ESS2
gene geneOn this page
Also known as DGSIEs2elES2DGS-HESS-2bis1
Summary
ESS2 (ess-2 spliceosome associated protein, HGNC:16817) is a protein-coding gene on chromosome 22q11.21, encoding Splicing factor ESS-2 homolog (Q96DF8). May be involved in pre-mRNA splicing. It is a common-essential gene (DepMap: required in 97.0% of cancer cell lines).
This gene is located within the minimal DGS critical region (MDGCR) thought to contain the gene(s) responsible for a group of developmental disorders. These disorders include DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome, and some familial or sporadic conotruncal cardiac defects which have been associated with microdeletion of 22q11.2. The encoded protein may be a component of C complex spliceosomes, and the orthologous protein in the mouse localizes to the nucleus. Alternatively spliced transcript variants have been found for this gene.
Source: NCBI Gene 8220 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 205 total — 1 pathogenic
- Phenotypes (HPO): 39
- Cancer dependency (DepMap): dependent in 97.0% of screened cell lines (common-essential)
- MANE Select transcript:
NM_022719
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16817 |
| Approved symbol | ESS2 |
| Name | ess-2 spliceosome associated protein |
| Location | 22q11.21 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DGSI, Es2el, ES2, DGS-H, ESS-2, bis1 |
| Ensembl gene | ENSG00000100056 |
| Ensembl biotype | protein_coding |
| OMIM | 601755 |
| Entrez | 8220 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 6 protein_coding, 2 retained_intron, 1 nonsense_mediated_decay
ENST00000252137, ENST00000434568, ENST00000469466, ENST00000472073, ENST00000909110, ENST00000909111, ENST00000909112, ENST00000951415, ENST00000951416
RefSeq mRNA: 1 — MANE Select: NM_022719
NM_022719
CCDS: CCDS13756
Canonical transcript exons
ENST00000252137 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000879093 | 19130279 | 19134475 |
| ENSE00003470560 | 19135060 | 19135175 |
| ENSE00003509646 | 19139855 | 19140024 |
| ENSE00003524304 | 19138215 | 19138317 |
| ENSE00003536450 | 19137323 | 19137432 |
| ENSE00003568380 | 19142726 | 19142894 |
| ENSE00003612419 | 19139612 | 19139729 |
| ENSE00003633046 | 19142538 | 19142633 |
| ENSE00003635250 | 19139159 | 19139292 |
| ENSE00003848110 | 19144506 | 19144651 |
Expression profiles
Bgee: expression breadth ubiquitous, 258 present calls, max score 88.96.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 16.1665 / max 124.5055, expressed in 1814 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 193131 | 15.9098 | 1814 |
| 193132 | 0.2566 | 125 |
Top tissues by expression
286 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sperm | CL:0000019 | 88.96 | gold quality |
| right testis | UBERON:0004534 | 88.56 | gold quality |
| left testis | UBERON:0004533 | 88.47 | gold quality |
| granulocyte | CL:0000094 | 87.20 | gold quality |
| testis | UBERON:0000473 | 86.76 | gold quality |
| male germ cell | CL:0000015 | 86.65 | gold quality |
| blood | UBERON:0000178 | 85.28 | gold quality |
| skin of leg | UBERON:0001511 | 84.47 | gold quality |
| skin of abdomen | UBERON:0001416 | 83.91 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 83.85 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 83.84 | gold quality |
| lower esophagus | UBERON:0013473 | 83.83 | gold quality |
| popliteal artery | UBERON:0002250 | 83.66 | gold quality |
| tibial artery | UBERON:0007610 | 83.66 | gold quality |
