ICE2
geneOn this page
Also known as FLJ11896BRCC1
Summary
ICE2 (interactor of little elongation complex ELL subunit 2, HGNC:29885) is a protein-coding gene on chromosome 15q22.2, encoding Little elongation complex subunit 2 (Q659A1). Component of the little elongation complex (LEC), a complex required to regulate small nuclear RNA (snRNA) gene transcription by RNA polymerase II and III. It is a selective cancer dependency (DepMap: 53.6% of cell lines).
This gene encodes a protein component of the little elongation complex (LEC), which plays a role in small nuclear RNA (snRNA) transcription. The LEC regulates snRNA transcription by enhancing both RNA Polymerase II occupancy and transcriptional elongation. The encoded protein and other LEC components have been shown to localize to Cajal bodies, which are sites of ribonucleoprotein (RNP) complex assembly. Pseudogenes of this gene have been identified on chromosomes 3 and 4.
Source: NCBI Gene 79664 — RefSeq curated summary.
At a glance
- GWAS associations: 7
- Clinical variants (ClinVar): 195 total — 1 pathogenic, 1 likely-pathogenic
- Cancer dependency (DepMap): dependent in 53.6% of screened cell lines
- MANE Select transcript:
NM_024611
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29885 |
| Approved symbol | ICE2 |
| Name | interactor of little elongation complex ELL subunit 2 |
| Location | 15q22.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ11896, BRCC1 |
| Ensembl gene | ENSG00000128915 |
| Ensembl biotype | protein_coding |
| OMIM | 610835 |
| Entrez | 79664 |
Gene structure
Transcript identifiers
Ensembl transcripts: 27 — 16 protein_coding, 4 retained_intron, 4 nonsense_mediated_decay, 3 protein_coding_CDS_not_defined
ENST00000261520, ENST00000558121, ENST00000558181, ENST00000558451, ENST00000558512, ENST00000558654, ENST00000560072, ENST00000560406, ENST00000560520, ENST00000560668, ENST00000560895, ENST00000561087, ENST00000561114, ENST00000561124, ENST00000561144, ENST00000561328, ENST00000561446, ENST00000874574, ENST00000874575, ENST00000874576, ENST00000915338, ENST00000915339, ENST00000915340, ENST00000915341, ENST00000915342, ENST00000915343, ENST00000915344
RefSeq mRNA: 3 — MANE Select: NM_024611
NM_001018089, NM_001276385, NM_024611
CCDS: CCDS10176, CCDS61657
Canonical transcript exons
ENST00000261520 — 16 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001228283 | 60479003 | 60479142 |
| ENSE00001228314 | 60468061 | 60468322 |
| ENSE00001423756 | 60419609 | 60423762 |
| ENSE00003472675 | 60436143 | 60436227 |
| ENSE00003484569 | 60453603 | 60453784 |
| ENSE00003513096 | 60455326 | 60455442 |
| ENSE00003529637 | 60466594 | 60466713 |
| ENSE00003538237 | 60431934 | 60431984 |
| ENSE00003543779 | 60448848 | 60449841 |
| ENSE00003622632 | 60442416 | 60442545 |
| ENSE00003627494 | 60476063 | 60476167 |
| ENSE00003630970 | 60455003 | 60455162 |
| ENSE00003649070 | 60477937 | 60478069 |
| ENSE00003657078 | 60447970 | 60448145 |
| ENSE00003658471 | 60428429 | 60428687 |
| ENSE00003663067 | 60456657 | 60456794 |
Expression profiles
Bgee: expression breadth ubiquitous, 275 present calls, max score 94.18.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.4520 / max 309.0581, expressed in 1775 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 150323 | 14.1197 | 1775 |
| 150322 | 0.3323 | 146 |
Top tissues by expression
288 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| colonic epithelium | UBERON:0000397 | 94.18 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 93.64 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 93.30 | gold quality |
| ventricular zone | UBERON:0003053 | 93.26 | gold quality |
| adrenal tissue | UBERON:0018303 | 92.04 | gold quality |
| ganglionic eminence | UBERON:0004023 | 91.96 | gold quality |
| calcaneal tendon | UBERON:0003701 | 91.51 | gold quality |
