INTS12
gene geneOn this page
Also known as SBBI22INT12
Summary
INTS12 (integrator complex subunit 12, HGNC:25067) is a protein-coding gene on chromosome 4q24, encoding Integrator complex subunit 12 (Q96CB8). Component of the integrator complex, a multiprotein complex that terminates RNA polymerase II (Pol II) transcription in the promoter-proximal region of genes. It is a selective cancer dependency (DepMap: 43.4% of cell lines).
INTS12 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).
Source: NCBI Gene 57117 — RefSeq curated summary.
At a glance
- GWAS associations: 10
- Clinical variants (ClinVar): 53 total
- Cancer dependency (DepMap): dependent in 43.4% of screened cell lines
- MANE Select transcript:
NM_020395
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25067 |
| Approved symbol | INTS12 |
| Name | integrator complex subunit 12 |
| Location | 4q24 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | SBBI22, INT12 |
| Ensembl gene | ENSG00000138785 |
| Ensembl biotype | protein_coding |
| OMIM | 611355 |
| Entrez | 57117 |
Gene structure
Transcript identifiers
Ensembl transcripts: 41 — 40 protein_coding, 1 retained_intron
ENST00000340139, ENST00000394735, ENST00000416543, ENST00000420368, ENST00000433009, ENST00000451321, ENST00000493425, ENST00000503746, ENST00000510876, ENST00000515819, ENST00000891042, ENST00000891043, ENST00000891044, ENST00000891045, ENST00000891046, ENST00000891047, ENST00000891048, ENST00000891049, ENST00000891050, ENST00000891051, ENST00000891052, ENST00000891053, ENST00000891054, ENST00000891055, ENST00000891056, ENST00000891057, ENST00000891058, ENST00000891059, ENST00000891060, ENST00000891061, ENST00000891062, ENST00000925833, ENST00000925834, ENST00000925835, ENST00000925836, ENST00000925837, ENST00000925838, ENST00000925839, ENST00000947226, ENST00000947227, ENST00000947228
RefSeq mRNA: 2 — MANE Select: NM_020395
NM_001142471, NM_020395
CCDS: CCDS3671
Canonical transcript exons
ENST00000340139 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000735874 | 105695516 | 105695668 |
| ENSE00000735877 | 105693299 | 105693486 |
| ENSE00000735885 | 105691976 | 105692135 |
| ENSE00000735915 | 105686692 | 105686838 |
| ENSE00001387082 | 105699850 | 105700014 |
| ENSE00001519403 | 105682627 | 105683317 |
| ENSE00001519414 | 105703648 | 105703809 |
| ENSE00002075774 | 105708638 | 105708689 |
Expression profiles
Bgee: expression breadth ubiquitous, 283 present calls, max score 91.98.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.1477 / max 88.6392, expressed in 1771 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 53474 | 7.9921 | 1771 |
| 53476 | 0.1556 | 93 |
Top tissues by expression
288 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 91.98 | gold quality |
| oocyte | CL:0000023 | 91.35 | gold quality |
| cortical plate | UBERON:0005343 | 91.14 | gold quality |
| secondary oocyte | CL:0000655 | 91.12 | gold quality |
| heart right ventricle | UBERON:0002080 | 90.15 | gold quality |
| islet of Langerhans | UBERON:0000006 | 89.80 | gold quality |
| gastrocnemius | UBERON:0001388 | 89.07 | gold quality |
| jejunal mucosa | UBERON:0000399 | 88.96 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 88.88 | gold quality |
| muscle of leg | UBERON:0001383 | 88.79 | gold quality |
| triceps brachii | UBERON:0001509 | 88.79 | gold quality |
| ganglionic eminence | UBERON:0004023 | 88.77 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 88.73 | gold quality |
| biceps brachii | UBERON:0001507 | 88.62 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 88.58 | gold quality |
