CLGN
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Summary
CLGN (calmegin, HGNC:2060) is a protein-coding gene on chromosome 4q31.1, encoding Calmegin (O14967). Functions during spermatogenesis as a chaperone for a range of client proteins that are important for sperm adhesion onto the egg zona pellucida and for subsequent penetration of the zona pellucida.
Calmegin is a testis-specific endoplasmic reticulum chaperone protein. CLGN may play a role in spermatogeneisis and infertility.
Source: NCBI Gene 1047 — RefSeq curated summary.
At a glance
- GWAS associations: 8
- Clinical variants (ClinVar): 104 total — 6 pathogenic, 1 likely-pathogenic
- Druggable target: yes
- MANE Select transcript:
NM_004362
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:2060 |
| Approved symbol | CLGN |
| Name | calmegin |
| Location | 4q31.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000153132 |
| Ensembl biotype | protein_coding |
| OMIM | 601858 |
| Entrez | 1047 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 10 protein_coding
ENST00000325617, ENST00000414773, ENST00000509477, ENST00000897460, ENST00000931054, ENST00000931055, ENST00000963782, ENST00000963783, ENST00000963784, ENST00000963785
RefSeq mRNA: 2 — MANE Select: NM_004362
NM_001130675, NM_004362
CCDS: CCDS3751
Canonical transcript exons
ENST00000325617 — 15 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001008977 | 140392219 | 140392378 |
| ENSE00001008979 | 140396092 | 140396205 |
| ENSE00001008981 | 140398851 | 140399040 |
| ENSE00001008982 | 140410553 | 140410626 |
| ENSE00001008984 | 140400357 | 140400549 |
| ENSE00001008985 | 140412935 | 140413087 |
| ENSE00001008987 | 140392586 | 140392711 |
| ENSE00001008988 | 140405942 | 140406083 |
| ENSE00001008990 | 140395819 | 140395969 |
| ENSE00001008991 | 140401985 | 140402066 |
| ENSE00001008993 | 140409837 | 140409895 |
| ENSE00001008994 | 140393826 | 140394041 |
| ENSE00001008995 | 140390628 | 140390728 |
| ENSE00002059656 | 140427537 | 140427648 |
| ENSE00003843574 | 140388453 | 140389304 |
Expression profiles
Bgee: expression breadth ubiquitous, 207 present calls, max score 97.25.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.9418 / max 634.6791, expressed in 995 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 54122 | 7.6455 | 964 |
| 54121 | 1.0065 | 381 |
| 54124 | 0.2247 | 78 |
| 54123 | 0.0651 | 13 |
Top tissues by expression
275 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| heart right ventricle | UBERON:0002080 | 97.25 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 95.59 | gold quality |
| myocardium | UBERON:0002349 | 95.45 | gold quality |
| left testis | UBERON:0004533 | 94.79 | gold quality |
| right testis | UBERON:0004534 | 94.50 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 94.34 | gold quality |
| testis | UBERON:0000473 | 93.03 | gold quality |
| cardiac ventricle | UBERON:0002082 | 92.11 | gold quality |
| heart left ventricle | UBERON:0002084 | 92.07 | gold quality |
| cardiac atrium | UBERON:0002081 | 91.92 | gold quality |
| right atrium auricular region | UBERON:0006631 | 91.74 | gold quality |
| endothelial cell | CL:0000115 | 89.58 | gold quality |
| islet of Langerhans | UBERON:0000006 | 89.17 | gold quality |
| apex of heart | UBERON:0002098 | 88.20 | gold quality |
| heart | UBERON:0000948 | 87.60 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 86.38 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 84.19 | gold quality |
| ventricular zone | UBERON:0003053 | 83.34 | gold quality |
| right uterine tube | UBERON:0001302 | 83.02 | gold quality |
| pituitary gland | UBERON:0000007 | 82.36 | gold quality |
