COL21A1
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Summary
COL21A1 (collagen type XXI alpha 1 chain, HGNC:17025) is a protein-coding gene on chromosome 6p12.1, encoding Collagen alpha-1(XXI) chain (Q96P44).
This gene encodes the alpha chain of type XXI collagen, a member of the FACIT (fibril-associated collagens with interrupted helices) collagen family. Type XXI collagen is localized to tissues containing type I collagen and maintains the integrity of the extracellular matrix. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 81578 — RefSeq curated summary.
At a glance
- GWAS associations: 19
- Clinical variants (ClinVar): 168 total
- MANE Select transcript:
NM_030820
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:17025 |
| Approved symbol | COL21A1 |
| Name | collagen type XXI alpha 1 chain |
| Location | 6p12.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000124749 |
| Ensembl biotype | protein_coding |
| OMIM | 610002 |
| Entrez | 81578 |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 4 protein_coding, 4 protein_coding_CDS_not_defined, 2 retained_intron, 1 nonsense_mediated_decay
ENST00000244728, ENST00000370817, ENST00000370819, ENST00000456983, ENST00000461489, ENST00000467045, ENST00000467216, ENST00000469682, ENST00000482933, ENST00000484987, ENST00000488912
RefSeq mRNA: 5 — MANE Select: NM_030820
NM_001318751, NM_001318752, NM_001318753, NM_001318754, NM_030820
CCDS: CCDS55025, CCDS83099
Canonical transcript exons
ENST00000244728 — 30 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001015717 | 56170649 | 56170865 |
| ENSE00001015720 | 56168124 | 56168297 |
| ENSE00001015725 | 56170960 | 56171128 |
| ENSE00001015727 | 56179578 | 56180129 |
| ENSE00001186177 | 56126096 | 56126149 |
| ENSE00001186180 | 56141785 | 56141838 |
| ENSE00001186183 | 56141930 | 56141983 |
| ENSE00001186185 | 56156887 | 56156949 |
| ENSE00001186188 | 56164423 | 56164506 |
| ENSE00001252208 | 56182531 | 56182656 |
| ENSE00001453702 | 56125567 | 56125620 |
| ENSE00001453704 | 56166906 | 56166983 |
| ENSE00001883254 | 56247387 | 56247580 |
| ENSE00002182546 | 56101472 | 56101525 |
| ENSE00002183966 | 56124239 | 56124292 |
| ENSE00002201601 | 56124062 | 56124115 |
| ENSE00002523383 | 56164814 | 56164822 |
| ENSE00003490886 | 56060741 | 56060795 |
| ENSE00003498814 | 56077529 | 56077573 |
| ENSE00003515612 | 56061649 | 56061681 |
| ENSE00003527705 | 56074232 | 56074285 |
| ENSE00003544866 | 56056590 | 56057844 |
| ENSE00003547541 | 56069046 | 56069117 |
| ENSE00003555927 | 56075479 | 56075532 |
| ENSE00003569606 | 56060891 | 56061037 |
| ENSE00003603143 | 56060018 | 56060218 |
| ENSE00003634065 | 56070745 | 56070798 |
| ENSE00003659162 | 56059165 | 56059242 |
| ENSE00003663651 | 56064578 | 56064622 |
| ENSE00003681764 | 56067295 | 56067330 |
Expression profiles
Bgee: expression breadth ubiquitous, 239 present calls, max score 96.82.
FANTOM5 (CAGE): breadth broad, TPM avg 3.9160 / max 336.6201, expressed in 645 samples.
