of CILP in the development of IVD. (PMID:27359356)
- CILP rs2073711 TT is associated with increased risk of symmetrical hand osteoarthritis particularly in individuals with low variation in work tasks. (PMID:29233086)
- CILP gene polymorphism (rs2073711) is associated with a lower risk of lumbar disc degeneration. (PMID:30288688)
- CILP is a potential pan-cancer marker: combined silico study and in vitro analyses. (PMID:37968343)
- CILP-1 Is a Biomarker for Backward Failure and Right Ventricular Dysfunction in HFrEF. (PMID:38132152)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | cilp | ENSDARG00000053362 |
| mus_musculus | Cilp | ENSMUSG00000042254 |
| rattus_norvegicus | Cilp | ENSRNOG00000029911 |
Paralogs (1): CILP2 (ENSG00000160161)
Protein
Protein identifiers
Cartilage intermediate layer protein 1 — O75339 (reviewed: O75339)
Alternative names: Cartilage intermediate-layer protein
All UniProt accessions (1): O75339
UniProt curated annotations — full annotation on UniProt →
Function. Probably plays a role in cartilage scaffolding. May act by antagonizing TGF-beta1 (TGFB1) and IGF1 functions. Has the ability to suppress IGF1-induced proliferation and sulfated proteoglycan synthesis, and inhibits ligand-induced IGF1R autophosphorylation. May inhibit TGFB1-mediated induction of cartilage matrix genes via its interaction with TGFB1. Overexpression may lead to impair chondrocyte growth and matrix repair and indirectly promote inorganic pyrophosphate (PPi) supersaturation in aging and osteoarthritis cartilage.
Subunit / interactions. Monomer. Interacts with TGFB1.
Subcellular location. Secreted. Extracellular space. Extracellular matrix.
Tissue specificity. Specifically expressed in cartilage. Localizes in the intermediates layer of articular cartilage but neither in the superficial nor in the deepest regions. Specifically and highly expressed in intervertebral disk tissue. Expression increases with aging in hip articular cartilage. Overexpressed in articular hyaline cartilage from patients with calcium pyrophosphate dihydrate crystal deposition disease (CPPD). Expression in intervertebral disk tissue from individuals with lumbar disk disease increases as disk degeneration progresses.
Post-translational modifications. Cleaved into 2 chains possibly by a furin-like protease upon or preceding secretion.
Disease relevance. Intervertebral disc disease (IDD) [MIM:603932] A common musculo-skeletal disorder caused by degeneration of intervertebral disks of the lumbar spine. It results in low-back pain and unilateral leg pain. Disease susceptibility is associated with variants affecting the gene represented in this entry.
Miscellaneous. Antibodies against CILP are detected in patients with early-stage knee osteoarthritis and rheumatoid arthritis.
RefSeq proteins (1): NP_003604* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000884 | TSP1_rpt | Repeat |
| IPR003598 | Ig_sub2 | Domain |
| IPR003599 | Ig_sub | Domain |
| IPR007110 | Ig-like_dom | Domain |
| IPR008969 | CarboxyPept-like_regulatory | Homologous_superfamily |
| IPR013783 | Ig-like_fold | Homologous_superfamily |
| IPR025155 | WxxW_domain | Domain |
| IPR036179 | Ig-like_dom_sf | Homologous_superfamily |
| IPR036383 | TSP1_rpt_sf | Homologous_superfamily |
| IPR039675 | CILP1/CILP2 | Family |
| IPR056255 | CILP-1/2_dom | Domain |
| IPR056256 | CILP-1/2_b-sand_dom2 | Domain |
