ZSCAN10
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Summary
ZSCAN10 (zinc finger and SCAN domain containing 10, HGNC:12997) is a protein-coding gene on chromosome 16p13.3, encoding Zinc finger and SCAN domain-containing protein 10 (Q96SZ4). Embryonic stem (ES) cell-specific transcription factor required to maintain ES cell pluripotency.
Predicted to enable DNA-binding transcription factor 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 DNA-templated transcription and regulation of transcription by RNA polymerase II. Predicted to be located in nucleoplasm. Predicted to be active in nucleus.
Source: NCBI Gene 84891 — RefSeq curated summary.
At a glance
- Gene–disease (curated): otofacial neurodevelopmental syndrome (Strong, GenCC)
- Clinical variants (ClinVar): 165 total — 5 pathogenic
- Phenotypes (HPO): 33
- MANE Select transcript:
NM_032805
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:12997 |
| Approved symbol | ZSCAN10 |
| Name | zinc finger and SCAN domain containing 10 |
| Location | 16p13.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000130182 |
| Ensembl biotype | protein_coding |
| OMIM | 618365 |
| Entrez | 84891 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 7 protein_coding, 2 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000252463, ENST00000538082, ENST00000571903, ENST00000572431, ENST00000572548, ENST00000573931, ENST00000575108, ENST00000576483, ENST00000576985, ENST00000577059
RefSeq mRNA: 5 — MANE Select: NM_032805
NM_001282415, NM_001282416, NM_001365272, NM_001365273, NM_032805
CCDS: CCDS10493, CCDS61813, CCDS61814
Canonical transcript exons
ENST00000576985 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002665101 | 3088890 | 3090646 |
| ENSE00002680268 | 3099190 | 3099294 |
| ENSE00003484450 | 3092049 | 3092316 |
| ENSE00003522626 | 3091764 | 3091828 |
| ENSE00003551682 | 3092542 | 3093004 |
| ENSE00003629100 | 3091540 | 3091597 |
Expression profiles
Bgee: expression breadth broad, 75 present calls, max score 69.13.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 1.8688 / max 128.7825, expressed in 113 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 156009 | 1.7915 | 113 |
| 156008 | 0.0773 | 44 |
Top tissues by expression
219 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 69.13 | gold quality |
| cerebellar vermis | UBERON:0004720 | 59.11 | gold quality |
| bone marrow cell | CL:0002092 | 52.69 | gold quality |
| colonic epithelium | UBERON:0000397 | 50.30 | gold quality |
| cerebellar cortex | UBERON:0002129 | 49.09 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 49.00 | gold quality |
| skin of hip | UBERON:0001554 | 48.57 | silver quality |
| cerebellum | UBERON:0002037 | 48.50 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 47.67 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 46.76 | silver quality |
| upper leg skin | UBERON:0004262 | 45.48 | silver quality |
| thymus | UBERON:0002370 | 45.07 | gold quality |
| gastrocnemius | UBERON:0001388 | 44.92 | gold quality |
| granulocyte | CL:0000094 | 44.54 | silver quality |
| ventricular zone | UBERON:0003053 | 44.33 | silver quality |
| blood | UBERON:0000178 | 44.28 | gold quality |
| muscle of leg | UBERON:0001383 | 43.98 | gold quality |
| sural nerve | UBERON:0015488 | 43.51 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 43.37 | gold quality |
| quadriceps femoris | UBERON:0001377 | 43.28 | gold quality |
| bone marrow | UBERON:0002371 | 42.99 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 42.59 | gold quality |
| secondary oocyte | CL:0000655 | 42.57 | gold quality |
| vastus lateralis | UBERON:0001379 | 41.41 | gold quality |
| superficial temporal artery | UBERON:0001614 | 41.33 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 41.10 | gold quality |
| medial globus pallidus | UBERON:0002477 | 41.10 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 40.98 | gold quality |
| amniotic fluid | UBERON:0000173 | 40.69 | gold quality |
| globus pallidus | UBERON:0001875 | 40.69 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 2.62 |
| E-MTAB-7008 | no | 211.50 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
3 targets.
