IKZF5
geneOn this page
Also known as PegasusFLJ22973
Summary
IKZF5 (IKAROS family zinc finger 5, HGNC:14283) is a protein-coding gene on chromosome 10q26.13, encoding Zinc finger protein Pegasus (Q9H5V7). Transcriptional repressor that binds the core 5’GNNTGTNG-3’ DNA consensus sequence.
Members of the Ikaros (ZNFN1A1; MIM 603023) family of transcription factors, which includes Pegasus, are expressed in lymphocytes and are implicated in the control of lymphoid development.
Source: NCBI Gene 64376 — RefSeq curated summary.
At a glance
- Gene–disease (curated): thrombocytopenia 7 (Strong, GenCC) — +1 more curated relationship
- Clinical variants (ClinVar): 32 total — 2 pathogenic, 2 likely-pathogenic
- Phenotypes (HPO): 9
- MANE Select transcript:
NM_001372123
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14283 |
| Approved symbol | IKZF5 |
| Name | IKAROS family zinc finger 5 |
| Location | 10q26.13 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | Pegasus, FLJ22973 |
| Ensembl gene | ENSG00000095574 |
| Ensembl biotype | protein_coding |
| OMIM | 606238 |
| Entrez | 64376 |
Gene structure
Transcript identifiers
Ensembl transcripts: 17 — 14 protein_coding, 3 protein_coding_CDS_not_defined
ENST00000368886, ENST00000469821, ENST00000479103, ENST00000496605, ENST00000617859, ENST00000904850, ENST00000904851, ENST00000904852, ENST00000904853, ENST00000904854, ENST00000904855, ENST00000904856, ENST00000904857, ENST00000934440, ENST00000934441, ENST00000934442, ENST00000934443
RefSeq mRNA: 10 — MANE Select: NM_001372123
NM_001271840, NM_001372123, NM_001372124, NM_001372125, NM_001372126, NM_001372127, NM_001372128, NM_001372129, NM_001372130, NM_001372131
CCDS: CCDS41574
Canonical transcript exons
ENST00000368886 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001016085 | 123007026 | 123007176 |
| ENSE00001448203 | 122990807 | 122994723 |
| ENSE00001889065 | 123008694 | 123008795 |
| ENSE00003550778 | 122995994 | 122996176 |
| ENSE00003643508 | 122998493 | 122998671 |
Expression profiles
Bgee: expression breadth ubiquitous, 262 present calls, max score 88.97.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.6855 / max 215.3042, expressed in 1763 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 111774 | 12.3075 | 1761 |
| 111773 | 0.3780 | 140 |
Top tissues by expression
280 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| endothelial cell | CL:0000115 | 88.97 | gold quality |
| body of pancreas | UBERON:0001150 | 86.70 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 86.40 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 86.13 | gold quality |
| left ovary | UBERON:0002119 | 85.97 | gold quality |
| pancreas | UBERON:0001264 | 85.54 | gold quality |
| monocyte | CL:0000576 | 85.52 | gold quality |
| mononuclear cell | CL:0000842 | 85.38 | gold quality |
| islet of Langerhans | UBERON:0000006 | 85.32 | gold quality |
| ovary | UBERON:0000992 | 85.24 | gold quality |
| leukocyte | CL:0000738 | 85.20 | gold quality |
| spinal cord | UBERON:0002240 | 85.02 | gold quality |
| skin of abdomen | UBERON:0001416 | 84.87 | gold quality |
| mammary duct | UBERON:0001765 | 84.54 | gold quality |
| right lobe of liver | UBERON:0001114 | 84.35 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 84.26 | gold quality |
| right ovary | UBERON:0002118 | 84.26 | gold quality |
| gastrocnemius | UBERON:0001388 | 84.24 | gold quality |
| rectum | UBERON:0001052 | 84.22 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 84.16 | gold quality |
| cerebellar cortex | UBERON:0002129 | 84.07 | gold quality |
| bone marrow | UBERON:0002371 | 83.88 | gold quality |
| tibial nerve | UBERON:0001323 | 83.83 | gold quality |
| muscle of leg | UBERON:0001383 | 83.77 | gold quality |
| corpus callosum | UBERON:0002336 | 83.70 | gold quality |
| skin of leg | UBERON:0001511 | 83.52 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 83.51 | gold quality |
| mucosa of stomach | UBERON:0001199 | 83.45 | gold quality |
| right lung | UBERON:0002167 | 83.31 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 83.27 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 3.80 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
1 targets.
