GTF2IRD2
gene geneOn this page
Also known as FLJ37938GTF2IRD2A
Summary
GTF2IRD2 (GTF2I repeat domain containing 2, HGNC:30775) is a protein-coding gene on chromosome 7q11.23, encoding General transcription factor II-I repeat domain-containing protein 2A (Q86UP8).
This gene is one of several closely related genes on chromosome 7 encoding proteins containing helix-loop-helix motifs. These proteins may function as regulators of transcription. The encoded protein is unique in that its C-terminus is derived from CHARLIE8 transposable element sequence. This gene is located in a region of chromosome 7 that is deleted in Williams-Beuren syndrome, and loss of this locus may contribute to the cognitive phenotypes observed in this disease. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 84163 — RefSeq curated summary.
At a glance
- GWAS associations: 5
- Clinical variants (ClinVar): 33 total
- Phenotypes (HPO): 186
- Dosage sensitivity (ClinGen): haploinsufficiency no evidence, triplosensitivity no evidence
- MANE Select transcript:
NM_173537
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30775 |
| Approved symbol | GTF2IRD2 |
| Name | GTF2I repeat domain containing 2 |
| Location | 7q11.23 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ37938, GTF2IRD2A |
| Ensembl gene | ENSG00000196275 |
| Ensembl biotype | protein_coding |
| OMIM | 608899 |
| Entrez | 84163 |
Gene structure
Transcript identifiers
Ensembl transcripts: 27 — 22 protein_coding, 3 retained_intron, 2 protein_coding_CDS_not_defined
ENST00000451013, ENST00000478628, ENST00000484624, ENST00000610955, ENST00000614386, ENST00000619775, ENST00000651129, ENST00000652362, ENST00000907793, ENST00000907794, ENST00000907795, ENST00000907796, ENST00000907797, ENST00000907798, ENST00000907799, ENST00000907800, ENST00000907801, ENST00000907802, ENST00000907803, ENST00000966521, ENST00000966522, ENST00000966523, ENST00000966524, ENST00000966525, ENST00000966526, ENST00000966527, ENST00000966528
RefSeq mRNA: 15 — MANE Select: NM_173537
NM_001281447, NM_001368300, NM_001388079, NM_001388080, NM_001388081, NM_001388082, NM_001388083, NM_001388084, NM_001388085, NM_001388086, NM_001388087, NM_001388088, NM_001388089, NM_001388460, NM_173537
CCDS: CCDS5576, CCDS64682, CCDS94122
Canonical transcript exons
ENST00000451013 — 16 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002207312 | 74796151 | 74798265 |
| ENSE00003738756 | 74851367 | 74851605 |
| ENSE00003925714 | 74812739 | 74812816 |
| ENSE00003925891 | 74804777 | 74804860 |
| ENSE00003927295 | 74809108 | 74809173 |
| ENSE00003927816 | 74832805 | 74832943 |
| ENSE00003929790 | 74819969 | 74820023 |
| ENSE00003931782 | 74836280 | 74836383 |
| ENSE00003932683 | 74810896 | 74810952 |
| ENSE00003933043 | 74822624 | 74822807 |
| ENSE00003935495 | 74803298 | 74803481 |
| ENSE00003936376 | 74824933 | 74825052 |
| ENSE00003936631 | 74822427 | 74822455 |
| ENSE00003937054 | 74819554 | 74819597 |
| ENSE00003938187 | 74801985 | 74802013 |
| ENSE00003938596 | 74806934 | 74807011 |
Expression profiles
Bgee: expression breadth ubiquitous, 134 present calls, max score 93.69.
