THAP12
gene geneOn this page
Also known as P52rIPKDAP4THAP0
Summary
THAP12 (THAP domain containing 12, HGNC:9440) is a protein-coding gene on chromosome 11q13.5, encoding 52 kDa repressor of the inhibitor of the protein kinase (O43422). Upstream regulator of interferon-induced serine/threonine protein kinase R (PKR). It is a selective cancer dependency (DepMap: 36.8% of cell lines).
Predicted to enable several functions, including DNA binding activity; protein dimerization activity; and zinc ion binding activity. Predicted to be involved in negative regulation of cell population proliferation and signal transduction. Predicted to be located in nucleus.
Source: NCBI Gene 5612 — RefSeq curated summary.
At a glance
- Gene–disease (curated): syndromic complex neurodevelopmental disorder (Limited, GenCC)
- GWAS associations: 14
- Clinical variants (ClinVar): 11 total
- Cancer dependency (DepMap): dependent in 36.8% of screened cell lines
- MANE Select transcript:
NM_004705
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:9440 |
| Approved symbol | THAP12 |
| Name | THAP domain containing 12 |
| Location | 11q13.5 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | P52rIPK, DAP4, THAP0 |
| Ensembl gene | ENSG00000137492 |
| Ensembl biotype | protein_coding |
| OMIM | 607374 |
| Entrez | 5612 |
Gene structure
Transcript identifiers
Ensembl transcripts: 12 — 6 nonsense_mediated_decay, 3 protein_coding, 2 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000260045, ENST00000525277, ENST00000528993, ENST00000529901, ENST00000531878, ENST00000682046, ENST00000682527, ENST00000682978, ENST00000683600, ENST00000684059, ENST00000684702, ENST00000937942
RefSeq mRNA: 1 — MANE Select: NM_004705
NM_004705
CCDS: CCDS8243
Canonical transcript exons
ENST00000260045 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000927649 | 76380748 | 76381132 |
| ENSE00003569397 | 76349956 | 76352794 |
| ENSE00003608958 | 76355618 | 76355654 |
| ENSE00003632498 | 76360956 | 76361063 |
| ENSE00003667726 | 76365852 | 76365972 |
Expression profiles
Bgee: expression breadth ubiquitous, 290 present calls, max score 96.57.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.0468 / max 61.1785, expressed in 1725 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 121387 | 6.8406 | 1719 |
| 121386 | 0.2062 | 70 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| calcaneal tendon | UBERON:0003701 | 96.57 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 94.59 | gold quality |
| corpus epididymis | UBERON:0004359 | 94.58 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 94.18 | gold quality |
| biceps brachii | UBERON:0001507 | 94.00 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 93.97 | gold quality |
| caput epididymis | UBERON:0004358 | 93.95 | gold quality |
| colonic mucosa | UBERON:0000317 | 93.92 | gold quality |
| secondary oocyte | CL:0000655 | 93.83 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 93.83 | gold quality |
| retina | UBERON:0000966 | 93.81 | gold quality |
| ventricular zone | UBERON:0003053 | 93.67 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 93.66 | gold quality |
| ganglionic eminence | UBERON:0004023 | 93.64 | gold quality |
| body of pancreas | UBERON:0001150 | 93.53 | gold quality |
| cauda epididymis | UBERON:0004360 | 93.52 | gold quality |
| adrenal tissue | UBERON:0018303 | 93.39 | gold quality |
| oocyte | CL:0000023 | 93.22 | gold quality |
| mammary duct | UBERON:0001765 | 93.14 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 93.06 | gold quality |
| tendon | UBERON:0000043 | 92.94 | gold quality |
| superficial temporal artery | UBERON:0001614 | 92.91 | gold quality |
| pancreas | UBERON:0001264 | 92.89 | gold quality |
| rectum | UBERON:0001052 | 92.81 | gold quality |
| skin of hip | UBERON:0001554 | 92.80 | gold quality |
| leukocyte | CL:0000738 | 92.78 | gold quality |
| mononuclear cell | CL:0000842 | 92.72 | gold quality |
| monocyte | CL:0000576 | 92.68 | gold quality |
| embryo | UBERON:0000922 | 92.64 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 92.59 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 6.56 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
2 targets.
