TTLL11
geneOn this page
Also known as bA244O19.1
Summary
TTLL11 (tubulin tyrosine ligase like 11, HGNC:18113) is a protein-coding gene on chromosome 9q33.2, encoding Tubulin polyglutamylase TTLL11 (Q8NHH1). Polyglutamylase which modifies tubulin, generating polyglutamate side chains of variable lengths on the gamma-carboxyl group of specific glutamate residues within the C-terminal tail of tubulin.
Predicted to enable tubulin binding activity and tubulin-glutamic acid ligase activity. Predicted to be involved in microtubule cytoskeleton organization. Predicted to act upstream of or within microtubule severing and protein polyglutamylation. Predicted to be located in cytosol. Predicted to be active in ciliary basal body.
Source: NCBI Gene 158135 — RefSeq curated summary.
At a glance
- GWAS associations: 14
- Clinical variants (ClinVar): 117 total
- MANE Select transcript:
NM_001139442
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:18113 |
| Approved symbol | TTLL11 |
| Name | tubulin tyrosine ligase like 11 |
| Location | 9q33.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | bA244O19.1 |
| Ensembl gene | ENSG00000175764 |
| Ensembl biotype | protein_coding |
| OMIM | 620694 |
| Entrez | 158135 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 5 protein_coding, 3 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay
ENST00000321582, ENST00000373776, ENST00000373778, ENST00000411790, ENST00000474723, ENST00000486362, ENST00000487468, ENST00000685478, ENST00000687938, ENST00000882246
RefSeq mRNA: 4 — MANE Select: NM_001139442
NM_001139442, NM_001386831, NM_001386833, NM_194252
CCDS: CCDS48012, CCDS6834
Canonical transcript exons
ENST00000321582 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001725722 | 122031723 | 122031856 |
| ENSE00001729651 | 121815674 | 121822879 |
| ENSE00003558395 | 121989195 | 121989770 |
| ENSE00003559221 | 121974884 | 121974979 |
| ENSE00003562868 | 121860337 | 121860443 |
| ENSE00003621013 | 121870497 | 121870748 |
| ENSE00003656625 | 121974009 | 121974124 |
| ENSE00003729403 | 122039272 | 122039368 |
| ENSE00003918396 | 122092687 | 122093308 |
Expression profiles
Bgee: expression breadth ubiquitous, 176 present calls, max score 89.98.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.0370 / max 200.4495, expressed in 1697 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 102376 | 6.5256 | 1615 |
| 102377 | 1.0503 | 628 |
| 102373 | 0.2327 | 82 |
| 102372 | 0.1818 | 88 |
| 102371 | 0.0333 | 15 |
| 102370 | 0.0133 | 5 |
Top tissues by expression
249 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| C1 segment of cervical spinal cord | UBERON:0006469 | 89.98 | gold quality |
| tibialis anterior | UBERON:0001385 | 87.26 | silver quality |
| spinal cord | UBERON:0002240 | 87.06 | gold quality |
| muscle of leg | UBERON:0001383 | 85.25 | gold quality |
| gastrocnemius | UBERON:0001388 | 85.11 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 84.32 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 83.65 | gold quality |
| popliteal artery | UBERON:0002250 | 82.89 | gold quality |
| tibial artery | UBERON:0007610 | 82.86 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 82.64 | gold quality |
| aorta | UBERON:0000947 | 82.45 | gold quality |
| thoracic aorta | UBERON:0001515 | 82.28 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 82.26 | gold quality |
| ascending aorta | UBERON:0001496 | 82.18 | gold quality |
| prefrontal cortex | UBERON:0000451 | 82.05 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 81.94 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 81.78 | gold quality |
| lower esophagus | UBERON:0013473 | 81.75 | gold quality |
