LHX8
gene geneOn this page
Also known as Lhx7
Summary
LHX8 (LIM homeobox 8, HGNC:28838) is a protein-coding gene on chromosome 1p31.1, encoding LIM/homeobox protein Lhx8 (Q68G74). Transcription factor involved in differentiation of certain neurons and mesenchymal cells.
The protein encoded by this gene is a member of the LIM homeobox family of proteins, which are involved in patterning and differentiation of various tissue types. These proteins contain two tandemly repeated cysteine-rich double-zinc finger motifs known as LIM domains, in addition to a DNA-binding homeodomain. This family member is a transcription factor that plays a role in tooth morphogenesis. It is also involved in oogenesis and in neuronal differentiation. This gene is a candidate gene for cleft palate, and it is also associated with odontoma formation. Alternative splicing of this gene results in multiple transcript variants.
Source: NCBI Gene 431707 — RefSeq curated summary.
At a glance
- Gene–disease (curated): inherited primary ovarian failure (Limited, GenCC)
- Clinical variants (ClinVar): 53 total
- Transcription factor: yes — 12 downstream targets (CollecTRI)
- MANE Select transcript:
NM_001256114
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:28838 |
| Approved symbol | LHX8 |
| Name | LIM homeobox 8 |
| Location | 1p31.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | Lhx7 |
| Ensembl gene | ENSG00000162624 |
| Ensembl biotype | protein_coding |
| OMIM | 604425 |
| Entrez | 431707 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 5 protein_coding, 1 retained_intron
ENST00000294638, ENST00000356261, ENST00000607240, ENST00000696555, ENST00000929120, ENST00000929121
RefSeq mRNA: 2 — MANE Select: NM_001256114
NM_001001933, NM_001256114
CCDS: CCDS30756, CCDS58008
Canonical transcript exons
ENST00000356261 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001374729 | 75160819 | 75161533 |
| ENSE00001604017 | 75148587 | 75148682 |
| ENSE00001613974 | 75143845 | 75143948 |
| ENSE00001741372 | 75156893 | 75157076 |
| ENSE00001756505 | 75143118 | 75143338 |
| ENSE00003468636 | 75136603 | 75136689 |
| ENSE00003601674 | 75137100 | 75137261 |
| ENSE00003623327 | 75140985 | 75141106 |
| ENSE00003967689 | 75134388 | 75134954 |
Expression profiles
Bgee: expression breadth broad, 66 present calls, max score 96.56.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.3290 / max 39.3260, expressed in 98 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 3527 | 0.1634 | 60 |
| 3526 | 0.0507 | 22 |
| 3529 | 0.0350 | 18 |
| 3530 | 0.0309 | 11 |
| 3531 | 0.0286 | 17 |
| 3528 | 0.0204 | 8 |
Top tissues by expression
228 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 96.56 | gold quality |
| oocyte | CL:0000023 | 95.06 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 81.75 | gold quality |
| buccal mucosa cell | CL:0002336 | 79.86 | gold quality |
| oral cavity | UBERON:0000167 | 72.60 | gold quality |
| minor salivary gland | UBERON:0001830 | 71.49 | gold quality |
| mouth mucosa | UBERON:0003729 | 69.70 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 65.99 | gold quality |
| caudate nucleus | UBERON:0001873 | 61.59 | gold quality |
| putamen | UBERON:0001874 | 60.78 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 58.29 | gold quality |
| lower lobe of lung | UBERON:0008949 | 57.60 | silver quality |
| gall bladder | UBERON:0002110 | 56.70 | gold quality |
| nucleus accumbens | UBERON:0001882 | 56.51 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 54.14 | gold quality |
| tonsil | UBERON:0002372 | 53.54 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 53.45 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 51.84 | gold quality |
| gingiva | UBERON:0001828 | 49.35 | silver quality |
| urinary bladder | UBERON:0001255 | 49.24 | gold quality |
| globus pallidus | UBERON:0001875 | 46.33 | silver quality |
| mucosa of paranasal sinus | UBERON:0005030 | 45.23 | silver quality |
| esophagus mucosa | UBERON:0002469 | 45.20 | gold quality |
| medial globus pallidus | UBERON:0002477 | 44.85 | silver quality |
| middle temporal gyrus | UBERON:0002771 | 44.77 | gold quality |
| testis | UBERON:0000473 | 44.34 | gold quality |
| penis | UBERON:0000989 | 43.84 | silver quality |
| left lobe of thyroid gland | UBERON:0001120 | 43.79 | gold quality |
| thyroid gland | UBERON:0002046 | 43.61 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 43.37 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-93593 | yes | 1411.28 |
| E-MTAB-8894 | yes | 491.19 |
| E-ANND-3 | no | 2.91 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
12 targets.