| sural nerve | UBERON:0015488 | 83.57 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 83.53 | gold quality |
| cortical plate | UBERON:0005343 | 83.52 | gold quality |
| adult organism | UBERON:0007023 | 83.45 | gold quality |
| oocyte | CL:0000023 | 83.43 | gold quality |
| aorta | UBERON:0000947 | 83.15 | gold quality |
| prefrontal cortex | UBERON:0000451 | 82.92 | gold quality |
| mucosa of stomach | UBERON:0001199 | 82.87 | gold quality |
| zone of skin | UBERON:0000014 | 82.76 | gold quality |
| left uterine tube | UBERON:0001303 | 82.74 | gold quality |
| thoracic aorta | UBERON:0001515 | 82.74 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 82.70 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 82.68 | gold quality |
| apex of heart | UBERON:0002098 | 82.67 | gold quality |
| body of uterus | UBERON:0009853 | 82.66 | gold quality |
| ascending aorta | UBERON:0001496 | 82.59 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 2.57 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
117 targeting ESS2, 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-4481 | 100.00 | 66.42 | 1669 |
| HSA-MIR-4455 | 100.00 | 65.48 | 1587 |
| HSA-MIR-3120-5P | 100.00 | 65.56 | 965 |
| HSA-MIR-4745-5P | 99.98 | 65.95 | 1028 |
| HSA-MIR-103A-3P | 99.98 | 69.14 | 1595 |
| HSA-MIR-107 | 99.98 | 69.14 | 1595 |
| HSA-MIR-302E | 99.96 | 70.74 | 2669 |
| HSA-MIR-545-3P | 99.95 | 70.74 | 2783 |
| HSA-MIR-22-3P | 99.93 | 68.13 | 917 |
| HSA-MIR-515-5P | 99.92 | 69.82 | 2343 |
| HSA-MIR-519E-5P | 99.92 | 69.62 | 2358 |
| HSA-MIR-497-5P | 99.92 | 71.83 | 2674 |
| HSA-MIR-15A-5P | 99.90 | 72.80 | 2787 |
| HSA-MIR-15B-5P | 99.90 | 72.78 | 2798 |
| HSA-MIR-16-5P | 99.90 | 72.80 | 2780 |
| HSA-MIR-195-5P | 99.90 | 72.81 | 2805 |
| HSA-MIR-424-5P | 99.89 | 71.90 | 2641 |
| HSA-MIR-6838-5P | 99.89 | 71.94 | 2690 |
| HSA-MIR-221-5P | 99.86 | 65.45 | 1052 |
| HSA-MIR-8073 | 99.86 | 65.21 | 1118 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-373-3P | 99.84 | 70.68 | 1668 |
| HSA-MIR-6875-3P | 99.82 | 70.26 | 2983 |
| HSA-MIR-4639-5P | 99.81 | 67.37 | 1028 |
| HSA-MIR-92A-2-5P | 99.75 | 67.01 | 2164 |
| HSA-MIR-187-5P | 99.74 | 70.26 | 1404 |
| HSA-MIR-4446-5P | 99.72 | 69.19 | 2544 |
| HSA-MIR-4530 | 99.69 | 66.47 | 1509 |
| HSA-MIR-5004-5P | 99.68 | 66.63 | 1294 |
| HSA-MIR-452-5P | 99.65 | 69.63 | 1762 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 97.0% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 2)
- Experiments using Ess2 deletion mutants showed that a C-terminus deletion mutant of Ess2 (1-399 a. a.) lost its ability to associate with snRNAs, whereas the N-terminus domain of Ess2 (1-200 a. a.) associated with retinoic acid receptor-related orphan receptor gamma/gamma-t, but not with snRNAs. (PMID:29454968)
- Transcriptional coregulator Ess2 controls survival of post-thymic CD4(+) T cells through the Myc and IL-7 signaling pathways. (PMID:35933014)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ess2 | ENSDARG00000060922 |
| mus_musculus | Ess2 | ENSMUSG00000003527 |
| rattus_norvegicus | Ess2 | ENSRNOG00000000283 |
| drosophila_melanogaster | Es2 | FBGN0023506 |
| caenorhabditis_elegans | WBGENE00018371 |
Protein
Protein identifiers
Splicing factor ESS-2 homolog — Q96DF8 (reviewed: Q96DF8)
Alternative names: DiGeorge syndrome critical region 13, DiGeorge syndrome critical region 14, DiGeorge syndrome protein H, Protein ES2
All UniProt accessions (2): Q96DF8, F8WEF8
UniProt curated annotations — full annotation on UniProt →
Function. May be involved in pre-mRNA splicing.
