KAT14
gene geneOn this page
Also known as CRP2BPdJ717M23.1PRO1194ATAC2
Summary
KAT14 (lysine acetyltransferase 14, HGNC:15904) is a protein-coding gene on chromosome 20p11.23, encoding Cysteine-rich protein 2-binding protein (Q9H8E8). Component of the ATAC complex, a complex with histone acetyltransferase activity on histones H3 and H4.
CSRP2 is a protein containing two LIM domains, which are double zinc finger motifs found in proteins of diverse function. CSRP2 and some related proteins are thought to act as protein adapters, bridging two or more proteins to form a larger protein complex. The protein encoded by this gene binds to one of the LIM domains of CSRP2 and contains an acetyltransferase domain. Although the encoded protein has been detected in the cytoplasm, it is predominantly a nuclear protein. Alternatively spliced transcript variants have been described.
Source: NCBI Gene 57325 — RefSeq curated summary.
At a glance
- Gene–disease (curated): multiple congenital anomalies/dysmorphic syndrome (Limited, GenCC)
- GWAS associations: 2
- Clinical variants (ClinVar): 53 total — 2 likely-pathogenic
- MANE Select transcript:
NM_001392073
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:15904 |
| Approved symbol | KAT14 |
| Name | lysine acetyltransferase 14 |
| Location | 20p11.23 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CRP2BP, dJ717M23.1, PRO1194, ATAC2 |
| Ensembl gene | ENSG00000149474 |
| Ensembl biotype | protein_coding |
| OMIM | 617501 |
| Entrez | 57325 |
Gene structure
Transcript identifiers
Ensembl transcripts: 13 — 10 protein_coding, 3 nonsense_mediated_decay
ENST00000377681, ENST00000435364, ENST00000464792, ENST00000489634, ENST00000676935, ENST00000676992, ENST00000677174, ENST00000677266, ENST00000677573, ENST00000677610, ENST00000678772, ENST00000678777, ENST00000688188
RefSeq mRNA: 15 — MANE Select: NM_001392073
NM_001384192, NM_001392069, NM_001392070, NM_001392071, NM_001392072, NM_001392073, NM_001392074, NM_001392075, NM_001392076, NM_001392077, NM_001392078, NM_001392079, NM_001392080, NM_001392081, NM_020536
CCDS: CCDS13133, CCDS93011
Canonical transcript exons
ENST00000688188 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000859280 | 18145233 | 18145351 |
| ENSE00000859284 | 18162377 | 18162945 |
| ENSE00000859285 | 18181710 | 18181846 |
| ENSE00000859286 | 18183123 | 18183298 |
| ENSE00000859287 | 18184602 | 18184792 |
| ENSE00001474844 | 18161823 | 18162239 |
| ENSE00001734123 | 18159084 | 18159265 |
| ENSE00001861002 | 18142208 | 18142919 |
| ENSE00003516923 | 18150821 | 18150942 |
| ENSE00003924246 | 18137863 | 18138051 |
| ENSE00003937364 | 18187286 | 18188035 |
Expression profiles
Bgee: expression breadth ubiquitous, 247 present calls, max score 91.22.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 2.1011 / max 76.3783, expressed in 1060 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 183676 | 14.3814 | 1773 |
| 183677 | 4.3706 | 1628 |
| 183678 | 1.7182 | 1050 |
| 183680 | 0.3088 | 30 |
| 183681 | 0.0585 | 25 |
| 183679 | 0.0157 | 9 |
Top tissues by expression
255 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| deltoid | UBERON:0001476 | 91.22 | gold quality |
| kidney epithelium | UBERON:0004819 | 90.80 | silver quality |
| quadriceps femoris | UBERON:0001377 | 90.51 | gold quality |
| vastus lateralis | UBERON:0001379 | 90.42 | gold quality |
| upper arm skin | UBERON:0004263 | 90.42 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 90.16 | silver quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 89.29 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 89.21 | silver quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 88.55 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 88.42 | gold quality |
| biceps brachii | UBERON:0001507 | 88.22 | gold quality |