| Target | Regulation |
|---|---|
| AKT1 | |
| BDNF | |
| BMP4 | Activation |
| BRAF | |
| DUSP1 | |
| GSC | Activation |
| IL2RA | |
| LHX6 | Activation |
| MSX1 | Activation |
| MSX2 | Activation |
| PKLR | |
| SCNN1A |
Upstream regulators (CollecTRI, top): CREB1, JUN, JUNB, JUND, SOHLH1
miRNA regulators (miRDB)
120 targeting LHX8, 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-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-513B-5P | 99.99 | 69.96 | 2150 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-LET-7F-2-3P | 99.98 | 70.98 | 2588 |
| HSA-MIR-1185-1-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-1185-2-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-507 | 99.97 | 70.11 | 1915 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-302E | 99.96 | 70.74 | 2669 |
| HSA-MIR-557 | 99.96 | 70.01 | 1640 |
Literature-anchored findings (GeneRIF, showing 10)
- Sohlh1 and Lhx8 are two germ cell-specific, critical regulators of oogenesis (PMID:16690745)
- Mutations in the LHX8 exons are uncommon in Caucasian women with premature ovarian failure. (PMID:17624344)
- LHX8 might play an important role in odontoma formation. This is 1st report on comparison of LHX8 expression between human odontoma-derived mesenchymal cells and normal adult dental mesenchymal stem cells and its overexpression in human samples. (PMID:21143530)
- Our tagging-single nucleotide polymorphism (tSNP)-based association analysis was negative for Tourette syndrome association with LHX8. (PMID:22435649)
- Increasing Lhx8 expression in neuronal cell lines also increased acetylcholine release. (PMID:24316404)
- Posttreatment monitoring by ASCL1/LHX8 methylation analysis in women with HIV treated for cervical intraepithelial neoplasia grade 2/3. (PMID:35152224)
- Heterozygous loss-of-function variants in LHX8 cause female infertility characterized by oocyte maturation arrest. (PMID:36029299)
- Validation of ASCL1 and LHX8 Methylation Analysis as Primary Cervical Cancer Screening Strategy in South African Women with Human Immunodeficiency Virus. (PMID:36366827)
- Single-cell profiling of lncRNAs in human germ cells and molecular analysis reveals transcriptional regulation of LNC1845 on LHX8. (PMID:36602025)
- LIM homeobox 8 reduced apoptosis and promoted periodontal tissue regeneration function of dental pulp stem cells. (PMID:38703583)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | lhx8a | ENSDARG00000002330 |
| danio_rerio | lhx8b | ENSDARG00000042145 |
| mus_musculus | Lhx8 | ENSMUSG00000096225 |
| rattus_norvegicus | Lhx8 | ENSRNOG00000028348 |
Paralogs (20): FHL1 (ENSG00000022267), LMO3 (ENSG00000048540), LHX5 (ENSG00000089116), ZFHX4 (ENSG00000091656), LHX2 (ENSG00000106689), LHX6 (ENSG00000106852), LHX3 (ENSG00000107187), LHX4 (ENSG00000121454), LMO2 (ENSG00000135363), ZFHX2 (ENSG00000136367), LMX1B (ENSG00000136944), ZFHX3 (ENSG00000140836), LMO4 (ENSG00000143013), LHX9 (ENSG00000143355), CRIP3 (ENSG00000146215), LMX1A (ENSG00000162761), LMO1 (ENSG00000166407), CRIP2 (ENSG00000182809), CRIP1 (ENSG00000213145), LHX1 (ENSG00000273706)
Protein
Protein identifiers
LIM/homeobox protein Lhx8 — Q68G74 (reviewed: Q68G74)
All UniProt accessions (2): Q68G74, A0A8Q3WLD2
UniProt curated annotations — full annotation on UniProt →
Function. Transcription factor involved in differentiation of certain neurons and mesenchymal cells.