| adenohypophysis | UBERON:0002196 | 82.06 | gold quality |
| ganglionic eminence | UBERON:0004023 | 80.14 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 79.59 | gold quality |
| bronchial epithelial cell | CL:0002328 | 79.22 | gold quality |
| prostate gland | UBERON:0002367 | 77.98 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 77.61 | gold quality |
| cerebellar cortex | UBERON:0002129 | 77.60 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 77.55 | gold quality |
| embryo | UBERON:0000922 | 77.23 | gold quality |
| adult organism | UBERON:0007023 | 76.40 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-10287 | yes | 25.16 |
| E-MTAB-6058 | no | 390.67 |
| E-ANND-3 | no | 3.31 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): TCFL5
miRNA regulators (miRDB)
48 targeting CLGN, 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-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-548AE-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-548AH-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AM-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AQ-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-221-3P | 99.86 | 71.56 | 1329 |
| HSA-MIR-222-3P | 99.86 | 71.35 | 1337 |
| HSA-MIR-4503 | 99.85 | 71.45 | 1869 |
| HSA-MIR-4799-5P | 99.82 | 70.60 | 2663 |
| HSA-MIR-4495 | 99.82 | 72.08 | 3080 |
| HSA-MIR-2052 | 99.79 | 69.37 | 2031 |
| HSA-MIR-4766-5P | 99.75 | 69.23 | 2662 |
| HSA-MIR-3059-5P | 99.70 | 69.93 | 2491 |
| HSA-MIR-6892-3P | 99.68 | 66.40 | 1178 |
| HSA-MIR-409-3P | 99.50 | 66.33 | 1192 |
| HSA-MIR-12117 | 99.50 | 67.57 | 868 |
| HSA-MIR-190B-3P | 99.33 | 68.29 | 1382 |
| HSA-MIR-1273H-3P | 99.29 | 67.55 | 980 |
| HSA-MIR-548AS-3P | 99.12 | 69.12 | 2294 |
| HSA-MIR-29A-5P | 99.08 | 68.59 | 1813 |
| HSA-MIR-143-5P | 98.98 | 68.87 | 946 |
| HSA-MIR-3908 | 98.75 | 67.31 | 1160 |
| HSA-MIR-11399 | 98.71 | 65.69 | 869 |
| HSA-MIR-3944-5P | 98.50 | 67.55 | 997 |
| HSA-MIR-4766-3P | 98.48 | 67.94 | 1347 |
| HSA-MIR-6780A-3P | 98.42 | 67.49 | 1518 |
| HSA-MIR-654-3P | 98.38 | 67.61 | 905 |
Literature-anchored findings (GeneRIF, showing 3)
- calmegin expression is regulated by histone deacetylase and CpG methyltransferase in a coordinative way (PMID:16264275)
- Although their similarity in carbohydrate binding specificities is high, there seems to be some differences in the mode of substrate recognition between calmegin and calnexin. (PMID:24769397)
- In gene-based analysis CLGN1 represented one of a cluster of genes, which interacted with sodium to influence Blood Pressure. (PMID:27271309)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | clgn | ENSDARG00000009315 |
| mus_musculus | Clgn | ENSMUSG00000002190 |
| rattus_norvegicus | Clgn | ENSRNOG00000003755 |
| drosophila_melanogaster | Cnx99A | FBGN0015622 |
| drosophila_melanogaster | CG1924 | FBGN0030377 |
| caenorhabditis_elegans | WBGENE00000567 |
Paralogs (3): CANX (ENSG00000127022), CALR (ENSG00000179218), CALR3 (ENSG00000269058)
Protein
Protein identifiers
Calmegin — O14967 (reviewed: O14967)
All UniProt accessions (3): O14967, A0A140VKG2, D6RAZ4
UniProt curated annotations — full annotation on UniProt →
Function. Functions during spermatogenesis as a chaperone for a range of client proteins that are important for sperm adhesion onto the egg zona pellucida and for subsequent penetration of the zona pellucida. Required for normal sperm migration from the uterus into the oviduct. Required for normal male fertility. Binds calcium ions.
Subunit / interactions. Interacts with PPIB. Interacts with ADAM2. Interacts with PDILT.
Subcellular location. Endoplasmic reticulum membrane.
Tissue specificity. Detected in testis (at protein level). Detected in testis.