| Target | Regulation |
|---|---|
| LNPEP | Activation |
Literature-anchored findings (GeneRIF, showing 2)
- IKZF5 is a novel transcriptional regulator of megakaryopoiesis and the eighth transcription factor associated with dominant thrombocytopenia in humans. (PMID:31217188)
- Highly impaired platelet ultrastructure in two families with novel IKZF5 variants. (PMID:32419556)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ikzf5 | ENSDARG00000056491 |
| mus_musculus | Ikzf5 | ENSMUSG00000040167 |
| rattus_norvegicus | Ikzf5 | ENSRNOG00000025651 |
Paralogs (38): ZFX (ENSG00000005889), ZBTB11 (ENSG00000066422), ZFAT (ENSG00000066827), ZFY (ENSG00000067646), ZNF586 (ENSG00000083828), ZNF419 (ENSG00000105136), ZNF549 (ENSG00000121406), ZSCAN20 (ENSG00000121903), ZNF304 (ENSG00000131845), PRDM15 (ENSG00000141956), ZNF660 (ENSG00000144792), ZNF711 (ENSG00000147180), ZNF773 (ENSG00000152439), ZNF256 (ENSG00000152454), ZNF837 (ENSG00000152475), ZNF691 (ENSG00000164011), ZNF610 (ENSG00000167554), E4F1 (ENSG00000167967), ZNF562 (ENSG00000171466), ZNF561 (ENSG00000171469), ZNF584 (ENSG00000171574), ZIK1 (ENSG00000171649), ZNF570 (ENSG00000171827), ZSCAN2 (ENSG00000176371), ZNF552 (ENSG00000178935), ZNF154 (ENSG00000179909), ZNF792 (ENSG00000180884), ZNF793 (ENSG00000188227), ZNF548 (ENSG00000188785), ZNF79 (ENSG00000196152), ZNF418 (ENSG00000196724), ZNF772 (ENSG00000197128), ZNF583 (ENSG00000198440), ZNF480 (ENSG00000198464), ZNF551 (ENSG00000204519), ZNF134 (ENSG00000213762), ZNF587B (ENSG00000269343), ZNF8 (ENSG00000278129)
Protein
Protein identifiers
Zinc finger protein Pegasus — Q9H5V7 (reviewed: Q9H5V7)
Alternative names: Ikaros family zinc finger protein 5
All UniProt accessions (1): Q9H5V7
UniProt curated annotations — full annotation on UniProt →
Function. Transcriptional repressor that binds the core 5’GNNTGTNG-3’ DNA consensus sequence. Involved in megakaryocyte differentiation.
Subunit / interactions. Self-associates. Interacts with other family members; IKZF1, IKZF2, IKZF3 and IKZF4.
Subcellular location. Nucleus.
Tissue specificity. Expressed in brain, heart, skeletal muscle, kidney, and liver. Expressed in the hematopoietic cell lines MOLT-4, NALM-6 and K-562. Highly expressed in THP-1 and M-07e cell lines, which have characteristics of myeloid and early megakaryocytic cells respectively.
Disease relevance. Thrombocytopenia 7 (THC7) [MIM:619130] A form of thrombocytopenia, a hematologic disorder defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. THC7 is an autosomal dominant form with highly variable severity, ranging from absence of bleeding symptoms to epistaxis or more severe bleeding episodes. The disease may be caused by variants affecting the gene represented in this entry.
Domain organisation. The N-terminal zinc fingers are involved in sequence-specific DNA binding and heterotypic associations with other family members. C-terminal zinc fingers mediate homodimerization.
Miscellaneous. ‘Pegasus’ was the winged horse in Greek mythology.
Similarity. Belongs to the Ikaros C2H2-type zinc-finger protein family.
