IGSF10
geneOn this page
Also known as FLJ25972CMF608
Summary
IGSF10 (immunoglobulin superfamily member 10, HGNC:26384) is a protein-coding gene on chromosome 3q25.1, encoding Immunoglobulin superfamily member 10 (Q6WRI0). Involved in the control of early migration of neurons expressing gonadotropin-releasing hormone (GNRH neurons).
Predicted to be involved in regulation of neuron migration. Predicted to act upstream of or within ossification. Located in extracellular region.
Source: NCBI Gene 285313 — RefSeq curated summary.
At a glance
- Gene–disease (curated): disorder of sexual differentiation (Moderate, GenCC)
- GWAS associations: 1
- Clinical variants (ClinVar): 724 total
- MANE Select transcript:
NM_178822
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:26384 |
| Approved symbol | IGSF10 |
| Name | immunoglobulin superfamily member 10 |
| Location | 3q25.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ25972, CMF608 |
| Ensembl gene | ENSG00000152580 |
| Ensembl biotype | protein_coding |
| OMIM | 617351 |
| Entrez | 285313 |
Gene structure
Transcript identifiers
Ensembl transcripts: 7 — 4 protein_coding, 3 protein_coding_CDS_not_defined
ENST00000282466, ENST00000489791, ENST00000493841, ENST00000495443, ENST00000497472, ENST00000857598, ENST00000934900
RefSeq mRNA: 7 — MANE Select: NM_178822
NM_001178145, NM_001178146, NM_001385060, NM_001385061, NM_001385062, NM_001385063, NM_178822
CCDS: CCDS3160
Canonical transcript exons
ENST00000282466 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001366871 | 151458516 | 151458710 |
| ENSE00001368502 | 151444919 | 151449265 |
| ENSE00001384465 | 151453384 | 151453774 |
| ENSE00001385290 | 151457026 | 151457155 |
| ENSE00001390390 | 151442984 | 151443884 |
| ENSE00001890176 | 151436203 | 151438597 |
| ENSE00003918128 | 151460946 | 151461061 |
| ENSE00003920807 | 151460261 | 151460347 |
Expression profiles
Bgee: expression breadth ubiquitous, 219 present calls, max score 96.13.
FANTOM5 (CAGE): breadth broad, TPM avg 1.8528 / max 202.3538, expressed in 444 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 45166 | 1.1175 | 275 |
| 45168 | 0.4843 | 184 |
| 45169 | 0.1762 | 50 |
| 45171 | 0.0287 | 9 |
| 45170 | 0.0235 | 10 |
| 45167 | 0.0103 | 5 |
| 45162 | 0.0078 | 4 |
| 45163 | 0.0045 | 3 |
Top tissues by expression
249 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cardiac muscle of right atrium | UBERON:0003379 | 96.13 | gold quality |
| left ovary | UBERON:0002119 | 93.87 | gold quality |
| kidney epithelium | UBERON:0004819 | 93.65 | gold quality |
| right ovary | UBERON:0002118 | 93.20 | gold quality |
| right lung | UBERON:0002167 | 92.50 | gold quality |
| upper arm skin | UBERON:0004263 | 92.42 | silver quality |
| skin of hip | UBERON:0001554 | 92.18 | gold quality |
| decidua | UBERON:0002450 | 91.33 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 91.29 | gold quality |
| lower lobe of lung | UBERON:0008949 | 90.42 | gold quality |
| ovary | UBERON:0000992 | 90.03 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 89.61 | gold quality |
| upper lobe of lung | UBERON:0008948 | 89.19 | gold quality |
| lung | UBERON:0002048 | 88.01 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 87.59 | gold quality |
| secondary oocyte | CL:0000655 | 87.51 | gold quality |
| gall bladder | UBERON:0002110 | 86.82 | gold quality |
| bronchial epithelial cell | CL:0002328 | 86.65 | gold quality |
| oocyte | CL:0000023 | 86.28 | gold quality |
| cardiac atrium | UBERON:0002081 | 85.75 | gold quality |
| bronchus | UBERON:0002185 | 85.70 | gold quality |
| mammary duct | UBERON:0001765 | 85.64 | gold quality |