| Target | Regulation |
|---|---|
| IFNA1 | |
| TPM1 |
miRNA regulators (miRDB)
81 targeting THAP12, 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-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-6077 | 99.99 | 68.04 | 2299 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| HSA-MIR-23A-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23B-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23C | 99.95 | 73.92 | 3192 |
| HSA-MIR-1-3P | 99.93 | 72.35 | 1914 |
| HSA-MIR-206 | 99.93 | 72.50 | 1893 |
| HSA-MIR-381-3P | 99.93 | 71.87 | 2854 |
| HSA-MIR-300 | 99.92 | 71.76 | 2856 |
| HSA-MIR-613 | 99.91 | 71.50 | 1710 |
| HSA-MIR-8063 | 99.91 | 69.76 | 3146 |
| HSA-MIR-3671 | 99.90 | 73.04 | 3897 |
| HSA-MIR-8062 | 99.88 | 68.43 | 995 |
| HSA-MIR-3919 | 99.87 | 69.45 | 2489 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 36.8% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 2)
- role in promoting MST1-induced apoptosis by enabling colocalization of MST with p53 (PMID:12384512)
- PRKRIR provides a novel positive regulator controlling the RIG-I-IFN production system through protein stability control. (PMID:21910972)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | thap12b | ENSDARG00000020964 |
| danio_rerio | thap12a | ENSDARG00000042489 |
| mus_musculus | Thap12 | ENSMUSG00000030753 |
| rattus_norvegicus | Thap12 | ENSRNOG00000053923 |
Paralogs (18): GTF2IRD1 (ENSG00000006704), ZMYM2 (ENSG00000121741), ZMYM5 (ENSG00000132950), ZMYM4 (ENSG00000146463), ZMYM3 (ENSG00000147130), ZMYM6 (ENSG00000163867), KIAA1958 (ENSG00000165185), GTF2IRD2B (ENSG00000174428), EPM2AIP1 (ENSG00000178567), GTF2IRD2 (ENSG00000196275), ZMYM1 (ENSG00000197056), QRICH1 (ENSG00000198218), FAM200C (ENSG00000221886), FAM200A (ENSG00000221909), SCAND3 (ENSG00000232040), ZBED5 (ENSG00000236287), FAM200B (ENSG00000237765), GTF2I (ENSG00000263001)
Protein
Protein identifiers
52 kDa repressor of the inhibitor of the protein kinase — O43422 (reviewed: O43422)
Alternative names: 58 kDa interferon-induced protein kinase-interacting protein, Death-associated protein 4, THAP domain-containing protein 0, THAP domain-containing protein 12
All UniProt accessions (8): O43422, A0A140VJQ7, A0A804HKN8, A0A804HKR8, A0A804HKT7, A0A804HKY5, A0A804HL83, E9PSI2
UniProt curated annotations — full annotation on UniProt →
Function. Upstream regulator of interferon-induced serine/threonine protein kinase R (PKR). May block the PKR-inhibitory function of DNAJC3, resulting in restoration of kinase activity and suppression of cell growth.
Subunit / interactions. Interacts with DNAJC3, probably sequestring it.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O43422-1 | Long | yes |
| O43422-2 | Short |
RefSeq proteins (1): NP_004696* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR006612 | THAP_Znf | Domain |
| IPR008906 | HATC_C_dom | Domain |
| IPR012337 | RNaseH-like_sf | Homologous_superfamily |
| IPR025398 | RNase-like_ZMYM1 | Domain |
| IPR052958 | IFN-induced_PKR_regulator | Family |
Pfam: PF05485, PF05699, PF14291
UniProt features (10 total): sequence conflict 3, splice variant 2, chain 1, zinc finger region 1, region of interest 1, compositionally biased region 1, modified residue 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O43422-F1 | 83.91 | 0.59 |
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 (1): 566
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 166 (showing top):
GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_DN, TGCGCANK_UNKNOWN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, BROWNE_HCMV_INFECTION_16HR_UP, MEF2_02, chr11q13, PUJANA_CHEK2_PCC_NETWORK, TCF4_Q5, OCT1_06, DEBIASI_APOPTOSIS_BY_REOVIRUS_INFECTION_UP, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, FISCHER_DREAM_TARGETS, NIKOLSKY_BREAST_CANCER_11Q12_Q14_AMPLICON, DANG_BOUND_BY_MYC, BENPORATH_MYC_MAX_TARGETS