| muscle tissue | UBERON:0002385 | 88.01 | gold quality |
| tibialis anterior | UBERON:0001385 | 87.99 | silver quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 87.11 | gold quality |
| muscle of leg | UBERON:0001383 | 86.91 | gold quality |
| gastrocnemius | UBERON:0001388 | 86.91 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 86.74 | gold quality |
| myocardium | UBERON:0002349 | 86.09 | silver quality |
| cortical plate | UBERON:0005343 | 85.72 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 85.23 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 85.20 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 84.92 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 84.52 | gold quality |
| prefrontal cortex | UBERON:0000451 | 84.40 | gold quality |
| jejunum | UBERON:0002115 | 84.23 | gold quality |
| islet of Langerhans | UBERON:0000006 | 84.13 | gold quality |
| ventricular zone | UBERON:0003053 | 83.78 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 83.72 | gold quality |
| ganglionic eminence | UBERON:0004023 | 83.66 | gold quality |
| postcentral gyrus | UBERON:0002581 | 83.59 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.55 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
39 targeting KAT14, 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-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| HSA-MIR-545-3P | 99.95 | 70.74 | 2783 |
| HSA-MIR-515-5P | 99.92 | 69.82 | 2343 |
| HSA-MIR-519E-5P | 99.92 | 69.62 | 2358 |
| HSA-MIR-548AJ-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-548F-5P | 99.78 | 71.02 | 3093 |
| HSA-MIR-548G-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-548X-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-12130 | 99.75 | 65.47 | 452 |
| HSA-MIR-148A-3P | 99.74 | 73.77 | 1700 |
| HSA-MIR-148B-3P | 99.74 | 73.75 | 1700 |
| HSA-MIR-152-3P | 99.74 | 73.75 | 1703 |
| HSA-MIR-5093 | 99.67 | 69.26 | 2291 |
| HSA-MIR-4756-3P | 99.62 | 66.30 | 1319 |
| HSA-MIR-4677-3P | 99.49 | 67.91 | 1246 |
| HSA-MIR-208A-5P | 99.42 | 70.83 | 1913 |
| HSA-MIR-208B-5P | 99.42 | 70.83 | 1952 |
| HSA-MIR-5580-5P | 99.38 | 66.96 | 1139 |
| HSA-MIR-3199 | 99.17 | 65.19 | 696 |
| HSA-MIR-8052 | 99.17 | 65.01 | 719 |
| HSA-MIR-4705 | 99.10 | 69.10 | 1091 |
| HSA-MIR-6506-5P | 99.04 | 65.66 | 1386 |
| HSA-MIR-3190-5P | 98.87 | 64.89 | 1345 |
| HSA-MIR-34B-3P | 98.70 | 67.40 | 1171 |
| HSA-MIR-92A-1-5P | 98.28 | 64.51 | 631 |
| HSA-MIR-6870-3P | 98.08 | 65.10 | 692 |
| HSA-MIR-4294 | 97.86 | 65.72 | 1110 |
| HSA-MIR-146B-3P | 97.83 | 65.29 | 782 |
Literature-anchored findings (GeneRIF, showing 2)
- Actin binds directly to the hATAC subunit KAT14, and modulates its histone acetyl transferase activity in vitro and in cells. (PMID:30890647)
- Lysine acetyltransferase 14 mediates TGF-beta-induced fibrosis in ovarian endometrioma via co-operation with serum response factor. (PMID:38867256)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | kat14 | ENSDARG00000041708 |
| mus_musculus | Kat14 | ENSMUSG00000027425 |
| rattus_norvegicus | Kat14 | ENSRNOG00000007160 |
| drosophila_melanogaster | Atac2 | FBGN0032691 |
Protein
Protein identifiers
Cysteine-rich protein 2-binding protein — Q9H8E8 (reviewed: Q9H8E8)
Alternative names: ADA2A-containing complex subunit 2, CRP2-binding partner, Lysine acetyltransferase 14
All UniProt accessions (6): A0A075B6H4, A0A7I2V3N1, A0A7I2V456, Q9H8E8, A0A7I2V574, D6RAU4
UniProt curated annotations — full annotation on UniProt →
Function. Component of the ATAC complex, a complex with histone acetyltransferase activity on histones H3 and H4. May function as a scaffold for the ATAC complex to promote ATAC complex stability. Has also weak histone acetyltransferase activity toward histone H4. Required for the normal progression through G1 and G2/M phases of the cell cycle.