Similarity. Belongs to the calreticulin family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O14967-1 | 1 | yes |
| O14967-2 | 2 |
RefSeq proteins (2): NP_001124147, NP_004353* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001580 | Calret/calnex | Family |
| IPR009033 | Calreticulin/calnexin_P_dom_sf | Homologous_superfamily |
| IPR013320 | ConA-like_dom_sf | Homologous_superfamily |
| IPR018124 | Calret/calnex_CS | Conserved_site |
Pfam: PF00262
UniProt features (37 total): repeat 8, modified residue 8, compositionally biased region 5, region of interest 3, sequence variant 3, topological domain 2, disulfide bond 2, splice variant 2, signal peptide 1, chain 1, transmembrane region 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O14967-F1 | 76.36 | 0.54 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (8): 128, 560, 576, 579, 581, 591, 594, 601
Disulfide bonds (2): 151–185, 351–355
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 150 (showing top):
GOBP_SINGLE_FERTILIZATION, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, MODULE_169, GOBP_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, PATIL_LIVER_CANCER, GOBP_PROTEIN_MATURATION, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM5, GAZDA_DIAMOND_BLACKFAN_ANEMIA_PROGENITOR_DN, GOBP_SPERM_EGG_RECOGNITION, RIGGI_EWING_SARCOMA_PROGENITOR_DN, MODULE_99, GOBP_PROTEIN_FOLDING, SANSOM_APC_TARGETS_DN, GOBP_PROTEASOMAL_PROTEIN_CATABOLIC_PROCESS
GO Biological Process (5): protein folding (GO:0006457), single fertilization (GO:0007338), binding of sperm to zona pellucida (GO:0007339), ERAD pathway (GO:0036503), protein-containing complex assembly (GO:0065003)
GO Molecular Function (4): calcium ion binding (GO:0005509), protein folding chaperone (GO:0044183), obsolete unfolded protein binding (GO:0051082), protein binding (GO:0005515)
GO Cellular Component (4): nuclear envelope (GO:0005635), endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| endomembrane system | 2 |
| cellular process | 1 |
| protein maturation | 1 |
| fertilization | 1 |
| sperm-egg recognition | 1 |
| proteasomal protein catabolic process | 1 |
| response to endoplasmic reticulum stress | 1 |
| response to chemical | 1 |
| cellular component assembly | 1 |
| protein-containing complex organization | 1 |
| metal ion binding | 1 |
| molecular_function | 1 |
| protein folding | 1 |
| binding | 1 |
| nucleus | 1 |
| organelle envelope | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1713 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CLGN | ADAM2 | P78326 | 962 |
| CLGN | PDILT | Q8N807 | 659 |
| CLGN | IZUMO1 | Q8IYV9 | 559 |
| CLGN | PPIB | P23284 | 548 |
| CLGN | DEFB126 | Q9BYW3 | 486 |
| CLGN | TEX101 | Q9BY14 | 485 |
| CLGN | RNASE10 | Q5GAN6 | 477 |
| CLGN | UGGT1 | Q9NYU2 | 475 |
| CLGN | DCST2 | Q5T1A1 | 472 |
| CLGN | LY6K | Q17RY6 | 451 |
| CLGN | TEKT3 | Q9BXF9 | 447 |
| CLGN | ENKUR | Q8TC29 | 443 |
| CLGN | PRSS37 | A4D1T9 | 436 |
| CLGN | PDIA3 | P30101 | 434 |
| CLGN | PGAP1 | Q75T13 | 411 |
IntAct
234 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TCTN2 | CLGN | psi-mi:“MI:0914”(association) | 0.780 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| B3GNT3 | PGRMC1 | psi-mi:“MI:0914”(association) | 0.670 |
| SLC12A2 | CLGN | psi-mi:“MI:0914”(association) | 0.640 |