| muscle organ | UBERON:0001630 | 88.10 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 88.02 | gold quality |
| calcaneal tendon | UBERON:0003701 | 87.68 | gold quality |
| rectum | UBERON:0001052 | 87.48 | gold quality |
| heart left ventricle | UBERON:0002084 | 87.40 | gold quality |
| jejunum | UBERON:0002115 | 87.40 | gold quality |
| cardiac ventricle | UBERON:0002082 | 87.36 | gold quality |
| myocardium | UBERON:0002349 | 87.36 | gold quality |
| thoracic aorta | UBERON:0001515 | 87.32 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 87.30 | gold quality |
| ascending aorta | UBERON:0001496 | 87.23 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 87.15 | gold quality |
| aorta | UBERON:0000947 | 87.08 | gold quality |
| pancreas | UBERON:0001264 | 87.07 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 87.07 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-119 | yes | 26.89 |
| E-ANND-3 | yes | 8.91 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
16 targeting INTS12, 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-8087 | 99.90 | 69.55 | 1351 |
| HSA-MIR-548D-3P | 99.87 | 70.67 | 4362 |
| HSA-MIR-548BB-3P | 99.86 | 70.58 | 4354 |
| HSA-MIR-548AC | 99.84 | 70.77 | 4351 |
| HSA-MIR-548H-3P | 99.84 | 70.80 | 4349 |
| HSA-MIR-548Z | 99.84 | 70.80 | 4349 |
| HSA-MIR-4517 | 99.76 | 69.19 | 1867 |
| HSA-MIR-154-3P | 99.50 | 70.05 | 831 |
| HSA-MIR-487A-3P | 99.50 | 69.95 | 840 |
| HSA-MIR-6083 | 99.47 | 68.73 | 2393 |
| HSA-MIR-5683 | 99.36 | 68.59 | 2083 |
| HSA-MIR-223-5P | 99.24 | 68.82 | 1206 |
| HSA-MIR-10399-5P | 99.17 | 69.87 | 2610 |
| HSA-MIR-6504-3P | 99.17 | 69.31 | 2891 |
| HSA-MIR-4477A | 98.83 | 69.75 | 2952 |
| HSA-MIR-12116 | 97.94 | 68.91 | 595 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 43.4% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 2)
- In fixed sections of human lung tissue, GSTCD protein expression was ubiquitous, whereas INTS12 expression was predominantly in epithelial cells and pneumocytes. (PMID:24058608)
- INTS12 activities on a genome-wide scale (PMID:28335732)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ints12 | ENSDARG00000091678 |
| mus_musculus | Ints12 | ENSMUSG00000028016 |
| rattus_norvegicus | Ints12 | ENSRNOG00000011844 |
| drosophila_melanogaster | IntS12 | FBGN0039459 |
| caenorhabditis_elegans | WBGENE00018778 | |
| caenorhabditis_elegans | WBGENE00020716 |
Protein
Protein identifiers
Integrator complex subunit 12 — Q96CB8 (reviewed: Q96CB8)
Alternative names: PHD finger protein 22
All UniProt accessions (7): Q96CB8, A0A1B0GX90, C9J0M6, C9JDP3, D6R9W3, D6R9Y5, E9PGI3
UniProt curated annotations — full annotation on UniProt →
Function. Component of the integrator complex, a multiprotein complex that terminates RNA polymerase II (Pol II) transcription in the promoter-proximal region of genes. The integrator complex provides a quality checkpoint during transcription elongation by driving premature transcription termination of transcripts that are unfavorably configured for transcriptional elongation: the complex terminates transcription by (1) catalyzing dephosphorylation of the C-terminal domain (CTD) of Pol II subunit POLR2A/RPB1 and SUPT5H/SPT5, (2) degrading the exiting nascent RNA transcript via endonuclease activity and (3) promoting the release of Pol II from bound DNA. The integrator complex is also involved in terminating the synthesis of non-coding Pol II transcripts, such as enhancer RNAs (eRNAs), small nuclear RNAs (snRNAs), telomerase RNAs and long non-coding RNAs (lncRNAs). Mediates recruitment of cytoplasmic dynein to the nuclear envelope, probably as component of the integrator complex.