| Target | Regulation |
|---|---|
| NANOG | Activation |
| POU5F1 | Unknown |
| ZSCAN10 |
Upstream regulators (CollecTRI, top): POU5F1, SOX2, ZSCAN10
miRNA regulators (miRDB)
12 targeting ZSCAN10, 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-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-4455 | 100.00 | 65.48 | 1587 |
| HSA-MIR-4493 | 99.90 | 66.48 | 977 |
| HSA-MIR-3202 | 99.66 | 67.70 | 2737 |
| HSA-MIR-12131 | 99.48 | 68.72 | 1673 |
| HSA-MIR-4796-3P | 99.08 | 68.38 | 1681 |
| HSA-MIR-9500 | 98.62 | 66.54 | 1845 |
| HSA-MIR-6815-5P | 96.05 | 65.55 | 662 |
| HSA-MIR-6865-5P | 96.05 | 65.58 | 675 |
| HSA-MIR-4750-5P | 80.79 | 59.79 | 18 |
Literature-anchored findings (GeneRIF, showing 4)
- Data indicates that changes in DNA methylation levels at the Zfp206-exon 5 might be one of the important factors during neuronal development in mice and the hypomethylation of the homologous region induced ZNF206 expression in humans. (PMID:22011711)
- We demonstrated that SLC16A5 and ZNF206 displayed altered methylation patterns in the neuroblastoma genome (PMID:22911660)
- The pluripotency factor ZSCAN10 is poorly expressed in A-iPSCs and addition of ZSCAN10 to the four Yamanaka factors (OCT4, SOX2, KLF4 and c-MYC) during A-iPSC reprogramming normalizes ROS-glutathione homeostasis and the DNA damage response, and recovers genomic stability. (PMID:28846095)
- ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations. (PMID:38386308)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Zscan10 | ENSMUSG00000023902 |
| rattus_norvegicus | Zscan10 | ENSRNOG00000021782 |
Paralogs (176): ZNF195 (ENSG00000005801), ZNF112 (ENSG00000062370), ZNF275 (ENSG00000063587), ZNF37A (ENSG00000075407), ZNF510 (ENSG00000081386), ZNF506 (ENSG00000081665), ZNF268 (ENSG00000090612), MZF1 (ENSG00000099326), ZNF629 (ENSG00000102870), ZNF175 (ENSG00000105497), ZNF85 (ENSG00000105750), ZFP30 (ENSG00000120784), ZNF45 (ENSG00000124459), ZNF391 (ENSG00000124613), ZNF436 (ENSG00000125945), ZNF484 (ENSG00000127081), ZNF835 (ENSG00000127903), ZNF780B (ENSG00000128000), ZNF317 (ENSG00000130803), ZNF331 (ENSG00000130844), ZNF227 (ENSG00000131115), ZNF141 (ENSG00000131127), ZNF132 (ENSG00000131849), ZNF189 (ENSG00000136870), ZIM3 (ENSG00000141946), ZFP14 (ENSG00000142065), ZNF514 (ENSG00000144026), ZNF300 (ENSG00000145908), RBAK (ENSG00000146587), ZNF157 (ENSG00000147117), ZNF182 (ENSG00000147118), ZNF41 (ENSG00000147124), ZNF7 (ENSG00000147789), ZNF117 (ENSG00000152926), ZNF221 (ENSG00000159905), ZNF235 (ENSG00000159917), ZNF714 (ENSG00000160352), ZNF577 (ENSG00000161551), ZNF12 (ENSG00000164631), ZNF3 (ENSG00000166526)
Protein
Protein identifiers
Zinc finger and SCAN domain-containing protein 10 — Q96SZ4 (reviewed: Q96SZ4)
Alternative names: Zinc finger protein 206
All UniProt accessions (5): Q96SZ4, A0A5P9VN71, I3L0Q3, I3L1J3, I3NI43
UniProt curated annotations — full annotation on UniProt →
Function. Embryonic stem (ES) cell-specific transcription factor required to maintain ES cell pluripotency. Can both activate and /or repress expression of target genes, depending on the context. Specifically binds the 5’-[GA]CGCNNGCG[CT]-3’ DNA consensus sequence. Regulates expression of POU5F1/OCT4, ZSCAN4 and ALYREF/THOC4.