| right coronary artery | UBERON:0001625 | 81.36 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 81.06 | gold quality |
| cortical plate | UBERON:0005343 | 80.77 | gold quality |
| left testis | UBERON:0004533 | 79.87 | gold quality |
| left coronary artery | UBERON:0001626 | 79.39 | gold quality |
| right testis | UBERON:0004534 | 78.85 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 78.31 | gold quality |
| right frontal lobe | UBERON:0002810 | 78.28 | gold quality |
| cerebellar cortex | UBERON:0002129 | 78.18 | gold quality |
| mucosa of stomach | UBERON:0001199 | 78.16 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 78.07 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 78.00 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 3.30 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
27 targeting TTLL11, 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-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-103A-3P | 99.98 | 69.14 | 1595 |
| HSA-MIR-107 | 99.98 | 69.14 | 1595 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-3682-5P | 99.93 | 67.97 | 1163 |
| HSA-MIR-6715A-3P | 99.83 | 68.05 | 1473 |
| HSA-MIR-4649-3P | 99.56 | 66.90 | 1783 |
| HSA-MIR-7162-5P | 99.46 | 68.08 | 1368 |
| HSA-MIR-516A-3P | 99.46 | 67.96 | 1378 |
| HSA-MIR-516B-3P | 99.46 | 67.96 | 1378 |
| HSA-MIR-5589-3P | 99.29 | 68.30 | 1443 |
| HSA-MIR-4758-3P | 99.12 | 63.96 | 869 |
| HSA-MIR-655-5P | 98.74 | 65.93 | 888 |
| HSA-MIR-7158-3P | 98.46 | 66.45 | 728 |
| HSA-MIR-4733-3P | 98.35 | 65.20 | 994 |
| HSA-MIR-6773-3P | 98.17 | 65.51 | 1213 |
| HSA-MIR-4294 | 97.86 | 65.72 | 1110 |
| HSA-MIR-665 | 97.60 | 65.64 | 1781 |
| HSA-MIR-3189-5P | 97.55 | 66.71 | 655 |
| HSA-MIR-1226-3P | 97.51 | 66.32 | 1063 |
| HSA-MIR-5699-5P | 97.36 | 67.03 | 1014 |
| HSA-MIR-2467-5P | 97.36 | 67.71 | 991 |
| HSA-MIR-7976 | 95.75 | 65.67 | 1186 |
| HSA-MIR-24-1-5P | 95.57 | 65.85 | 492 |
| HSA-MIR-24-2-5P | 95.57 | 66.16 | 484 |
| HSA-MIR-638 | 83.93 | 64.46 | 66 |
Literature-anchored findings (GeneRIF, showing 2)
- Genetic variant of TTLL11 gene and subsequent ciliary defects are associated with idiopathic scoliosis in a 5-generation UK family. (PMID:34040021)
- TTLL11 gene is associated with sustained attention performance and brain networks: A genome-wide association study of a healthy Chinese sample. (PMID:36511133)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ttll11 | ENSDARG00000060374 |
| mus_musculus | Ttll11 | ENSMUSG00000026885 |
| rattus_norvegicus | Ttll11 | ENSRNOG00000019339 |
| caenorhabditis_elegans | WBGENE00019230 |
Paralogs (12): TTLL1 (ENSG00000100271), TTLL12 (ENSG00000100304), TTLL2 (ENSG00000120440), TTLL9 (ENSG00000131044), TTLL4 (ENSG00000135912), TTLL7 (ENSG00000137941), TTLL8 (ENSG00000138892), TTLL10 (ENSG00000162571), TTLL6 (ENSG00000170703), KPRP (ENSG00000203786), TTLL13 (ENSG00000213471), TTLL3 (ENSG00000214021)
Protein
Protein identifiers
Tubulin polyglutamylase TTLL11 — Q8NHH1 (reviewed: Q8NHH1)
Alternative names: Tubulin–tyrosine ligase-like protein 11
All UniProt accessions (5): Q8NHH1, A0A087WU58, A0A087WUG8, A0A087WVF6, A0AA75MRL2
UniProt curated annotations — full annotation on UniProt →
Function. Polyglutamylase which modifies tubulin, generating polyglutamate side chains of variable lengths on the gamma-carboxyl group of specific glutamate residues within the C-terminal tail of tubulin. Preferentially mediates ATP-dependent polyglutamate long side-chain elongation over the initiation step of the polyglutamylation reaction. Preferentially modifies the alpha-tubulin tail over a beta-tail. Required for CCSAP localization to both spindle and cilia microtubules. Promotes tubulin polyglutamylation which stimulates spastin/SPAST-mediated microtubule severing, thereby regulating microtubule functions.