GO Biological Process (2): signal transduction (GO:0007165), negative regulation of cell population proliferation (GO:0008285)
GO Molecular Function (5): DNA binding (GO:0003677), zinc ion binding (GO:0008270), protein dimerization activity (GO:0046983), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (1): nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| cell population proliferation | 1 |
| regulation of cell population proliferation | 1 |
| negative regulation of cellular process | 1 |
| nucleic acid binding | 1 |
| transition metal ion binding | 1 |
| protein binding | 1 |
| binding | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
826 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| THAP12 | THAP7 | Q9BT49 | 912 |
| THAP12 | THAP4 | Q8WY91 | 904 |
| THAP12 | THAP11 | Q96EK4 | 899 |
| THAP12 | THAP1 | Q9NVV9 | 891 |
| THAP12 | THAP3 | Q8WTV1 | 882 |
| THAP12 | DNAJC3 | Q13217 | 874 |
| THAP12 | THAP5 | Q7Z6K1 | 644 |
| THAP12 | EIF2AK2 | P19525 | 627 |
| THAP12 | THAP9 | Q9H5L6 | 607 |
| THAP12 | THAP10 | Q9P2Z0 | 592 |
| THAP12 | THAP8 | Q8NA92 | 583 |
| THAP12 | THAP6 | Q8TBB0 | 473 |
| THAP12 | HSP90AB1 | P08238 | 455 |
| THAP12 | SPATA31D3 | P0C874 | 447 |
| THAP12 | A0A3B3IRQ3 | A0A3B3IRQ3 | 445 |
IntAct
131 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| THAP12 | ZNF526 | psi-mi:“MI:0915”(physical association) | 0.670 |
| GPR156 | PLD2 | psi-mi:“MI:0914”(association) | 0.640 |
| LIN28A | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.640 |
| THAP12 | ZNF574 | psi-mi:“MI:0915”(physical association) | 0.620 |
| ZNF574 | THAP12 | psi-mi:“MI:0914”(association) | 0.620 |
| THAP12 | TACC1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TACC1 | THAP12 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SELENBP1 | THAP12 | psi-mi:“MI:0915”(physical association) | 0.560 |
| THAP12 | SELENBP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| THAP12 | KIAA1958 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RPS14 | MAGEB2 | psi-mi:“MI:0914”(association) | 0.560 |
| CACNG5 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| XAGE1A | THAP12 | psi-mi:“MI:0914”(association) | 0.530 |
| IGHMBP2 | THAP12 | psi-mi:“MI:0914”(association) | 0.530 |
| FADD | THAP12 | psi-mi:“MI:0914”(association) | 0.530 |
| TMEM171 | THAP12 | psi-mi:“MI:0914”(association) | 0.530 |
| LHX4 | THAP12 | psi-mi:“MI:0914”(association) | 0.530 |
| H2AC20 | PPM1G | psi-mi:“MI:0914”(association) | 0.530 |
| RPS2 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.530 |
| KRR1 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (133): TACC1 (Two-hybrid), PRKRIR (Affinity Capture-MS), PRKRIR (Affinity Capture-MS), PRKRIR (Affinity Capture-MS), PRKRIR (Affinity Capture-MS), PRKRIR (Affinity Capture-MS), PRKRIR (Affinity Capture-MS), PRKRIR (Affinity Capture-MS), PRKRIR (Affinity Capture-MS), MAPKAPK3 (Two-hybrid), MAPKAPK3 (Affinity Capture-Western), MAPKAPK2 (Affinity Capture-Western), EIF2AK2 (Affinity Capture-Western), PRKRIR (Affinity Capture-MS), PRKRIR (Affinity Capture-MS)
ESM2 similar proteins: A3KMX0, A4IFA3, A4IGY9, A4Z943, A4Z944, B8QB46, D2EAC2, E1C2V1, O43422, O60290, P10911, P35125, P86452, Q13075, Q2NKX8, Q3UPF5, Q49AG3, Q5FWF4, Q5SVZ6, Q5T890, Q5TKR9, Q6DJS0, Q6EKJ0, Q6R2W3, Q6YI93, Q7Z2W4, Q80WE4, Q86UP8, Q86VD1, Q8BZ21, Q8N8K9, Q8QMP8, Q8TDB6, Q8WML3, Q92794, Q96JM7, Q96JS3, Q99388, Q99NI3, Q9CUX1
Diamond homologs: O43422, Q9CUX1, A4IGQ8, A5PKF5, Q6IR68, Q6TGZ4, Q96EK4, Q9JJD0
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| THAP12 | unknown | EIF2S1 | phosphorylation |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 116 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 |
|---|---|---|---|