Subunit / interactions. Interacts with POU5F1/OCT4 and SOX2.
Subcellular location. Nucleus.
Post-translational modifications. Methylated at Gln-483 by N6AMT1.
Disease relevance. Otofacial neurodevelopmental syndrome (OFNS) [MIM:620910] An autosomal recessive disorder characterized by mild to severe cognitive impairment, delayed or absent speech development, and behavioral abnormalities. Affected individuals have outer and inner ear malformations, hearing impairment, and variable facial asymmetry. The disease is caused by variants affecting the gene represented in this entry.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q96SZ4-1 | 1 | yes |
| Q96SZ4-2 | 2 | |
| Q96SZ4-3 | 3 |
RefSeq proteins (5): NP_001269344, NP_001269345, NP_001352201, NP_001352202, NP_116194* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003309 | SCAN_dom | Domain |
| IPR013087 | Znf_C2H2_type | Domain |
| IPR036236 | Znf_C2H2_sf | Homologous_superfamily |
| IPR038269 | SCAN_sf | Homologous_superfamily |
Pfam: PF00096, PF02023
UniProt features (34 total): zinc finger region 14, region of interest 4, compositionally biased region 4, modified residue 4, splice variant 3, sequence variant 2, chain 1, domain 1, mutagenesis site 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9L0V | X-RAY DIFFRACTION | 2 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96SZ4-F1 | 66.12 | 0.05 |
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): 162, 208, 268, 483
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 483 | abolishes methylation by n6amt1. |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-452723 | Transcriptional regulation of pluripotent stem cells |
MSigDB gene sets: 97 (showing top):
HAMAI_APOPTOSIS_VIA_TRAIL_DN, NIKOLSKY_BREAST_CANCER_16P13_AMPLICON, BENPORATH_ES_1, GSE13762_CTRL_VS_125_VITAMIND_DAY5_DC_DN, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, MIKKELSEN_ES_ICP_WITH_H3K4ME3, GOBP_NEGATIVE_REGULATION_OF_NUCLEOBASE_CONTAINING_COMPOUND_METABOLIC_PROCESS, RAO_BOUND_BY_SALL4, REACTOME_TRANSCRIPTIONAL_REGULATION_OF_PLURIPOTENT_STEM_CELLS, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, SALL4_TARGET_GENES, ZNF274_TARGET_GENES, GSE11924_TH1_VS_TH2_CD4_TCELL_UP, GSE13229_IMM_VS_MATURE_NKCELL_UP, HP_CRYPTORCHIDISM
GO Biological Process (2): regulation of transcription by RNA polymerase II (GO:0006357), negative regulation of DNA-templated transcription (GO:0045892)
GO Molecular Function (8): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription factor activity (GO:0003700), zinc ion binding (GO:0008270), sequence-specific DNA binding (GO:0043565), DNA binding (GO:0003677), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (2): nucleus (GO:0005634), nucleoplasm (GO:0005654)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Developmental Biology | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| regulation of DNA-templated transcription | 3 |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 2 |
| transcription by RNA polymerase II | 1 |
| DNA-templated transcription | 1 |
| negative regulation of RNA biosynthetic process | 1 |
| cis-regulatory region sequence-specific DNA binding | 1 |
| chromatin | 1 |
| DNA-binding transcription factor activity | 1 |
| regulation of transcription by RNA polymerase II | 1 |