Subunit / interactions. Component of the Integrator complex, composed of core subunits INTS1, INTS2, INTS3, INTS4, INTS5, INTS6, INTS7, INTS8, INTS9/RC74, INTS10, INTS11/CPSF3L, INTS12, INTS13, INTS14 and INTS15. The core complex associates with protein phosphatase 2A subunits PPP2CA and PPP2R1A, to form the Integrator-PP2A (INTAC) complex.
Subcellular location. Nucleus.
Post-translational modifications. Dephosphorylated at Ser-128 by the PNUTS-PP1 complex, promoting RNA polymerase II transcription pause-release.
Similarity. Belongs to the Integrator subunit 12 family.
RefSeq proteins (2): NP_001135943, NP_065128* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001965 | Znf_PHD | Domain |
| IPR011011 | Znf_FYVE_PHD | Homologous_superfamily |
| IPR013083 | Znf_RING/FYVE/PHD | Homologous_superfamily |
| IPR019786 | Zinc_finger_PHD-type_CS | Conserved_site |
| IPR019787 | Znf_PHD-finger | Domain |
| IPR039054 | Int12_PHD | Domain |
| IPR051776 | Integrator_subunit_12 | Family |
Pfam: PF00628
UniProt features (14 total): compositionally biased region 6, cross-link 2, region of interest 2, chain 1, zinc finger region 1, modified residue 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96CB8-F1 | 58.95 | 0.14 |
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 (3): 128, 68, 254
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-6807505 | RNA polymerase II transcribes snRNA genes |
| R-HSA-73857 | RNA Polymerase II Transcription |
| R-HSA-74160 | Gene expression (Transcription) |
MSigDB gene sets: 199 (showing top):
chr4q24, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GAUSSMANN_MLL_AF4_FUSION_TARGETS_E_UP, MARTINEZ_RB1_TARGETS_UP, GOBP_RNA_SURVEILLANCE, BRN2_01, E4F1_Q6, GOBP_DNA_TEMPLATED_TRANSCRIPTION_INITIATION, GOBP_TRANSCRIPTION_INITIATION_AT_RNA_POLYMERASE_II_PROMOTER, DODD_NASOPHARYNGEAL_CARCINOMA_UP, GOBP_SNRNA_PROCESSING, MARTINEZ_RB1_AND_TP53_TARGETS_UP, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, TAANNYSGCG_UNKNOWN, GOBP_REGULATION_OF_DNA_TEMPLATED_TRANSCRIPTION_ELONGATION
GO Biological Process (4): snRNA processing (GO:0016180), regulation of transcription elongation by RNA polymerase II (GO:0034243), snRNA 3’-end processing (GO:0034472), RNA polymerase II transcription initiation surveillance (GO:0160240)
GO Molecular Function (3): zinc ion binding (GO:0008270), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (4): nucleus (GO:0005634), nucleoplasm (GO:0005654), integrator complex (GO:0032039), INTAC complex (GO:0160232)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| RNA Polymerase II Transcription | 1 |
| Gene expression (Transcription) | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| nuclear protein-containing complex | 2 |
| RNA processing | 1 |
| snRNA metabolic process | 1 |
| transcription elongation by RNA polymerase II | 1 |
| regulation of DNA-templated transcription elongation | 1 |
| snRNA processing | 1 |
| RNA 3’-end processing | 1 |
| transcription initiation at RNA polymerase II promoter | 1 |
| nuclear RNA surveillance | 1 |