Subunit / interactions. Interacts with the LIM 1 domain of CSRP2. Component of the ADA2A-containing complex (ATAC), composed of CSRP2BP, KAT2A, TADA2L, TADA3L, ZZ3, MBIP, WDR5, YEATS2, CCDC101 and DR1. In the complex, it probably interacts directly with KAT2A, MBIP and WDR5.
Subcellular location. Nucleus. Cytoplasm.
Tissue specificity. Expressed in skeletal muscle, heart, lung, placenta, brain, liver, pancreas and kidney. High expression in skeletal muscle and heart. Lower expression in lung.
Miscellaneous. May be due to an intron retention.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9H8E8-1 | 1 | yes |
| Q9H8E8-2 | 2 |
RefSeq proteins (15): NP_001371121, NP_001378998, NP_001378999, NP_001379000, NP_001379001, NP_001379002, NP_001379003, NP_001379004, NP_001379005, NP_001379006, NP_001379007, NP_001379008, NP_001379009, NP_001379010, NP_065397 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000182 | GNAT_dom | Domain |
| IPR016181 | Acyl_CoA_acyltransferase | Homologous_superfamily |
Pfam: PF00583
Enzyme classification (BRENDA):
- EC 2.3.1.48 — histone acetyltransferase (BRENDA: 41 organisms, 681 substrates, 1134 inhibitors, 140 Km, 96 kcat entries)
Substrate kinetics (BRENDA)
27 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| ACETYL-COA | 0.0002–0.046 | 51 |
| HISTONE H3 | 0.007–2.09 | 23 |
| HISTONE H4 | — | 11 |
| HISTONE H4 PEPTIDE | 0.0208–0.197 | 7 |
| HISTONE | 0.075–1.4 | 6 |
| HISTONE H3 TAIL PEPTIDE | 0.044–0.112 | 4 |
| PICCOLONUA4 PEPTIDE | 0.135–0.372 | 4 |
| 3-AZIDOPROPIONYL-COA | 0.0002–0.0086 | 3 |
| 4-PENTYNOYL-COA | 0.0009–0.0859 | 3 |
| SPERMIDINE | 0.18–0.27 | 3 |
| 5-HEXYNOYL-COA | 0.0006–0.0117 | 2 |
| 6-HEPTYNOYL-COA | 0.0003–0.0237 | 2 |
| HISTONE H3-PEPTIDE | 0.05–0.49 | 2 |
| PROTEIN P53 | 1.28–4.63 | 2 |
| 3-AZIDOPROPANOYL-COA | 0.0103 | 1 |
UniProt features (22 total): modified residue 5, sequence variant 5, region of interest 4, compositionally biased region 4, chain 1, domain 1, splice variant 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9H8E8-F1 | 67.36 | 0.26 |
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 (5): 4, 231, 285, 292, 416
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-3214847 | HATs acetylate histones |
| R-HSA-9772755 | Formation of WDR5-containing histone-modifying complexes |
MSigDB gene sets: 137 (showing top):
GOBP_REGULATION_OF_PROTEIN_DEACETYLATION, GOBP_MACROMOLECULE_DEACYLATION, WEI_MYCN_TARGETS_WITH_E_BOX, WANG_LMO4_TARGETS_DN, TGCTGAY_UNKNOWN, GOBP_REGULATION_OF_CELL_CYCLE, USF_01, GOBP_REGULATION_OF_CELL_DIVISION, ZHOU_INFLAMMATORY_RESPONSE_LIVE_DN, IK2_01, GOBP_EMBRYO_DEVELOPMENT, GOBP_REGULATION_OF_EMBRYONIC_DEVELOPMENT, GOBP_CHROMATIN_REMODELING, GOCC_SPINDLE, TGGAAA_NFAT_Q4_01
GO Biological Process (8): negative regulation of transcription by RNA polymerase II (GO:0000122), regulation of DNA-templated transcription (GO:0006355), regulation of transcription by RNA polymerase II (GO:0006357), regulation of embryonic development (GO:0045995), regulation of cell division (GO:0051302), regulation of cell cycle (GO:0051726), G2/M transition of mitotic cell cycle (GO:0000086), chromatin remodeling (GO:0006338)