| transcription cis-regulatory region binding | 1 |
| transcription regulator activity | 1 |
| transition metal ion binding | 1 |
| DNA binding | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
688 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZSCAN10 | POU5F1 | P31359 | 482 |
| ZSCAN10 | NANOG | Q9H9S0 | 480 |
| ZSCAN10 | ESRRB | O95718 | 452 |
| ZSCAN10 | SOX2 | P48431 | 451 |
| ZSCAN10 | UTF1 | Q5T230 | 448 |
| ZSCAN10 | DPPA4 | Q7L190 | 447 |
| ZSCAN10 | LIN28A | Q9H9Z2 | 417 |
| ZSCAN10 | CRIPTO | P13385 | 389 |
| ZSCAN10 | VRTN | Q9H8Y1 | 384 |
| ZSCAN10 | GATA6 | P78327 | 378 |
| ZSCAN10 | POGZ | Q7Z3K3 | 378 |
| ZSCAN10 | DPPA3 | Q6W0C5 | 370 |
| ZSCAN10 | CCDC120 | Q96HB5 | 367 |
| ZSCAN10 | TFAP2A | P05549 | 362 |
| ZSCAN10 | ZBTB21 | Q9ULJ3 | 354 |
| ZSCAN10 | GDF3 | Q9NR23 | 354 |
IntAct
4 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| KRTAP10-7 | ZSCAN10 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZSCAN10 | KRTAP10-7 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (4): ZSCAN10 (Affinity Capture-MS), ZSCAN10 (Affinity Capture-MS), KRTAP10-7 (Two-hybrid), ZSCAN10 (Proximity Label-MS)
ESM2 similar proteins: A0JNJ4, A2APT9, A6NEL2, A6NP61, B1ASB6, B1WBS3, B2RXF5, F6WEQ6, O15015, O43918, O88282, O88286, O95785, P98168, P98169, Q2M3G4, Q2MHN3, Q2QGD7, Q3U1J1, Q3U381, Q497V6, Q5SW24, Q5SXM2, Q6YND2, Q6ZMQ8, Q6ZMY3, Q7TN08, Q7TSX9, Q80SU3, Q80YE4, Q811H0, Q8BG26, Q8BZW2, Q8C8V1, Q8IX07, Q8IY92, Q8N143, Q8N1G0, Q8NC74, Q8TBE0
Diamond homologs: A1YEP8, A1YEQ3, A1YEV9, A1YFW2, A1YFW6, A1YG26, A1YG48, A1YG60, A1YGJ4, A1YGK6, A2T6E3, A2T6V8, A2T6W2, A2T712, A2T736, A2T7D2, A2T7D7, A2T7F2, A2T7F4, A2T7L7, A2T812, A6QNZ0, A6QPT6, B2KFW1, O14709, O14771, O14978, O15535, O43309, O60304, O95125, P10073, P17022, P17028, P17029, P17040, P28698, P49910, P51815, P59923
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
165 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 5 |
| Likely pathogenic | 0 |
| Uncertain significance | 137 |
| Likely benign | 15 |
| Benign | 4 |
Top pathogenic / likely-pathogenic (5)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1677001 | NM_032805.3(ZSCAN10):c.2050del (p.His684fs) | Pathogenic |
| 1677241 | NM_032805.3(ZSCAN10):c.1250C>A (p.Ser417Ter) | Pathogenic |
| 3335915 | NM_032805.3(ZSCAN10):c.1456C>T (p.Gln486Ter) | Pathogenic |
| 3335916 | NM_032805.3(ZSCAN10):c.1112del (p.Pro371fs) | Pathogenic |
| 3393116 | NM_032805.3(ZSCAN10):c.598_602del (p.Pro200fs) | Pathogenic |
SpliceAI
995 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:3090644:ATCC:A | acceptor_loss | 1.0000 |
| 16:3090646:CCTG:C | acceptor_loss | 1.0000 |
| 16:3092047:A:AC | donor_gain | 1.0000 |
| 16:3092048:C:CC | donor_gain | 1.0000 |
| 16:3092048:CTG:C | donor_gain | 1.0000 |
| 16:3090645:TC:T | acceptor_gain | 0.9900 |
| 16:3090646:CC:C | acceptor_gain | 0.9900 |
| 16:3090647:C:CC | acceptor_gain | 0.9900 |
| 16:3090648:T:A | acceptor_loss | 0.9900 |
| 16:3092016:AGT:A | donor_gain | 0.9900 |
| 16:3092597:T:TA | donor_gain | 0.9900 |
| 16:3092607:C:A | donor_gain | 0.9900 |
| 16:3099189:CCA:C | donor_gain | 0.9900 |
| 16:3099189:CCACT:C | donor_gain | 0.9900 |
| 16:3090655:C:CT | acceptor_gain | 0.9800 |
| 16:3092018:T:TA | donor_gain | 0.9800 |
| 16:3092027:T:TA | donor_gain | 0.9800 |
| 16:3092054:T:A | donor_gain | 0.9800 |