| tendon | UBERON:0000043 | 91.11 | gold quality |
| embryo | UBERON:0000922 | 90.99 | gold quality |
| left ovary | UBERON:0002119 | 90.08 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 89.97 | gold quality |
| secondary oocyte | CL:0000655 | 89.94 | gold quality |
| oocyte | CL:0000023 | 89.65 | gold quality |
| islet of Langerhans | UBERON:0000006 | 89.60 | gold quality |
| right ovary | UBERON:0002118 | 89.59 | gold quality |
| right uterine tube | UBERON:0001302 | 89.22 | gold quality |
| ovary | UBERON:0000992 | 88.91 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 88.71 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 88.55 | gold quality |
| nerve | UBERON:0001021 | 88.52 | gold quality |
| tibial nerve | UBERON:0001323 | 88.52 | gold quality |
| pituitary gland | UBERON:0000007 | 88.51 | gold quality |
| monocyte | CL:0000576 | 88.39 | gold quality |
| adenohypophysis | UBERON:0002196 | 88.38 | gold quality |
| body of uterus | UBERON:0009853 | 88.35 | gold quality |
| leukocyte | CL:0000738 | 88.30 | gold quality |
| mononuclear cell | CL:0000842 | 88.29 | gold quality |
| endocervix | UBERON:0000458 | 88.23 | gold quality |
| bone marrow cell | CL:0002092 | 88.15 | gold quality |
| body of pancreas | UBERON:0001150 | 87.98 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-9801 | yes | 6.80 |
| E-MTAB-7303 | no | 126.75 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
134 targeting ICE2, 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-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-5193 | 100.00 | 67.26 | 1744 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-518D-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-518E-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-518F-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-519A-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-519B-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-519C-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-520C-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-522-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-523-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-526A-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-223-3P | 99.99 | 70.14 | 1140 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-8068 | 99.98 | 73.85 | 2376 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-4267 | 99.96 | 66.53 | 2368 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 53.6% of screened cell lines.
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ice2 | ENSDARG00000086670 |
| mus_musculus | Ice2 | ENSMUSG00000032235 |
| rattus_norvegicus | Ice2 | ENSRNOG00000010160 |
Protein
Protein identifiers
Little elongation complex subunit 2 — Q659A1 (reviewed: Q659A1)
Alternative names: Interactor of little elongator complex ELL subunit 2, NMDA receptor-regulated protein 2
All UniProt accessions (8): Q659A1, H0YK14, H0YK96, H0YK97, H0YL35, H0YMX6, H0YN09, H0YNU9
UniProt curated annotations — full annotation on UniProt →
Function. Component of the little elongation complex (LEC), a complex required to regulate small nuclear RNA (snRNA) gene transcription by RNA polymerase II and III.
Subunit / interactions. Component of the little elongation complex (LEC), at least composed of ELL (ELL, ELL2 or ELL3), ZC3H8, ICE1 and ICE2. Interacts with ICE1 (via C-terminus domain). Interacts with ELL.
Subcellular location. Nucleus.
Tissue specificity. Expressed at low levels in lung and testis.
Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Similarity. Belongs to the ICE2 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q659A1-1 | 1 | yes |
| Q659A1-2 | 2 |
RefSeq proteins (3): NP_001018099, NP_001263314, NP_078887* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR019535 | ICE2_C | Domain |
Pfam: PF10505