Subunit / interactions. Identified in the spliceosome C complex. Interacts with FRA10AC1.
Subcellular location. Nucleus.
Tissue specificity. Highly expressed in heart, brain and skeletal muscle. Detected at low levels in placenta.
Similarity. Belongs to the ESS2 family.
RefSeq proteins (1): NP_073210* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR019148 | Nuclear_protein_DGCR14_ESS-2 | Family |
Pfam: PF09751
UniProt features (18 total): modified residue 6, compositionally biased region 4, region of interest 3, sequence variant 3, chain 1, cross-link 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8C6J | ELECTRON MICROSCOPY | 2.8 |
| 9FMD | ELECTRON MICROSCOPY | 3.3 |
| 8RO2 | ELECTRON MICROSCOPY | 3.5 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96DF8-F1 | 68.41 | 0.13 |
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 (7): 292, 386, 391, 395, 142, 1, 3
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 176 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_UP, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GAUSSMANN_MLL_AF4_FUSION_TARGETS_G_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, DACOSTA_UV_RESPONSE_VIA_ERCC3_UP, MODULE_70, BLALOCK_ALZHEIMERS_DISEASE_UP, GOBP_RNA_SPLICING, LIAO_METASTASIS, GOCC_CATALYTIC_STEP_2_SPLICEOSOME, GOCC_SPLICEOSOMAL_COMPLEX, GOCC_RIBONUCLEOPROTEIN_COMPLEX, KIM_WT1_TARGETS_DN, STARK_HYPPOCAMPUS_22Q11_DELETION_DN, MARTENS_TRETINOIN_RESPONSE_UP
GO Biological Process (4): mRNA splicing, via spliceosome (GO:0000398), nervous system development (GO:0007399), mRNA processing (GO:0006397), RNA splicing (GO:0008380)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (3): nucleus (GO:0005634), catalytic step 2 spliceosome (GO:0071013), spliceosomal complex (GO:0005681)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| RNA processing | 2 |
| RNA splicing, via transesterification reactions with bulged adenosine as nucleophile | 1 |
| mRNA processing | 1 |
| system development | 1 |
| mRNA metabolic process | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| Prp19 complex | 1 |
| spliceosomal complex | 1 |
| U5 snRNP | 1 |
| catalytic complex | 1 |
| nuclear protein-containing complex | 1 |
| ribonucleoprotein complex | 1 |
Protein interactions and networks
STRING
970 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ESS2 | GATD3 | P0DPI2 | 925 |
| ESS2 | DGCR2 | P98153 | 856 |
| ESS2 | SOX2 | P48431 | 838 |
| ESS2 | SLC25A1 | P53007 | 809 |
| ESS2 | ESR1 | P03372 | 801 |
| ESS2 | HIRA | P54198 | 726 |
| ESS2 | SUZ12 | Q15022 | 725 |
| ESS2 | UFD1 | Q92890 | 710 |
| ESS2 | CLTCL1 | P53675 | 704 |
| ESS2 | RPS7 | P23821 | 609 |
| ESS2 | EPCAM | P16422 | 559 |
| ESS2 | HNRNPA1 | P09651 | 548 |
| ESS2 | CLTC | Q00610 | 548 |
| ESS2 | HNRNPH2 | P55795 | 511 |
| ESS2 | HNRNPH1 | P31943 | 495 |
IntAct
160 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PPIE | AQR | psi-mi:“MI:0914”(association) | 0.810 |
| ISY1 | AQR | psi-mi:“MI:0914”(association) | 0.740 |
| FRA10AC1 | ESS2 | psi-mi:“MI:0915”(physical association) | 0.730 |
| SNRPG | GEMIN2 | psi-mi:“MI:0914”(association) | 0.710 |
| SNW1 | AQR | psi-mi:“MI:0914”(association) | 0.650 |
| SNRPA1 | HTATSF1 | psi-mi:“MI:0914”(association) | 0.640 |