| SARS-CoV-1 modulates host translation machinery | 8 | 32.9× | 1e-09 |
| Eukaryotic Translation Initiation | 7 | 28.8× | 5e-08 |
| Cap-dependent Translation Initiation | 7 | 28.8× | 5e-08 |
| Eukaryotic Translation Elongation | 7 | 26.0× | 9e-08 |
| Peptide chain elongation | 15 | 25.4× | 2e-15 |
| Viral mRNA Translation | 15 | 25.4× | 2e-15 |
| Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S | 7 | 25.4× | 9e-08 |
| Transport of Mature Transcript to Cytoplasm | 5 | 25.4× | 9e-06 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| cytoplasmic translation | 16 | 29.1× | 9e-17 |
| translation | 18 | 18.1× | 1e-15 |
| ribosomal small subunit biogenesis | 7 | 15.6× | 4e-05 |
| mitochondrial translation | 9 | 15.3× | 1e-06 |
| regulation of alternative mRNA splicing, via spliceosome | 6 | 14.4× | 3e-04 |
| mRNA transport | 5 | 12.9× | 3e-03 |
| negative regulation of translation | 5 | 9.6× | 1e-02 |
| rRNA processing | 6 | 8.3× | 5e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
11 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 4 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
999 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:76352790:ATCAA:A | acceptor_gain | 1.0000 |
| 11:76352791:TCAA:T | acceptor_gain | 1.0000 |
| 11:76352792:CAA:C | acceptor_gain | 1.0000 |
| 11:76352792:CAAC:C | acceptor_gain | 1.0000 |
| 11:76352793:AA:A | acceptor_gain | 1.0000 |
| 11:76352793:AACT:A | acceptor_loss | 1.0000 |
| 11:76352795:C:CC | acceptor_gain | 1.0000 |
| 11:76355616:A:AC | donor_gain | 1.0000 |
| 11:76355617:C:CC | donor_gain | 1.0000 |
| 11:76355663:C:CT | acceptor_gain | 1.0000 |
| 11:76355664:A:T | acceptor_gain | 1.0000 |
| 11:76361062:CT:C | acceptor_gain | 1.0000 |
| 11:76361064:C:CC | acceptor_gain | 1.0000 |
| 11:76361064:CT:C | acceptor_loss | 1.0000 |
| 11:76365850:A:AC | donor_gain | 1.0000 |
| 11:76365851:C:CC | donor_gain | 1.0000 |
| 11:76365851:CAGTT:C | donor_gain | 1.0000 |
| 11:76365911:G:C | donor_gain | 1.0000 |
| 11:76380746:ACC:A | donor_loss | 1.0000 |
| 11:76352793:A:T | acceptor_gain | 0.9900 |
| 11:76352803:C:CT | acceptor_gain | 0.9900 |
| 11:76352804:A:T | acceptor_gain | 0.9900 |
| 11:76355611:CACTT:C | donor_loss | 0.9900 |
| 11:76355612:ACTT:A | donor_loss | 0.9900 |
| 11:76355613:CT:C | donor_loss | 0.9900 |
| 11:76355614:T:TA | donor_loss | 0.9900 |
| 11:76355615:TACTT:T | donor_loss | 0.9900 |
| 11:76355616:AC:A | donor_loss | 0.9900 |
| 11:76355617:C:T | donor_loss | 0.9900 |
| 11:76355617:CT:C | donor_gain | 0.9900 |
AlphaMissense
5067 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 11:76351128:A:C | F674L | 1.000 |
| 11:76351128:A:T | F674L | 1.000 |
| 11:76351130:A:G | F674L | 1.000 |
| 11:76351203:C:A | W649C | 1.000 |
| 11:76351203:C:G | W649C | 1.000 |
| 11:76351204:C:G | W649S | 1.000 |
| 11:76351205:A:G | W649R | 1.000 |
| 11:76351205:A:T | W649R | 1.000 |
| 11:76351215:C:A | W645C | 1.000 |
| 11:76351215:C:G | W645C | 1.000 |
| 11:76351216:C:G | W645S | 1.000 |
| 11:76351217:A:G | W645R | 1.000 |
| 11:76351217:A:T | W645R | 1.000 |
| 11:76351218:A:C | C644W | 1.000 |
| 11:76351220:A:G | C644R | 1.000 |
| 11:76351225:A:G | L642P | 1.000 |
| 11:76351324:G:C | P609R | 1.000 |
| 11:76351324:G:T | P609H | 1.000 |
| 11:76351325:G:A | P609S | 1.000 |
| 11:76351325:G:T | P609T | 1.000 |
| 11:76361016:A:C | F86L | 1.000 |
| 11:76361016:A:T | F86L | 1.000 |
| 11:76361018:A:G | F86L | 1.000 |
| 11:76361026:G:C | P83R | 1.000 |
| 11:76361026:G:T | P83Q | 1.000 |
| 11:76361027:G:A | P83S | 1.000 |
| 11:76361027:G:T | P83T | 1.000 |
| 11:76361044:A:G | L77P | 1.000 |
| 11:76361044:A:T | L77H | 1.000 |