RefSeq proteins (10): NP_001258769, NP_001359052, NP_001359053, NP_001359054, NP_001359055, NP_001359056, NP_001359057, NP_001359058, NP_001359059, NP_001359060 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR013087 | Znf_C2H2_type | Domain |
| IPR036236 | Znf_C2H2_sf | Homologous_superfamily |
| IPR050589 | Ikaros_C2H2-ZF | Family |
UniProt features (24 total): mutagenesis site 7, zinc finger region 5, compositionally biased region 4, cross-link 2, sequence variant 2, region of interest 2, chain 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9H5V7-F1 | 54.37 | 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 (2): 5, 185
Mutagenesis-validated functional residues (7):
| Position | Phenotype |
|---|---|
| 89 | decreased protein abundance. decreased chromatin binding. decreased localization to the nucleus. tends to remain in the |
| 96 | decreased protein abundance. decreased chromatin binding. decreased localization to the nucleus. tends to remain in the |
| 98 | no effect on protein abundance. no effect on chromatin binding. no effect on localization to the nucleus. |
| 134 | decreased protein abundance. decreased chromatin binding. decreased localization to the nucleus. tends to remain in the |
| 140 | decreased protein abundance. decreased chromatin binding. decreased localization to the nucleus. tends to remain in the |
| 155 | decreased protein abundance. decreased chromatin binding. decreased localization to the nucleus. tends to remain in the |
| 200 | no effect on protein abundance. no effect on chromatin binding. no effect on localization to the nucleus. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 184 (showing top):
YAATNRNNNYNATT_UNKNOWN, SP3_Q3, PAX2_01, WTGAAAT_UNKNOWN, TGIF_01, GARY_CD5_TARGETS_DN, MYOD_Q6, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, CUI_TCF21_TARGETS_2_DN, CART1_01, YNGTTNNNATT_UNKNOWN, GOMF_CHROMATIN_BINDING, TAATTA_CHX10_01, AHR_Q5, CAGTGTT_MIR141_MIR200A
GO Biological Process (2): negative regulation of transcription by RNA polymerase II (GO:0000122), regulation of transcription by RNA polymerase II (GO:0006357)
GO Molecular Function (10): RNA polymerase II transcription regulatory region sequence-specific DNA binding (GO:0000977), RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription repressor activity, RNA polymerase II-specific (GO:0001227), chromatin binding (GO:0003682), DNA-binding transcription factor activity (GO:0003700), zinc ion binding (GO:0008270), protein domain specific binding (GO:0019904), DNA binding (GO:0003677), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (2): nucleus (GO:0005634), protein-containing complex (GO:0032991)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| transcription by RNA polymerase II | 2 |
| regulation of DNA-templated transcription | 2 |
| transcription cis-regulatory region binding | 2 |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 2 |
| binding | 2 |
| regulation of transcription by RNA polymerase II | 1 |
| negative regulation of DNA-templated transcription | 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 |
| transcription regulator activity | 1 |
| transition metal ion binding | 1 |
| protein binding | 1 |
| nucleic acid binding | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| cellular_component | 1 |
Protein interactions and networks
STRING
826 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| IKZF5 | IPO11 | Q9UI26 | 428 |