| SNRPA1 | U2SURP | psi-mi:“MI:0914”(association) | 0.640 |
| ESS2 | ACADS | psi-mi:“MI:0914”(association) | 0.640 |
| ESS2 | PRPF19 | psi-mi:“MI:0915”(physical association) | 0.620 |
| ARMC7 | ESS2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CCDC57 | ESS2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DGCR6 | ESS2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| OIP5 | ESS2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ESS2 | SMARCD1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ESS2 | NXF1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| EXOC8 | ESS2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ESS2 | ARMC7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| QARS1 | ESS2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ESS2 | GFAP | psi-mi:“MI:0915”(physical association) | 0.560 |
| ESS2 | JPH3 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (199): DGCR14 (Affinity Capture-MS), DGCR14 (Affinity Capture-MS), DGCR14 (Affinity Capture-MS), DGCR14 (Affinity Capture-MS), DGCR14 (Affinity Capture-MS), DGCR14 (Affinity Capture-MS), DGCR14 (Affinity Capture-MS), DGCR14 (Synthetic Lethality), DGCR14 (Proximity Label-MS), DGCR14 (Proximity Label-MS), DGCR14 (Proximity Label-MS), DGCR14 (Affinity Capture-MS), DGCR14 (Affinity Capture-MS), DGCR14 (Affinity Capture-MS), DGCR14 (Affinity Capture-MS)
ESM2 similar proteins: A1A4P4, A1CH36, A2ALW5, A5AAL8, B0BN56, O42911, O70279, P0C2B7, P58468, P83565, Q0CLE8, Q1ECT8, Q290P4, Q2GVC2, Q3SZ86, Q4G0I0, Q4V7Q1, Q5B4U6, Q5BJW9, Q5RFR4, Q5XJW2, Q61733, Q6RUT7, Q753F1, Q7SDU5, Q7SHR9, Q80ZS3, Q86TS9, Q8BGX2, Q8BK72, Q8CHP5, Q8SPE7, Q8TAE8, Q8VD26, Q8WUQ7, Q96AN5, Q96DF8, Q9BRP8, Q9BSF4, Q9BYN8
Diamond homologs: O44424, O70279, P34420, Q96DF8, O59793
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 164 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 | 23 | 23.2× | 2e-23 |
| Processing of Capped Intron-Containing Pre-mRNA | 25 | 18.8× | 3e-23 |
| mRNA Splicing - Major Pathway | 36 | 18.1× | 2e-33 |
| Transport of Mature Transcript to Cytoplasm | 5 | 17.5× | 5e-04 |
| mRNA 3’-end processing | 9 | 16.3× | 3e-07 |
| RNA Polymerase II Transcription Termination | 8 | 16.1× | 2e-06 |
| mRNA Polyadenylation | 19 | 15.3× | 1e-15 |
| mRNA Splicing - Minor Pathway | 7 | 14.4× | 3e-05 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| U2-type prespliceosome assembly | 8 | 34.7× | 1e-08 |
| RNA splicing, via transesterification reactions | 6 | 26.0× | 1e-05 |
| spliceosomal complex assembly | 6 | 25.1× | 2e-05 |
| mRNA splicing, via spliceosome | 32 | 20.4× | 3e-30 |
| spliceosomal snRNP assembly | 5 | 20.2× | 4e-04 |
| mRNA transport | 7 | 12.8× | 1e-04 |
| RNA splicing | 20 | 12.2× | 8e-14 |
| regulation of alternative mRNA splicing, via spliceosome | 7 | 11.9× | 2e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
205 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 162 |
| Likely benign | 13 |
| Benign | 5 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 625622 | GRCh37/hg19 22q11.21(chr22:18923898-21431174) | Pathogenic |
SpliceAI
1814 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 22:19135054:CCTCA:C | donor_loss | 1.0000 |
| 22:19135055:CTCA:C | donor_loss | 1.0000 |
| 22:19135056:TCA:T | donor_loss | 1.0000 |
