CRTAC1
gene geneOn this page
Also known as FLJ10320CEP-68ASPIC1
Summary
CRTAC1 (cartilage acidic protein 1, HGNC:14882) is a protein-coding gene on chromosome 10q24.2, encoding Cartilage acidic protein 1 (Q9NQ79).
This gene encodes a glycosylated extracellular matrix protein that is found in the interterritorial matrix of articular deep zone cartilage. This protein is used as a marker to distinguish chondrocytes from osteoblasts and mesenchymal stem cells in culture. The presence of FG-GAP motifs and an RGD integrin-binding motif suggests that this protein may be involved in cell-cell or cell-matrix interactions. Copy number alterations in this gene have been observed in neurofibromatosis type 1-associated glomus tumors. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 55118 — RefSeq curated summary.
At a glance
- GWAS associations: 18
- Clinical variants (ClinVar): 127 total
- MANE Select transcript:
NM_018058
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14882 |
| Approved symbol | CRTAC1 |
| Name | cartilage acidic protein 1 |
| Location | 10q24.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ10320, CEP-68, ASPIC1 |
| Ensembl gene | ENSG00000095713 |
| Ensembl biotype | protein_coding |
| OMIM | 606276 |
| Entrez | 55118 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 8 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000309155, ENST00000370591, ENST00000370597, ENST00000413387, ENST00000436034, ENST00000468549, ENST00000856695, ENST00000856696, ENST00000962752
RefSeq mRNA: 2 — MANE Select: NM_018058
NM_001206528, NM_018058
CCDS: CCDS31266, CCDS55723
Canonical transcript exons
ENST00000370597 — 15 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001133871 | 97936170 | 97936366 |
| ENSE00001354558 | 98011138 | 98011337 |
| ENSE00001602694 | 97901503 | 97901639 |
| ENSE00001665569 | 97904669 | 97904814 |
| ENSE00001688897 | 97917500 | 97917656 |
| ENSE00001690903 | 97896909 | 97896991 |
| ENSE00001711389 | 97884206 | 97884351 |
| ENSE00001764978 | 97923264 | 97923400 |
| ENSE00001771140 | 97908013 | 97908147 |
| ENSE00001802342 | 97895245 | 97895413 |
| ENSE00001806590 | 97895885 | 97895985 |
| ENSE00003548016 | 97865000 | 97865714 |
| ENSE00003655561 | 97880249 | 97880392 |
| ENSE00003659451 | 97882786 | 97882828 |
| ENSE00003844867 | 98030449 | 98030621 |
Expression profiles
Bgee: expression breadth ubiquitous, 225 present calls, max score 99.70.
FANTOM5 (CAGE): breadth broad, TPM avg 3.0622 / max 758.2570, expressed in 395 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 110959 | 2.0449 | 366 |
| 110958 | 1.0089 | 201 |
| 110957 | 0.0084 | 1 |
Top tissues by expression
288 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| tendon of biceps brachii | UBERON:0008188 | 99.70 | gold quality |
| synovial joint | UBERON:0002217 | 99.47 | gold quality |
| layer of synovial tissue | UBERON:0007616 | 97.90 | gold quality |
| endothelial cell | CL:0000115 | 97.80 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 95.41 | gold quality |
| primary visual cortex | UBERON:0002436 | 92.75 | gold quality |
| right uterine tube | UBERON:0001302 | 92.32 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 91.91 | gold quality |
| popliteal artery | UBERON:0002250 | 91.13 | gold quality |
| tibial artery | UBERON:0007610 | 91.09 | gold quality |
| pons | UBERON:0000988 | 90.88 | gold quality |
| prefrontal cortex | UBERON:0000451 | 90.29 | gold quality |
| tendon | UBERON:0000043 | 87.84 | gold quality |
| cartilage tissue | UBERON:0002418 | 87.57 | gold quality |
| seminal vesicle | UBERON:0000998 | 87.07 | gold quality |
| calcaneal tendon | UBERON:0003701 | 87.04 | gold quality |
| occipital lobe | UBERON:0002021 | 86.37 | gold quality |