| IPR056257 | CILP-1/2_8th | Domain |
| IPR056258 | CILP-1/2_C | Domain |
Pfam: PF00090, PF13330, PF13927, PF23591, PF23599, PF23708, PF23730
UniProt features (35 total): sequence variant 11, glycosylation site 8, disulfide bond 4, sequence conflict 4, chain 3, domain 2, signal peptide 1, region of interest 1, compositionally biased region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O75339-F1 | 80.30 | 0.35 |
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 (4): 161–195, 165–200, 177–185, 330–376
Glycosylation sites (8): 346, 420, 550, 631, 1000, 1056, 129, 132
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-2404192 | Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R) |
MSigDB gene sets: 118 (showing top):
GOBP_SMAD_PROTEIN_SIGNAL_TRANSDUCTION, TURASHVILI_BREAST_LOBULAR_CARCINOMA_VS_DUCTAL_NORMAL_UP, GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS, MODULE_64, SMID_BREAST_CANCER_RELAPSE_IN_LUNG_DN, CAGCTG_AP4_Q5, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, GOBP_INSULIN_LIKE_GROWTH_FACTOR_RECEPTOR_SIGNALING_PATHWAY, GOBP_REGULATION_OF_TRANSMEMBRANE_RECEPTOR_PROTEIN_SERINE_THREONINE_KINASE_SIGNALING_PATHWAY, GOBP_RESPONSE_TO_TRANSFORMING_GROWTH_FACTOR_BETA, GOMF_EXTRACELLULAR_MATRIX_STRUCTURAL_CONSTITUENT, GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_TRANSFORMING_GROWTH_FACTOR_BETA_STIMULUS, GOBP_RESPONSE_TO_GROWTH_FACTOR, GOBP_REGULATION_OF_INSULIN_LIKE_GROWTH_FACTOR_RECEPTOR_SIGNALING_PATHWAY, GOBP_TRANSFORMING_GROWTH_FACTOR_BETA_RECEPTOR_SIGNALING_PATHWAY
GO Biological Process (4): negative regulation of gene expression (GO:0010629), negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512), negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569), negative regulation of SMAD protein signal transduction (GO:0060392)
GO Molecular Function (1): extracellular matrix structural constituent (GO:0005201)
GO Cellular Component (4): obsolete extracellular space (GO:0005615), extracellular matrix (GO:0031012), extracellular exosome (GO:0070062), extracellular region (GO:0005576)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Signaling by Receptor Tyrosine Kinases | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway | 2 |
| gene expression | 1 |
| regulation of gene expression | 1 |
| negative regulation of macromolecule biosynthetic process | 1 |
| transforming growth factor beta receptor signaling pathway | 1 |
| regulation of transforming growth factor beta receptor signaling pathway | 1 |
| negative regulation of signal transduction | 1 |
| regulation of insulin-like growth factor receptor signaling pathway | 1 |
| insulin-like growth factor receptor signaling pathway | 1 |
| regulation of SMAD protein signal transduction | 1 |
| SMAD protein signal transduction | 1 |
| negative regulation of intracellular signal transduction | 1 |
| structural molecule activity | 1 |
| extracellular matrix | 1 |
| external encapsulating structure | 1 |
| extracellular vesicle | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
956 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CILP | ASPN | Q9BXN1 | 843 |
| CILP | COL9A3 | Q14050 | 819 |
| CILP | COL9A2 | Q14055 | 803 |
| CILP | COL11A1 | P12107 | 755 |
| CILP | THBS2 | P35442 | 646 |
| CILP | FURIN | P09958 | 611 |
| CILP | LUM | P51884 | 566 |
| CILP | PRELP | P51888 | 559 |
| CILP | ACAN | P16112 | 548 |
