HIC2
geneOn this page
Also known as KIAA1020HRG22ZBTB30ZNF907
Summary
HIC2 (HIC ZBTB transcriptional repressor 2, HGNC:18595) is a protein-coding gene on chromosome 22q11.21, encoding Hypermethylated in cancer 2 protein (Q96JB3). Transcriptional repressor.
Predicted to enable DNA-binding transcription repressor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in negative regulation of transcription by RNA polymerase II; regulation of cytokine production; and regulation of immune system process. Located in nucleoplasm and plasma membrane.
Source: NCBI Gene 23119 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 113 total — 2 pathogenic
- MANE Select transcript:
NM_015094
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:18595 |
| Approved symbol | HIC2 |
| Name | HIC ZBTB transcriptional repressor 2 |
| Location | 22q11.21 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA1020, HRG22, ZBTB30, ZNF907 |
| Ensembl gene | ENSG00000169635 |
| Ensembl biotype | protein_coding |
| OMIM | 607712 |
| Entrez | 23119 |
Gene structure
Transcript identifiers
Ensembl transcripts: 5 — 5 protein_coding
ENST00000407464, ENST00000407598, ENST00000443632, ENST00000927189, ENST00000927190
RefSeq mRNA: 1 — MANE Select: NM_015094
NM_015094
CCDS: CCDS13789
Canonical transcript exons
ENST00000407464 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001372561 | 21417371 | 21417560 |
| ENSE00001385660 | 21442759 | 21442857 |
| ENSE00001548117 | 21444922 | 21451463 |
Expression profiles
Bgee: expression breadth ubiquitous, 260 present calls, max score 99.20.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4.5431 / max 107.5337, expressed in 1351 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 191184 | 4.3510 | 1320 |
| 209399 | 0.1922 | 69 |
Top tissues by expression
287 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 99.20 | gold quality |
| oocyte | CL:0000023 | 98.65 | gold quality |
| amniotic fluid | UBERON:0000173 | 90.45 | gold quality |
| endothelial cell | CL:0000115 | 88.34 | gold quality |
| placenta | UBERON:0001987 | 87.69 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 87.43 | silver quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 83.26 | gold quality |
| vena cava | UBERON:0004087 | 82.11 | silver quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 81.61 | gold quality |
| parotid gland | UBERON:0001831 | 81.18 | gold quality |
| CA1 field of hippocampus | UBERON:0003881 | 81.16 | silver quality |
| gingival epithelium | UBERON:0001949 | 79.97 | silver quality |
| pancreatic ductal cell | CL:0002079 | 79.93 | silver quality |
| squamous epithelium | UBERON:0006914 | 79.64 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 79.56 | gold quality |
| thymus | UBERON:0002370 | 79.56 | silver quality |
| embryo | UBERON:0000922 | 79.24 | gold quality |
| cerebellar vermis | UBERON:0004720 | 79.10 | gold quality |
| sperm | CL:0000019 | 78.85 | silver quality |
| gingiva | UBERON:0001828 | 78.82 | gold quality |
| triceps brachii | UBERON:0001509 | 78.49 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 78.44 | gold quality |
| male germ cell | CL:0000015 | 77.96 | silver quality |
| oviduct epithelium | UBERON:0004804 | 77.24 | silver quality |
| esophagus squamous epithelium | UBERON:0006920 | 77.01 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 76.98 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 76.97 | silver quality |
| gluteal muscle | UBERON:0002000 | 76.79 | gold quality |
| primary visual cortex | UBERON:0002436 | 76.62 | gold quality |