| aorta | UBERON:0000947 | 86.33 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 86.12 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 85.37 | gold quality |
| frontal cortex | UBERON:0001870 | 85.33 | gold quality |
| cingulate cortex | UBERON:0003027 | 85.03 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 85.03 | gold quality |
| neocortex | UBERON:0001950 | 84.85 | gold quality |
| periodontal ligament | UBERON:0008266 | 84.69 | gold quality |
| right frontal lobe | UBERON:0002810 | 84.39 | gold quality |
| right coronary artery | UBERON:0001625 | 84.05 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 83.76 | gold quality |
| left coronary artery | UBERON:0001626 | 83.60 | gold quality |
| tibial nerve | UBERON:0001323 | 82.97 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-8322 | yes | 8698.15 |
| E-GEOD-135922 | yes | 26.61 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
20 targeting CRTAC1, 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-1193 | 100.00 | 65.93 | 529 |
| HSA-MIR-432-3P | 100.00 | 67.86 | 705 |
| HSA-MIR-7978 | 99.86 | 66.90 | 856 |
| HSA-MIR-370-5P | 99.78 | 66.81 | 706 |
| HSA-MIR-26A-1-3P | 99.64 | 66.81 | 788 |
| HSA-MIR-26A-2-3P | 99.64 | 66.82 | 786 |
| HSA-MIR-2113 | 99.58 | 71.22 | 1521 |
| HSA-MIR-3140-5P | 99.39 | 69.04 | 1136 |
| HSA-MIR-4711-3P | 98.97 | 66.87 | 1020 |
| HSA-MIR-7113-3P | 98.75 | 65.71 | 1120 |
| HSA-MIR-455-5P | 98.74 | 67.31 | 795 |
| HSA-MIR-1-5P | 98.70 | 68.66 | 1017 |
| HSA-MIR-550A-3P | 98.37 | 69.61 | 632 |
| HSA-MIR-6867-3P | 98.12 | 66.07 | 1305 |
| HSA-MIR-676-3P | 97.86 | 65.70 | 668 |
| HSA-MIR-3664-3P | 97.85 | 67.62 | 1452 |
| HSA-MIR-1914-5P | 97.83 | 66.21 | 807 |
| HSA-MIR-200C-5P | 97.71 | 67.73 | 596 |
| HSA-MIR-510-5P | 97.66 | 65.82 | 916 |
| HSA-MIR-1227-3P | 97.36 | 66.94 | 834 |
Literature-anchored findings (GeneRIF, showing 19)
- CRTAC1 acquired an alternate last exon from the tail-to-tail oriented neighbouring gene in humans resulting in the glycosylated isoform CRTAC1-A which represents a new extracellular matrix molecule of articular cartilage. (PMID:17074475)
- in bone fracture patients, 12 proteins were related to bone/cartilage metabolism, including: TGF-beta induced protein IG-H(3), cartilage acidic protein 1, procollagen C proteinase enhancer protein and TGF-beta receptor III. (PMID:17602227)
- Confirm the increase of CRTAC1 in cartilage biopsies from OA patients undergoing joint replacement by real-time PCR and immunohistochemistry. Furthermore, we report that proinflammatory cytokines interleukin-1beta and tumor necrosis factor alpha upregulate CRTAC1 expression in primary articular chondrocytes and synovial fibroblasts. (PMID:27415616)
- These results provided new insights into the mechanism of cataract development, and demonstrated that CRTAC1 could be a potentially novel target for cataract treatment. (PMID:27855397)
- It was shown for the first time the propensity of CRTAC1 to form amyloid-like structures, and it was hypothesized that the aggregating property of CRTAC1 may be related to its disease-association. (PMID:27862299)
- CSF levels of LOTUS correlated inversely with disease activity in both bacterial and viral meningitis; neuroinflammation down-regulated LOTUS expression. (PMID:29454354)
- CRTAC1 expression and nuclear factor-kappa B (NF-kappaB) p65 nuclear translocation were elevated in capsule tissues of cataract patients in comparison with normal controls. The regulatory network involving NF-kappaB, CRTAC1, and p38 may therefore play an important role in cataract formation. (PMID:31999475)
- Cartilage acidic protein 1 promotes increased cell viability, cell proliferation and energy metabolism in primary human dermal fibroblasts. (PMID:32084494)