UniProt features (26 total): compositionally biased region 7, sequence conflict 7, region of interest 5, modified residue 4, splice variant 2, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q659A1-F1 | 66.24 | 0.30 |
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 (4): 17, 326, 571, 573
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-6807505 | RNA polymerase II transcribes snRNA genes |
MSigDB gene sets: 135 (showing top):
GOBP_TRANSCRIPTION_BY_RNA_POLYMERASE_III, GTGCCTT_MIR506, DODD_NASOPHARYNGEAL_CARCINOMA_UP, CREB_Q3, YRTCANNRCGC_UNKNOWN, IVANOVA_HEMATOPOIESIS_EARLY_PROGENITOR, NUYTTEN_EZH2_TARGETS_DN, GOCC_CAJAL_BODY, GOCC_NUCLEAR_BODY, GOCC_RIBONUCLEOPROTEIN_GRANULE, MARSON_BOUND_BY_E2F4_UNSTIMULATED, GOCC_EUCHROMATIN, GOCC_TRANSCRIPTION_ELONGATION_FACTOR_COMPLEX, BENPORATH_ES_1, HAMAI_APOPTOSIS_VIA_TRAIL_UP
GO Biological Process (3): snRNA transcription by RNA polymerase II (GO:0042795), snRNA transcription by RNA polymerase III (GO:0042796), positive regulation of transcription by RNA polymerase III (GO:0045945)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (8): euchromatin (GO:0000791), nucleoplasm (GO:0005654), cytosol (GO:0005829), transcription elongation factor complex (GO:0008023), Cajal body (GO:0015030), nuclear body (GO:0016604), histone locus body (GO:0035363), nucleus (GO:0005634)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| RNA Polymerase II Transcription | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| snRNA transcription | 2 |
| transcription by RNA polymerase III | 2 |
| cellular anatomical structure | 2 |
| nucleoplasm | 2 |
| nuclear ribonucleoprotein granule | 2 |
| transcription by RNA polymerase II | 1 |
| regulation of transcription by RNA polymerase III | 1 |
| positive regulation of DNA-templated transcription | 1 |
| binding | 1 |
| chromatin | 1 |
| nuclear lumen | 1 |
| cytoplasm | 1 |
| nuclear protein-containing complex | 1 |
| intracellular membraneless organelle | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
1184 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ICE2 | ICE1 | Q9Y2F5 | 985 |
| ICE2 | ZNF346 | Q9UL40 | 947 |
| ICE2 | NAA15 | Q9BXJ9 | 940 |
| ICE2 | ZC3H8 | Q8N5P1 | 834 |
| ICE2 | NAA10 | P41227 | 763 |
| ICE2 | ELL | P55199 | 750 |
| ICE2 | GRIN1 | P35437 | 648 |
| ICE2 | USPL1 | Q5W0Q7 | 591 |
| ICE2 | MNAT1 | P51948 | 581 |
| ICE2 | MED26 | O95402 | 514 |
| ICE2 | EAF1 | Q96JC9 | 504 |
| ICE2 | NAT1 | P18440 | 474 |
| ICE2 | EAF2 | Q96CJ1 | 457 |
| ICE2 | ELL2 | O00472 | 434 |
| ICE2 | ELL3 | Q9HB65 | 425 |
IntAct
60 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| EAF1 | ELL2 | psi-mi:“MI:0914”(association) | 0.840 |
| ELL3 | ICE2 | psi-mi:“MI:0914”(association) | 0.730 |
| ELL3 | CCNT1 | psi-mi:“MI:0914”(association) | 0.640 |
| SNRPA1 | HTATSF1 | psi-mi:“MI:0914”(association) | 0.640 |
| SNRPA1 | U2SURP | psi-mi:“MI:0914”(association) | 0.640 |
| SNRPB | SART1 | psi-mi:“MI:0914”(association) | 0.640 |
| ICE1 | ELL | psi-mi:“MI:0915”(physical association) | 0.620 |
| ICE2 | ELL | psi-mi:“MI:0915”(physical association) | 0.620 |
| ELL | ICE2 | psi-mi:“MI:0914”(association) | 0.620 |
| ICE2 | ELL | psi-mi:“MI:0914”(association) | 0.620 |
| ICE1 | ELL | psi-mi:“MI:0914”(association) | 0.620 |
| ICE2 | HP | psi-mi:“MI:0914”(association) | 0.530 |
| DYRK1B | BMAL1 | psi-mi:“MI:0914”(association) | 0.530 |
| Ncbp2 | ZC3H18 | psi-mi:“MI:0914”(association) | 0.350 |
| OFD1 | CCDC14 | psi-mi:“MI:0914”(association) | 0.350 |
| Ankrd26 | TBC1D31 | psi-mi:“MI:0914”(association) | 0.350 |
| Scai | BCR | psi-mi:“MI:0914”(association) | 0.350 |
| Osgep | RPSA | psi-mi:“MI:0914”(association) | 0.350 |
| FGFR1OP2 | STK24 | psi-mi:“MI:0914”(association) | 0.350 |