GO Molecular Function (4): histone acetyltransferase activity (GO:0004402), LIM domain binding (GO:0030274), protein binding (GO:0005515), acyltransferase activity, transferring groups other than amino-acyl groups (GO:0016747)
GO Cellular Component (5): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), mitotic spindle (GO:0072686), ATAC complex (GO:0140672)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Chromatin modifying enzymes | 1 |
| Epigenetic regulation by WDR5-containing histone modifying complexes | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| transcription by RNA polymerase II | 2 |
| regulation of cellular process | 2 |
| cellular anatomical structure | 2 |
| regulation of transcription by RNA polymerase II | 1 |
| negative regulation of DNA-templated transcription | 1 |
| DNA-templated transcription | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| regulation of DNA-templated transcription | 1 |
| embryo development | 1 |
| regulation of multicellular organismal development | 1 |
| cell division | 1 |
| cell cycle | 1 |
| mitotic cell cycle | 1 |
| mitotic cell cycle phase transition | 1 |
| cell cycle G2/M phase transition | 1 |
| chromatin organization | 1 |
| protein-lysine-acetyltransferase activity | 1 |
| histone modifying activity | 1 |
| protein domain specific binding | 1 |
| binding | 1 |
| acyltransferase activity | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| intracellular anatomical structure | 1 |
| spindle | 1 |
| SAGA-type complex | 1 |
Protein interactions and networks
STRING
998 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| KAT14 | ZZZ3 | Q8IYH5 | 898 |
| KAT14 | YEATS2 | Q9ULM3 | 821 |
| KAT14 | KAT2B | Q92831 | 810 |
| KAT14 | SGF29 | Q96ES7 | 772 |
| KAT14 | KAT2A | Q92830 | 771 |
| KAT14 | TADA2B | Q86TJ2 | 691 |
| KAT14 | TADA2A | O75478 | 668 |
| KAT14 | DR1 | Q01658 | 631 |
| KAT14 | NAA20 | P61599 | 584 |
| KAT14 | TADA3 | O75528 | 571 |
| KAT14 | TAF6 | P49848 | 524 |
| KAT14 | ZNF250 | P15622 | 500 |
| KAT14 | TAF5 | Q15542 | 485 |
| KAT14 | TFIP11 | Q9UBB9 | 467 |
| KAT14 | SUPT20H | Q8NEM7 | 464 |
IntAct
106 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PSMC3 | PSMD9 | psi-mi:“MI:0914”(association) | 0.940 |
| WDR5 | KMT2D | psi-mi:“MI:0914”(association) | 0.910 |
| KAT14 | MBIP | psi-mi:“MI:0915”(physical association) | 0.860 |
| MBIP | KAT14 | psi-mi:“MI:0915”(physical association) | 0.860 |
| CDK8 | MED19 | psi-mi:“MI:2364”(proximity) | 0.850 |
| SGF29 | NDC80 | psi-mi:“MI:0914”(association) | 0.840 |
| TADA3 | TADA2A | psi-mi:“MI:0914”(association) | 0.740 |
| TRIM27 | KAT14 | psi-mi:“MI:0915”(physical association) | 0.720 |
| KAT14 | TRIM27 | psi-mi:“MI:0915”(physical association) | 0.720 |
| WDR5 | MEN1 | psi-mi:“MI:0914”(association) | 0.710 |
| HSPB2 | BAG3 | psi-mi:“MI:0914”(association) | 0.670 |
| PSMC3 | PSMD12 | psi-mi:“MI:0914”(association) | 0.640 |
| KAT14 | MBIP | psi-mi:“MI:0915”(physical association) | 0.560 |
| MBIP | KAT14 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KAT14 | SERTAD1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TRIM54 | KAT14 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CEP70 | KAT14 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZFY | KAT14 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DPPA4 | KAT14 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MAGEA10 | POTEF | psi-mi:“MI:0914”(association) | 0.530 |