Subcellular location. Cytoplasm. Cytoskeleton. Cilium basal body.
Domain organisation. The flexible c-MTBD (cationic microtubule binding domain) region mediates binding to microtubules. It is positively charged and becomes ordered when bound to microtubules: it interacts with a negatively charged patch on tubulin. The presence of positive charges in the c-MTBD region is essential for proper binding. Gln-345 is the main determinant for regioselectivity, which segregates between initiases and elongases in all tubulin–tyrosine ligase family. A glutamine residue at this position is found in elongases TTLL6, TTLL9, TTLL11, TTLL13, TTLL10 and favors glutamate-chain elongation, whereas an arginine residue is found in initiases TTLL2, TTLL4, TTLL5, TTLL3, TTLL8 and favors initiation.
Similarity. Belongs to the tubulin–tyrosine ligase family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8NHH1-1 | 1 | yes |
| Q8NHH1-2 | 2 |
RefSeq proteins (3): NP_001132914, NP_001373760, NP_919228 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR004344 | TTL/TTLL_fam | Family |
Pfam: PF03133
Catalyzed reactions (Rhea), 2 shown:
- L-glutamyl-[protein] + L-glutamate + ATP = gamma-L-glutamyl-L-glutamyl-[protein] + ADP + phosphate + H(+) (RHEA:60144)
- (L-glutamyl)(n)-gamma-L-glutamyl-L-glutamyl-[protein] + L-glutamate + ATP = (L-glutamyl)(n+1)-gamma-L-glutamyl-L-glutamyl-[protein] + ADP + phosphate + H(+) (RHEA:60148)
UniProt features (28 total): binding site 15, compositionally biased region 4, region of interest 3, splice variant 2, chain 1, domain 1, site 1, mutagenesis site 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9HQ4 | ELECTRON MICROSCOPY | 3.28 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8NHH1-F1 | 78.04 | 0.55 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (1): 255 (essential for specifying alpha-elongation versus initiation step of the polyglutamylase activity)
Ligand- & substrate-binding residues (15): 255–256; 255; 282–285; 295–297; 321; 343–344; 345; 346; 365; 428; 441; 441 …
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 488–491 | decreased binding to microtubules and polyglutamylase activity; when associated with e-326 and e-329. |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-8955332 | Carboxyterminal post-translational modifications of tubulin |
MSigDB gene sets: 88 (showing top):
GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_UP, GSE45365_NK_CELL_VS_CD8A_DC_UP, DARWICHE_SKIN_TUMOR_PROMOTER_UP, DARWICHE_PAPILLOMA_RISK_LOW_DN, DARWICHE_PAPILLOMA_RISK_HIGH_DN, DARWICHE_SQUAMOUS_CELL_CARCINOMA_UP, GOCC_MICROTUBULE_ORGANIZING_CENTER, RICKMAN_TUMOR_DIFFERENTIATED_WELL_VS_POORLY_DN, GGARNTKYCCA_UNKNOWN, GOBP_PEPTIDYL_GLUTAMIC_ACID_MODIFICATION, GOMF_LIGASE_ACTIVITY_FORMING_CARBON_NITROGEN_BONDS, GOMF_ACID_AMINO_ACID_LIGASE_ACTIVITY, YY1_01, GCCATNTTG_YY1_Q6, GOCC_CILIUM
GO Biological Process (3): microtubule cytoskeleton organization (GO:0000226), microtubule severing (GO:0051013), protein modification process (GO:0036211)
GO Molecular Function (8): ATP binding (GO:0005524), tubulin binding (GO:0015631), metal ion binding (GO:0046872), tubulin-glutamic acid ligase activity (GO:0070740), protein-glutamic acid ligase activity, initiating (GO:0106437), protein-glutamic acid ligase activity, elongating (GO:0106438), nucleotide binding (GO:0000166), ligase activity (GO:0016874)