Top tissues by expression
134 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right uterine tube | UBERON:0001302 | 93.69 | gold quality |
| left ovary | UBERON:0002119 | 91.49 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 90.76 | gold quality |
| ovary | UBERON:0000992 | 90.73 | gold quality |
| mucosa of stomach | UBERON:0001199 | 90.46 | gold quality |
| muscle of leg | UBERON:0001383 | 90.46 | gold quality |
| endocervix | UBERON:0000458 | 90.38 | gold quality |
| apex of heart | UBERON:0002098 | 90.34 | gold quality |
| gastrocnemius | UBERON:0001388 | 90.33 | gold quality |
| right ovary | UBERON:0002118 | 89.95 | gold quality |
| prostate gland | UBERON:0002367 | 89.68 | gold quality |
| calcaneal tendon | UBERON:0003701 | 89.54 | gold quality |
| sural nerve | UBERON:0015488 | 89.51 | gold quality |
| fundus of stomach | UBERON:0001160 | 89.33 | gold quality |
| muscle tissue | UBERON:0002385 | 89.23 | gold quality |
| body of pancreas | UBERON:0001150 | 89.22 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 89.21 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 89.20 | gold quality |
| thyroid gland | UBERON:0002046 | 89.14 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 89.02 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 88.99 | gold quality |
| body of uterus | UBERON:0009853 | 88.88 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 88.88 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 88.83 | gold quality |
| lower esophagus | UBERON:0013473 | 88.80 | gold quality |
| body of stomach | UBERON:0001161 | 88.56 | gold quality |
| metanephros cortex | UBERON:0010533 | 88.54 | gold quality |
| uterine cervix | UBERON:0000002 | 88.49 | gold quality |
| minor salivary gland | UBERON:0001830 | 88.24 | gold quality |
| thoracic mammary gland | UBERON:0005200 | 88.21 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 8.85 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
35 targeting GTF2IRD2, 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-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-150-5P | 99.99 | 66.69 | 1976 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-4760-3P | 99.93 | 70.50 | 2385 |
| HSA-MIR-380-3P | 99.89 | 70.18 | 1978 |
| HSA-MIR-5582-3P | 99.86 | 72.48 | 4221 |
| HSA-MIR-548AR-3P | 99.85 | 71.26 | 3889 |
| HSA-MIR-548AZ-3P | 99.82 | 70.56 | 3549 |
| HSA-MIR-548BC | 99.82 | 70.61 | 3524 |
| HSA-MIR-548E-3P | 99.82 | 70.59 | 3514 |
| HSA-MIR-548F-3P | 99.82 | 70.59 | 3540 |
| HSA-MIR-548A-3P | 99.76 | 70.58 | 3524 |
| HSA-MIR-3158-5P | 99.65 | 67.51 | 1763 |
| HSA-MIR-1827 | 99.63 | 68.57 | 3265 |
| HSA-MIR-1260A | 99.61 | 66.67 | 1098 |
| HSA-MIR-1260B | 99.61 | 66.67 | 1098 |
| HSA-MIR-12117 | 99.50 | 67.57 | 868 |
| HSA-MIR-5689 | 99.50 | 71.26 | 1154 |
| HSA-MIR-4762-3P | 99.43 | 69.72 | 2363 |
| HSA-MIR-4316 | 99.37 | 65.75 | 1360 |
| HSA-MIR-2054 | 99.20 | 68.89 | 1699 |
| HSA-MIR-1294 | 98.91 | 69.26 | 1030 |
| HSA-MIR-9986 | 98.91 | 69.28 | 1024 |
| HSA-MIR-520G-3P | 98.91 | 67.38 | 1914 |
| HSA-MIR-520H | 98.91 | 67.38 | 1914 |
| HSA-MIR-4755-3P | 98.77 | 65.59 | 1915 |
| HSA-MIR-7977 | 98.65 | 66.18 | 2590 |
| HSA-MIR-4768-3P | 98.16 | 66.02 | 2330 |
Functional genomics
ClinGen dosage: haploinsufficiency 0 (no evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map
Literature-anchored findings (GeneRIF, showing 5)
- Williams-Beuren syndrome patients are hemizygous for the GTF2IRD2 gene. (PMID:15100712)
- GTF2IRD2 genes in mice and humans allows refinement of the centromeric breakpoint position of the primate-specific inversion within the Williams-Beuren syndrome critical region. (PMID:15243160)
- There is high indentity between CTF2IRD2 and CTF2I, which suggests that heterodimers as well as homodimers are possible, and indicates overlapping functions between their respective short isoforms. (PMID:15388857)
- We provide the first evidence for a role for GTF2IRD2 in higher-level (executive functioning) abilities and highlight the importance of integrating detailed molecular characterisation of patients with comprehensive neuropsychological profiling (PMID:23118870)
- atypical Williams Syndrome patients with GTF2IRD2 deletion had more impaired visuospatial abilities and more significant behavioral problems, mainly related to the construct of social cognition (PMID:30375319)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Gtf2ird2 | ENSMUSG00000015942 |
| rattus_norvegicus | Gtf2ird2 | ENSRNOG00000001482 |
Paralogs (18): GTF2IRD1 (ENSG00000006704), ZMYM2 (ENSG00000121741), ZMYM5 (ENSG00000132950), THAP12 (ENSG00000137492), ZMYM4 (ENSG00000146463), ZMYM3 (ENSG00000147130), ZMYM6 (ENSG00000163867), KIAA1958 (ENSG00000165185), GTF2IRD2B (ENSG00000174428), EPM2AIP1 (ENSG00000178567), ZMYM1 (ENSG00000197056), QRICH1 (ENSG00000198218), FAM200C (ENSG00000221886), FAM200A (ENSG00000221909), SCAND3 (ENSG00000232040), ZBED5 (ENSG00000236287), FAM200B (ENSG00000237765), GTF2I (ENSG00000263001)
Protein
Protein identifiers
General transcription factor II-I repeat domain-containing protein 2A — Q86UP8 (reviewed: Q86UP8)
Alternative names: Transcription factor GTF2IRD2-alpha
All UniProt accessions (2): A0A494C0I1, Q86UP8
UniProt curated annotations — full annotation on UniProt →
Subcellular location. Nucleus.