| oral cavity | UBERON:0000167 | 76.21 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-10018 | yes | 153.78 |
| E-ANND-3 | no | 2.10 |
Regulation
Is transcription factor: yes
JASPAR motifs
| Motif | Name | Family |
|---|---|---|
| MA0738.1 | HIC2 | Factors with multiple dispersed zinc fingers |
| MA0738.2 | HIC2 | Factors with multiple dispersed zinc fingers |
JASPAR matrix evidence (PMIDs): PMID:15231840
miRNA regulators (miRDB)
303 targeting HIC2, 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-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| 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-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-4481 | 100.00 | 66.42 | 1669 |
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-LET-7A-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7B-5P | 99.98 | 72.31 | 1790 |
| HSA-LET-7C-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7E-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7F-5P | 99.98 | 72.56 | 1784 |
| HSA-LET-7G-5P | 99.98 | 72.37 | 1784 |
| HSA-LET-7I-5P | 99.98 | 72.37 | 1788 |
| HSA-MIR-98-5P | 99.98 | 72.33 | 1787 |
Literature-anchored findings (GeneRIF, showing 6)
- HIC1 and HRG22 define a subgroup of BTB/POZ domains unable to recruit repressing complexes containing a histone deacetylase activity. (PMID:11554746)
- data suggest that HIC2 haploinsufficiency likely contributes to the cardiac defects seen in distal 22q11 deletion syndrome (PMID:24748541)
- HIC2 is a pivotal transcriptional activator of SIRT1 (PMID:31127867)
- HIC2 controls developmental hemoglobin switching by repressing BCL11A transcription. (PMID:35941187)
- Hypermethylation of HIC2 is a potential prognostic biomarker and tumor suppressor of glioma based on bioinformatics analysis and experiments. (PMID:36650953)
- let-7 miRNAs repress HIC2 to regulate BCL11A transcription and hemoglobin switching. (PMID:38364109)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | hic2 | ENSDARG00000100497 |
| mus_musculus | Hic2 | ENSMUSG00000050240 |
| rattus_norvegicus | Hic2 | ENSRNOG00000051458 |
Paralogs (36): ZBTB32 (ENSG00000011590), SNAI2 (ENSG00000019549), PRDM1 (ENSG00000057657), PRDM6 (ENSG00000061455), ZNF76 (ENSG00000065029), PATZ1 (ENSG00000100105), MAZ (ENSG00000103495), ZBTB16 (ENSG00000109906), ZNF451 (ENSG00000112200), ZBTB45 (ENSG00000119574), ZNF410 (ENSG00000119725), SNAI1 (ENSG00000124216), ZNF384 (ENSG00000126746), ZBTB1 (ENSG00000126804), VEZF1 (ENSG00000136451), PRDM14 (ENSG00000147596), ZNF276 (ENSG00000158805), ZNF362 (ENSG00000160094), ZNF653 (ENSG00000161914), ZNF281 (ENSG00000162702), ZNF148 (ENSG00000163848), ZNF143 (ENSG00000166478), PRDM10 (ENSG00000170325), ZNF296 (ENSG00000170684), ZNF692 (ENSG00000171163), ZNF575 (ENSG00000176472), HIC1 (ENSG00000177374), ZBTB18 (ENSG00000179456), ZBTB42 (ENSG00000179627), ZBTB20 (ENSG00000181722), ZBTB7C (ENSG00000184828), SNAI3 (ENSG00000185669), ZFP91 (ENSG00000186660), MTF1 (ENSG00000188786), SCRT2 (ENSG00000215397), SCRT1 (ENSG00000261678)
Protein
Protein identifiers
Hypermethylated in cancer 2 protein — Q96JB3 (reviewed: Q96JB3)
Alternative names: HIC1-related gene on chromosome 22 protein, Hic-3, Zinc finger and BTB domain-containing protein 30
All UniProt accessions (1): Q96JB3
UniProt curated annotations — full annotation on UniProt →
Function. Transcriptional repressor.
Subunit / interactions. Self-associates. Interacts with HIC1.
Subcellular location. Nucleus.
Tissue specificity. Highest levels in cerebellum.