| right uterine tube | UBERON:0001302 | 85.63 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 85.59 | gold quality |
| right atrium auricular region | UBERON:0006631 | 85.30 | gold quality |
| upper leg skin | UBERON:0004262 | 84.93 | gold quality |
| thoracic mammary gland | UBERON:0005200 | 84.65 | gold quality |
| myocardium | UBERON:0002349 | 84.59 | silver quality |
| sperm | CL:0000019 | 84.52 | gold quality |
| parotid gland | UBERON:0001831 | 84.34 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 7.33 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
78 targeting IGSF10, 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-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-1193 | 100.00 | 65.93 | 529 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-8068 | 99.98 | 73.85 | 2376 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-23A-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23B-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23C | 99.95 | 73.92 | 3192 |
| HSA-MIR-6772-5P | 99.94 | 67.01 | 577 |
| HSA-MIR-4778-3P | 99.93 | 70.40 | 1818 |
| HSA-MIR-106A-5P | 99.90 | 73.94 | 2683 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-4302 | 99.89 | 67.94 | 1187 |
| HSA-MIR-17-5P | 99.89 | 73.83 | 2665 |
| HSA-MIR-3140-3P | 99.88 | 68.47 | 2069 |
| HSA-MIR-106B-5P | 99.88 | 74.72 | 2795 |
| HSA-MIR-20A-5P | 99.88 | 74.76 | 2769 |
| HSA-MIR-20B-5P | 99.88 | 74.01 | 2621 |
| HSA-MIR-519D-3P | 99.88 | 73.97 | 2607 |
| HSA-MIR-526B-3P | 99.88 | 74.06 | 2587 |
| HSA-MIR-93-5P | 99.88 | 73.98 | 2606 |
| HSA-MIR-182-5P | 99.87 | 74.03 | 2589 |
| HSA-MIR-30A-3P | 99.87 | 69.74 | 2928 |
| HSA-MIR-30D-3P | 99.87 | 69.92 | 2917 |
Literature-anchored findings (GeneRIF, showing 3)
- These data strongly suggest that mutations in IGSF10 cause delayed puberty in humans, and points to a common genetic basis for conditions of functional hypogonadotropic hypogonadism (HH). (PMID:27137492)
- SEMA3A and IGSF10 Are Novel Contributors to Combined Pituitary Hormone Deficiency (CPHD). (PMID:32612575)
- IGSF10 inhibits the metastasis of lung adenocarcinoma via the Spi-B/Integrin-beta1 signaling pathway. (PMID:38622980)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | igsf10 | ENSDARG00000077497 |
| mus_musculus | Igsf10 | ENSMUSG00000036334 |
| rattus_norvegicus | Igsf10 | ENSRNOG00000013917 |
Paralogs (36): CNTN1 (ENSG00000018236), CDON (ENSG00000064309), NEO1 (ENSG00000067141), SDK2 (ENSG00000069188), IGSF9B (ENSG00000080854), IGSF9 (ENSG00000085552), NRCAM (ENSG00000091129), MXRA5 (ENSG00000101825), IGDCC4 (ENSG00000103742), CNTN3 (ENSG00000113805), IGSF21 (ENSG00000117154), CNTN6 (ENSG00000134115), CHL1 (ENSG00000134121), PTPRQ (ENSG00000139304), CNTN4 (ENSG00000144619), BOC (ENSG00000144857), SDK1 (ENSG00000146555), HMCN2 (ENSG00000148357), NCAM1 (ENSG00000149294), CNTN5 (ENSG00000149972), ROBO4 (ENSG00000154133), ROBO3 (ENSG00000154134), NCAM2 (ENSG00000154654), VCAM1 (ENSG00000162692), NFASC (ENSG00000163531), PRTG (ENSG00000166450), ROBO1 (ENSG00000169855), DSCAM (ENSG00000171587), IGDCC3 (ENSG00000174498), VSIG10 (ENSG00000176834), DSCAML1 (ENSG00000177103), CNTN2 (ENSG00000184144), ROBO2 (ENSG00000185008), VSIG10L (ENSG00000186806), DCC (ENSG00000187323), L1CAM (ENSG00000198910)
Protein
Protein identifiers
Immunoglobulin superfamily member 10 — Q6WRI0 (reviewed: Q6WRI0)
Alternative names: Calvaria mechanical force protein 608
All UniProt accessions (2): Q6WRI0, H7C4M2
UniProt curated annotations — full annotation on UniProt →
Function. Involved in the control of early migration of neurons expressing gonadotropin-releasing hormone (GNRH neurons). May be involved in the maintenance of osteochondroprogenitor cells pool.