FANTOM5 promoters (9 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 74061 | 2.8197 | 546 |
| 74059 | 0.4451 | 233 |
| 74060 | 0.3128 | 164 |
| 74056 | 0.1902 | 35 |
| 74063 | 0.0625 | 11 |
| 74055 | 0.0460 | 9 |
| 74064 | 0.0163 | 8 |
| 74062 | 0.0136 | 9 |
| 74065 | 0.0099 | 5 |
Top tissues by expression
277 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| blood vessel layer | UBERON:0004797 | 96.82 | gold quality |
| bronchial epithelial cell | CL:0002328 | 95.76 | gold quality |
| sural nerve | UBERON:0015488 | 95.74 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 95.36 | gold quality |
| ascending aorta | UBERON:0001496 | 94.98 | gold quality |
| thoracic aorta | UBERON:0001515 | 94.98 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 93.43 | gold quality |
| right coronary artery | UBERON:0001625 | 93.11 | gold quality |
| skin of hip | UBERON:0001554 | 93.07 | gold quality |
| epithelium of bronchus | UBERON:0002031 | 93.04 | gold quality |
| periodontal ligament | UBERON:0008266 | 92.98 | gold quality |
| bronchus | UBERON:0002185 | 92.16 | gold quality |
| myocardium | UBERON:0002349 | 91.75 | gold quality |
| seminal vesicle | UBERON:0000998 | 90.42 | gold quality |
| left coronary artery | UBERON:0001626 | 89.95 | gold quality |
| heart left ventricle | UBERON:0002084 | 89.79 | gold quality |
| cardiac ventricle | UBERON:0002082 | 89.76 | gold quality |
| coronary artery | UBERON:0001621 | 89.59 | gold quality |
| placenta | UBERON:0001987 | 89.58 | gold quality |
| tibial nerve | UBERON:0001323 | 89.47 | gold quality |
| upper leg skin | UBERON:0004262 | 89.40 | gold quality |
| heart | UBERON:0000948 | 89.18 | gold quality |
| endocervix | UBERON:0000458 | 89.14 | gold quality |
| heart right ventricle | UBERON:0002080 | 89.11 | gold quality |
| aorta | UBERON:0000947 | 89.06 | gold quality |
| apex of heart | UBERON:0002098 | 88.90 | gold quality |
| calcaneal tendon | UBERON:0003701 | 88.87 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 88.69 | gold quality |
| right uterine tube | UBERON:0001302 | 88.54 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 87.88 | gold quality |
Single-cell (SCXA)
Detected in 5 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-124472 | yes | 745.85 |
| E-HCAD-10 | yes | 59.42 |
| E-MTAB-6701 | yes | 53.06 |
| E-ANND-3 | yes | 8.93 |
| E-MTAB-9543 | no | 1.22 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
87 targeting COL21A1, 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-29A-3P | 100.00 | 73.11 | 1835 |
| HSA-MIR-29B-3P | 100.00 | 73.18 | 1833 |
| HSA-MIR-29C-3P | 100.00 | 73.15 | 1833 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-128-3P | 99.95 | 71.17 | 2484 |
| HSA-MIR-216A-3P | 99.95 | 71.19 | 2505 |
| HSA-MIR-767-5P | 99.95 | 70.85 | 993 |
| HSA-LET-7C-3P | 99.95 | 73.42 | 2862 |
| HSA-MIR-6835-3P | 99.93 | 70.49 | 2904 |
| HSA-MIR-3143 | 99.93 | 71.96 | 3104 |
| HSA-MIR-205-3P | 99.92 | 69.92 | 3165 |
| HSA-MIR-10523-5P | 99.91 | 69.22 | 2038 |
| HSA-MIR-498-3P | 99.91 | 71.27 | 1114 |
| HSA-MIR-3529-3P | 99.90 | 73.55 | 3045 |
| HSA-MIR-548E-5P | 99.89 | 72.73 | 4486 |
| HSA-MIR-5682 | 99.89 | 72.56 | 1005 |
| HSA-MIR-3681-3P | 99.88 | 70.46 | 2254 |
| HSA-MIR-4496 | 99.88 | 68.89 | 2236 |
Literature-anchored findings (GeneRIF, showing 4)