| 22:19135057:CACCT:C | donor_loss | 1.0000 |
| 22:19135058:ACCTG:A | donor_loss | 1.0000 |
| 22:19135093:T:TA | donor_gain | 1.0000 |
| 22:19135175:TCTA:T | acceptor_loss | 1.0000 |
| 22:19135176:C:CC | acceptor_gain | 1.0000 |
| 22:19137318:CCCA:C | donor_loss | 1.0000 |
| 22:19137319:CCAC:C | donor_loss | 1.0000 |
| 22:19137320:CACCT:C | donor_loss | 1.0000 |
| 22:19137321:A:AG | donor_loss | 1.0000 |
| 22:19137428:CACAC:C | acceptor_gain | 1.0000 |
| 22:19137429:ACAC:A | acceptor_gain | 1.0000 |
| 22:19137429:ACACC:A | acceptor_loss | 1.0000 |
| 22:19137430:CAC:C | acceptor_gain | 1.0000 |
| 22:19137430:CACC:C | acceptor_gain | 1.0000 |
| 22:19137431:AC:A | acceptor_gain | 1.0000 |
| 22:19137431:ACCT:A | acceptor_loss | 1.0000 |
| 22:19137432:CC:C | acceptor_gain | 1.0000 |
| 22:19137432:CCT:C | acceptor_loss | 1.0000 |
| 22:19137433:C:CC | acceptor_gain | 1.0000 |
| 22:19137433:C:CG | acceptor_loss | 1.0000 |
| 22:19137434:T:C | acceptor_loss | 1.0000 |
| 22:19137440:C:CT | acceptor_gain | 1.0000 |
| 22:19137441:A:T | acceptor_gain | 1.0000 |
| 22:19139154:CTCA:C | donor_loss | 1.0000 |
| 22:19139155:TCA:T | donor_loss | 1.0000 |
| 22:19139156:CA:C | donor_loss | 1.0000 |
| 22:19139290:CAC:C | acceptor_gain | 1.0000 |
AlphaMissense
3086 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 22:19135155:C:A | R352S | 0.999 |
| 22:19135155:C:G | R352S | 0.999 |
| 22:19137326:A:C | F344L | 0.999 |
| 22:19137326:A:T | F344L | 0.999 |
| 22:19137328:A:G | F344L | 0.999 |
| 22:19137406:A:G | W318R | 0.999 |
| 22:19137406:A:T | W318R | 0.999 |
| 22:19142819:C:G | A71P | 0.999 |
| 22:19142862:A:C | F56L | 0.999 |
| 22:19142862:A:T | F56L | 0.999 |
| 22:19142864:A:G | F56L | 0.999 |
| 22:19142865:G:C | F55L | 0.999 |
| 22:19142865:G:T | F55L | 0.999 |
| 22:19142867:A:G | F55L | 0.999 |
| 22:19142878:A:T | I51N | 0.999 |
| 22:19135156:C:A | R352M | 0.998 |
| 22:19135156:C:G | R352T | 0.998 |
| 22:19139954:A:C | S157R | 0.998 |
| 22:19139954:A:T | S157R | 0.998 |
| 22:19139956:T:G | S157R | 0.998 |
| 22:19142788:C:G | R81P | 0.998 |
| 22:19142845:A:G | L62P | 0.998 |
| 22:19142878:A:C | I51S | 0.998 |
| 22:19135133:C:G | A360P | 0.997 |
| 22:19135135:A:G | M359T | 0.997 |
| 22:19135174:A:G | I346T | 0.997 |
| 22:19137327:A:G | F344S | 0.997 |
| 22:19137403:C:G | G319R | 0.997 |
| 22:19137403:C:T | G319R | 0.997 |
| 22:19137404:C:A | W318C | 0.997 |
dbSNP variants (sampled 300 via entrez): RS1000008133 (22:19137016 A>G), RS1000245173 (22:19136199 T>C), RS1000322876 (22:19131568 C>G,T), RS1000493130 (22:19140826 A>C), RS1000822566 (22:19145436 G>C), RS1001020279 (22:19134948 C>T), RS1001107807 (22:19145200 A>G), RS1001266142 (22:19130079 A>C,G), RS1001344751 (22:19136328 T>A,C), RS1001564102 (22:19136090 A>G), RS1001705475 (22:19146424 T>A,C), RS1001731346 (22:19130450 A>G), RS1002259473 (22:19140840 T>C), RS1002423323 (22:19145541 G>A), RS1002641122 (22:19141045 G>A)
Disease associations
OMIM: gene MIM:601755 | disease phenotypes: MIM:608363
GenCC curated gene-disease
Mondo (1): chromosome 22q11.2 microduplication syndrome (MONDO:0012020)
Orphanet (1): 22q11.2 duplication syndrome (Orphanet:1727)
HPO phenotypes
39 total (30 of 39 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000023 | Inguinal hernia |