Similarity. Belongs to the krueppel C2H2-type zinc-finger protein family. Hic subfamily.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q96JB3-1 | 1 | yes |
| Q96JB3-2 | 2 |
RefSeq proteins (1): NP_055909* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000210 | BTB/POZ_dom | Domain |
| IPR011333 | SKP1/BTB/POZ_sf | Homologous_superfamily |
| IPR013087 | Znf_C2H2_type | Domain |
| IPR036236 | Znf_C2H2_sf | Homologous_superfamily |
Pfam: PF00096, PF00651
UniProt features (35 total): strand 7, modified residue 5, zinc finger region 5, helix 5, region of interest 4, compositionally biased region 3, sequence conflict 2, chain 1, domain 1, splice variant 1, turn 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7TXC | X-RAY DIFFRACTION | 3.04 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96JB3-F1 | 50.39 | 0.03 |
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): 166, 169, 197, 348, 412
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 260 (showing top):
GGGACCA_MIR133A_MIR133B, MORF_MSH3, PEREZ_TP63_TARGETS, ATACCTC_MIR202, MORF_BRCA1, NAGASHIMA_NRG1_SIGNALING_UP, AAAYRNCTG_UNKNOWN, YY1_Q6, AGTCTTA_MIR499, YY1_02, KMCATNNWGGA_UNKNOWN, GOBP_CYTOKINE_PRODUCTION, E4F1_Q6, ACATTCC_MIR1_MIR206, AGGAGTG_MIR483
GO Biological Process (4): negative regulation of transcription by RNA polymerase II (GO:0000122), regulation of cytokine production (GO:0001817), regulation of immune system process (GO:0002682), negative regulation of DNA-templated transcription (GO:0045892)
GO Molecular Function (6): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription repressor activity, RNA polymerase II-specific (GO:0001227), DNA binding (GO:0003677), zinc ion binding (GO:0008270), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (3): nucleus (GO:0005634), nucleoplasm (GO:0005654), plasma membrane (GO:0005886)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 2 |
| regulation of transcription by RNA polymerase II | 1 |
| transcription by RNA polymerase II | 1 |
| negative regulation of DNA-templated transcription | 1 |
| cytokine production | 1 |
| regulation of gene expression | 1 |
| regulation of multicellular organismal process | 1 |
| immune system process | 1 |
| regulation of biological process | 1 |
| DNA-templated transcription | 1 |
| regulation of DNA-templated transcription | 1 |
| negative regulation of RNA biosynthetic process | 1 |
| cis-regulatory region sequence-specific DNA binding | 1 |
| negative regulation of transcription by RNA polymerase II | 1 |
| DNA-binding transcription factor activity, RNA polymerase II-specific | 1 |
| DNA-binding transcription repressor activity | 1 |
| nucleic acid binding | 1 |
| transition metal ion binding | 1 |
| binding | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
| membrane | 1 |
| cell periphery | 1 |
Protein interactions and networks
STRING
606 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| HIC2 | CTBP2 | P56545 | 649 |
| HIC2 | CTBP1 | Q13363 | 625 |
| HIC2 | CCDC61 | Q9Y6R9 | 542 |
| HIC2 | FNDC4 | Q9H6D8 | 462 |
| HIC2 | PNPO | Q9NVS9 | 434 |
| HIC2 | PALS1 | Q8N3R9 | 393 |
| HIC2 | VSX2 | P58304 | 383 |
| HIC2 | AKAP12 | Q02952 | 375 |
| HIC2 | MDFIC | Q9P1T7 | 363 |
| HIC2 | FOXD4L4 | Q8WXT5 | 359 |
| HIC2 | DUSP5 | Q16690 | 306 |
| HIC2 | CD200 | P41217 | 280 |
| HIC2 | ASXL3 | Q9C0F0 | 278 |
| HIC2 | EGR1 | P18146 | 272 |
| HIC2 | ZNF862 | O60290 | 269 |
| HIC2 | C2CD4C | Q8TF44 | 269 |
IntAct
68 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CTBP1 | ZEB2 | psi-mi:“MI:0914”(association) | 0.800 |
| CTBP1 | CBX4 | psi-mi:“MI:0914”(association) | 0.700 |
| ZBTB8A | HIC2 | psi-mi:“MI:0915”(physical association) | 0.630 |
| HIC2 | ZBTB8A | psi-mi:“MI:0915”(physical association) | 0.630 |
| HIC2 | EHMT2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CEP70 | HIC2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF169 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| E4F1 | ZBTB24 | psi-mi:“MI:0914”(association) | 0.530 |