- Extracellular matrix proteins expression profiling in chemoresistant variants of the A2780 ovarian cancer cell line. (PMID:24804215)
- Low copy number of Col21A1 is associated with nonsyndromic cleft lip and/or palate. (PMID:30924295)
- Validating candidate biomarkers for different stages of non-alcoholic fatty liver disease. (PMID:32898995)
- Prognostic significance of abnormal matrix collagen remodeling in colorectal cancer based on histologic and bioinformatics analysis. (PMID:32945508)
Cross-species orthologs
0 orthologs
Paralogs (37): COL9A2 (ENSG00000049089), COL23A1 (ENSG00000050767), COL11A1 (ENSG00000060718), COL17A1 (ENSG00000065618), COL5A3 (ENSG00000080573), COL4A4 (ENSG00000081052), COL16A1 (ENSG00000084636), COL9A3 (ENSG00000092758), COL20A1 (ENSG00000101203), COL1A1 (ENSG00000108821), COL9A1 (ENSG00000112280), COL7A1 (ENSG00000114270), COL5A1 (ENSG00000130635), COL4A2 (ENSG00000134871), COL2A1 (ENSG00000139219), COL6A1 (ENSG00000142156), COL6A2 (ENSG00000142173), EDA (ENSG00000158813), COL26A1 (ENSG00000160963), COL1A2 (ENSG00000164692), COL3A1 (ENSG00000168542), COL4A3 (ENSG00000169031), COL22A1 (ENSG00000169436), COL24A1 (ENSG00000171502), COL18A1 (ENSG00000182871), EMID1 (ENSG00000186998), COL4A1 (ENSG00000187498), COL4A5 (ENSG00000188153), COL25A1 (ENSG00000188517), COL27A1 (ENSG00000196739), COL13A1 (ENSG00000197467), COL4A6 (ENSG00000197565), COL11A2 (ENSG00000204248), COL5A2 (ENSG00000204262), COL15A1 (ENSG00000204291), COLQ (ENSG00000206561), COL28A1 (ENSG00000215018)
Protein
Protein identifiers
Collagen alpha-1(XXI) chain — Q96P44 (reviewed: Q96P44)
All UniProt accessions (5): A0A158RFW1, A6PVD9, Q96P44, H0Y4C9, H0YDH6
UniProt curated annotations — full annotation on UniProt →
Subcellular location. Secreted. Extracellular space. Extracellular matrix. Cytoplasm.
Tissue specificity. Highly expressed in lymph node, jejunum, pancreas, stomach, trachea, testis, uterus and placenta; moderately expressed in brain, colon, lung, prostate, spinal cord, salivary gland and vascular smooth-muscle cells and very weakly expressed in heart, liver, kidney, bone marrow, spleen, thymus, skeletal muscle, adrenal gland and peripheral leukocytes. Expression in heart was higher in the right ventricle and atrium than in the left ventricle and atrium.
Induction. Stimulated by PDGF/platelet-derived growth factor.
Similarity. Belongs to the fibril-associated collagens with interrupted helices (FACIT) family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q96P44-1 | 1 | yes |
| Q96P44-2 | 2 | |
| Q96P44-3 | 3 |
RefSeq proteins (3): NP_001305680, NP_001305681, NP_110447* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002035 | VWF_A | Domain |
| IPR008160 | Collagen | Repeat |
| IPR013320 | ConA-like_dom_sf | Homologous_superfamily |
| IPR036465 | vWFA_dom_sf | Homologous_superfamily |
| IPR048287 | TSPN-like_N | Domain |
| IPR050938 | Collagen_Structural_Proteins | Family |
Pfam: PF00092, PF01391
UniProt features (37 total): domain 9, compositionally biased region 9, sequence variant 7, splice variant 4, sequence conflict 3, region of interest 2, signal peptide 1, chain 1, glycosylation site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96P44-F1 | 68.41 | 0.34 |
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 (1): 62
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-1650814 | Collagen biosynthesis and modifying enzymes |