Subcellular location. Secreted.
Disease relevance. Mutations in IGSF10 may be a cause of self-limited delayed puberty. This common condition is defined as the absence of testicular enlargement in boys or breast development in girls at an age that is 2-2.5 standard deviations later than the population mean. Self-limited delayed puberty segregates within families, with the majority of families displaying an autosomal dominant pattern of inheritance.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q6WRI0-1 | 1 | yes |
| Q6WRI0-2 | 2 | |
| Q6WRI0-3 | 3 |
RefSeq proteins (5): NP_001371989, NP_001371990, NP_001371991, NP_001371992, NP_849144* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000372 | LRRNT | Domain |
| IPR000483 | Cys-rich_flank_reg_C | Domain |
| IPR001611 | Leu-rich_rpt | Repeat |
| IPR003591 | Leu-rich_rpt_typical-subtyp | Repeat |
| IPR003598 | Ig_sub2 | Domain |
| IPR003599 | Ig_sub | Domain |
| IPR007110 | Ig-like_dom | Domain |
| IPR013098 | Ig_I-set | Domain |
| IPR013106 | Ig_V-set | Domain |
| IPR013783 | Ig-like_fold | Homologous_superfamily |
| IPR032675 | LRR_dom_sf | Homologous_superfamily |
| IPR036179 | Ig-like_dom_sf | Homologous_superfamily |
| IPR050467 | LRFN | Family |
Pfam: PF07679, PF13855, PF13927
UniProt features (66 total): domain 14, sequence variant 13, disulfide bond 12, glycosylation site 8, repeat 6, region of interest 4, splice variant 3, compositionally biased region 2, signal peptide 1, chain 1, modified residue 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6WRI0-F1 | 58.70 | 0.03 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (1): 2603
Disulfide bonds (12): 497–551, 595–645, 1670–1723, 1767–1820, 1864–1917, 1963–2016, 2060–2119, 2163–2213, 2261–2313, 2359–2411, 2454–2506, 2550–2605
Glycosylation sites (8): 319, 439, 627, 774, 999, 1899, 1962, 2101
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 96 (showing top):
GOBP_NEUROGENESIS, GOLDRATH_ANTIGEN_RESPONSE, CHIARADONNA_NEOPLASTIC_TRANSFORMATION_CDC25_UP, GOBP_REGULATION_OF_NEURON_MIGRATION, GOBP_NEURON_MIGRATION, GOBP_OSSIFICATION, FONTAINE_PAPILLARY_THYROID_CARCINOMA_DN, FONTAINE_THYROID_TUMOR_UNCERTAIN_MALIGNANCY_DN, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_WITH_LMP1_UP, HOFFMANN_LARGE_TO_SMALL_PRE_BII_LYMPHOCYTE_DN, chr3q25, MORI_SMALL_PRE_BII_LYMPHOCYTE_UP, KRIGE_RESPONSE_TO_TOSEDOSTAT_6HR_DN, WONG_ADULT_TISSUE_STEM_MODULE, KIM_GLIS2_TARGETS_UP
GO Biological Process (3): ossification (GO:0001503), cell differentiation (GO:0030154), regulation of neuron migration (GO:2001222)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (1): extracellular region (GO:0005576)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| multicellular organismal process | 1 |
| cellular developmental process | 1 |
| neuron migration | 1 |
| regulation of cell migration | 1 |
| binding | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
786 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| IGSF10 | CCDC141 | Q6ZP82 | 448 |
| IGSF10 | PROKR2 | Q8NFJ6 | 447 |
| IGSF10 | COL12A1 | Q99715 | 432 |
| IGSF10 | GNRH1 | P01148 | 417 |