- Down-regulation of CRTAC1 attenuates UVB-induced pyroptosis in HLECs through inhibiting ROS production. (PMID:32838966)
- The CRTAC1 Protein in Plasma Is Associated With Osteoarthritis and Predicts Progression to Joint Replacement: A Large-Scale Proteomics Scan in Iceland. (PMID:33982893)
- Deciphering the role of cartilage protein 1 in human dermal fibroblasts: a transcriptomic approach. (PMID:34269961)
- CRTAC1 (Cartilage acidic protein 1) inhibits cell proliferation, migration, invasion and epithelial-mesenchymal transition (EMT) process in bladder cancer by downregulating Yin Yang 1 (YY1) to inactivate the TGF-beta pathway. (PMID:34818994)
- Mass spectrometry-based proteomics identify novel serum osteoarthritis biomarkers. (PMID:35606786)
- Plasma proteomics identifies CRTAC1 as a biomarker for osteoarthritis severity and progression. (PMID:35924962)
- Cartilage Acidic Protein 1 in Plasma Associates With Prevalent Osteoarthritis and Predicts Future Risk as Well as Progression to Joint Replacements: Results From the UK Biobank Resource. (PMID:36239377)
- The oncogenic role of TFAP2A in bladder urothelial carcinoma via a novel long noncoding RNA TPRG1-AS1/DNMT3A/CRTAC1 axis. (PMID:36410635)
- Proteomic Analyses of Autologous Chondrocyte Implantation Plasma Highlight Cartilage Acidic Protein 1 as a Candidate for Preclinical Screening. (PMID:37039559)
- CRTAC1 identified as a promising diagnosis and prognostic biomarker in lung adenocarcinoma. (PMID:38755183)
- CRTAC1 has a Compact beta-propeller-TTR Core Stabilized by Potassium Ions. (PMID:39029889)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | crtac1a | ENSDARG00000059826 |
| danio_rerio | crtac1b | ENSDARG00000102517 |
| mus_musculus | Crtac1 | ENSMUSG00000042401 |
| rattus_norvegicus | Crtac1 | ENSRNOG00000015220 |
Protein
Protein identifiers
Cartilage acidic protein 1 — Q9NQ79 (reviewed: Q9NQ79)
Alternative names: 68 kDa chondrocyte-expressed protein, ASPIC
All UniProt accessions (4): Q9NQ79, A0A0C4DFP6, H0Y6C6, Q5T4F6
UniProt curated annotations — full annotation on UniProt →
Subcellular location. Secreted. Extracellular space. Extracellular matrix.
Tissue specificity. Expressed in the interterritorial matrix of articular deep zone cartilage (at protein level). Isoform 1 and isoform 2 are expressed in brain. Isoform 1 is detected in lung and chondrocytes. Detected in cartilage, bone, cultured chondrocytes and lung, and at low levels in heart. Not detected in osteoblasts.
Post-translational modifications. O-glycosylated.
Induction. Up-regulated by BMP4 (at protein level). Up-regulated in mesenchymal stem cells undergoing chondrogenic differentiation and by BMP4.
Miscellaneous. Shares an exon with the neighboring tail-to-tail oriented gene GOLGA7B.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9NQ79-1 | 1, CRTAC1-A | yes |
| Q9NQ79-2 | 2, CRTAC1-B | |
| Q9NQ79-3 | 3 |
RefSeq proteins (2): NP_001193457, NP_060528* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001881 | EGF-like_Ca-bd_dom | Domain |
| IPR011519 | UnbV_ASPIC | Domain |
| IPR013517 | FG-GAP | Repeat |
| IPR018097 | EGF_Ca-bd_CS | Conserved_site |
| IPR027039 | Crtac1 | Family |
| IPR028994 | Integrin_alpha_N | Homologous_superfamily |
| IPR049883 | NOTCH1_EGF-like | Domain |
Pfam: PF07593, PF07645, PF13517
UniProt features (22 total): glycosylation site 5, repeat 4, disulfide bond 3, splice variant 3, sequence variant 3, signal peptide 1, chain 1, sequence conflict 1, domain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NQ79-F1 | 86.55 | 0.74 |
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): 563–577, 570–586, 592–605