| IKZF5 | YEATS2 | Q9ULM3 | 425 |
| IKZF5 | SH3BP5L | Q7L8J4 | 343 |
| IKZF5 | PUM3 | Q15397 | 338 |
| IKZF5 | CWF19L1 | Q69YN2 | 328 |
| IKZF5 | CBFA2T2 | O43439 | 323 |
| IKZF5 | SLFN14 | P0C7P3 | 307 |
| IKZF5 | HMGN3 | Q15651 | 302 |
| IKZF5 | PIDD1 | Q9HB75 | 297 |
| IKZF5 | TNPO1 | Q92973 | 291 |
| IKZF5 | IKZF3 | Q9UKT9 | 291 |
| IKZF5 | CRBN | Q96SW2 | 290 |
| IKZF5 | MED13L | Q71F56 | 288 |
| IKZF5 | YOD1 | Q5VVQ6 | 282 |
| IKZF5 | ACADSB | P45954 | 281 |
IntAct
18 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| IKZF5 | IKZF3 | psi-mi:“MI:0915”(physical association) | 0.670 |
| IKZF5 | CCNB1 | psi-mi:“MI:0914”(association) | 0.640 |
| IKZF1 | IKZF5 | psi-mi:“MI:0915”(physical association) | 0.550 |
| IKZF5 | IKZF5 | psi-mi:“MI:0915”(physical association) | 0.370 |
| Set | ZKSCAN1 | psi-mi:“MI:0914”(association) | 0.350 |
| IKZF5 | PEX14 | psi-mi:“MI:0914”(association) | 0.350 |
| IKZF1 | MTA2 | psi-mi:“MI:0914”(association) | 0.350 |
| P | psi-mi:“MI:0914”(association) | 0.350 | |
| NPM1 | RPS3A | psi-mi:“MI:0914”(association) | 0.350 |
| IKZF5 | TADA2A | psi-mi:“MI:0914”(association) | 0.350 |
| AIM2 | DDX39A | psi-mi:“MI:0914”(association) | 0.350 |
| ESR2 | PSMD11 | psi-mi:“MI:0914”(association) | 0.350 |
| LHX3 | BCL9 | psi-mi:“MI:2364”(proximity) | 0.270 |
| IKZF5 | EEF1D | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (121): IKZF5 (Two-hybrid), IKZF5 (Two-hybrid), IKZF5 (Two-hybrid), IKZF5 (Two-hybrid), IKZF5 (Affinity Capture-MS), CHD8 (Affinity Capture-MS), MIB2 (Affinity Capture-MS), ZC3H3 (Affinity Capture-MS), IKZF2 (Affinity Capture-MS), IKZF3 (Affinity Capture-MS), AHDC1 (Affinity Capture-MS), CCDC77 (Affinity Capture-MS), TCF7L2 (Affinity Capture-MS), ZNF518B (Affinity Capture-MS), ZZZ3 (Affinity Capture-MS)
ESM2 similar proteins: A0JPB4, A1L1J6, A2VDW9, A4IFJ6, O00409, O08876, O08900, O13089, O15060, O15062, O42410, O57415, O60315, O75626, O89091, P14404, P25932, P36197, P37275, P55878, P55879, P81183, Q03267, Q0VDT2, Q13422, Q33BP8, Q3BJS3, Q3UH06, Q499D0, Q5R9W9, Q5T0B9, Q5ZLR2, Q5ZM39, Q60636, Q62255, Q62947, Q64318, Q6DBW0, Q6NRM0, Q6XDT4
Diamond homologs: A0JPB4, A2VDW9, A4IFJ6, H2L008, O08900, O13089, O42410, O62537, O62538, O62541, O96785, P05084, P13361, P81183, Q01778, Q01791, Q03267, Q13422, Q25514, Q5R9W9, Q5ZLR2, Q6DBW0, Q6NRM0, Q6XDT4, Q6XDT6, Q8BU00, Q8C208, Q90ZS6, Q925H1, Q9H2S9, Q9H5V7, Q9UHF7, Q9UKS7, Q9UKT9, Q9BLC4, Q9HCK0, Q5JPB2, Q65XX7, O18326, O46232
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| IKZF5 | “up-regulates quantity by expression” | LNPEP | “transcriptional regulation” |
Disease & clinical
Clinical variants and AI predictions
ClinVar
32 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 2 |
| Likely pathogenic | 2 |
| Uncertain significance | 15 |
| Likely benign | 4 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (4)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1684455 | NM_001372123.1(IKZF5):c.463C>T (p.His155Tyr) | Pathogenic |
| 1684456 | NM_001372123.1(IKZF5):c.418T>C (p.Cys140Arg) | Pathogenic |
| 1703863 | NM_001372123.1(IKZF5):c.362A>T (p.Tyr121Phe) | Likely pathogenic |
| 2671954 | NM_001372123.1(IKZF5):c.296_300delinsTGTGGATT (p.Glu99_His100delinsValTrpIle) | Likely pathogenic |
SpliceAI
1032 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 10:122995988:CATTA:C | donor_loss | 1.0000 |
| 10:122995992:ACC:A | donor_loss | 1.0000 |