| SLC39A5 | FAM171A2 | psi-mi:“MI:0914”(association) | 0.640 |
| CANX | PGRMC1 | psi-mi:“MI:0914”(association) | 0.570 |
| INSR | PIK3R2 | psi-mi:“MI:2364”(proximity) | 0.570 |
| SLC12A4 | CLGN | psi-mi:“MI:0914”(association) | 0.530 |
| TOR1A | CLGN | psi-mi:“MI:0914”(association) | 0.530 |
| TOR1B | CLGN | psi-mi:“MI:0914”(association) | 0.530 |
| IGSF8 | CLGN | psi-mi:“MI:0914”(association) | 0.530 |
| SMPD1 | CLGN | psi-mi:“MI:0914”(association) | 0.530 |
| ATP6AP2 | CLGN | psi-mi:“MI:0914”(association) | 0.530 |
| PIEZO1 | CLGN | psi-mi:“MI:0914”(association) | 0.530 |
| POGLUT1 | CLGN | psi-mi:“MI:0914”(association) | 0.530 |
| TMEM237 | CLGN | psi-mi:“MI:0914”(association) | 0.530 |
| TMTC4 | CLGN | psi-mi:“MI:0914”(association) | 0.530 |
| SCARB2 | CLGN | psi-mi:“MI:0914”(association) | 0.530 |
| GPC3 | CLGN | psi-mi:“MI:0914”(association) | 0.530 |
| SLC22A5 | CLGN | psi-mi:“MI:0914”(association) | 0.530 |
| MBTPS1 | CLGN | psi-mi:“MI:0914”(association) | 0.530 |
| GALNS | CLGN | psi-mi:“MI:0914”(association) | 0.530 |
| CLGN | NPC1 | psi-mi:“MI:0914”(association) | 0.530 |
| OGFOD3 | CLGN | psi-mi:“MI:0914”(association) | 0.530 |
| NCEH1 | CLGN | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (350): CLGN (Affinity Capture-MS), CLGN (Affinity Capture-MS), CLGN (Affinity Capture-MS), CLGN (Affinity Capture-MS), CLGN (Affinity Capture-MS), ABCC1 (Co-fractionation), CALU (Co-fractionation), CLGN (Co-fractionation), CLGN (Co-fractionation), CLGN (Co-fractionation), CLGN (Co-fractionation), CLGN (Co-fractionation), CLGN (Co-fractionation), CLGN (Co-fractionation), CLGN (Co-fractionation)
ESM2 similar proteins: A0A0D1C6P2, A8XA40, D4AVD4, E2RA18, J9VLH0, O04151, O04153, O14967, O18750, O81919, O82709, P08110, P11012, P14625, P24643, P27798, P27824, P29402, P29413, P34652, P35564, P35565, P36581, P41148, P52194, P83003, P93508, Q06814, Q23858, Q29092, Q2TBR8, Q38798, Q38858, Q39817, Q39994, Q3SYT6, Q40401, Q4R520, Q5R440, Q5R6F7
Diamond homologs: A0A0D1C6P2, A8XA40, D4AVD4, E2RA18, J9VLH0, O04151, O04153, O14967, O81919, O82709, P11012, P14211, P15253, P18418, P24643, P27797, P27798, P27824, P27825, P28491, P29402, P29413, P34652, P35564, P35565, P36581, P52193, P52194, P83003, P93508, Q06814, Q23858, Q2HWU3, Q2TBR8, Q38798, Q38858, Q39817, Q39994, Q3SYT6, Q40401
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 221 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Glycosphingolipid metabolism | 7 | 13.8× | 1e-04 |
| HS-GAG biosynthesis | 5 | 11.3× | 6e-03 |
| Glycosaminoglycan metabolism | 7 | 10.1× | 6e-04 |
| Sphingolipid metabolism | 7 | 7.7× | 3e-03 |
| R-HSA-425393 | 9 | 7.6× | 4e-04 |
| Metabolism of carbohydrates and carbohydrate derivatives | 9 | 7.1× | 6e-04 |
| SLC-mediated transmembrane transport | 16 | 6.2× | 4e-06 |
| Transport of small molecules | 21 | 3.5× | 1e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
104 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 6 |
| Likely pathogenic | 1 |
| Uncertain significance | 84 |
| Likely benign | 4 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (7)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1340411 | GRCh37/hg19 4q28.3-31.21(chr4:136529470-141564812)x1 | Pathogenic |
| 3062804 | GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3 | Pathogenic |