GO Cellular Component (7): cytosol (GO:0005829), microtubule (GO:0005874), ciliary basal body (GO:0036064), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), cilium (GO:0005929), cell projection (GO:0042995)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Post-translational protein modification | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| protein-glutamic acid ligase activity | 3 |
| cellular anatomical structure | 3 |
| cytoskeleton organization | 1 |
| microtubule-based process | 1 |
| microtubule cytoskeleton organization | 1 |
| protein metabolic process | 1 |
| macromolecule modification | 1 |
| adenyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| cytoskeletal protein binding | 1 |
| cation binding | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| catalytic activity | 1 |
| cytoplasm | 1 |
| microtubule cytoskeleton | 1 |
| polymeric cytoskeletal fiber | 1 |
| microtubule organizing center | 1 |
| cilium | 1 |
| intracellular anatomical structure | 1 |
| intracellular membraneless organelle | 1 |
| intraciliary transport particle | 1 |
| membrane-bounded organelle | 1 |
| plasma membrane bounded cell projection | 1 |
Protein interactions and networks
STRING
552 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TTLL11 | TTLL12 | Q14166 | 664 |
| TTLL11 | LCN9 | Q8WX39 | 534 |
| TTLL11 | TTLL5 | Q6EMB2 | 532 |
| TTLL11 | ZSCAN20 | P17040 | 509 |
| TTLL11 | Q5T8A5 | Q5T8A5 | 508 |
| TTLL11 | TTLL1 | O95922 | 483 |
| TTLL11 | TRMT10B | Q6PF06 | 483 |
| TTLL11 | SPAST | Q9UBP0 | 476 |
| TTLL11 | ZNF362 | Q5T0B9 | 476 |
| TTLL11 | AGBL5 | Q8NDL9 | 474 |
| TTLL11 | SACK1E | Q2M2I3 | 465 |
| TTLL11 | DAB2IP | Q5VWQ8 | 462 |
| TTLL11 | TTLL9 | Q3SXZ7 | 462 |
| TTLL11 | POC5 | Q8NA72 | 456 |
| TTLL11 | PSMD5 | Q16401 | 455 |
| TTLL11 | TMEM214 | Q6NUQ4 | 455 |
IntAct
6 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TTLL11 | Dlg4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| HSCB | RBP5 | psi-mi:“MI:0914”(association) | 0.350 |
| MAPT | SHTN1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (7): TTLL11 (Affinity Capture-RNA), TTLL11 (Affinity Capture-RNA), TTLL11 (Affinity Capture-RNA), TTLL11 (Affinity Capture-MS), TTLL11 (Affinity Capture-MS), TTLL11 (Affinity Capture-MS), TTLL11 (Affinity Capture-MS)
ESM2 similar proteins: A4FUF0, A4Q9F4, D2XV59, E1C1R4, O94888, O95267, P42694, P54198, P79987, Q15139, Q49A26, Q4R8V9, Q4SS66, Q562D5, Q5R372, Q5R5M3, Q5R7T2, Q5RDU9, Q5REY7, Q5RKH0, Q5RKN4, Q5T6S3, Q5ZIA0, Q5ZJ17, Q5ZLS2, Q5ZLS7, Q61666, Q62101, Q6DC64, Q6DFV5, Q6P5G6, Q6ZPY2, Q6ZWH5, Q70Z35, Q75Q39, Q80VL1, Q86W50, Q8BY87, Q8BYN5, Q8CIW5
Diamond homologs: A2APC3, A4Q9E4, A4Q9E5, A4Q9E8, A4Q9F0, A4Q9F1, A4Q9F4, A4Q9F6, A6NNM8, A6PVC2, A8CVX7, A8X9V4, B2GUB3, E9P886, F7E540, H2KZM9, O95922, P38160, P38584, Q09647, Q0VC71, Q14679, Q1ECV4, Q23AS2, Q23K29, Q23MT7, Q23SI8, Q3SXZ7, Q3SZH6, Q564U4, Q5PPI9, Q5R978, Q641W7, Q6EEF3, Q6EMB2, Q6ZT98, Q80UG8, Q8CHB8, Q8N841, Q8NG68
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
117 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 105 |