Glycosylation sites (5): 621, 626, 608, 618, 619
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 104 (showing top):
RRAGTTGT_UNKNOWN, GOBP_NEURON_RECOGNITION, BENPORATH_ES_WITH_H3K27ME3, GOBP_SYNAPSE_ASSEMBLY, GOBP_NEUROGENESIS, GOBP_REGULATION_OF_CELL_JUNCTION_ASSEMBLY, TGACCTY_ERR1_Q2, AP2_Q3, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GGGTGGRR_PAX4_03, GOBP_FOREBRAIN_DEVELOPMENT, GOBP_CELL_JUNCTION_ORGANIZATION, GOBP_REGULATION_OF_SYNAPSE_ASSEMBLY, GOBP_REGULATION_OF_SYNAPSE_STRUCTURE_OR_ACTIVITY, GOBP_HEAD_DEVELOPMENT
GO Biological Process (3): axonal fasciculation (GO:0007413), olfactory bulb development (GO:0021772), regulation of synapse assembly (GO:0051963)
GO Molecular Function (2): calcium ion binding (GO:0005509), protein binding (GO:0005515)
GO Cellular Component (5): postsynaptic density (GO:0014069), growth cone (GO:0030426), extracellular exosome (GO:0070062), glutamatergic synapse (GO:0098978), extracellular region (GO:0005576)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| neuron recognition | 1 |
| axon development | 1 |
| neuron projection fasciculation | 1 |
| olfactory lobe development | 1 |
| anatomical structure development | 1 |
| synapse assembly | 1 |
| regulation of synapse organization | 1 |
| regulation of cell junction assembly | 1 |
| metal ion binding | 1 |
| binding | 1 |
| asymmetric synapse | 1 |
| postsynaptic specialization | 1 |
| site of polarized growth | 1 |
| distal axon | 1 |
| extracellular vesicle | 1 |
| synapse | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1104 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CRTAC1 | EGF | P01133 | 511 |
| CRTAC1 | GPLD1 | P80108 | 467 |
| CRTAC1 | CILP | O75339 | 465 |
| CRTAC1 | LRFN1 | Q9P244 | 423 |
| CRTAC1 | FNDC10 | F2Z333 | 419 |
| CRTAC1 | NPIPB6 | E9PJ23 | 392 |
| CRTAC1 | DNAI4 | Q5VTH9 | 380 |
| CRTAC1 | CLDN19 | Q8N6F1 | 347 |
| CRTAC1 | CCDC137 | Q6PK04 | 343 |
| CRTAC1 | SCAPER | Q9BY12 | 335 |
| CRTAC1 | GOLGA7B | Q2TAP0 | 330 |
| CRTAC1 | VSTM2B | A6NLU5 | 328 |
| CRTAC1 | FAM204A | Q9H8W3 | 327 |
| CRTAC1 | IGFALS | P35858 | 324 |
| CRTAC1 | CLEC3B | P05452 | 322 |
IntAct
29 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MAPRE2 | CRTAC1 | psi-mi:“MI:0915”(physical association) | 0.830 |
| CRTAC1 | MAPRE2 | psi-mi:“MI:0915”(physical association) | 0.830 |
| TXNDC16 | FOXRED2 | psi-mi:“MI:0914”(association) | 0.730 |
| AQP1 | CRTAC1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CRTAC1 | MORN4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CRTAC1 | AQP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MORN4 | CRTAC1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CRTAC1 | MAPRE3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CFP | B3GLCT | psi-mi:“MI:0914”(association) | 0.530 |
| CD5L | psi-mi:“MI:0915”(physical association) | 0.400 | |
| ITM2B | ILVBL | psi-mi:“MI:0914”(association) | 0.350 |
| WFDC2 | WDR91 | psi-mi:“MI:0914”(association) | 0.350 |
| C1orf54 | AGRN | psi-mi:“MI:0914”(association) | 0.350 |
| CRTAC1 | ZMYM6 | psi-mi:“MI:0914”(association) | 0.350 |
| TXNDC16 | SEMG1 | psi-mi:“MI:0914”(association) | 0.350 |
| A2M | BMP7 | psi-mi:“MI:0914”(association) | 0.350 |
| KRAS | IGKV2D-24 | psi-mi:“MI:0914”(association) | 0.350 |
| MAPRE2 | CRTAC1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| MAPRE3 | CRTAC1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| DSCAM | CRTAC1 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (43): CRTAC1 (Two-hybrid), CRTAC1 (Two-hybrid), MORN4 (Two-hybrid), ZMYM6 (Affinity Capture-MS), CRTAC1 (Affinity Capture-MS), CRTAC1 (Affinity Capture-MS), CRTAC1 (Affinity Capture-MS), MAPRE2 (Affinity Capture-MS), RUVBL1 (Affinity Capture-MS), MTO1 (Affinity Capture-MS), TRAPPC10 (Affinity Capture-MS), BRIP1 (Affinity Capture-MS), TRAPPC9 (Affinity Capture-MS), MOCOS (Affinity Capture-MS), ASPM (Affinity Capture-MS)