| R-HSA-8948216 | Collagen chain trimerization |
MSigDB gene sets: 95 (showing top):
WALLACE_PROSTATE_CANCER_RACE_UP, BROWNE_HCMV_INFECTION_8HR_UP, GOCC_COLLAGEN_TRIMER, LUCAS_HNF4A_TARGETS_UP, chr6p12, BLALOCK_ALZHEIMERS_DISEASE_UP, GOMF_EXTRACELLULAR_MATRIX_STRUCTURAL_CONSTITUENT, GOZGIT_ESR1_TARGETS_UP, SCHLOSSER_SERUM_RESPONSE_DN, RIGGI_EWING_SARCOMA_PROGENITOR_UP, GOCC_ENDOPLASMIC_RETICULUM_LUMEN, GOMF_STRUCTURAL_MOLECULE_ACTIVITY, FIGUEROA_AML_METHYLATION_CLUSTER_2_UP, FIGUEROA_AML_METHYLATION_CLUSTER_3_UP, FIGUEROA_AML_METHYLATION_CLUSTER_7_UP
GO Biological Process (0):
GO Molecular Function (1): extracellular matrix structural constituent conferring tensile strength (GO:0030020)
GO Cellular Component (6): extracellular region (GO:0005576), collagen trimer (GO:0005581), endoplasmic reticulum lumen (GO:0005788), cytosol (GO:0005829), extracellular matrix (GO:0031012), cytoplasm (GO:0005737)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Collagen formation | 1 |
| Collagen biosynthesis and modifying enzymes | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| extracellular matrix structural constituent | 1 |
| protein-containing complex | 1 |
| endoplasmic reticulum | 1 |
| intracellular organelle lumen | 1 |
| cytoplasm | 1 |
| external encapsulating structure | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
1074 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| COL21A1 | CNIH1 | O95406 | 599 |
| COL21A1 | CNIH3 | Q8TBE1 | 545 |
| COL21A1 | TFEB | P19484 | 482 |
| COL21A1 | SEC16B | Q96JE7 | 467 |
| COL21A1 | HSPG2 | P98160 | 458 |
| COL21A1 | STK17A | Q9UEE5 | 447 |
| COL21A1 | COL26A1 | Q96A83 | 442 |
| COL21A1 | KHDRBS2 | Q5VWX1 | 409 |
| COL21A1 | ADAMTS14 | Q8WXS8 | 405 |
| COL21A1 | OR7A10 | O76100 | 380 |
| COL21A1 | COL24A1 | Q17RW2 | 380 |
| COL21A1 | CRTAP | O75718 | 375 |
| COL21A1 | P3H1 | Q32P28 | 367 |
| COL21A1 | VWA1 | Q6PCB0 | 359 |
| COL21A1 | ITGBL1 | O95965 | 354 |
IntAct
5 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| COL21A1 | PLOD3 | psi-mi:“MI:0914”(association) | 0.530 |
| COL21A1 | CFTR | psi-mi:“MI:0915”(physical association) | 0.370 |
| COL21A1 | PLOD2 | psi-mi:“MI:0914”(association) | 0.350 |
| C1QTNF1 | PLOD2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (10): COL21A1 (Affinity Capture-MS), COLGALT2 (Affinity Capture-MS), COL14A1 (Affinity Capture-MS), PLOD1 (Affinity Capture-MS), COL4A2 (Affinity Capture-MS), PLOD2 (Affinity Capture-MS), PLOD3 (Affinity Capture-MS), COL21A1 (PCA), COL21A1 (Affinity Capture-MS), COL21A1 (Affinity Capture-RNA)
ESM2 similar proteins: A0A060WQA3, A0MSJ1, A5PN28, A6NHN0, A8WR59, C0HLN2, C7DZK3, O35167, O35348, O76368, O88207, P08122, P08572, P12106, P12107, P12108, P13942, P20849, P20850, P20908, P20909, P25067, P25940, P53420, P83371, P98085, Q01955, Q03637, Q05722, Q07092, Q07643, Q0VF58, Q14031, Q14055, Q14993, Q17RW2, Q28083, Q30D77, Q32S24, Q4ZJM7
Diamond homologs: A2AX52, A6H584, A6NMZ7, A6QLN9, A8TX70, E7FF10, O00339, O08746, O42401, O75578, O89029, P05099, P05555, P11215, P12111, P15989, P20701, P20702, P34576, P51942, P61625, Q02388, Q13349, Q21281, Q21540, Q28902, Q3V0T4, Q63870, Q642A6, Q6PCB0, Q6UXI7, Q8C6K9, Q8NFW1, Q8R2Z5, Q90615, Q91145, Q923P0, Q95LI2, Q96P44, Q9P218
SIGNOR signaling
3 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| COL21A1 | “up-regulates activity” | DDR1 | binding |