| 16:3092565:C:CA | donor_gain | 0.9800 |
| 16:3092592:C:CT | donor_gain | 0.9800 |
| 16:3092593:C:CT | donor_gain | 0.9800 |
| 16:3099183:AACTC:A | donor_loss | 0.9800 |
| 16:3099184:ACT:A | donor_loss | 0.9800 |
| 16:3099185:CT:C | donor_loss | 0.9800 |
| 16:3099186:TCA:T | donor_loss | 0.9800 |
| 16:3099189:C:CG | donor_loss | 0.9800 |
| 16:3099205:C:CT | donor_gain | 0.9800 |
| 16:3099206:T:TT | donor_gain | 0.9800 |
| 16:3090644:ATC:A | acceptor_gain | 0.9700 |
| 16:3091706:C:CT | donor_gain | 0.9700 |
AlphaMissense
5086 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 16:3089151:G:C | F706L | 0.999 |
| 16:3089151:G:T | F706L | 0.999 |
| 16:3089153:A:G | F706L | 0.999 |
| 16:3089337:G:C | F644L | 0.999 |
| 16:3089337:G:T | F644L | 0.999 |
| 16:3089339:A:G | F644L | 0.999 |
| 16:3089421:G:C | F616L | 0.999 |
| 16:3089421:G:T | F616L | 0.999 |
| 16:3089423:A:G | F616L | 0.999 |
| 16:3089505:G:C | F588L | 0.999 |
| 16:3089505:G:T | F588L | 0.999 |
| 16:3089507:A:G | F588L | 0.999 |
| 16:3089124:G:C | H715Q | 0.998 |
| 16:3089124:G:T | H715Q | 0.998 |
| 16:3089152:A:G | F706S | 0.998 |
| 16:3089208:G:C | H687Q | 0.998 |
| 16:3089208:G:T | H687Q | 0.998 |
| 16:3089235:G:C | F678L | 0.998 |
| 16:3089235:G:T | F678L | 0.998 |
| 16:3089237:A:G | F678L | 0.998 |
| 16:3089338:A:G | F644S | 0.998 |
| 16:3089382:G:C | H629Q | 0.998 |
| 16:3089382:G:T | H629Q | 0.998 |
| 16:3089394:A:C | H625Q | 0.998 |
| 16:3089394:A:T | H625Q | 0.998 |
| 16:3089396:G:C | H625D | 0.998 |
| 16:3089396:G:T | H625N | 0.998 |
| 16:3089422:A:G | F616S | 0.998 |
| 16:3089506:A:G | F588S | 0.998 |
| 16:3089589:G:C | F560L | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000119185 (16:3095802 T>C,G), RS1000198281 (16:3098650 A>C,G), RS1000211429 (16:3100650 T>A,C), RS1000355944 (16:3095547 G>C), RS1000378431 (16:3093667 T>C,G), RS1000410703 (16:3101254 G>A,C), RS1000792880 (16:3089912 C>T), RS1000816541 (16:3095335 G>A), RS1000846730 (16:3089623 C>G,T), RS1001675247 (16:3091207 G>A), RS1001678467 (16:3098596 G>A), RS1001812904 (16:3096953 C>A,T), RS1002117107 (16:3097216 C>G,T), RS1002156967 (16:3090964 G>A), RS1002223605 (16:3094175 G>A)
Disease associations
OMIM: gene MIM:618365 | disease phenotypes: MIM:620910
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| otofacial neurodevelopmental syndrome | Strong | Autosomal recessive |
Mondo (2): sensorineural hearing loss disorder (MONDO:0020678), otofacial neurodevelopmental syndrome (MONDO:0975705)
Orphanet (0):
HPO phenotypes
33 total (30 of 33 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000028 | Cryptorchidism |
| HP:0000054 | Micropenis |
| HP:0000175 | Cleft palate |
| HP:0000218 | High palate |
| HP:0000286 | Epicanthus |
| HP:0000297 | Facial hypotonia |
| HP:0000324 | Facial asymmetry |
| HP:0000358 | Posteriorly rotated ears |
| HP:0000365 | Hearing impairment |
| HP:0000369 | Low-set ears |
| HP:0000385 | Small earlobe |
| HP:0000396 | Overfolded helix |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000431 | Wide nasal bridge |
| HP:0000494 | Downslanted palpebral fissures |
| HP:0000505 | Visual impairment |
| HP:0000718 | Aggressive behavior |
| HP:0000729 | Autistic behavior |
| HP:0000733 | Motor stereotypy |
| HP:0001256 | Mild intellectual disability |
| HP:0001270 | Motor delay |
| HP:0002342 | Moderate intellectual disability |