| FHL2 | CNOT1 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (178): CSRP2BP (Two-hybrid), CSRP2BP (Two-hybrid), CSRP2BP (Affinity Capture-MS), HIST1H3A (Biochemical Activity), HIST1H4A (Biochemical Activity), CSRP2BP (Affinity Capture-MS), CSRP2BP (Affinity Capture-MS), CSRP2BP (Affinity Capture-MS), CSRP2BP (Affinity Capture-MS), CSRP2BP (Affinity Capture-MS), CSRP2BP (Affinity Capture-MS), CSRP2BP (Affinity Capture-MS), CSRP2BP (Affinity Capture-MS), CSRP2BP (Affinity Capture-MS), CSRP2BP (Two-hybrid)
ESM2 similar proteins: A0A5F9C6I2, A1L3F5, A2BDA5, A3KGS3, A8E4X8, D3ZXK7, F1R7R1, O75129, P21359, P51593, P97526, Q04690, Q1JPG0, Q2PPJ7, Q3SZD5, Q4QQM5, Q4R5A4, Q5RC14, Q5XPI3, Q5XPI4, Q62717, Q66K64, Q6GLR7, Q6NXD8, Q6P4S8, Q6PFH3, Q6VNB8, Q7L4E1, Q7TMY8, Q7Z6Z7, Q80TJ1, Q86UW7, Q8BHR8, Q8BK03, Q8BYR5, Q8CDG3, Q8CF97, Q8CID0, Q8IY22, Q8IZQ1
Diamond homologs: O43189, Q02395, Q24459, Q5R7T9, Q5T6S3, Q8CID0, Q9CXG9, Q9H8E8, Q9Y483, Q9Z1B8, O60070, Q6IE82, Q7YZH1, Q7ZVP1, Q92613
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 110 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 |
|---|---|---|---|
| Formation of WDR5-containing histone-modifying complexes | 10 | 33.2× | 1e-10 |
| Epigenetic regulation by WDR5-containing histone modifying complexes | 9 | 17.4× | 5e-07 |
| Proteasome assembly | 5 | 12.8× | 3e-03 |
| Epigenetic regulation of gene expression | 10 | 8.9× | 3e-05 |
| HATs acetylate histones | 9 | 8.9× | 9e-05 |
| Chromatin organization | 8 | 8.2× | 6e-04 |
| MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis | 7 | 7.2× | 3e-03 |
| Chromatin modifying enzymes | 8 | 7.2× | 1e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| regulation of cell division | 7 | 50.6× | 2e-08 |
| regulation of embryonic development | 9 | 28.1× | 2e-08 |
| regulation of DNA repair | 5 | 13.0× | 3e-03 |
| regulation of cell cycle | 11 | 7.7× | 2e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
53 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 2 |
| Uncertain significance | 19 |
| Likely benign | 3 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (2)
| Variant ID | HGVS | Classification |
|---|---|---|
| 402155 | NM_001392073.1(KAT14):c.1396G>A (p.Glu466Lys) | Likely pathogenic |
| 981504 | NM_001164811.2(PET117):c.172C>T (p.Gln58Ter) | Likely pathogenic |
SpliceAI
2234 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 20:18142202:TTTTA:T | acceptor_loss | 1.0000 |
| 20:18142203:TTTA:T | acceptor_loss | 1.0000 |
| 20:18142204:TTA:T | acceptor_loss | 1.0000 |
| 20:18142205:TA:T | acceptor_loss | 1.0000 |
| 20:18142206:A:AG | acceptor_gain | 1.0000 |
| 20:18142206:AG:A | acceptor_loss | 1.0000 |
| 20:18142206:AGAG:A | acceptor_gain | 1.0000 |
| 20:18142207:G:GG | acceptor_gain | 1.0000 |
| 20:18142207:GA:G | acceptor_gain | 1.0000 |
| 20:18142207:GAGG:G | acceptor_gain | 1.0000 |
| 20:18142207:GAGGC:G | acceptor_gain | 1.0000 |
| 20:18142916:GCCA:G | donor_gain | 1.0000 |
| 20:18142920:G:GG | donor_gain | 1.0000 |
| 20:18150936:GGAA:G | donor_gain | 1.0000 |
| 20:18183112:T:TA | acceptor_gain | 1.0000 |
| 20:18184793:G:GG | donor_gain | 1.0000 |