Tissue specificity. Ubiquitous.
Disease relevance. GTF2IRD2 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region.
Similarity. Belongs to the TFII-I family.
Isoforms (6)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q86UP8-1 | 1 | yes |
| Q86UP8-2 | 2 | |
| Q86UP8-3 | 3 | |
| Q86UP8-4 | 4 | |
| Q86UP8-5 | 5 | |
| Q86UP8-6 | 6 |
RefSeq proteins (15): NP_001268376, NP_001355229, NP_001375008, NP_001375009, NP_001375010, NP_001375011, NP_001375012, NP_001375013, NP_001375014, NP_001375015, NP_001375016, NP_001375017, NP_001375018, NP_001375389, NP_775808* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR004212 | GTF2I | Repeat |
| IPR012337 | RNaseH-like_sf | Homologous_superfamily |
| IPR036647 | GTF2I-like_rpt_sf | Homologous_superfamily |
| IPR042224 | GTF2IRD2 | Family |
Pfam: PF02946
UniProt features (17 total): splice variant 8, sequence conflict 5, repeat 2, chain 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q86UP8-F1 | 73.24 | 0.33 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 495 (showing top):
chr7q11, ACEVEDO_LIVER_CANCER_UP, YAGI_AML_SURVIVAL, WANG_RESPONSE_TO_GSK3_INHIBITOR_SB216763_UP, KOINUMA_TARGETS_OF_SMAD2_OR_SMAD3, PEDRIOLI_MIR31_TARGETS_DN, ZWANG_DOWN_BY_2ND_EGF_PULSE, GSE5503_MLN_DC_VS_SPLEEN_DC_ACTIVATED_ALLOGENIC_TCELL_UP, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, MIR616_5P, MIR371B_5P, MIR373_5P, MIR548AR_3P, MIR548F_3P, MIR548BC
GO Biological Process (2): regulation of transcription by RNA polymerase II (GO:0006357), SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition (GO:0006617)
GO Molecular Function (3): DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA binding (GO:0003677), protein binding (GO:0005515)
GO Cellular Component (2): nucleus (GO:0005634), signal recognition particle, endoplasmic reticulum targeting (GO:0005786)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| regulation of DNA-templated transcription | 1 |
| transcription by RNA polymerase II | 1 |
| SRP-dependent cotranslational protein targeting to membrane | 1 |
| protein-containing complex assembly | 1 |
| chromatin | 1 |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 1 |
| DNA-binding transcription factor activity | 1 |
| regulation of transcription by RNA polymerase II | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| signal recognition particle | 1 |
Protein interactions and networks
STRING
548 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| GTF2IRD2 | NCF1 | P14598 | 787 |
| GTF2IRD2 | ELN | P15502 | 641 |
| GTF2IRD2 | TBL2 | Q9Y4P3 | 637 |
| GTF2IRD2 | TRIM50 | Q86XT4 | 618 |
| GTF2IRD2 | NSUN5 | Q96P11 | 579 |
| GTF2IRD2 | BCL7B | Q9BQE9 | 547 |
| GTF2IRD2 | CLIP2 | Q9UDT6 | 539 |
| GTF2IRD2 | EIF4H | Q15056 | 530 |
| GTF2IRD2 | FKBP6 | O75344 | 502 |
| GTF2IRD2 | FKBP10 | Q96AY3 | 482 |
| GTF2IRD2 | AGT | P01019 | 469 |
| GTF2IRD2 | ZNF805 | Q5CZA5 | 432 |
| GTF2IRD2 | DNAJC30 | Q96LL9 | 419 |
| GTF2IRD2 | FZD9 | O00144 | 418 |
| GTF2IRD2 | SRGAP2C | P0DJJ0 | 417 |
IntAct
16 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| GTF2IRD2 | TRIM54 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TRIM54 | GTF2IRD2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GTF2IRD2 | HSP90AB1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| GTF2IRD2 | MLF1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| Hacd3 | GTF2IRD2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| GTF2IRD2 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| PSMD2 | GTF2IRD2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| GTF2IRD2 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| GTF2IRD2 | CDC37 | psi-mi:“MI:0915”(physical association) | 0.400 |