Subcellular location. Nucleus.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q68G74-1 | 1 | yes |
| Q68G74-2 | 2 |
RefSeq proteins (2): NP_001001933, NP_001243043* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001356 | HD | Domain |
| IPR001781 | Znf_LIM | Domain |
| IPR009057 | Homeodomain-like_sf | Homologous_superfamily |
| IPR017970 | Homeobox_CS | Conserved_site |
| IPR050453 | LIM_Homeobox_TF | Family |
Pfam: PF00046, PF00412
UniProt features (8 total): domain 2, chain 1, DNA-binding region 1, region of interest 1, compositionally biased region 1, splice variant 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q68G74-F1 | 69.46 | 0.38 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 110 (showing top):
GOBP_FOREBRAIN_NEURON_DEVELOPMENT, GOBP_RESPONSE_TO_ETHANOL, BENPORATH_ES_WITH_H3K27ME3, GOBP_NEUROGENESIS, TACAATC_MIR508, GOBP_FOREBRAIN_DEVELOPMENT, GOBP_FOREBRAIN_GENERATION_OF_NEURONS, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM1, GOBP_CENTRAL_NERVOUS_SYSTEM_NEURON_DIFFERENTIATION, GOBP_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_HEAD_DEVELOPMENT, TGTTTAC_MIR30A5P_MIR30C_MIR30D_MIR30B_MIR30E5P, ACTTTAT_MIR1425P, GOBP_CENTRAL_NERVOUS_SYSTEM_NEURON_DEVELOPMENT, GOBP_RESPONSE_TO_ALCOHOL
GO Biological Process (5): regulation of transcription by RNA polymerase II (GO:0006357), forebrain neuron development (GO:0021884), neuron differentiation (GO:0030182), response to ethanol (GO:0045471), regulation of DNA-templated transcription (GO:0006355)
GO Molecular Function (7): RNA polymerase II transcription regulatory region sequence-specific DNA binding (GO:0000977), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), metal ion binding (GO:0046872), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677), protein binding (GO:0005515), sequence-specific DNA binding (GO:0043565)
GO Cellular Component (2): chromatin (GO:0000785), nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| regulation of DNA-templated transcription | 1 |
| transcription by RNA polymerase II | 1 |
| forebrain neuron differentiation | 1 |
| central nervous system neuron development | 1 |
| cell differentiation | 1 |
| generation of neurons | 1 |
| response to alcohol | 1 |
| DNA-templated transcription | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| transcription cis-regulatory region binding | 1 |
| chromatin | 1 |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 1 |
| DNA-binding transcription factor activity | 1 |
| regulation of transcription by RNA polymerase II | 1 |
| cation binding | 1 |
| double-stranded DNA binding | 1 |
| sequence-specific DNA binding | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| DNA binding | 1 |
| chromosome | 1 |
| cellular anatomical structure | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
1530 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| LHX8 | SOHLH1 | Q5JUK2 | 962 |
| LHX8 | NOBOX | O60393 | 928 |
| LHX8 | FIGLA | Q6QHK4 | 918 |
| LHX8 | GBX1 | Q14549 | 897 |
| LHX8 | MSX1 | P28360 | 848 |
| LHX8 | YBX2 | Q9Y2T7 | 845 |
| LHX8 | PAX9 | P55771 | 795 |
| LHX8 | SATB2 | Q9UPW6 | 686 |
| LHX8 | SOHLH2 | Q9NX45 | 682 |
| LHX8 | DLX2 | Q07687 | 679 |
| LHX8 | ZIC1 | Q15915 | 671 |
| LHX8 | HOXC9 | P31274 | 664 |
| LHX8 | HOXA2 | O43364 | 647 |
| LHX8 | NKX2-1 | P43699 | 647 |
| LHX8 | TMEM26 | Q6ZUK4 | 629 |
IntAct
152 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| LHX8 | FIGLA | psi-mi:“MI:0915”(physical association) | 0.700 |
| PYGO1 | BCL9 | psi-mi:“MI:0914”(association) | 0.700 |
| LDB1 | LHX8 | psi-mi:“MI:0915”(physical association) | 0.690 |
| LHX8 | LDB1 | psi-mi:“MI:0915”(physical association) | 0.690 |
| LHX8 | LDB1 | psi-mi:“MI:0914”(association) | 0.690 |