| 10:122995993:CC:C | donor_loss | 1.0000 |
| 10:122996172:TCCAG:T | acceptor_gain | 1.0000 |
| 10:122996173:CCAG:C | acceptor_gain | 1.0000 |
| 10:122996173:CCAGC:C | acceptor_gain | 1.0000 |
| 10:122996174:CAG:C | acceptor_gain | 1.0000 |
| 10:122996174:CAGC:C | acceptor_gain | 1.0000 |
| 10:122996175:AG:A | acceptor_gain | 1.0000 |
| 10:122996177:C:CC | acceptor_gain | 1.0000 |
| 10:122996179:A:C | acceptor_gain | 1.0000 |
| 10:122996184:C:CT | acceptor_gain | 1.0000 |
| 10:122996185:A:T | acceptor_gain | 1.0000 |
| 10:122996188:G:C | acceptor_gain | 1.0000 |
| 10:122996192:C:CT | acceptor_gain | 1.0000 |
| 10:122996192:C:T | acceptor_gain | 1.0000 |
| 10:122998494:T:TA | donor_gain | 1.0000 |
| 10:123008689:CTTA:C | donor_loss | 1.0000 |
| 10:123008690:TTACC:T | donor_loss | 1.0000 |
| 10:123008691:TACC:T | donor_loss | 1.0000 |
| 10:123008692:A:AC | donor_gain | 1.0000 |
| 10:123008692:ACCT:A | donor_gain | 1.0000 |
| 10:123008693:C:CC | donor_gain | 1.0000 |
| 10:123008693:CCT:C | donor_gain | 1.0000 |
| 10:123008693:CCTC:C | donor_gain | 1.0000 |
| 10:122994720:TCACC:T | acceptor_loss | 0.9900 |
| 10:122994722:ACC:A | acceptor_loss | 0.9900 |
| 10:122994723:CCTGT:C | acceptor_loss | 0.9900 |
| 10:122994724:C:CG | acceptor_loss | 0.9900 |
| 10:122994725:T:C | acceptor_loss | 0.9900 |
AlphaMissense
2807 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 10:122994605:G:C | F145L | 1.000 |
| 10:122994605:G:T | F145L | 1.000 |
| 10:122994607:A:G | F145L | 1.000 |
| 10:122994622:A:G | C140R | 1.000 |
| 10:122994651:C:G | R130P | 1.000 |
| 10:122994658:G:C | H128D | 1.000 |
| 10:122994666:A:G | L125P | 1.000 |
| 10:122994689:A:C | F117L | 1.000 |
| 10:122994689:A:T | F117L | 1.000 |
| 10:122994691:A:G | F117L | 1.000 |
| 10:122994695:A:C | C115W | 1.000 |
| 10:122994697:A:G | C115R | 1.000 |
| 10:122994706:A:G | C112R | 1.000 |
| 10:122996010:G:C | H100Q | 1.000 |
| 10:122996010:G:T | H100Q | 1.000 |
| 10:122996020:A:G | L97P | 1.000 |
| 10:122996049:G:C | C87W | 1.000 |
| 10:122996060:A:G | C84R | 1.000 |
| 10:122993860:A:G | C394R | 0.999 |
| 10:122993942:G:C | C366W | 0.999 |
| 10:122993944:A:G | C366R | 0.999 |
| 10:122994574:G:C | H156D | 0.999 |
| 10:122994582:A:G | L153S | 0.999 |
| 10:122994599:G:C | C147W | 0.999 |
| 10:122994601:A:G | C147R | 0.999 |
| 10:122994606:A:G | F145S | 0.999 |
| 10:122994611:A:C | C143W | 0.999 |
| 10:122994612:C:T | C143Y | 0.999 |
| 10:122994613:A:G | C143R | 0.999 |
| 10:122994620:A:C | C140W | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000031405 (10:123004933 A>C,G), RS1000048298 (10:123002806 C>A), RS1000547978 (10:123004586 C>T), RS1000587053 (10:122991926 T>A), RS1000860936 (10:122999707 A>G,T), RS1000872216 (10:123006312 G>A,C), RS1001205784 (10:122991178 C>G,T), RS1001243828 (10:122998095 C>A,T), RS1001300456 (10:122990343 T>A,C), RS1001314278 (10:122997774 T>A), RS1001440292 (10:123006523 ATCTTCCT>A), RS1001472198 (10:123004757 T>A,C), RS1001603438 (10:123005060 G>A,T), RS1001773684 (10:122990661 G>A), RS1001881864 (10:122998217 T>C)
Disease associations
OMIM: gene MIM:606238 | disease phenotypes: MIM:610006, MIM:619130, MIM:618250
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| thrombocytopenia 7 | Strong | Autosomal dominant |
| autosomal thrombocytopenia with normal platelets | Supportive | Autosomal dominant |
ClinGen Gene-Disease Validity (1)
Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.