| AARSD1 | GTF2IRD2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| P | psi-mi:“MI:0914”(association) | 0.350 | |
| GTF2IRD2 | GTF2I | psi-mi:“MI:0914”(association) | 0.350 |
| GPC3 | PXDNL | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (15): GTF2IRD2 (Two-hybrid), GTF2IRD2 (Affinity Capture-MS), GTF2IRD2 (Affinity Capture-MS), GTF2IRD2 (Affinity Capture-MS), GTF2IRD2 (Affinity Capture-MS), GTF2IRD1 (Affinity Capture-MS), GTF2I (Affinity Capture-MS), UBE2Z (Affinity Capture-MS), GTF2IRD2B (Affinity Capture-MS), GTF2IRD2 (Cross-Linking-MS (XL-MS)), GTF2IRD2 (Cross-Linking-MS (XL-MS)), GTF2IRD2 (Affinity Capture-MS), GTF2IRD2 (Two-hybrid), GTF2IRD2 (Affinity Capture-Luminescence), GTF2IRD2 (Two-hybrid)
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: A4IFA3, A7MB80, B7ZQJ9, P78347, Q5U2Y1, Q6EKJ0, Q86UP8, Q99NI3, Q9ESZ8, Q9JI57, Q9UHL9
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
33 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 22 |
| Likely benign | 7 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2419 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:74803293:CTTA:C | donor_gain | 1.0000 |
| 7:74803297:C:CG | donor_loss | 1.0000 |
| 7:74804770:AACTT:A | donor_loss | 1.0000 |
| 7:74804771:ACTT:A | donor_loss | 1.0000 |
| 7:74804772:CTT:C | donor_loss | 1.0000 |
| 7:74804773:TTA:T | donor_loss | 1.0000 |
| 7:74804774:TA:T | donor_loss | 1.0000 |
| 7:74804775:A:AC | donor_gain | 1.0000 |
| 7:74804775:AC:A | donor_gain | 1.0000 |
| 7:74804776:C:CG | donor_gain | 1.0000 |
| 7:74804776:CC:C | donor_gain | 1.0000 |
| 7:74804776:CCA:C | donor_gain | 1.0000 |
| 7:74804776:CCAA:C | donor_gain | 1.0000 |
| 7:74804776:CCAAA:C | donor_gain | 1.0000 |
| 7:74804856:ATTAT:A | acceptor_gain | 1.0000 |
| 7:74804857:TTAT:T | acceptor_gain | 1.0000 |
| 7:74804858:TAT:T | acceptor_gain | 1.0000 |
| 7:74804859:AT:A | acceptor_gain | 1.0000 |
| 7:74804859:ATC:A | acceptor_loss | 1.0000 |
| 7:74804860:TCTAA:T | acceptor_loss | 1.0000 |
| 7:74804861:C:CC | acceptor_gain | 1.0000 |
| 7:74804867:A:AC | acceptor_gain | 1.0000 |
| 7:74804867:A:C | acceptor_gain | 1.0000 |
| 7:74804870:A:AC | acceptor_gain | 1.0000 |
| 7:74804871:T:C | acceptor_gain | 1.0000 |
| 7:74804871:T:TC | acceptor_gain | 1.0000 |
| 7:74807012:C:CC | acceptor_gain | 1.0000 |
| 7:74807013:T:C | acceptor_gain | 1.0000 |
| 7:74812733:TATTA:T | donor_loss | 1.0000 |
| 7:74812735:TTA:T | donor_loss | 1.0000 |
AlphaMissense
6294 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 7:74798218:A:G | W432R | 1.000 |
| 7:74798218:A:T | W432R | 1.000 |
| 7:74798216:C:A | W432C | 0.999 |
| 7:74798216:C:G | W432C | 0.999 |
| 7:74798228:A:C | F428L | 0.998 |
| 7:74798228:A:T | F428L | 0.998 |
| 7:74798229:A:G | F428S | 0.998 |
| 7:74798230:A:G | F428L | 0.998 |
| 7:74798257:G:T | R419S | 0.998 |
| 7:74803310:A:G | F402S | 0.998 |
| 7:74804794:A:G | L339P | 0.998 |
| 7:74804803:A:T | V336D | 0.998 |
| 7:74798121:C:G | R464P | 0.997 |
| 7:74798138:T:A | K458N | 0.997 |
| 7:74798138:T:G | K458N | 0.997 |
| 7:74798139:T:A | K458I | 0.997 |
| 7:74798173:A:G | C447R | 0.997 |
| 7:74798229:A:C | F428C | 0.997 |
| 7:74803361:A:G | L385P | 0.997 |
| 7:74803379:A:G | F379S | 0.997 |
| 7:74804791:A:G | F340S | 0.997 |
| 7:74797667:G:C | S615R | 0.996 |
| 7:74797667:G:T | S615R | 0.996 |
| 7:74797669:T:G | S615R | 0.996 |
| 7:74798116:A:C | Y466D | 0.996 |
| 7:74798127:A:G | L462P | 0.996 |
| 7:74798217:C:G | W432S | 0.996 |
| 7:74803412:A:T | V368E | 0.996 |
| 7:74803433:A:C | I361S | 0.996 |
| 7:74803433:A:G | I361T | 0.996 |