| transition metal ion binding | 1 |
| binding | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
| integrator complex | 1 |
Protein interactions and networks
STRING
1244 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| INTS12 | INTS11 | Q5TA45 | 976 |
| INTS12 | INTS1 | Q8N201 | 884 |
| INTS12 | INTS7 | Q9NVH2 | 879 |
| INTS12 | INTS9 | Q9NV88 | 852 |
| INTS12 | INTS5 | Q6P9B9 | 811 |
| INTS12 | INTS10 | Q9NVR2 | 811 |
| INTS12 | INTS4 | Q96HW7 | 810 |
| INTS12 | GSTCD | Q8NEC7 | 766 |
| INTS12 | INTS8 | Q75QN2 | 755 |
| INTS12 | POLR2A | P24928 | 713 |
| INTS12 | INTS6 | Q9UL03 | 694 |
| INTS12 | INTS3 | Q68E01 | 667 |
| INTS12 | INTS14 | Q96SY0 | 667 |
| INTS12 | INTS2 | Q9H0H0 | 665 |
| INTS12 | INTS13 | Q9NVM9 | 616 |
IntAct
173 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PPP2R1A | STRN | psi-mi:“MI:0914”(association) | 0.880 |
| GATAD2A | CDK2AP1 | psi-mi:“MI:0914”(association) | 0.730 |
| INTS12 | INTS1 | psi-mi:“MI:0915”(physical association) | 0.690 |
| POLR2C | SUPT5H | psi-mi:“MI:0914”(association) | 0.640 |
| ILVBL | COG7 | psi-mi:“MI:0914”(association) | 0.640 |
| YWHAH | BLTP3B | psi-mi:“MI:2364”(proximity) | 0.570 |
| HAPSTR1 | INTS12 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FAM9A | INTS12 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MAS1 | POTEF | psi-mi:“MI:0914”(association) | 0.530 |
| ST8SIA1 | POTEF | psi-mi:“MI:0914”(association) | 0.530 |
| APLNR | METTL15 | psi-mi:“MI:0914”(association) | 0.530 |
| IL13RA2 | METTL15 | psi-mi:“MI:0914”(association) | 0.530 |
| FZD10 | NRP1 | psi-mi:“MI:0914”(association) | 0.530 |
| POLR2I | SUPT5H | psi-mi:“MI:0914”(association) | 0.530 |
| POLR2J | SUPT5H | psi-mi:“MI:0914”(association) | 0.530 |
| SUPT5H | POLR2D | psi-mi:“MI:0914”(association) | 0.530 |
| CXCR4 | TMEM120B | psi-mi:“MI:0914”(association) | 0.530 |
| ILVBL | SLC33A1 | psi-mi:“MI:0914”(association) | 0.530 |
| INTS12 | GTF2IRD1 | psi-mi:“MI:0915”(physical association) | 0.510 |
| GTF2IRD1 | INTS12 | psi-mi:“MI:0915”(physical association) | 0.510 |
| TAS2R7 | ATP2B4 | psi-mi:“MI:0914”(association) | 0.500 |
| PPP2CA | SMCO3 | psi-mi:“MI:0914”(association) | 0.420 |
| INTS12 | CALU | psi-mi:“MI:0915”(physical association) | 0.400 |
| ECE1 | INTS12 | psi-mi:“MI:0915”(physical association) | 0.370 |
| Ppp2r1a | CCHCR1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (156): INTS12 (Affinity Capture-MS), INTS12 (Affinity Capture-MS), INTS12 (Affinity Capture-MS), INTS12 (Affinity Capture-MS), INTS12 (Affinity Capture-MS), INTS12 (Affinity Capture-MS), INTS12 (Affinity Capture-MS), INTS1 (Co-fractionation), INTS12 (Affinity Capture-MS), INTS12 (Affinity Capture-MS), INTS12 (Affinity Capture-MS), INTS12 (Affinity Capture-MS), INTS12 (Affinity Capture-MS), INTS12 (Affinity Capture-MS), INTS12 (Affinity Capture-MS)
ESM2 similar proteins: A1Z9E2, B0R0I6, B5DE69, G5ED89, O94842, P25425, P32519, P34333, P34447, Q02086, Q08CM4, Q09XV5, Q0IHV2, Q0P5K4, Q0V9U1, Q15723, Q28BL7, Q3TUF7, Q571G4, Q5E9U0, Q5F3U0, Q5R6A9, Q5RBN8, Q5RCV7, Q60775, Q641Z1, Q6DJM6, Q6IQU7, Q6MZP7, Q7Z589, Q7ZUV7, Q7ZX03, Q86NP2, Q8AYC1, Q8BIH0, Q8BMB0, Q8BU11, Q8CHI8, Q8IRW8, Q8WNV2