ESM2 similar proteins: A0A0N9E2K8, D3YXG0, F4IYM4, H2DF88, O15943, O18756, O93470, O94923, P04412, P0C2H4, P28825, P54834, P55024, P55033, P60755, P60756, Q08761, Q0E908, Q0V9M0, Q13219, Q14703, Q16819, Q5E9N5, Q5NDE5, Q5NDE6, Q60649, Q64230, Q6B3P0, Q6B457, Q75W54, Q7TN16, Q7Z553, Q8BLI4, Q8K3F2, Q8R4K8, Q8R555, Q8UVJ7, Q96RW7, Q98931, Q9EPS3
Diamond homologs: Q0V9M0, Q4V7M2, Q5XH36, Q8R555, Q9NQ79, A0A6I8RMG7, B5DFC9, O35568, O88322, P15306, P27590, P35555, P41413, P48960, Q04592, Q09165, Q12805, Q14112, Q19267, Q2KIT5, Q4G063, Q4V7F2, Q5EA46, Q5RBP1, Q5W7P8, Q60438, Q6UXH1, Q6UXI9, Q75N90, Q7SXF6, Q7YQD7, Q7ZXL5, Q80T14, Q862Z3, Q86XX4, Q8AVH7, Q8BPB5, Q8K4G1, Q8R4U0, Q8SQA4
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
127 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 102 |
| Likely benign | 4 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2676 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 10:97880244:CT:C | donor_loss | 1.0000 |
| 10:97880245:TCA:T | donor_loss | 1.0000 |
| 10:97880248:C:CT | donor_loss | 1.0000 |
| 10:97884201:CCCA:C | donor_loss | 1.0000 |
| 10:97884202:CCACC:C | donor_loss | 1.0000 |
| 10:97884203:CACCT:C | donor_loss | 1.0000 |
| 10:97884205:C:CG | donor_loss | 1.0000 |
| 10:97884207:T:TA | donor_gain | 1.0000 |
| 10:97884222:T:TA | donor_gain | 1.0000 |
| 10:97884347:CTTCC:C | acceptor_gain | 1.0000 |
| 10:97884349:TCC:T | acceptor_gain | 1.0000 |
| 10:97884350:CCC:C | acceptor_gain | 1.0000 |
| 10:97884352:C:CC | acceptor_gain | 1.0000 |
| 10:97895239:ACT:A | donor_loss | 1.0000 |
| 10:97895241:TCA:T | donor_loss | 1.0000 |
| 10:97895242:CA:C | donor_loss | 1.0000 |
| 10:97895243:A:AC | donor_gain | 1.0000 |
| 10:97895243:AC:A | donor_gain | 1.0000 |
| 10:97895244:C:CC | donor_gain | 1.0000 |
| 10:97895244:C:CT | donor_loss | 1.0000 |
| 10:97895244:CC:C | donor_gain | 1.0000 |
| 10:97895409:AAGCC:A | acceptor_gain | 1.0000 |
| 10:97895410:AGCC:A | acceptor_gain | 1.0000 |
| 10:97895411:GCC:G | acceptor_gain | 1.0000 |
| 10:97895412:CC:C | acceptor_gain | 1.0000 |
| 10:97895412:CCC:C | acceptor_gain | 1.0000 |
| 10:97895413:CC:C | acceptor_gain | 1.0000 |
| 10:97895413:CCT:C | acceptor_loss | 1.0000 |
| 10:97895414:C:CA | acceptor_loss | 1.0000 |
| 10:97895414:C:CC | acceptor_gain | 1.0000 |
AlphaMissense
4340 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 10:97880311:C:G | C586S | 0.999 |
| 10:97880312:A:T | C586S | 0.999 |
| 10:97895943:A:G | L420P | 0.999 |
| 10:97904712:C:G | R318P | 0.999 |
| 10:97936189:G:C | N134K | 0.999 |
| 10:97936189:G:T | N134K | 0.999 |
| 10:97936245:C:A | G116W | 0.999 |
| 10:97936346:A:T | V82D | 0.999 |
| 10:97936351:G:C | N80K | 0.999 |
| 10:97936351:G:T | N80K | 0.999 |
| 10:97865591:T:A | I132N | 0.998 |
| 10:97865595:G:C | E133D | 0.998 |
| 10:97865595:G:T | E133D | 0.998 |
| 10:97880312:A:G | C586R | 0.998 |
| 10:97880338:C:G | C577S | 0.998 |
| 10:97880339:A:G | C577R | 0.998 |
| 10:97880339:A:T | C577S | 0.998 |
| 10:97880359:C:G | C570S | 0.998 |
| 10:97880360:A:G | C570R | 0.998 |
| 10:97880360:A:T | C570S | 0.998 |
| 10:97880380:C:G | C563S | 0.998 |
| 10:97880381:A:T | C563S | 0.998 |
| 10:97895928:C:A | G425V | 0.998 |
| 10:97895928:C:T | G425E | 0.998 |
| 10:97896909:C:A | G406W | 0.998 |
| 10:97896915:C:G | G404R | 0.998 |
| 10:97901514:G:C | N374K | 0.998 |
| 10:97901514:G:T | N374K | 0.998 |
| 10:97901599:C:G | R346P | 0.998 |