| SIKE1 | STK24 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (112): ICE2 (Affinity Capture-MS), ICE2 (Affinity Capture-MS), ICE2 (Affinity Capture-MS), ACTA2 (Affinity Capture-MS), IGKC (Affinity Capture-MS), IGLC7 (Affinity Capture-MS), IGHG2 (Affinity Capture-MS), IGHG1 (Affinity Capture-MS), CCT6B (Affinity Capture-MS), PIGR (Affinity Capture-MS), HP (Affinity Capture-MS), LTF (Affinity Capture-MS), MUC5B (Affinity Capture-MS), SERPINA1 (Affinity Capture-MS), BPIFA1 (Affinity Capture-MS)
ESM2 similar proteins: A0A0M3U1B0, A0A1L8EYB2, A0JMF7, A4D1B5, A4FUB0, D3IUT5, D3Z6S9, F1QB81, O60281, O70167, P53995, Q0VCQ7, Q13129, Q14699, Q2T9I9, Q3TCV3, Q3UJC8, Q402B2, Q4R9E9, Q5RA75, Q5RB52, Q5XI46, Q5XI56, Q5ZKI7, Q659A1, Q6AYM1, Q6DRL4, Q6INI0, Q6PUR7, Q7Z2Z1, Q8BQ33, Q8CCC3, Q8CDN1, Q8IXR9, Q8K1K4, Q8NB91, Q8ND61, Q90WN7, Q920I9, Q92674
Diamond homologs: Q0VCQ7, Q3UZ18, Q659A1
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| ICE2 | “form complex” | ELL/ICE2 | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 69 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 |
|---|---|---|---|
| RNA polymerase II transcribes snRNA genes | 6 | 21.5× | 7e-05 |
| mRNA Splicing | 6 | 15.3× | 2e-04 |
| CHD1 and CHD2 subfamily | 5 | 12.7× | 2e-03 |
| mRNA Polyadenylation | 6 | 12.3× | 4e-04 |
| Processing of Capped Intron-Containing Pre-mRNA | 6 | 11.5× | 5e-04 |
| mRNA Splicing - Major Pathway | 8 | 10.2× | 1e-04 |
| Metabolism of RNA | 7 | 6.8× | 2e-03 |
| Dengue Virus-Host Interactions | 6 | 6.4× | 7e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| U2-type prespliceosome assembly | 5 | 55.7× | 4e-06 |
| positive regulation of transcription elongation by RNA polymerase II | 6 | 32.2× | 4e-06 |
| mRNA splicing, via spliceosome | 7 | 11.4× | 2e-04 |
| RNA splicing | 6 | 9.4× | 2e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
195 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 1 |
| Uncertain significance | 147 |
| Likely benign | 17 |
| Benign | 5 |
Top pathogenic / likely-pathogenic (2)
| Variant ID | HGVS | Classification |
|---|---|---|
| 4820238 | Single allele | Pathogenic |
| 2685518 | GRCh37/hg19 15q22.2(chr15:60688155-60888244)x1 | Likely pathogenic |
SpliceAI
3427 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 15:60436141:A:AC | donor_gain | 1.0000 |
| 15:60436142:C:CC | donor_gain | 1.0000 |
| 15:60436224:TGCC:T | acceptor_gain | 1.0000 |
| 15:60436226:CC:C | acceptor_gain | 1.0000 |
| 15:60436227:CC:C | acceptor_gain | 1.0000 |
| 15:60436227:CCTA:C | acceptor_loss | 1.0000 |
| 15:60436228:C:CC | acceptor_gain | 1.0000 |
| 15:60436228:CTA:C | acceptor_loss | 1.0000 |
| 15:60436229:T:A | acceptor_loss | 1.0000 |
| 15:60449843:T:C | acceptor_gain | 1.0000 |
| 15:60449845:A:AC | acceptor_gain | 1.0000 |
| 15:60449845:A:C | acceptor_gain | 1.0000 |
| 15:60453601:A:AC | donor_gain | 1.0000 |
| 15:60453601:ACGT:A | donor_gain | 1.0000 |
| 15:60453602:C:CC | donor_gain | 1.0000 |
| 15:60453602:CGT:C | donor_gain | 1.0000 |
| 15:60453602:CGTC:C | donor_gain | 1.0000 |
| 15:60453604:T:TA | donor_gain | 1.0000 |
| 15:60453605:C:A | donor_gain | 1.0000 |
| 15:60453786:T:C | acceptor_gain | 1.0000 |
| 15:60455320:ACTT:A | donor_loss | 1.0000 |
| 15:60455322:TTACA:T | donor_loss | 1.0000 |
| 15:60455323:TA:T | donor_loss | 1.0000 |
| 15:60455324:A:AC | donor_gain | 1.0000 |
| 15:60455324:A:C | donor_loss | 1.0000 |
| 15:60455325:C:CT | donor_gain | 1.0000 |
| 15:60455325:CA:C | donor_gain | 1.0000 |
| 15:60455325:CAT:C | donor_gain | 1.0000 |
| 15:60455325:CATA:C | donor_gain | 1.0000 |
| 15:60455325:CATAA:C | donor_gain | 1.0000 |
AlphaMissense
6448 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 15:60449021:A:G | L649S | 0.999 |
| 15:60449024:A:C | I648S | 0.999 |
| 15:60449024:A:G | I648T | 0.999 |
| 15:60449033:A:T | V645D | 0.999 |
| 15:60449003:A:G | L655P | 0.998 |
| 15:60449015:A:G | M651T | 0.998 |
| 15:60428533:A:G | W906R | 0.997 |
| 15:60428533:A:T | W906R | 0.997 |
| 15:60449024:A:T | I648N | 0.997 |
| 15:60428465:A:C | F928L | 0.996 |
| 15:60428465:A:T | F928L | 0.996 |