| CILP | COMP | P49747 | 524 |
| CILP | CHAD | O15335 | 517 |
| CILP | PRG4 | Q92954 | 502 |
| CILP | FMOD | Q06828 | 493 |
| CILP | FN1 | P02751 | 487 |
| CILP | HAPLN1 | P10915 | 469 |
IntAct
5 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TGFB1 | CILP | psi-mi:“MI:0914”(association) | 0.430 |
| CILP | TGFB1 | psi-mi:“MI:0403”(colocalization) | 0.430 |
| ATG16L1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| ATG16L1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (4): ERH (Cross-Linking-MS (XL-MS)), CILP (Affinity Capture-MS), CILP (Affinity Capture-MS), CILP (Affinity Capture-MS)
ESM2 similar proteins: A0A8M9PFP2, A1L2K1, A4IGL3, A4IH88, A8WFR0, B0S5G3, F1LW30, L7VG99, O42146, O73746, O75339, O93449, O97591, P12032, P15203, P16035, P16176, P16368, P20614, P23667, P25785, P26652, P30120, P30121, P30970, P35625, P39876, P48032, P61269, P79121, Q01H84, Q09199, Q28GB8, Q3KTM2, Q5PXZ9, Q60453, Q66K08, Q6DDG2, Q6UXZ4, Q7ZV46
Diamond homologs: D3Z7H8, O15394, O19112, O35136, O75339, P20241, P70193, P98167, Q66K08, Q6PDN3, Q8IUL8, Q8WZ42, A4IGL7, G5ECS8, P35440, Q2TBA3, Q7TQM3, Q91V87, Q92626, Q96JA1, Q9UDY8, A2ASS6, D3YXG0, P17948, Q15746, Q2EY14, Q2EY15, Q2VWP7, Q2VWP9, Q3UH53, Q589G5, Q58EX2, Q6UWL6, Q6V4S5, Q7Z5N4, Q8AV57, Q8BQC3, Q8IVU1, Q96RW7
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
241 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 216 |
| Likely benign | 14 |
| Benign | 6 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1393 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 15:65201866:GCTTA:G | donor_loss | 1.0000 |
| 15:65201867:CTTAC:C | donor_loss | 1.0000 |
| 15:65201869:TAC:T | donor_loss | 1.0000 |
| 15:65201870:A:AC | donor_gain | 1.0000 |
| 15:65201870:A:C | donor_loss | 1.0000 |
| 15:65201871:C:CC | donor_gain | 1.0000 |
| 15:65201871:C:T | donor_loss | 1.0000 |
| 15:65202027:TAC:T | acceptor_gain | 1.0000 |
| 15:65202030:C:CC | acceptor_gain | 1.0000 |
| 15:65202030:CTGC:C | acceptor_loss | 1.0000 |
| 15:65202031:T:A | acceptor_loss | 1.0000 |
| 15:65207670:A:AC | donor_gain | 1.0000 |
| 15:65207670:ACTCT:A | donor_gain | 1.0000 |
| 15:65207671:C:CC | donor_gain | 1.0000 |
| 15:65207671:CT:C | donor_gain | 1.0000 |
| 15:65207671:CTCT:C | donor_gain | 1.0000 |
| 15:65207671:CTCTC:C | donor_gain | 1.0000 |
| 15:65207674:T:A | donor_gain | 1.0000 |
| 15:65207761:CTCC:C | acceptor_gain | 1.0000 |
| 15:65207763:CC:C | acceptor_gain | 1.0000 |
| 15:65207763:CCCT:C | acceptor_loss | 1.0000 |
| 15:65207764:CC:C | acceptor_gain | 1.0000 |
| 15:65207764:CCTG:C | acceptor_loss | 1.0000 |
| 15:65207765:C:CC | acceptor_gain | 1.0000 |
| 15:65207766:T:A | acceptor_loss | 1.0000 |
| 15:65209712:T:TA | donor_gain | 1.0000 |
| 15:65199100:C:CC | acceptor_gain | 0.9900 |
| 15:65201870:AC:A | donor_gain | 0.9900 |
| 15:65201871:CC:C | donor_gain | 0.9900 |
| 15:65201871:CCT:C | donor_gain | 0.9900 |
AlphaMissense
7814 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 15:65197001:G:C | C1095W | 0.999 |
| 15:65197003:A:G | C1095R | 0.999 |
| 15:65197002:C:G | C1095S | 0.998 |
| 15:65197003:A:T | C1095S | 0.998 |
| 15:65197257:C:G | C1010S | 0.998 |
| 15:65197258:A:G | C1010R | 0.998 |
| 15:65197258:A:T | C1010S | 0.998 |
| 15:65197424:G:C | C954W | 0.998 |
| 15:65197425:C:T | C954Y | 0.998 |
| 15:65197426:A:G | C954R | 0.998 |
| 15:65197454:C:A | W944C | 0.998 |