| Likely benign | 5 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2721 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 9:121822875:CATCC:C | acceptor_gain | 1.0000 |
| 9:121870493:TGA:T | donor_loss | 1.0000 |
| 9:121870494:GAC:G | donor_loss | 1.0000 |
| 9:121870495:A:AT | donor_loss | 1.0000 |
| 9:121870576:T:TA | donor_gain | 1.0000 |
| 9:121870746:GAC:G | acceptor_gain | 1.0000 |
| 9:121870746:GACCT:G | acceptor_gain | 1.0000 |
| 9:121870747:ACCTG:A | acceptor_gain | 1.0000 |
| 9:121870749:C:CC | acceptor_gain | 1.0000 |
| 9:121870750:T:C | acceptor_loss | 1.0000 |
| 9:121974007:A:AC | donor_gain | 1.0000 |
| 9:121974008:C:CT | donor_gain | 1.0000 |
| 9:121974008:CT:C | donor_gain | 1.0000 |
| 9:121974008:CTG:C | donor_gain | 1.0000 |
| 9:121974008:CTGA:C | donor_gain | 1.0000 |
| 9:121989769:ACCT:A | acceptor_loss | 1.0000 |
| 9:121989772:T:G | acceptor_loss | 1.0000 |
| 9:122031718:TCTAC:T | donor_loss | 1.0000 |
| 9:122031719:CTA:C | donor_loss | 1.0000 |
| 9:122031720:TAC:T | donor_loss | 1.0000 |
| 9:122031721:AC:A | donor_loss | 1.0000 |
| 9:122031722:C:CA | donor_loss | 1.0000 |
| 9:122031857:C:CC | acceptor_gain | 1.0000 |
| 9:122039273:TGGAA:T | donor_gain | 1.0000 |
| 9:122092681:CCTCA:C | donor_loss | 1.0000 |
| 9:122092682:CTCA:C | donor_loss | 1.0000 |
| 9:122092683:TCA:T | donor_loss | 1.0000 |
| 9:122092684:CAC:C | donor_loss | 1.0000 |
| 9:122092685:A:AG | donor_loss | 1.0000 |
| 9:122092685:ACCT:A | donor_gain | 1.0000 |
AlphaMissense
5237 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 9:121974048:A:G | L571P | 1.000 |
| 9:121974054:T:A | D569V | 1.000 |
| 9:121974966:T:A | D518V | 1.000 |
| 9:121974966:T:G | D518A | 1.000 |
| 9:121989369:T:A | K455N | 1.000 |
| 9:121989369:T:G | K455N | 1.000 |
| 9:121989432:G:C | N434K | 1.000 |
| 9:121989432:G:T | N434K | 1.000 |
| 9:121989495:A:C | C413W | 1.000 |
| 9:121989622:A:T | V371D | 1.000 |
| 9:122039282:G:C | N273K | 1.000 |
| 9:122039282:G:T | N273K | 1.000 |
| 9:122039332:A:G | W257R | 1.000 |
| 9:122039332:A:T | W257R | 1.000 |
| 9:122092695:A:G | W242R | 1.000 |
| 9:122092695:A:T | W242R | 1.000 |
| 9:122092721:A:G | L233P | 1.000 |
| 9:121870509:C:G | R664P | 0.999 |
| 9:121870510:G:T | R664S | 0.999 |
| 9:121870635:A:G | L622P | 0.999 |
| 9:121870635:A:T | L622H | 0.999 |
| 9:121974055:C:G | D569H | 0.999 |
| 9:121974071:T:A | K563N | 0.999 |
| 9:121974071:T:G | K563N | 0.999 |
| 9:121974912:G:T | P536H | 0.999 |
| 9:121974927:T:A | E531V | 0.999 |
| 9:121974960:A:G | L520P | 0.999 |
| 9:121974965:G:C | D518E | 0.999 |
| 9:121974965:G:T | D518E | 0.999 |
| 9:121974966:T:C | D518G | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000006713 (9:121856506 T>A), RS1000009527 (9:122057781 G>A,C), RS1000011735 (9:121843935 A>G), RS1000015114 (9:122082456 A>G), RS1000037547 (9:121889579 T>C), RS1000054477 (9:121850622 T>C), RS1000054713 (9:121884343 C>T), RS1000076913 (9:121927297 T>C), RS1000092212 (9:121968679 C>G,T), RS1000101404 (9:121897672 G>C), RS1000107773 (9:122009686 AT>A), RS1000108070 (9:121884541 G>A,C), RS1000119492 (9:121838941 C>T), RS1000127784 (9:121850849 C>T), RS1000137972 (9:121984741 A>G)
Disease associations