| COL21A1 | “up-regulates activity” | DDR2 | binding |
| COL21A1 | “up-regulates activity” | “A2/b1 integrin” | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
168 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 126 |
| Likely benign | 9 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
6378 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:56060152:CCA:C | acceptor_gain | 1.0000 |
| 6:56060153:CA:C | acceptor_gain | 1.0000 |
| 6:56060154:A:C | acceptor_gain | 1.0000 |
| 6:56060890:CGGG:C | donor_gain | 1.0000 |
| 6:56061681:CCTT:C | acceptor_gain | 1.0000 |
| 6:56062761:A:AC | donor_gain | 1.0000 |
| 6:56062762:C:CC | donor_gain | 1.0000 |
| 6:56069117:CCTA:C | acceptor_gain | 1.0000 |
| 6:56074284:CC:C | acceptor_gain | 1.0000 |
| 6:56074285:CC:C | acceptor_gain | 1.0000 |
| 6:56075477:A:AC | donor_gain | 1.0000 |
| 6:56075478:C:CC | donor_gain | 1.0000 |
| 6:56075478:CAGG:C | donor_gain | 1.0000 |
| 6:56075485:C:A | donor_gain | 1.0000 |
| 6:56077525:TTA:T | donor_loss | 1.0000 |
| 6:56077527:A:AC | donor_gain | 1.0000 |
| 6:56077527:AC:A | donor_gain | 1.0000 |
| 6:56077528:C:CA | donor_gain | 1.0000 |
| 6:56077528:CC:C | donor_gain | 1.0000 |
| 6:56077528:CCT:C | donor_gain | 1.0000 |
| 6:56077528:CCTT:C | donor_gain | 1.0000 |
| 6:56077570:TTCC:T | acceptor_gain | 1.0000 |
| 6:56077571:TCC:T | acceptor_gain | 1.0000 |
| 6:56077572:CC:C | acceptor_gain | 1.0000 |
| 6:56077572:CCC:C | acceptor_gain | 1.0000 |
| 6:56077573:CC:C | acceptor_gain | 1.0000 |
| 6:56077574:C:CC | acceptor_gain | 1.0000 |
| 6:56077574:C:T | acceptor_gain | 1.0000 |
| 6:56077574:CTAAA:C | acceptor_loss | 1.0000 |
| 6:56077575:T:A | acceptor_loss | 1.0000 |
AlphaMissense
6107 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:56179670:G:T | A183D | 0.999 |
| 6:56179982:A:T | V79D | 0.999 |
| 6:56180043:A:G | W59R | 0.999 |
| 6:56180043:A:T | W59R | 0.999 |
| 6:56179583:C:G | C212S | 0.998 |
| 6:56179584:A:T | C212S | 0.998 |
| 6:56179718:G:T | A167D | 0.998 |
| 6:56179787:T:A | D144V | 0.998 |
| 6:56179803:C:G | A139P | 0.998 |
| 6:56180084:G:A | S45F | 0.998 |
| 6:56180085:A:G | S45P | 0.998 |
| 6:56180090:T:A | D43V | 0.998 |
| 6:56180091:C:G | D43H | 0.998 |
| 6:56166955:C:T | C410Y | 0.997 |
| 6:56179583:C:T | C212Y | 0.997 |
| 6:56179682:A:G | L179P | 0.997 |
| 6:56179778:G:A | S147F | 0.997 |
| 6:56179793:A:G | L142P | 0.997 |
| 6:56179802:G:T | A139E | 0.997 |
| 6:56179988:C:T | G77E | 0.997 |
| 6:56179989:C:G | G77R | 0.997 |
| 6:56179989:C:T | G77R | 0.997 |
| 6:56180041:C:A | W59C | 0.997 |
| 6:56180041:C:G | W59C | 0.997 |
| 6:56166964:C:G | R407P | 0.996 |
| 6:56170822:A:G | S285P | 0.996 |
| 6:56171119:C:G | C217S | 0.996 |
| 6:56171120:A:G | C217R | 0.996 |
| 6:56171120:A:T | C217S | 0.996 |
| 6:56179584:A:G | C212R | 0.996 |
dbSNP variants (sampled 300 via entrez): RS1000000722 (6:56159366 T>G), RS1000021275 (6:56201542 C>A,T), RS1000024804 (6:56069162 A>C,G), RS1000031319 (6:56373133 G>A), RS1000033085 (6:56158933 T>C), RS1000033859 (6:56095172 T>C), RS1000047398 (6:56221578 A>G), RS1000049151 (6:56136176 C>T), RS1000079701 (6:56252833 C>T), RS1000083856 (6:56290044 T>G), RS1000101154 (6:56168915 T>C), RS1000107778 (6:56211901 C>G), RS1000118222 (6:56264990 C>G), RS1000126049 (6:56352747 A>G), RS1000132962 (6:56379744 A>G)
Disease associations
OMIM: gene MIM:610002 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