| 10:97904729:G:C | N312K | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000009290 (10:97877505 C>A), RS1000011797 (10:97955392 C>G), RS1000075711 (10:97904225 C>T), RS1000083887 (10:97984739 C>T), RS1000083894 (10:97877071 G>A), RS1000105693 (10:97942711 CTGTT>C), RS1000111140 (10:97977783 A>G,T), RS1000117718 (10:98030451 C>T), RS1000140194 (10:97864514 G>A), RS1000149214 (10:97931922 C>G,T), RS1000178042 (10:97868070 G>A), RS1000178911 (10:97996784 T>C,G), RS1000212191 (10:98021964 G>A), RS1000236117 (10:97948830 A>G), RS1000252480 (10:97996932 G>A)
Disease associations
OMIM: gene MIM:606276 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
18 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000753_17 | Metabolic syndrome | 9.000000e-06 |
| GCST004747_5 | Lung cancer in never smokers | 9.000000e-08 |
| GCST005829_24 | Hand grip strength | 3.000000e-09 |
| GCST005830_98 | Hand grip strength | 3.000000e-12 |
| GCST006192_45 | Systolic blood pressure x smoking status (ever vs never) interaction (2df test) | 7.000000e-06 |
| GCST006193_2 | Diastolic blood pressure x smoking status (current vs non-current) interaction (2df test) | 3.000000e-07 |
| GCST006195_88 | Systolic blood pressure x smoking status (current vs non-current) interaction (2df test) | 5.000000e-11 |
| GCST006585_2276 | Blood protein levels | 9.000000e-47 |
| GCST009602_20 | Metabolic syndrome | 2.000000e-10 |
| GCST010241_286 | Apolipoprotein A1 levels | 6.000000e-09 |
| GCST010242_331 | HDL cholesterol levels | 3.000000e-13 |
| GCST010244_278 | Triglyceride levels | 6.000000e-16 |
| GCST010397_23 | Gut microbiota (bacterial taxa, rank normal transformation method) | 1.000000e-06 |
| GCST010574_4 | Evening vs. morning chronotype (self-assessed) | 9.000000e-06 |
| GCST010988_447 | Adult body size | 2.000000e-18 |
| GCST011122_68 | Walking pace | 1.000000e-08 |
| GCST012332_28 | Multisite chronic pain | 1.000000e-08 |
| GCST90026414_10 | Severe insulin-resistant type 2 diabetes | 8.000000e-06 |
EFO canonical traits (11, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0000195 | metabolic syndrome |
| EFO:0006941 | grip strength measurement |
| EFO:0006335 | systolic blood pressure |
| EFO:0006527 | smoking status measurement |
| EFO:0006336 | diastolic blood pressure |
| EFO:0004614 | apolipoprotein A 1 measurement |
| EFO:0004612 | high density lipoprotein cholesterol measurement |
| EFO:0004530 | triglyceride measurement |
| EFO:0007874 | gut microbiome measurement |
| EFO:0008328 | chronotype measurement |
| EFO:0010100 | multisite chronic pain |
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 |
|---|---|---|
| Valproic Acid | increases methylation, affects expression, increases expression | 4 |
| Smoke | decreases expression | 2 |
| Tobacco Smoke Pollution | decreases expression, increases methylation | 2 |
| Aflatoxin B1 | decreases methylation | 2 |
| propionaldehyde | increases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| butyraldehyde | increases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| aflatoxin B2 | increases methylation | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| entinostat | increases expression | 1 |
| abrine | increases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Cisplatin | increases expression | 1 |
| Diethylhexyl Phthalate | decreases expression | 1 |
| Doxorubicin | increases expression | 1 |
| Methapyrilene | increases methylation | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Rotenone | decreases expression | 1 |
| Tretinoin | increases expression | 1 |
| Triclosan | increases expression | 1 |
| Tunicamycin | increases expression | 1 |
| Gold Compounds | increases expression | 1 |
| Antirheumatic Agents | decreases expression | 1 |
| Thapsigargin | increases 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.