| PRICKLE3 | SIAH2 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF460 | ZNF324 | psi-mi:“MI:0914”(association) | 0.530 |
| HIC2 | MFHAS1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| CALU | HIC2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| HIC2 | psi-mi:“MI:0915”(physical association) | 0.370 | |
| HIC2 | HIC1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| HIC2 | HIC2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| C | HIC2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| FOXA3 | DDX39A | psi-mi:“MI:0914”(association) | 0.350 |
| FOXB1 | DDX39A | psi-mi:“MI:0914”(association) | 0.350 |
| FOXJ2 | TCERG1 | psi-mi:“MI:0914”(association) | 0.350 |
| FOXQ1 | DDX39A | psi-mi:“MI:0914”(association) | 0.350 |
| JUN | psi-mi:“MI:0914”(association) | 0.350 | |
| JUN | TPM3 | psi-mi:“MI:0914”(association) | 0.350 |
| NUDCD1 | TUBAL3 | psi-mi:“MI:0914”(association) | 0.350 |
| KLF8 | psi-mi:“MI:0914”(association) | 0.350 | |
| CUL4A | DDX39A | psi-mi:“MI:0914”(association) | 0.350 |
| CTBP2 | ZEB2 | psi-mi:“MI:0914”(association) | 0.350 |
| MIF | BLTP3B | psi-mi:“MI:0914”(association) | 0.350 |
| S100B | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| FBLN5 | ZNF320 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (91): HIC2 (Affinity Capture-MS), HIC2 (Affinity Capture-MS), HIC2 (Affinity Capture-MS), HIC2 (Affinity Capture-MS), HIC2 (Affinity Capture-MS), HIC2 (Affinity Capture-MS), HIC2 (Affinity Capture-MS), HIC2 (Affinity Capture-MS), HIC2 (Affinity Capture-MS), HIC2 (Affinity Capture-MS), HIC2 (Affinity Capture-MS), HIC2 (Affinity Capture-MS), HIC2 (Affinity Capture-MS), HIC2 (Affinity Capture-MS), HIC2 (Affinity Capture-MS)
ESM2 similar proteins: A3KNX5, A6NI15, A7YWL5, B0BN13, D3ZLB7, E9Q9M8, O02761, O35906, O70240, O94983, O97930, P01102, P11939, P13346, P23050, P53539, P70298, P70595, P70660, P97303, Q15742, Q28C89, Q3U1J1, Q5EBA3, Q61122, Q61127, Q62722, Q62912, Q62985, Q6NW59, Q80Y50, Q86UZ6, Q8CD60, Q8HZP6, Q90ZL1, Q91ZM2, Q92886, Q96JB3, Q99NA2, Q9BE45
Diamond homologs: A0A1B8YAB1, A1YPR0, B0WWP2, B1H285, B3M9V8, B3NDN0, B4GRJ2, B4HIK1, B4J045, B4L0G9, B4LIG6, B4MXW3, B4PD06, B4QLQ2, C9JR72, D3Z8N4, E0CZ16, G3X9X1, O15062, O88939, O93567, O95365, P28575, P41182, P41183, Q08CL3, Q08DK3, Q13105, Q16RL8, Q2M0J9, Q3UQV5, Q52KB5, Q5EXX3, Q5R7B8, Q5RDY3, Q5TC79, Q5ZI33, Q5ZKD9, Q5ZM39, Q60821
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 84 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 |
|---|---|---|---|
| mRNA Splicing | 6 | 12.4× | 7e-04 |
| Processing of Capped Intron-Containing Pre-mRNA | 8 | 12.4× | 4e-05 |
| mRNA Polyadenylation | 7 | 11.6× | 2e-04 |
| mRNA Splicing - Major Pathway | 10 | 10.3× | 1e-05 |
| Dengue Virus-Host Interactions | 8 | 6.9× | 1e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| mRNA splicing, via spliceosome | 7 | 8.2× | 4e-03 |
| RNA splicing | 7 | 7.9× | 4e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
113 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 2 |
| Likely pathogenic | 0 |
| Uncertain significance | 99 |
| Likely benign | 6 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (2)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1807715 | GRCh37/hg19 22q11.21(chr22:20728957-21798907)x1 | Pathogenic |
| 548980 | GRCh37/hg19 22q11.21(chr22:18886915-21811991)x1 | Pathogenic |
SpliceAI
1109 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 22:21417558:GAG:G | donor_gain | 1.0000 |
| 22:21417561:GTGAG:G | donor_loss | 1.0000 |
| 22:21417562:T:G | donor_loss | 1.0000 |
| 22:21417561:G:GG | donor_gain | 0.9900 |
| 22:21444916:CCACA:C | acceptor_loss | 0.9900 |
| 22:21444917:CACA:C | acceptor_loss | 0.9900 |
| 22:21444919:CA:C | acceptor_loss | 0.9900 |
| 22:21444920:AGGT:A | acceptor_gain | 0.9900 |
| 22:21444921:G:GT | acceptor_loss | 0.9900 |
| 22:21444921:GGTG:G | acceptor_gain | 0.9900 |
| 22:21417557:CGAG:C | donor_gain | 0.9800 |
| 22:21417558:GAGG:G | donor_gain | 0.9800 |