| 15:60428467:A:G | F928L | 0.996 |
| 15:60447970:T:A | R765S | 0.996 |
| 15:60447970:T:G | R765S | 0.996 |
| 15:60449011:C:A | Q652H | 0.996 |
| 15:60449011:C:G | Q652H | 0.996 |
| 15:60449039:T:C | D643G | 0.996 |
| 15:60442535:A:T | V769D | 0.995 |
| 15:60455042:A:G | W302R | 0.995 |
| 15:60455042:A:T | W302R | 0.995 |
| 15:60466675:G:C | F149L | 0.995 |
| 15:60466675:G:T | F149L | 0.995 |
| 15:60466677:A:G | F149L | 0.995 |
| 15:60442416:C:G | G809R | 0.994 |
| 15:60442416:C:T | G809R | 0.994 |
| 15:60447973:T:A | R764S | 0.994 |
| 15:60447973:T:G | R764S | 0.994 |
| 15:60448071:A:C | Y732D | 0.994 |
| 15:60455131:A:G | L272P | 0.994 |
| 15:60436227:C:T | G809E | 0.993 |
dbSNP variants (sampled 300 via entrez): RS1000023766 (15:60451528 T>C), RS1000054552 (15:60465202 C>A,T), RS1000086576 (15:60479325 G>A,C), RS1000093034 (15:60441197 A>G), RS1000167256 (15:60471813 A>G), RS1000227119 (15:60430135 A>G), RS1000258485 (15:60433979 C>G), RS1000283296 (15:60433656 A>G), RS1000288579 (15:60438702 G>A), RS1000340326 (15:60438287 A>G), RS1000481988 (15:60444549 T>A), RS1000494330 (15:60457056 G>A,C), RS1000512542 (15:60472813 C>A), RS1000543619 (15:60472620 T>C), RS1000586430 (15:60433013 T>A,C)
Disease associations
OMIM: gene MIM:610835 | disease phenotypes: MIM:618060
GenCC curated gene-disease
Mondo (1): intellectual developmental disorder with or without epilepsy or cerebellar ataxia (MONDO:0060745)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
7 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST005212_29 | Asthma | 1.000000e-09 |
| GCST006862_16 | Asthma | 8.000000e-11 |
| GCST009391_1441 | Metabolite levels | 3.000000e-06 |
| GCST009391_1845 | Metabolite levels | 3.000000e-06 |
| GCST009798_17 | Asthma | 2.000000e-19 |
| GCST90002381_617 | Eosinophil count | 4.000000e-09 |
| GCST90002382_236 | Eosinophil percentage of white cells | 7.000000e-12 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0010409 | triacylglycerol 50:2 measurement |
| EFO:0010413 | triacylglycerol 52:1 measurement |
| EFO:0004842 | eosinophil count |
| EFO:0007991 | eosinophil percentage of leukocytes |
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 |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression, affects expression | 6 |
| Arsenic | affects methylation, increases methylation, affects cotreatment, decreases expression, increases abundance | 3 |
| sodium arsenite | decreases expression, affects cotreatment, increases abundance | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| p-Chloromercuribenzoic Acid | affects cotreatment, decreases expression | 2 |
| FR900359 | increases phosphorylation | 1 |
| dicrotophos | decreases expression | 1 |
| geldanamycin | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| pirinixic acid | affects binding, increases activity, increases expression | 1 |
| testosterone undecanoate | affects cotreatment, decreases expression | 1 |
| beta-lapachone | increases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| manganese chloride | affects cotreatment, decreases expression, increases abundance | 1 |
| coumarin | decreases phosphorylation | 1 |
| lei gong teng | increases expression | 1 |
| epigallocatechin gallate | increases expression | 1 |
| pentanal | decreases 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 |
| belinostat | increases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| 2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine | increases expression, increases response to substance | 1 |
| jinfukang | decreases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Benzo(a)pyrene | decreases methylation | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Caffeine | increases phosphorylation | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): intellectual developmental disorder with or without epilepsy or cerebellar ataxia