| HP:0000028 | Cryptorchidism |
| HP:0000175 | Cleft palate |
| HP:0000176 | Submucous cleft hard palate |
| HP:0000194 | Open mouth |
| HP:0000201 | Pierre-Robin sequence |
| HP:0000220 | Velopharyngeal insufficiency |
| HP:0000252 | Microcephaly |
| HP:0000278 | Retrognathia |
| HP:0000414 | Bulbous nose |
| HP:0000430 | Underdeveloped nasal alae |
| HP:0000581 | Blepharophimosis |
| HP:0000598 | Abnormality of the ear |
| HP:0000627 | Posterior embryotoxon |
| HP:0000712 | Emotional lability |
| HP:0000718 | Aggressive behavior |
| HP:0000829 | Hypoparathyroidism |
| HP:0001155 | Abnormality of the hand |
| HP:0001249 | Intellectual disability |
| HP:0001252 | Hypotonia |
| HP:0001328 | Specific learning disability |
| HP:0001537 | Umbilical hernia |
| HP:0001611 | Hypernasal speech |
| HP:0001629 | Ventricular septal defect |
| HP:0001636 | Tetralogy of Fallot |
| HP:0001883 | Talipes |
| HP:0002627 | Right aortic arch with mirror image branching |
| HP:0002719 | Recurrent infections |
| HP:0002901 | Hypocalcemia |
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST009391_356 | Metabolite levels | 8.000000e-07 |
| GCST009391_365 | Metabolite levels | 3.000000e-06 |
| GCST009391_469 | Metabolite levels | 1.000000e-06 |
| GCST009391_916 | Metabolite levels | 8.000000e-06 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0010434 | triacylglycerol 56:7 measurement |
| EFO:0010435 | triacylglycerol 56:8 measurement |
| EFO:0010442 | triacylglycerol 58:8 measurement |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| C567224 | Chromosome 22q11.2 Microduplication Syndrome (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
29 total (human), top 29 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects cotreatment, increases abundance, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| TAK-243 | increases sumoylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| cobaltous chloride | increases expression | 1 |
| manganese chloride | increases expression, affects cotreatment, increases abundance | 1 |
| coumarin | increases phosphorylation | 1 |
| N,N,N’,N’-tetrakis(2-pyridylmethyl)ethylenediamine | decreases expression | 1 |
| abrine | increases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | decreases expression | 1 |
| Arsenic | increases expression, affects cotreatment, increases abundance | 1 |
| Atrazine | decreases expression | 1 |
| Caffeine | increases phosphorylation | 1 |
| Doxorubicin | increases expression | 1 |
| Lead | decreases expression | 1 |
| Manganese | increases abundance, increases expression, affects cotreatment | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Quercetin | decreases phosphorylation | 1 |
| Selenium | increases expression | 1 |
| Smoke | decreases expression | 1 |
| Sulindac | increases expression | 1 |
| Tetrachlorodibenzodioxin | decreases expression | 1 |
| Thiram | increases expression | 1 |
| Urethane | increases expression | 1 |
| Valproic Acid | decreases expression | 1 |
| Vitamin E | increases expression | 1 |
| Cyclosporine | increases expression | 1 |
| tert-Butylhydroperoxide | increases expression | 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): chromosome 22q11.2 microduplication syndrome