| HP:0002591 | Polyphagia |
| HP:0003577 | Congenital onset |
| HP:0003623 | Neonatal onset |
| HP:0008551 | Microtia |
| HP:0009900 | Unilateral deafness |
| HP:0010864 | Severe intellectual disability |
| HP:0011236 | Angulated antihelix |
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
16 total (human), top 16 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| entinostat | increases expression, affects cotreatment | 2 |
| Phenylmercuric Acetate | decreases expression, affects cotreatment | 2 |
| Valproic Acid | affects expression, increases methylation | 2 |
| aristolochic acid I | increases expression | 1 |
| sodium arsenite | increases expression | 1 |
| aflatoxin B2 | increases methylation | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression, decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression, decreases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Arsenic | affects methylation | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Bucladesine | affects cotreatment, increases expression | 1 |
| Estradiol | increases expression, affects cotreatment | 1 |
| Plant Extracts | decreases expression, affects cotreatment | 1 |
| Medroxyprogesterone Acetate | affects cotreatment, increases expression | 1 |
| Antirheumatic Agents | decreases expression | 1 |
Cellosaurus cell lines
2 cell lines: 2 induced pluripotent stem cell
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_LI32 | A-iPSC-ZSCAN10-3 | Induced pluripotent stem cell | Male |
| CVCL_LI33 | A-iPSC-ZSCAN10-7 | Induced pluripotent stem cell | Male |
Clinical trials (associated diseases)
89 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT01655212 | PHASE3 | TERMINATED | Congenital Cytomegalovirus: Efficacy of Antiviral Treatment in a Randomized Controlled Trial |
| NCT02005822 | PHASE3 | COMPLETED | Congenital Cytomegalovirus: Efficacy of Antiviral Treatment |
| NCT03374514 | PHASE3 | UNKNOWN | Cochlear Electrical Impedance and the Effect of Topical Dexamethasone on Cochlear Implant Surgery |
| NCT02497690 | PHASE2 | COMPLETED | Effectiveness of Therapy Via Telemedicine Following Cochlear Implants |
| NCT03107871 | PHASE2 | ACTIVE_NOT_RECRUITING | Randomized Controlled Trial of Valganciclovir for Cytomegalovirus Infected Hearing Impaired Infants |
| NCT04120116 | PHASE2 | COMPLETED | FX-322 in Adults With Stable Sensorineural Hearing Loss |
| NCT05061758 | PHASE2 | WITHDRAWN | A Trial of LY3056480 in Patients With SNLH |
| NCT07364747 | PHASE2 | RECRUITING | Protective Effect of Acetylcysteine Against Cisplatinum-Induced Ototoxicity: A Randomized Controlled Trial |
| NCT02259595 | PHASE1 | COMPLETED | Study to Determine the Safety, Tolerability, and Pharmacokinetic Profile of HPN-07 and HPN-07 Plus NAC |
| NCT02693704 | PHASE2/PHASE3 | COMPLETED | Evaluation of a Binaural Spatialization Method for Hearing Aids |
| NCT02882477 | PHASE2/PHASE3 | UNKNOWN | Treatment of Wolfram Syndrome Type 2 With the Chelator Deferiprone and Incretin Based Therapy |
| NCT01267994 | PHASE1/PHASE2 | COMPLETED | A Clinical Trial of Anakinra for Steroid-Resistant Autoimmune Inner Ear Disease |
| NCT01902914 | PHASE1/PHASE2 | UNKNOWN | Effectiveness of P02 Digital Hearing Aids |
| NCT02038972 | PHASE1/PHASE2 | COMPLETED | Safety of Autologous Stem Cell Infusion for Children With Acquired Hearing Loss |