| 22:21434586:T:TA | donor_gain | 0.9800 |
| 22:21434587:A:AA | donor_gain | 0.9800 |
| 22:21444913:T:TA | acceptor_gain | 0.9800 |
| 22:21444920:A:AG | acceptor_gain | 0.9800 |
| 22:21444921:G:GG | acceptor_gain | 0.9800 |
| 22:21417556:ACGAG:A | donor_gain | 0.9700 |
| 22:21433124:G:GT | donor_gain | 0.9700 |
| 22:21444920:AG:A | acceptor_gain | 0.9700 |
| 22:21444920:AGGTG:A | acceptor_gain | 0.9700 |
| 22:21444921:GG:G | acceptor_gain | 0.9700 |
| 22:21444921:GGT:G | acceptor_gain | 0.9700 |
| 22:21444921:GGTGG:G | acceptor_gain | 0.9700 |
| 22:21417559:AG:A | donor_gain | 0.9600 |
| 22:21417560:GG:G | donor_gain | 0.9600 |
| 22:21418197:G:GT | donor_gain | 0.9600 |
| 22:21433178:A:G | donor_gain | 0.9500 |
| 22:21442785:G:GT | donor_gain | 0.9400 |
| 22:21417561:GTGA:G | donor_gain | 0.9200 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000212880 (22:21420174 T>C), RS1000282375 (22:21444849 C>T), RS1000414449 (22:21420585 G>A), RS1000443024 (22:21444587 G>A,C), RS1000553688 (22:21425492 C>T), RS1000750928 (22:21426583 C>G,T), RS1001080868 (22:21443248 G>T), RS1001188176 (22:21446807 G>A,C), RS1001491009 (22:21443509 T>G), RS1001514882 (22:21450051 C>T), RS1001711176 (22:21451088 G>T), RS1002049132 (22:21446835 C>G), RS1002068018 (22:21450974 G>A), RS1002100528 (22:21450467 G>A), RS1002206269 (22:21437980 C>G,T)
Disease associations
OMIM: gene MIM:607712 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): megacolon (MONDO:0001273)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000507_6 | Systemic lupus erythematosus | 1.000000e-16 |
| GCST000585_2 | Mean corpuscular volume | 1.000000e-08 |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D008531 | Megacolon | C06.405.469.158.701 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
35 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| methacrylaldehyde | affects cotreatment, increases expression, increases abundance | 2 |
| Acetaminophen | increases expression | 2 |
| Acrolein | affects cotreatment, increases expression, increases abundance | 2 |
| Benzo(a)pyrene | increases methylation, affects methylation | 2 |
| Ozone | affects cotreatment, increases expression, increases abundance | 2 |
| aristolochic acid I | increases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| dicrotophos | increases expression | 1 |
| methylmercuric chloride | increases expression | 1 |
| alpha-pinene | affects cotreatment, increases expression, increases abundance | 1 |
| pirinixic acid | affects binding, increases activity, increases expression | 1 |
| sulforaphane | increases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| N,N,N’,N’-tetrakis(2-pyridylmethyl)ethylenediamine | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| licochalcone B | increases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Vorinostat | decreases expression | 1 |
| Air Pollutants | affects cotreatment, increases abundance, increases expression | 1 |
| Arsenic | affects methylation | 1 |
| Atrazine | decreases expression | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Caffeine | increases phosphorylation | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Fluorouracil | affects response to substance | 1 |
| Formaldehyde | decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
Cellosaurus cell lines
3 cell lines: 3 embryonic stem cell
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_A2Q5 | SEES3-1V human HIC2, clone1 | Embryonic stem cell | Male |
| CVCL_A2Q6 | SEES3-1V human HIC2, clone2 | Embryonic stem cell | Male |
| CVCL_A2Q7 | SEES3-1V human HIC2, clone3 | Embryonic stem cell | Male |
Clinical trials (associated diseases)
2 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT04340856 | Not specified | COMPLETED | Retrospective, Uncontrolled Cohort Study on the Therapy of Chronic Megalon |
| NCT07470892 | Not specified | NOT_YET_RECRUITING | Preoperative Fish Oil PN and Prognosis After Constipation Surgery |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): megacolon