OMIM: gene MIM:620694 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
14 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001588_11 | Periodontal microbiota | 5.000000e-07 |
| GCST005141_67 | Cognitive ability (MTAG) | 7.000000e-09 |
| GCST005246_6 | Inhibitory control | 3.000000e-06 |
| GCST005316_63 | Intelligence (MTAG) | 3.000000e-09 |
| GCST008338_2 | Blood cell traits (multivariate analysis) | 3.000000e-08 |
| GCST008595_136 | Cognitive ability, years of educational attainment or schizophrenia (pleiotropy) | 2.000000e-09 |
| GCST009524_297 | Household income (MTAG) | 1.000000e-09 |
| GCST009524_34 | Household income (MTAG) | 5.000000e-10 |
| GCST009524_68 | Household income (MTAG) | 1.000000e-10 |
| GCST010725_17 | Malaria | 5.000000e-06 |
| GCST010725_29 | Malaria | 1.000000e-06 |
| GCST010725_96 | Malaria | 9.000000e-07 |
| GCST010988_406 | Adult body size | 2.000000e-09 |
| GCST90000047_200 | Age at first sexual intercourse | 4.000000e-08 |
EFO canonical traits (12, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004337 | intelligence |
| EFO:0004784 | self reported educational attainment |
| EFO:0008467 | behavioural inhibitory control measurement |
| EFO:0004305 | erythrocyte count |
| EFO:0004309 | platelet count |
| EFO:0004528 | mean corpuscular hemoglobin concentration |
| EFO:0004833 | neutrophil count |
| EFO:0004842 | eosinophil count |
| EFO:0005090 | basophil count |
| EFO:0005091 | monocyte count |
| EFO:0009695 | household income |
| EFO:0009749 | age at first sexual intercourse measurement |
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 | affects cotreatment, increases expression, affects expression | 5 |
| bisphenol A | affects cotreatment, decreases methylation, decreases expression | 2 |
| sodium arsenite | affects cotreatment, increases abundance, increases expression | 2 |
| Cyclosporine | decreases expression, increases expression | 2 |
| bisphenol F | affects cotreatment, decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| ethyl-p-hydroxybenzoate | increases expression | 1 |
| manganese chloride | increases expression, affects cotreatment, increases abundance | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| perfluoro-n-nonanoic acid | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| dorsomorphin | increases expression, affects cotreatment | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Fulvestrant | decreases methylation, affects cotreatment | 1 |
| Acetaminophen | increases expression | 1 |
| Arsenic | increases abundance, increases expression, affects cotreatment | 1 |
| Cisplatin | affects cotreatment, decreases expression | 1 |
| Copper | affects cotreatment, decreases expression | 1 |
| Dexamethasone | decreases expression, affects cotreatment | 1 |
| Doxorubicin | decreases expression | 1 |
| Estradiol | increases expression | 1 |
| Indomethacin | affects cotreatment, decreases expression | 1 |
| Manganese | affects cotreatment, increases abundance, increases expression | 1 |
| 1-Methyl-3-isobutylxanthine | affects cotreatment, decreases expression | 1 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 1 |
| S-Nitrosoglutathione | decreases 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): periodontitis