| Disease | Classification | Inheritance |
|---|---|---|
| thrombocytopenia 7 | Moderate | AD |
Mondo (4): 2-methylbutyryl-CoA dehydrogenase deficiency (MONDO:0012392), thrombocytopenia 7 (MONDO:0030867), mitochondrial complex I deficiency, nuclear type 29 (MONDO:0032633), (MONDO:0015679)
Orphanet (1): 2-methylbutyryl-CoA dehydrogenase deficiency (Orphanet:79157)
HPO phenotypes
9 total (9 of 9 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0001873 | Thrombocytopenia |
| HP:0004866 | Impaired ADP-induced platelet aggregation |
| HP:0008320 | Impaired collagen-induced platelet aggregation |
| HP:0011870 | Impaired arachidonic acid-induced platelet aggregation |
| HP:0011871 | Impaired ristocetin-induced platelet aggregation |
| HP:0011891 | Post-partum hemorrhage |
| HP:0033535 | Reduced platelet dense granules |
| HP:0033536 | Reduced platelet alpha granules |
GWAS associations
0 associations (top):
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| C566487 | 2-Methylbutyryl-CoA Dehydrogenase Deficiency (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 |
|---|---|---|
| Cyclosporine | increases expression | 3 |
| Cisplatin | decreases expression, increases expression | 2 |
| Valproic Acid | affects expression, decreases expression | 2 |
| GSK-J4 | increases expression | 1 |
| TAK-243 | decreases sumoylation | 1 |
| methylmercuric chloride | decreases expression | 1 |
| beta-lapachone | increases expression, decreases expression | 1 |
| sodium arsenite | affects cotreatment, increases abundance, increases expression | 1 |
| manganese chloride | affects cotreatment, increases abundance, increases expression | 1 |
| resorcinol | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| cylindrospermopsin | increases expression | 1 |
| dimethylarsinous acid | increases expression | 1 |
| abrine | increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Zoledronic Acid | decreases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Air Pollutants, Occupational | affects expression | 1 |
| Arsenic | increases expression, affects cotreatment, increases abundance | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Doxorubicin | decreases expression | 1 |
| Manganese | affects cotreatment, increases abundance, increases expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Urethane | increases expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Asbestos, Crocidolite | increases expression | 1 |
| Antirheumatic Agents | increases expression | 1 |
| Copper Sulfate | 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_A3E1 | SEES3-1V human IKZF5, clone1 | Embryonic stem cell | Male |
| CVCL_A3E2 | SEES3-1V human IKZF5, clone2 | Embryonic stem cell | Male |
| CVCL_A3E3 | SEES3-1V human IKZF5, clone3 | Embryonic stem cell | Male |
Clinical trials (associated diseases)
1 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT05910151 | Not specified | UNKNOWN | Selective Screening of Children for Hereditary Metabolic Diseases by Tandem Mass Spectrometry in Kazakhstan |
Related Atlas pages
- Associated diseases: thrombocytopenia 7
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): 2-methylbutyryl-CoA dehydrogenase deficiency, mitochondrial complex I deficiency, nuclear type 29, thrombocytopenia 7