| IGSF10 | HS6ST1 | O60243 | 400 |
| IGSF10 | ZNF605 | Q86T29 | 397 |
| IGSF10 | ZSCAN29 | Q8IWY8 | 380 |
| IGSF10 | NSMF | Q6X4W1 | 371 |
| IGSF10 | ANOS1 | P23352 | 370 |
| IGSF10 | IGSF6 | O95976 | 368 |
| IGSF10 | FNDC1 | Q4ZHG4 | 364 |
| IGSF10 | LRRIQ3 | A6PVS8 | 363 |
| IGSF10 | ARMCX4 | Q5H9R4 | 348 |
| IGSF10 | IGSF1 | Q8N6C5 | 326 |
| IGSF10 | GNRHR | P30968 | 324 |
IntAct
8 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| IGSF10 | HSPD1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| IGSF10 | IGSF11 | psi-mi:“MI:0915”(physical association) | 0.400 |
| IGSF10 | MAG | psi-mi:“MI:0915”(physical association) | 0.400 |
| IGSF10 | MILR1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| CD200R1L | IGSF10 | psi-mi:“MI:0915”(physical association) | 0.400 |
| SIRPD | IGSF10 | psi-mi:“MI:0915”(physical association) | 0.400 |
| SLAMF9 | IGSF10 | psi-mi:“MI:0915”(physical association) | 0.400 |
BioGRID (16): IGSF10 (Affinity Capture-MS), IGSF10 (Synthetic Lethality), IGSF10 (Affinity Capture-MS), IGSF10 (Proximity Label-MS), IGSF10 (Affinity Capture-MS), IGSF10 (Proximity Label-MS), NPM1 (Cross-Linking-MS (XL-MS)), RAN (Cross-Linking-MS (XL-MS)), RPL23A (Cross-Linking-MS (XL-MS)), STAU1 (Cross-Linking-MS (XL-MS)), VDAC1 (Cross-Linking-MS (XL-MS)), IGSF10 (Cross-Linking-MS (XL-MS)), IGSF10 (Cross-Linking-MS (XL-MS)), UNC13D (Cross-Linking-MS (XL-MS)), IGSF10 (Affinity Capture-RNA)
ESM2 similar proteins: A0A2R8Y4Y8, A0A2R8YFL7, A0A2R8YFM6, A0A8J1K1A4, A5D791, E7FKV8, O77726, O88393, P20239, P20783, P26342, P35054, P40200, P47984, Q03167, Q05996, Q08DT3, Q17R60, Q2Q0J1, Q3MHP9, Q3U0X8, Q3V1M1, Q4FZG8, Q4V7E2, Q5BK49, Q5SY80, Q5XI99, Q6DFV8, Q6WRH9, Q6WRI0, Q6X784, Q7TST5, Q80VH0, Q86WS3, Q8JIR8, Q8R1W8, Q925U0, Q95KG7, Q9D9J7, Q9ET62
Diamond homologs: A0N0X6, A2AJ76, A2CG49, A4IGL7, A4IIW9, B3NS99, B4GBH0, B4HNW4, B4KPU0, B4MR28, B4P5Q9, B4QC63, G5EBF1, O75325, O95428, P0C6S8, P11627, P12960, P22063, P28685, P32004, P97924, Q02246, Q07409, Q09024, Q12860, Q290N5, Q32Q07, Q3UQ28, Q3URE9, Q3V1M1, Q5R482, Q61330, Q61809, Q62682, Q62845, Q63198, Q66HV9, Q69Z26, Q6AWJ9
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
724 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 498 |
| Likely benign | 121 |
| Benign | 59 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1339 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:151430288:C:CA | acceptor_gain | 1.0000 |
| 3:151430292:A:AG | acceptor_gain | 1.0000 |
| 3:151430296:C:G | acceptor_gain | 1.0000 |
| 3:151430297:A:AG | acceptor_gain | 1.0000 |
| 3:151430297:A:G | acceptor_loss | 1.0000 |
| 3:151430298:G:GG | acceptor_gain | 1.0000 |
| 3:151430298:GT:G | acceptor_gain | 1.0000 |
| 3:151430298:GTT:G | acceptor_gain | 1.0000 |
| 3:151430298:GTTT:G | acceptor_gain | 1.0000 |
| 3:151430298:GTTTC:G | acceptor_gain | 1.0000 |
| 3:151430376:TTCCA:T | donor_gain | 1.0000 |
| 3:151430377:TCCAG:T | donor_loss | 1.0000 |
| 3:151430378:CCAG:C | donor_loss | 1.0000 |
| 3:151430379:CA:C | donor_gain | 1.0000 |
| 3:151430379:CAGTA:C | donor_loss | 1.0000 |
| 3:151430380:AGTAA:A | donor_loss | 1.0000 |
| 3:151430381:G:GG | donor_gain | 1.0000 |