| 11:76365876:A:C | F62L | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000136620 (11:76380004 T>C), RS1000180032 (11:76363034 T>C), RS1000383682 (11:76357014 C>G), RS1000402271 (11:76379750 G>A), RS1000422203 (11:76372222 G>A,C), RS1000485640 (11:76374689 G>A,T), RS1000597187 (11:76368511 G>A), RS1000682748 (11:76360531 C>A,G,T), RS1000865162 (11:76354904 T>C), RS1001009047 (11:76381104 G>C), RS1001099447 (11:76368753 A>G), RS1001177565 (11:76382926 C>T), RS1001184230 (11:76364318 T>A,G), RS1001276182 (11:76354553 T>C), RS1001290079 (11:76377258 T>A,C)
Disease associations
OMIM: gene MIM:607374 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| syndromic complex neurodevelopmental disorder | Limited | Autosomal recessive |
Mondo (1): syndromic complex neurodevelopmental disorder (MONDO:0800439)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
14 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST007095_2 | Systolic blood pressure | 4.000000e-08 |
| GCST007095_3 | Systolic blood pressure | 2.000000e-07 |
| GCST007096_56 | Pulse pressure | 3.000000e-08 |
| GCST007097_104 | Pulse pressure | 2.000000e-10 |
| GCST007097_105 | Pulse pressure | 7.000000e-11 |
| GCST007099_14 | Systolic blood pressure | 4.000000e-09 |
| GCST007564_15 | Asthma or allergic disease (pleiotropy) | 3.000000e-28 |
| GCST007994_26 | Asthma (age of onset) | 4.000000e-15 |
| GCST007995_34 | Asthma (childhood onset) | 2.000000e-39 |
| GCST008916_101 | Asthma | 1.000000e-48 |
| GCST008916_84 | Asthma | 8.000000e-29 |
| GCST009798_77 | Asthma | 4.000000e-35 |
| GCST012298_9 | Schizophrenia, bipolar disorder or major depressive disorder x sex interaction | 5.000000e-06 |
| GCST012301_11 | Schizophrenia, bipolar disorder or major depressive disorder x sex interaction | 8.000000e-06 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006335 | systolic blood pressure |
| EFO:0005763 | pulse pressure measurement |
| EFO:0008343 | sex interaction measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
24 total (human), top 24 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | decreases expression | 2 |
| Particulate Matter | affects cotreatment, decreases expression, increases abundance | 2 |
| aristolochic acid I | decreases expression, increases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| glycidyl methacrylate | decreases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| jinfukang | decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Ethanol | decreases expression, increases abundance, affects cotreatment | 1 |
| Atrazine | decreases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Doxorubicin | decreases expression | 1 |
| Gasoline | affects cotreatment, decreases expression, increases abundance | 1 |
| Methyl Methanesulfonate | decreases expression | 1 |
| Polycyclic Aromatic Hydrocarbons | affects cotreatment, decreases expression, increases abundance | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Antirheumatic Agents | increases expression | 1 |
| Cadmium Chloride | decreases expression | 1 |
Cellosaurus cell lines
12 cell lines: 4 transformed cell line, 4 finite cell line, 4 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_C7LL | GM27988 | Transformed cell line | Female |
| CVCL_C7LM | GM27990 | Finite cell line | Female |
| CVCL_C7LN | GM27991 | Transformed cell line | Female |
| CVCL_C7LP | GM27993 | Finite cell line | Female |
| CVCL_C7LQ | GM27994 | Transformed cell line | Female |
| CVCL_C7LR | GM27995 | Finite cell line | Female |
| CVCL_C7LS | GM27996 | Transformed cell line | Male |
| CVCL_C7LT | GM27997 | Finite cell line | Male |
| CVCL_D8CE | Ubigene A-549 THAP12 KO | Cancer cell line | Male |
| CVCL_E2HW | HAP1 PRKRIR (-) 1 | Cancer cell line | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Associated diseases: syndromic complex neurodevelopmental disorder
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): syndromic complex neurodevelopmental disorder