Diamond homologs: O43189, Q02395, Q0V9U1, Q24459, Q32LL5, Q5R7T9, Q5RCV7, Q5T6S3, Q68FR3, Q6DJM6, Q6IQU7, Q8WNV2, Q96CB8, Q9CXG9, Q9D168, Q9VBB3, Q9Y483, Q9Z1B8
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| INTS12 | “form complex” | “Integrator complex” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 212 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 |
|---|---|---|---|
| FGFR2 mutant receptor activation | 8 | 41.1× | 3e-10 |
| Abortive elongation of HIV-1 transcript in the absence of Tat | 10 | 33.5× | 3e-11 |
| Signaling by FGFR2 IIIa TM | 8 | 32.5× | 2e-09 |
| MicroRNA (miRNA) biogenesis | 9 | 27.8× | 6e-10 |
| Signaling by FGFR2 | 10 | 27.6× | 1e-10 |
| Pausing and recovery of Tat-mediated HIV elongation | 11 | 27.4× | 3e-11 |
| Tat-mediated HIV elongation arrest and recovery | 11 | 27.4× | 3e-11 |
| Activation of HOX genes during differentiation | 9 | 26.7× | 9e-10 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| RNA polymerase II transcription initiation surveillance | 5 | 22.6× | 3e-03 |
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 | 0 |
| Uncertain significance | 41 |
| Likely benign | 4 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3464 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 4:105686687:TATAC:T | donor_loss | 1.0000 |
| 4:105686688:ATACC:A | donor_loss | 1.0000 |
| 4:105686689:TACC:T | donor_loss | 1.0000 |
| 4:105686690:ACCTT:A | donor_loss | 1.0000 |
| 4:105686837:GCCT:G | acceptor_loss | 1.0000 |
| 4:105686850:A:T | acceptor_gain | 1.0000 |
| 4:105691975:CCATT:C | donor_gain | 1.0000 |
| 4:105693294:CTTA:C | donor_loss | 1.0000 |
| 4:105693295:TTA:T | donor_loss | 1.0000 |
| 4:105693297:A:AC | donor_gain | 1.0000 |
| 4:105693297:A:C | donor_loss | 1.0000 |
| 4:105693297:AC:A | donor_gain | 1.0000 |
| 4:105693298:C:CC | donor_gain | 1.0000 |
| 4:105693298:CC:C | donor_gain | 1.0000 |
| 4:105693298:CCT:C | donor_gain | 1.0000 |
| 4:105693298:CCTA:C | donor_gain | 1.0000 |
| 4:105693482:TTCAT:T | acceptor_gain | 1.0000 |
| 4:105693483:TCAT:T | acceptor_gain | 1.0000 |
| 4:105693484:CAT:C | acceptor_gain | 1.0000 |
| 4:105693484:CATC:C | acceptor_gain | 1.0000 |
| 4:105693485:AT:A | acceptor_gain | 1.0000 |
| 4:105693487:C:CC | acceptor_gain | 1.0000 |
| 4:105693488:T:G | acceptor_loss | 1.0000 |
| 4:105693489:A:C | acceptor_gain | 1.0000 |
| 4:105693504:C:CT | acceptor_gain | 1.0000 |
| 4:105693505:A:T | acceptor_gain | 1.0000 |
| 4:105695510:TCTTA:T | donor_loss | 1.0000 |
| 4:105695512:TTA:T | donor_loss | 1.0000 |
| 4:105695514:A:AC | donor_gain | 1.0000 |
| 4:105695515:C:CG | donor_gain | 1.0000 |
AlphaMissense
2996 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 4:105682779:A:G | L448S | 0.998 |
| 4:105691998:C:G | C212S | 0.998 |
| 4:105691999:A:G | C212R | 0.998 |
| 4:105691999:A:T | C212S | 0.998 |
| 4:105692007:C:T | C209Y | 0.998 |
| 4:105692008:A:G | C209R | 0.998 |
| 4:105699905:A:G | L34P | 0.998 |
| 4:105699914:A:G | L31P | 0.998 |