| 3:151430382:TA:T | donor_loss | 1.0000 |
| 3:151430383:AA:A | donor_loss | 1.0000 |
| 3:151430384:AGTAC:A | donor_loss | 1.0000 |
| 3:151444914:CATA:C | donor_loss | 1.0000 |
| 3:151444915:ATACC:A | donor_loss | 1.0000 |
| 3:151444916:TACCT:T | donor_loss | 1.0000 |
| 3:151444917:A:T | donor_loss | 1.0000 |
| 3:151444918:C:CA | donor_loss | 1.0000 |
| 3:151430285:T:A | acceptor_gain | 0.9900 |
| 3:151430293:T:G | acceptor_gain | 0.9900 |
| 3:151430293:TTACA:T | acceptor_gain | 0.9900 |
| 3:151430294:TACA:T | acceptor_gain | 0.9900 |
| 3:151430295:A:AG | acceptor_gain | 0.9900 |
AlphaMissense
17228 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:151437165:A:G | W2466R | 0.997 |
| 3:151437165:A:T | W2466R | 0.997 |
| 3:151443612:A:G | W1779R | 0.997 |
| 3:151443612:A:T | W1779R | 0.997 |
| 3:151453760:G:C | S113R | 0.997 |
| 3:151453760:G:T | S113R | 0.997 |
| 3:151453762:T:G | S113R | 0.997 |
| 3:151437163:C:A | W2466C | 0.996 |
| 3:151437163:C:G | W2466C | 0.996 |
| 3:151437744:A:G | W2273R | 0.996 |
| 3:151437744:A:T | W2273R | 0.996 |
| 3:151443198:A:G | C1917R | 0.996 |
| 3:151437336:A:C | Y2409D | 0.995 |
| 3:151437450:A:G | W2371R | 0.995 |
| 3:151437450:A:T | W2371R | 0.995 |
| 3:151437486:A:G | C2359R | 0.995 |
| 3:151437545:A:C | F2339C | 0.995 |
| 3:151438347:A:G | W2072R | 0.995 |
| 3:151438347:A:T | W2072R | 0.995 |
| 3:151457087:A:G | L88P | 0.995 |
| 3:151458583:A:G | C43R | 0.995 |
| 3:151437323:G:T | A2413D | 0.994 |
| 3:151437545:A:G | F2339S | 0.994 |
| 3:151443022:C:A | W1975C | 0.994 |
| 3:151443022:C:G | W1975C | 0.994 |
| 3:151443184:A:C | S1921R | 0.994 |
| 3:151443184:A:T | S1921R | 0.994 |
| 3:151443186:T:G | S1921R | 0.994 |
| 3:151443196:G:C | C1917W | 0.994 |
| 3:151443197:C:G | C1917S | 0.994 |
dbSNP variants (sampled 300 via entrez): RS1000029000 (3:151456794 AT>A,ATT), RS1000040776 (3:151614456 T>C), RS1000064356 (3:151523918 G>C), RS1000076116 (3:151606744 A>G), RS1000077075 (3:151491031 A>T), RS1000093733 (3:151607727 C>A,T), RS1000098579 (3:151450573 G>A,T), RS1000128313 (3:151607225 A>C), RS1000146265 (3:151607461 A>G), RS1000191615 (3:151580180 C>A,T), RS1000199792 (3:151581504 G>A), RS1000212417 (3:151501176 G>C,T), RS1000213160 (3:151545291 G>A), RS1000218359 (3:151539910 G>C), RS1000233029 (3:151462854 A>G)
Disease associations
OMIM: gene MIM:617351 | disease phenotypes: MIM:212720
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| disorder of sexual differentiation | Moderate | Autosomal dominant |
Mondo (3): Martsolf syndrome 1 (MONDO:8000008), primary ovarian failure (MONDO:0005387), disorder of sexual differentiation (MONDO:0002145)
Orphanet (2): Cataract-intellectual disability-hypogonadism syndrome (Orphanet:1387), NON RARE IN EUROPE: Primary ovarian failure (Orphanet:619)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST010002_443 | Refractive error | 1.000000e-10 |
MeSH disease descriptors (3)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D012734 | Disorders of Sex Development | C12.050.351.875.253; C12.200.706.316; C12.800.316; C16.131.939.316; C19.391.119 |