| 3391884 | GRCh37/hg19 4q28.3-31.21(chr4:137222514-142805472)x1 | Pathogenic |
| 3391885 | GRCh37/hg19 4q28.3-31.21(chr4:137942896-145815498)x1 | Pathogenic |
| 4682609 | GRCh37/hg19 4q28.3-31.21(chr4:134952803-144712496)x1 | Pathogenic |
| 814609 | GRCh37/hg19 4q28.3-31.21(chr4:137901978-141527647)x1 | Pathogenic |
| 599571 | NM_004362.3(CLGN):c.959A>G (p.Lys320Arg) | Likely pathogenic |
SpliceAI
2482 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 4:140390649:A:AC | donor_gain | 1.0000 |
| 4:140390650:T:C | donor_gain | 1.0000 |
| 4:140390665:T:A | donor_gain | 1.0000 |
| 4:140390726:CTT:C | acceptor_gain | 1.0000 |
| 4:140390729:C:CC | acceptor_gain | 1.0000 |
| 4:140390743:T:C | acceptor_gain | 1.0000 |
| 4:140390743:T:TC | acceptor_gain | 1.0000 |
| 4:140390746:T:C | acceptor_gain | 1.0000 |
| 4:140390746:T:TC | acceptor_gain | 1.0000 |
| 4:140392214:CTTAC:C | donor_loss | 1.0000 |
| 4:140392215:TTAC:T | donor_loss | 1.0000 |
| 4:140392217:A:T | donor_loss | 1.0000 |
| 4:140392218:C:A | donor_loss | 1.0000 |
| 4:140393890:T:TA | donor_gain | 1.0000 |
| 4:140394040:CC:C | acceptor_gain | 1.0000 |
| 4:140394041:CC:C | acceptor_gain | 1.0000 |
| 4:140394042:C:CA | acceptor_loss | 1.0000 |
| 4:140394043:T:G | acceptor_loss | 1.0000 |
| 4:140395813:TGTTA:T | donor_loss | 1.0000 |
| 4:140395814:GTTAC:G | donor_loss | 1.0000 |
| 4:140395815:TTAC:T | donor_loss | 1.0000 |
| 4:140395816:TA:T | donor_loss | 1.0000 |
| 4:140395817:A:AT | donor_loss | 1.0000 |
| 4:140395818:C:G | donor_loss | 1.0000 |
| 4:140395965:CATTC:C | acceptor_gain | 1.0000 |
| 4:140395967:TTC:T | acceptor_gain | 1.0000 |
| 4:140395971:T:C | acceptor_gain | 1.0000 |
| 4:140395971:T:TC | acceptor_gain | 1.0000 |
| 4:140395976:A:AC | acceptor_gain | 1.0000 |
| 4:140395976:A:C | acceptor_gain | 1.0000 |
AlphaMissense
4098 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 4:140394035:A:G | W386R | 0.993 |
| 4:140394035:A:T | W386R | 0.993 |
| 4:140398901:C:A | W278C | 0.991 |
| 4:140398901:C:G | W278C | 0.991 |
| 4:140398903:A:G | W278R | 0.991 |
| 4:140398903:A:T | W278R | 0.991 |
| 4:140402015:T:A | K157N | 0.991 |
| 4:140402015:T:G | K157N | 0.991 |
| 4:140394033:C:A | W386C | 0.990 |
| 4:140394033:C:G | W386C | 0.990 |
| 4:140395854:A:G | W372R | 0.990 |
| 4:140395854:A:T | W372R | 0.990 |
| 4:140395894:C:A | W358C | 0.990 |
| 4:140395894:C:G | W358C | 0.990 |
| 4:140396150:A:G | W314R | 0.990 |
| 4:140396150:A:T | W314R | 0.990 |
| 4:140406078:A:G | W95R | 0.990 |
| 4:140406078:A:T | W95R | 0.990 |
| 4:140395916:C:G | C351S | 0.989 |
| 4:140395917:A:T | C351S | 0.989 |
| 4:140396148:C:A | W314C | 0.989 |
| 4:140396148:C:G | W314C | 0.989 |
| 4:140400359:A:G | L231P | 0.989 |
| 4:140406000:C:G | A121P | 0.989 |
| 4:140395896:A:G | W358R | 0.988 |
| 4:140395896:A:T | W358R | 0.988 |
| 4:140395904:C:G | C355S | 0.988 |
| 4:140395905:A:T | C355S | 0.988 |
| 4:140393947:A:G | L415P | 0.987 |
| 4:140400511:A:C | F180L | 0.987 |
dbSNP variants (sampled 300 via entrez): RS1000180732 (4:140413150 T>C), RS1000270046 (4:140405372 G>T), RS1000359321 (4:140424198 T>G), RS1000374276 (4:140423780 T>C), RS1000374823 (4:140413363 C>G,T), RS1000594790 (4:140392730 T>C), RS1000633192 (4:140408239 C>T), RS1000652122 (4:140425774 G>A), RS1000709153 (4:140406759 G>A), RS1000794498 (4:140395126 A>G), RS1000878125 (4:140425589 A>G), RS1000929731 (4:140419032 G>C), RS1001107324 (4:140401596 A>C), RS10011171 (4:140420114 C>A,T), RS10012138 (4:140421979 A>C,G)