| 20:18187284:A:AG | acceptor_gain | 1.0000 |
| 20:18187285:G:GG | acceptor_gain | 1.0000 |
| 20:18138047:AGCAG:A | donor_loss | 0.9900 |
| 20:18138048:GCAG:G | donor_gain | 0.9900 |
| 20:18138049:CAGGT:C | donor_loss | 0.9900 |
| 20:18138051:GGTC:G | donor_loss | 0.9900 |
| 20:18138052:GTCG:G | donor_loss | 0.9900 |
| 20:18138053:T:G | donor_loss | 0.9900 |
| 20:18145348:GCAA:G | donor_gain | 0.9900 |
| 20:18145352:G:GG | donor_gain | 0.9900 |
| 20:18150937:GAA:G | donor_gain | 0.9900 |
| 20:18181708:A:AG | acceptor_gain | 0.9900 |
| 20:18181709:G:GG | acceptor_gain | 0.9900 |
| 20:18181843:TCAG:T | donor_loss | 0.9900 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000048126 (20:18160791 A>C,G), RS1000079257 (20:18148966 A>G), RS1000126740 (20:18167635 T>A), RS1000150140 (20:18177897 A>T), RS1000153774 (20:18186533 A>G), RS1000172629 (20:18179658 C>T), RS1000229768 (20:18186274 G>A,T), RS1000266278 (20:18167192 G>T), RS1000286344 (20:18174961 G>A), RS1000327560 (20:18173686 A>T), RS1000376615 (20:18137270 T>A,C), RS1000407681 (20:18137489 G>C), RS1000585863 (20:18155921 A>G), RS1000683662 (20:18143684 A>G), RS1000778846 (20:18149156 G>A,T)
Disease associations
OMIM: gene MIM:617501 | disease phenotypes: MIM:619063
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| multiple congenital anomalies/dysmorphic syndrome | Limited | Autosomal recessive |
Mondo (2): mitochondrial complex IV deficiency, nuclear type 19 (MONDO:0033654), multiple congenital anomalies/dysmorphic syndrome (MONDO:0019042)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000873_2 | Anorexia nervosa | 2.000000e-06 |
| GCST008170_4 | Thyroglobulin plasma levels | 3.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0010050 | thyroglobulin measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
48 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | affects cotreatment, increases expression | 3 |
| sodium arsenite | decreases expression | 3 |
| Hydrogen Peroxide | affects expression, increases expression | 2 |
| Cyclosporine | decreases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| pirinixic acid | increases expression, affects binding, increases activity | 1 |
| beta-lapachone | decreases expression, increases expression | 1 |
| arsenite | increases methylation | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| ochratoxin A | decreases expression | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| ferrous chloride | decreases expression | 1 |
| nickel sulfate | decreases expression | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 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, decreases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| Temozolomide | increases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Benzo(a)pyrene | decreases expression | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Succimer | affects cotreatment, decreases expression | 1 |
| Dimethyl Sulfoxide | increases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Associated diseases: multiple congenital anomalies/dysmorphic syndrome
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): anorexia nervosa, mitochondrial complex IV deficiency, nuclear type 19, multiple congenital anomalies/dysmorphic syndrome