| D016649 | Primary Ovarian Insufficiency | C12.050.351.500.056.630.750; C12.100.250.056.630.750; C19.391.630.750 |
| C536028 | Martsolf syndrome (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
23 total (human), top 23 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression | 4 |
| Benzo(a)pyrene | decreases expression, increases methylation | 3 |
| S-(1,2-dichlorovinyl)cysteine | decreases expression | 2 |
| bisphenol A | affects cotreatment, increases expression | 1 |
| 2,5,2’,5’-tetrachlorobiphenyl | increases expression | 1 |
| trichostatin A | increases expression | 1 |
| mono-(2-ethylhexyl)phthalate | increases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| ferrous chloride | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| N-Nitrosopyrrolidine | increases expression | 1 |
| Nickel | decreases expression | 1 |
| Rotenone | increases expression | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| 1-Methyl-3-isobutylxanthine | affects cotreatment, increases expression | 1 |
| Cyclosporine | decreases expression | 1 |
| Okadaic Acid | increases expression | 1 |
Clinical trials (associated diseases)
87 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00417066 | PHASE4 | COMPLETED | Flexible GnRH Antagonist vs Flare up GnRH Agonist Protocol in Poor Responders |
| NCT00732693 | PHASE4 | COMPLETED | Evaluation of Physiologic and Standard Sex Steroid Replacement Regimens in Women With Premature Ovarian Failure |
| NCT00837616 | PHASE4 | COMPLETED | Estrogen Dosing in Turner Syndrome: Pharmacology and Metabolism |
| NCT01853501 | PHASE4 | UNKNOWN | Effects of ADSC Therapy in Women With POF |
| NCT02783937 | PHASE4 | COMPLETED | Filgrastim for Premature Ovarian Insufficiency |
| NCT03535480 | PHASE4 | UNKNOWN | Autologous Bone Marrow Stem Cell Ovarian Transplantation to Restore Ovarian Function in Premature Ovarian Failure |
| NCT00140998 | PHASE3 | COMPLETED | Estrogen Treatment (Oral vs. Patches) in Turner Syndrome |
| NCT00001951 | PHASE2 | COMPLETED | Hormone Replacement in Young Women With Premature Ovarian Failure |
| NCT00370019 | PHASE2 | WITHDRAWN | Effects of an Estrogen Replacement Therapy Skin Patch on Ovulation in Women With Premature Ovarian Failure |
| NCT00429494 | PHASE2 | COMPLETED | GnRH Analogue for Ovarian Function Preservation in Hematopoietic Stem Cell Transplantation Patients |
| NCT03816852 | PHASE2 | SUSPENDED | The Safety and Efficiency Study of Mesenchymal Stem Cell (19#iSCLife®-POI) in Premature Ovarian Insufficiency |
| NCT04536467 | PHASE2 | UNKNOWN | Prevention of Chemotherapy-Induced Ovarian Failure With Goserelin in Premenopausal Lymphoma Patients |
| NCT06117982 | PHASE2 | COMPLETED | The Impact of Granulocyte Colony Stimulating Factor on Premature Ovarian Insufficiency |
| NCT03718234 | PHASE1 | COMPLETED | Subcutaneous Hydrocortisone Children With Congenital Adrenal Hyperplasia |
| NCT02912104 | PHASE1 | COMPLETED | A Therapeutic Trial of Human Amniotic Epithelial Cells Transplantation for Primary Ovarian Failure |
| NCT03178695 | PHASE1 | COMPLETED | Inovium Ovarian Rejuvenation Trials |