dbSNP variants (sampled 300 via entrez): RS10225848 (7:74805436 G>A), RS111340667 (7:74833721 A>T), RS111449690 (7:74807855 T>C), RS111471245 (7:74835922 T>C,G), RS111757525 (7:74805881 G>A,T), RS112022464 (7:74800203 T>C), RS112148398 (7:74834767 T>G), RS112446134 (7:74813441 G>C,T), RS113157837 (7:74831058 T>A), RS113191694 (7:74801769 G>C), RS113533859 (7:74813400 A>G), RS1137618 (7:74796434 C>G,T), RS1137619 (7:74796419 A>G), RS113815546 (7:74800705 T>C,G), RS115501971 (7:74830053 G>C)
Disease associations
OMIM: gene MIM:608899 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
186 total (30 of 186 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000010 | Recurrent urinary tract infections |
| HP:0000014 | Abnormality of the bladder |
| HP:0000015 | Bladder diverticulum |
| HP:0000023 | Inguinal hernia |
| HP:0000025 | Functional abnormality of male internal genitalia |
| HP:0000028 | Cryptorchidism |
| HP:0000044 | Hypogonadotropic hypogonadism |
| HP:0000075 | Renal duplication |
| HP:0000076 | Vesicoureteral reflux |
| HP:0000083 | Renal insufficiency |
| HP:0000089 | Renal hypoplasia |
| HP:0000093 | Proteinuria |
| HP:0000121 | Nephrocalcinosis |
| HP:0000125 | Pelvic kidney |
| HP:0000147 | Polycystic ovaries |
| HP:0000154 | Wide mouth |
| HP:0000158 | Macroglossia |
| HP:0000179 | Thick lower lip vermilion |
| HP:0000212 | Gingival overgrowth |
| HP:0000232 | Everted lower lip vermilion |
| HP:0000252 | Microcephaly |
| HP:0000275 | Narrow face |
| HP:0000280 | Coarse facial features |
| HP:0000286 | Epicanthus |
| HP:0000307 | Pointed chin |
| HP:0000337 | Broad forehead |
| HP:0000343 | Long philtrum |
| HP:0000347 | Micrognathia |
| HP:0000348 | High forehead |
| HP:0000358 | Posteriorly rotated ears |
GWAS associations
5 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004621_113 | Red cell distribution width | 5.000000e-18 |
| GCST006414_123 | Atrial fibrillation | 3.000000e-10 |
| GCST006804_68 | Red cell distribution width | 2.000000e-12 |
| GCST010988_158 | Adult body size | 2.000000e-08 |
| GCST90002404_289 | Red cell distribution width | 2.000000e-25 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0009188 | Red cell distribution width |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
36 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression | 6 |
| bisphenol A | affects cotreatment, increases expression, decreases expression | 2 |
| trichostatin A | affects cotreatment, decreases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| bisphenol F | affects cotreatment, increases expression | 1 |
| sotorasib | increases expression, affects cotreatment | 1 |
| propionaldehyde | decreases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| pentanal | decreases expression | 1 |
| 15-acetyldeoxynivalenol | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| entinostat | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| abrine | increases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| NSC 689534 | affects binding, increases expression | 1 |
| trametinib | increases expression, affects cotreatment | 1 |
| NVP-BKM120 | affects cotreatment, increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Vorinostat | decreases expression | 1 |
| Air Pollutants | decreases expression | 1 |
| Aldehydes | decreases expression | 1 |
| Benzo(a)pyrene | decreases expression | 1 |
| Copper | affects binding, increases expression | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Rifampin | increases expression | 1 |
| Silicon Dioxide | decreases expression | 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.