Disease associations
OMIM: gene MIM:601858 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
8 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000083_5 | Select biomarker traits | 1.000000e-06 |
| GCST006111_1 | Diastolic blood pressure x sodium interaction (2df test) | 3.000000e-22 |
| GCST006113_1 | Systolic blood pressure x sodium interaction (2df test) | 4.000000e-12 |
| GCST006114_1 | Mean arterial pressure x sodium interaction (2df test) | 3.000000e-15 |
| GCST010725_4 | Malaria | 4.000000e-10 |
| GCST010725_84 | Malaria | 7.000000e-11 |
| GCST010725_89 | Malaria | 7.000000e-11 |
| GCST011742_48 | Triglyceride levels in HIV infection | 4.000000e-06 |
EFO canonical traits (6, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004570 | bilirubin measurement |
| EFO:0006336 | diastolic blood pressure |
| EFO:0009282 | sodium measurement |
| EFO:0006335 | systolic blood pressure |
| EFO:0006340 | mean arterial pressure |
| EFO:0004530 | triglyceride measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4295653 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
88 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, increases expression | 4 |
| Cyclosporine | increases expression | 4 |
| bisphenol A | affects expression, increases expression | 3 |
| trichostatin A | affects cotreatment, decreases expression, increases expression | 3 |
| sodium arsenite | affects cotreatment, decreases expression, increases abundance, increases expression | 2 |
| perfluorooctane sulfonic acid | decreases expression, increases expression | 2 |
| (+)-JQ1 compound | increases expression | 2 |
| Vorinostat | decreases expression, increases expression, affects cotreatment | 2 |
| Panobinostat | affects cotreatment, decreases expression | 2 |
| Air Pollutants | increases abundance, increases expression, decreases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| Tretinoin | decreases expression | 2 |
| 8-Bromo Cyclic Adenosine Monophosphate | increases expression | 2 |
| Particulate Matter | increases abundance, increases expression, decreases expression | 2 |
| dicrotophos | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| 3,4-dichloroaniline | increases expression | 1 |
| sulforaphane | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| butyraldehyde | increases expression | 1 |
| perfluorooctanoic acid | increases expression | 1 |
| manganese chloride | decreases expression, increases abundance, affects cotreatment | 1 |
| potassium chromate(VI) | increases expression | 1 |
| bicalutamide | increases expression | 1 |
| 2,3-dimethoxy-1,4-naphthoquinone | decreases expression | 1 |
| perfluoro-n-nonanoic acid | increases expression | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| entinostat | increases expression | 1 |
| K 7174 | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL4118299 | Binding | Inhibition of AurA in human SKCO1 cells at 1 uM after 4 hrs using biotin labeled GKFGNVYLAR probe by mass-spectrometric analysis relative to control | Studies of TAK1-centered polypharmacology with novel covalent TAK1 inhibitors. — Bioorg Med Chem |
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.