| NCT04815213 | PHASE1 | ACTIVE_NOT_RECRUITING | The Use of Expandeded Mesenchymal Stromal Cells (MSC) in Premature Ovarian Failure (POF) in Adult Humans |
| NCT05138367 | PHASE1 | COMPLETED | Effects of UCA-PSCs in Women With POF |
| NCT06132542 | PHASE1 | UNKNOWN | Autologous ADMSC Transplantation in Patients With POI |
| NCT00485186 | Not specified | WITHDRAWN | Gene Polymorphisms Influencing Steroid Synthesis and Action |
| NCT01875640 | Not specified | COMPLETED | Decision Support for Parents Receiving Information About Child’s Rare Disease |
| NCT02784184 | Not specified | UNKNOWN | COPENHAGEN Minipuberty Study |
| NCT03102554 | Not specified | ENROLLING_BY_INVITATION | Genetics of Differences of Sex Development and Hypospadias |
| NCT03283852 | Not specified | RECRUITING | Identifying New Genetic Causes to Development Disorders |
| NCT04195490 | Not specified | UNKNOWN | Evaluation of Outcomes of Feminizing Genitoplasty in Children With Disorders of Sex Development |
| NCT04463316 | Not specified | RECRUITING | GROWing Up With Rare GENEtic Syndromes |
| NCT04717349 | Not specified | RECRUITING | Data Collection Study of Pediatric and Adolescent Gynecology Conditions |
| NCT05058781 | Not specified | RECRUITING | Minipuberty in Infants Born With Potential Hypogonadism Hypogonadotrope |
| NCT06692049 | Not specified | RECRUITING | Gonadal Tissue Cryopreservation for Fertility Preservation in Children with a Disorder of Sex Development |
| NCT06989593 | Not specified | RECRUITING | Breaking Silence Through Story: A Narrative Medicine Intervention for Parents of Children With Urogenital Conditions |
| NCT00948857 | PHASE2/PHASE3 | TERMINATED | Dehydroepiandrosterone (DHEA) Treatment and Premature Ovarian Failure (POF) |
| NCT04031456 | PHASE2/PHASE3 | RECRUITING | Autologous PRP Infusion May Restore Ovarian Function and May Promote Folliculogenesis in POI Patients |
| NCT02043743 | PHASE1/PHASE2 | UNKNOWN | Autologous Stem Cells Transplantation in Patients With Idiopathic and Drug Induced Premature Ovarian Failure |
| NCT02062931 | PHASE1/PHASE2 | UNKNOWN | Autologous Mesenchymal Stem Cells Transplantation In Women With Premature Ovarian Failure |
| NCT02151890 | PHASE1/PHASE2 | COMPLETED | Pregnancy After Stem Cell Transplantation in Premature Ovarian Failure |
| NCT02372474 | PHASE1/PHASE2 | COMPLETED | It is a Real The First Baby Of Autologous Stem Cell Therapy in Premature Ovarian Failure |
| NCT02603744 | PHASE1/PHASE2 | UNKNOWN | Autologous Adipose Derived Mesenchymal Stromal Cells Transplantation in Women With Premature Ovarian Failure (POF) |
| NCT02644447 | PHASE1/PHASE2 | COMPLETED | Transplantation of HUC-MSCs With Injectable Collagen Scaffold for POF |
| NCT03069209 | PHASE1/PHASE2 | UNKNOWN | Autologous Bone Marrow-Derived Stem Cell Transplantation in Patients With Premature Ovarian Failure (POF) |
| NCT03985462 | PHASE1/PHASE2 | WITHDRAWN | Very Small Embryonic-like Stem Cells for Ovary |
Related Atlas pages
- Associated diseases: disorder of sexual differentiation
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): disorder of sexual differentiation, Martsolf syndrome 1