| NCT02616172 | PHASE1/PHASE2 | SUSPENDED | Autologous Bone Marrow Harvest and Transplant for Sensorineural Hearing Loss |
| NCT03616223 | PHASE1/PHASE2 | COMPLETED | FX-322 in Sensorineural Hearing Loss |
| NCT04129775 | PHASE1/PHASE2 | COMPLETED | OTO-413 in Subjects With Speech-in-Noise Hearing Impairment |
| NCT04462198 | PHASE1/PHASE2 | COMPLETED | Phase I/IIa Study Evaluating Safety and Efficacy of an Intratympanic Dose of PIPE-505 in Subjects With Hearing Loss |
| NCT07032038 | PHASE1/PHASE2 | NOT_YET_RECRUITING | First In Human Randomised Trial of Rincell-1 in Adults With a Cochlear Implant |
| NCT06025097 | EARLY_PHASE1 | COMPLETED | Intra-Tympanic Steroid With PRP Combination in Sensorineural Hearing Loss and Tinnitus. |
| NCT06707389 | EARLY_PHASE1 | NOT_YET_RECRUITING | Autologous Blood Monocyte Vesicles for the Treatment of Sudden Deafness |
| NCT07472023 | EARLY_PHASE1 | ENROLLING_BY_INVITATION | Regenerative Medicine and Stem Cell-Based Interventions for Inner Ear Trauma, Tinnitus, and Sensorineural Hearing Loss |
| NCT00023036 | Not specified | COMPLETED | Clinical and Genetic Analysis of Enlarged Vestibular Aqueducts |
| NCT00023049 | Not specified | COMPLETED | Genetic Analysis of Hereditary Disorders of Hearing and Balance |
| NCT00261768 | Not specified | COMPLETED | Efficacy of Digital Noise Reduction Strategies: A Hearing Aid Trial |
| NCT00589511 | Not specified | COMPLETED | Nucleus Freedom Cochlear Implant System Pediatric Post-approval Study |
| NCT00678899 | Not specified | COMPLETED | Evaluation of the Nucleus Hybrid™ L24 Cochlear Implant System |
| NCT00787189 | Not specified | COMPLETED | Study of Low Level Laser Therapy and Word Recognition in Hearing Impaired Individuals |
| NCT01184248 | Not specified | COMPLETED | The Effect of Sound Stimulation on Pure-tone Hearing Threshold |
| NCT01434446 | Not specified | COMPLETED | The Effect of Sound Stimulation on Hearing Ability |
| NCT01749592 | Not specified | COMPLETED | Single-sided Deafness and Cochlear Implants |
| NCT01781039 | Not specified | COMPLETED | Investigation of Anatomical Correlates of Speech Discrimination |
| NCT02082431 | Not specified | COMPLETED | Determine the Incidence of Long QT Amongst a Large Cohort of Subjects Diagnosed With Unilateral or Bilateral Sensorineural Hearing Loss. |
| NCT02093806 | Not specified | UNKNOWN | Clinical Applications of Round Window Imaging Anatomy in Cochlear Implant Surgery |
| NCT02252601 | Not specified | UNKNOWN | Evaluation of the High Frequency Digit Triplet Test in Cystic Fibrosis |
| NCT02584361 | Not specified | UNKNOWN | Cochlear Implant and Vestibular Function. |
| NCT02638883 | Not specified | COMPLETED | Implantation of the Cochlear™ Nucleus® Hybrid S Round Window (S-RW) in Adults |
| NCT02689349 | Not specified | COMPLETED | Esteem New Subject Enrollment Post Approval Study |
| NCT02698787 | Not specified | COMPLETED | Fundamental Asynchronous Stimulus Timing Sound Coding Study |
| NCT02798783 | Not specified | COMPLETED | Enlarged Vestibular Aqueduct Registry |
Related Atlas pages
- Associated diseases: otofacial neurodevelopmental syndrome
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): otofacial neurodevelopmental syndrome, sensorineural hearing loss disorder