| 15:65197454:C:G | W944C | 0.998 |
| 15:65197002:C:T | C1095Y | 0.997 |
| 15:65197256:G:C | C1010W | 0.997 |
| 15:65197271:A:C | C1005W | 0.997 |
| 15:65197273:A:G | C1005R | 0.997 |
| 15:65197451:C:A | W945C | 0.997 |
| 15:65197451:C:G | W945C | 0.997 |
| 15:65197456:A:G | W944R | 0.997 |
| 15:65197456:A:T | W944R | 0.997 |
| 15:65197002:C:A | C1095F | 0.996 |
| 15:65197057:A:C | Y1077D | 0.996 |
| 15:65197189:A:G | C1033R | 0.996 |
| 15:65197257:C:T | C1010Y | 0.996 |
| 15:65197310:G:C | S992R | 0.996 |
| 15:65197310:G:T | S992R | 0.996 |
| 15:65197312:T:G | S992R | 0.996 |
| 15:65197425:C:A | C954F | 0.996 |
| 15:65198164:A:G | W708R | 0.996 |
| 15:65198164:A:T | W708R | 0.996 |
dbSNP variants (sampled 300 via entrez): RS1000004789 (15:65206722 C>G,T), RS1000037823 (15:65196134 G>C), RS1000104363 (15:65194792 A>G), RS1000214808 (15:65212014 C>T), RS1000410232 (15:65196537 G>A), RS1000656709 (15:65201400 G>A), RS1000880630 (15:65201651 C>T), RS1000890024 (15:65195686 C>G), RS1000975125 (15:65202091 G>A), RS1001127455 (15:65207611 C>A,T), RS1001490829 (15:65207371 A>C,G,T), RS1001520853 (15:65212688 C>T), RS1001541937 (15:65203132 C>A,G,T), RS1001656579 (15:65202831 C>A,G,T), RS1001727479 (15:65208973 A>G)
Disease associations
OMIM: gene MIM:603489 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
5 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST010796_4774 | Electrocardiogram morphology (amplitude at temporal datapoints) | 5.000000e-11 |
| GCST010796_4775 | Electrocardiogram morphology (amplitude at temporal datapoints) | 2.000000e-09 |
| GCST010796_4776 | Electrocardiogram morphology (amplitude at temporal datapoints) | 4.000000e-09 |
| GCST010796_4777 | Electrocardiogram morphology (amplitude at temporal datapoints) | 5.000000e-09 |
| GCST010796_4778 | Electrocardiogram morphology (amplitude at temporal datapoints) | 2.000000e-08 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004327 | electrocardiography |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
28 total (human), top 28 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | increases expression, affects cotreatment | 2 |
| Dexamethasone | increases expression, affects cotreatment | 2 |
| Estradiol | affects cotreatment, increases expression | 2 |
| Nickel | decreases expression | 2 |
| Genistein | increases expression | 2 |
| methylmercuric chloride | increases expression | 1 |
| pirinixic acid | affects binding, increases activity, increases expression | 1 |
| sodium arsenite | increases expression | 1 |
| perfluorooctanoic acid | increases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Calcitriol | increases expression | 1 |
| Cisplatin | affects response to substance | 1 |
| Copper | affects binding, decreases expression | 1 |
| Diethylstilbestrol | increases expression | 1 |
| Disulfiram | affects binding, decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Lipopolysaccharides | affects response to substance, increases expression | 1 |
| Plant Extracts | decreases expression, affects cotreatment | 1 |
| Progesterone | increases expression, affects cotreatment | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| 1-Methyl-3-isobutylxanthine | affects cotreatment, increases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Medroxyprogesterone Acetate | decreases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.