| 4:105699968:A:G | F13S | 0.998 |
| 4:105692006:A:C | C209W | 0.997 |
| 4:105692007:C:G | C209S | 0.997 |
| 4:105692008:A:T | C209S | 0.997 |
| 4:105692014:A:G | W207R | 0.997 |
| 4:105692014:A:T | W207R | 0.997 |
| 4:105692089:A:G | C182R | 0.997 |
| 4:105692098:A:G | C179R | 0.997 |
| 4:105693312:A:G | C162R | 0.997 |
| 4:105699956:A:G | L17P | 0.997 |
| 4:105691997:A:C | C212W | 0.996 |
| 4:105692074:G:C | H187D | 0.996 |
| 4:105692088:C:G | C182S | 0.996 |
| 4:105692089:A:T | C182S | 0.996 |
| 4:105692097:C:G | C179S | 0.996 |
| 4:105692098:A:T | C179S | 0.996 |
| 4:105693303:A:G | C165R | 0.996 |
| 4:105693310:G:C | C162W | 0.996 |
| 4:105693311:C:T | C162Y | 0.996 |
| 4:105699959:G:T | A16E | 0.996 |
| 4:105682766:C:A | K452N | 0.995 |
| 4:105682766:C:G | K452N | 0.995 |
dbSNP variants (sampled 300 via entrez): RS1000025192 (4:105701632 A>G), RS1000169514 (4:105694973 G>A), RS1000263456 (4:105709236 T>C), RS1000296049 (4:105708970 C>G), RS1000304162 (4:105708087 T>G), RS1000340908 (4:105687537 T>C), RS1000494007 (4:105703180 C>A,T), RS1000509394 (4:105683598 A>C), RS1000539314 (4:105703488 T>C), RS1000692093 (4:105691366 A>C), RS10008158 (4:105683066 G>A), RS1000820461 (4:105697902 T>C), RS1000844087 (4:105682353 A>G), RS1000873081 (4:105698118 A>G), RS1001506339 (4:105688050 C>G)
Disease associations
OMIM: gene MIM:611355 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
10 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000542_6 | Pulmonary function | 5.000000e-17 |
| GCST001784_49 | Pulmonary function (smoking interaction) | 1.000000e-16 |
| GCST002165_9 | Lung function (FEV1) | 1.000000e-07 |
| GCST003262_462 | Post bronchodilator FEV1 | 5.000000e-06 |
| GCST003262_463 | Post bronchodilator FEV1 | 4.000000e-06 |
| GCST003262_888 | Post bronchodilator FEV1 | 5.000000e-06 |
| GCST003542_180 | Night sleep phenotypes | 4.000000e-06 |
| GCST004554_1 | Weight | 3.000000e-08 |
| GCST007692_16 | Chronic obstructive pulmonary disease | 5.000000e-15 |
| GCST009798_66 | Asthma | 4.000000e-09 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0003892 | pulmonary function measurement |
| EFO:0004314 | forced expiratory volume |
| EFO:0004338 | body weight |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
16 total (human), top 16 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| FR900359 | affects phosphorylation | 1 |
| TAK-243 | increases sumoylation | 1 |
| dicrotophos | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| coumarin | increases phosphorylation | 1 |
| CGP 52608 | increases reaction, affects binding | 1 |
| abrine | increases expression | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Caffeine | increases phosphorylation | 1 |
| Phenobarbital | affects expression | 1 |
| Tetrachlorodibenzodioxin | decreases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Cyclosporine | increases expression | 1 |
| Aflatoxin B1 | increases expression | 1 |
| Particulate Matter | increases expression, increases abundance | 1 |
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.