19 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002084_8 | Allergic sensitization | 7.000000e-06 |
| GCST002211_2 | Psychosis (atypical) | 2.000000e-07 |
| GCST003518_100 | Daytime sleep phenotypes | 5.000000e-06 |
| GCST003805_2 | Diastolic blood pressure response to hydrochlorothiazide in hypertension | 9.000000e-06 |
| GCST003854_31 | Gut microbiota (functional units) | 2.000000e-08 |
| GCST003998_25 | Joint mobility (Beighton score) | 9.000000e-07 |
| GCST004746_12 | Small cell lung carcinoma | 8.000000e-06 |
| GCST006022_8 | Pulse pressure | 1.000000e-09 |
| GCST006230_10 | Pulse pressure | 5.000000e-08 |
| GCST006979_292 | Heel bone mineral density | 2.000000e-17 |
| GCST007096_251 | Pulse pressure | 4.000000e-19 |
| GCST007205_9 | Schizophrenia | 5.000000e-06 |
| GCST007267_217 | Systolic blood pressure | 3.000000e-09 |
| GCST007268_27 | Diastolic blood pressure | 2.000000e-11 |
| GCST007269_250 | Pulse pressure | 4.000000e-26 |
| GCST007270_1 | Systolic blood pressure | 8.000000e-11 |
| GCST007272_15 | Pulse pressure | 6.000000e-36 |
| GCST007272_5 | Pulse pressure | 2.000000e-14 |
| GCST010989_106 | Body size at age 10 | 6.000000e-09 |
EFO canonical traits (10, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005298 | allergic sensitization measurement |
| EFO:0007828 | daytime rest measurement |
| EFO:0006945 | diastolic blood pressure change measurement |
| EFO:0007874 | gut microbiome measurement |
| EFO:0007905 | joint hypermobility measurement |
| EFO:0005763 | pulse pressure measurement |
| EFO:0009270 | heel bone mineral density |
| EFO:0006335 | systolic blood pressure |
| EFO:0006336 | diastolic blood pressure |
| EFO:0009819 | comparative body size at age 10, self-reported |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
49 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression | 7 |
| trichostatin A | increases expression, affects cotreatment | 3 |
| entinostat | increases expression, affects cotreatment | 2 |
| Nickel | decreases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Silicon Dioxide | decreases expression, increases expression | 2 |
| Cadmium Chloride | increases abundance, increases expression | 2 |
| methylmercuric chloride | decreases expression | 1 |
| bisphenol A | affects methylation | 1 |
| sodium arsenite | increases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| ochratoxin A | increases expression | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | affects cotreatment, increases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | decreases expression, decreases reaction | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| belinostat | increases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| bisphenol S | affects cotreatment, increases expression | 1 |
| incobotulinumtoxinA | increases expression | 1 |
| Resveratrol | increases expression, affects cotreatment | 1 |
| Arsenic Trioxide | affects cotreatment, decreases expression | 1 |
| Vorinostat | increases expression | 1 |
| Panobinostat | affects cotreatment, increases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Arsenic | affects methylation | 1 |
| Benzo(a)pyrene | affects methylation, increases methylation | 1 |
| Cadmium | increases abundance, increases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): psychotic disorder, small cell lung carcinoma