| KLF3 | LHX8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LHX8 | NUTM1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LHX8 | SCYL3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LHX8 | KLF3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NUTM1 | LHX8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| AXIN1 | LHX8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| EFS | LHX8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LHX8 | LDB1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZBTB24 | LHX8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LDB2 | LHX8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LHX8 | ATF6B | psi-mi:“MI:0915”(physical association) | 0.560 |
| FOXN1 | LHX8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CSNK2A1 | LHX8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LHX8 | TBC1D1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LHX8 | GINS4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NEDD9 | LHX8 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (59): LHX8 (Two-hybrid), LHX8 (Two-hybrid), LHX8 (Two-hybrid), LHX8 (Two-hybrid), LHX8 (Affinity Capture-MS), LHX8 (Two-hybrid), LHX8 (Two-hybrid), LHX8 (Affinity Capture-MS), LHX8 (Two-hybrid), LHX8 (Two-hybrid), LHX8 (Two-hybrid), LHX8 (Two-hybrid), LHX8 (Two-hybrid), LHX8 (Two-hybrid), LHX8 (Two-hybrid)
ESM2 similar proteins: A0A8I6G705, A6QNT8, B5DFF2, D4A055, O00305, O14639, O16011, O19048, O95319, O95486, P56223, P60335, P60762, Q08DJ0, Q12800, Q13330, Q15365, Q15853, Q16514, Q3T174, Q4V860, Q5E9A3, Q5R8Y8, Q62599, Q63665, Q64705, Q68G74, Q6DH13, Q6NZH6, Q6P0B1, Q6ZRY4, Q792H5, Q7T2T1, Q7T2U9, Q86SE5, Q8K4B0, Q8K4G5, Q8K4Q0, Q8N122, Q8R0S4
Diamond homologs: A0JNI8, A2I8Z7, A2PZF9, G5EC36, G5EE86, O14639, O35652, O60663, O88609, O94929, O97581, P20154, P25791, P25800, P25801, P29673, P29674, P34764, P34765, P36198, P36200, P37137, P48742, P50211, P50212, P50458, P50480, P50481, P52889, P53405, P53406, P53407, P53408, P53409, P53410, P53411, P53412, P53413, P53667, P53668
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| SOHLH1 | “up-regulates quantity by expression” | LHX8 | “transcriptional regulation” |
Disease & clinical
Clinical variants and AI predictions
ClinVar
53 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 44 |
| Likely benign | 6 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1950 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:75140980:CACAG:C | acceptor_loss | 1.0000 |
| 1:75140983:A:AG | acceptor_gain | 1.0000 |
| 1:75140984:G:GA | acceptor_loss | 1.0000 |
| 1:75140984:G:GG | acceptor_gain | 1.0000 |
| 1:75140984:GGT:G | acceptor_gain | 1.0000 |
| 1:75141104:CAGGT:C | donor_loss | 1.0000 |
| 1:75141105:AGGT:A | donor_loss | 1.0000 |
| 1:75141106:GGTA:G | donor_loss | 1.0000 |
| 1:75141107:G:GA | donor_loss | 1.0000 |
| 1:75141108:T:G | donor_loss | 1.0000 |
| 1:75143326:G:GT | donor_gain | 1.0000 |
| 1:75143843:AG:A | acceptor_gain | 1.0000 |
| 1:75143843:AGG:A | acceptor_gain | 1.0000 |
| 1:75143844:GG:G | acceptor_gain | 1.0000 |
| 1:75143844:GGG:G | acceptor_gain | 1.0000 |
| 1:75143844:GGGA:G | acceptor_gain | 1.0000 |
| 1:75143844:GGGAA:G | acceptor_gain | 1.0000 |
| 1:75143947:AGGT:A | donor_loss | 1.0000 |
| 1:75143949:G:GG | donor_gain | 1.0000 |
| 1:75143950:T:G | donor_loss | 1.0000 |
| 1:75157072:GGATG:G | donor_gain | 1.0000 |
| 1:75157073:GATG:G | donor_gain | 1.0000 |
| 1:75157073:GATGG:G | donor_gain | 1.0000 |
| 1:75157075:TGG:T | donor_loss | 1.0000 |
| 1:75157076:GGTA:G | donor_loss | 1.0000 |
| 1:75157077:G:GG | donor_gain | 1.0000 |
| 1:75157077:GTA:G | donor_loss | 1.0000 |
| 1:75157078:T:A | donor_loss | 1.0000 |
| 1:75140981:A:AG | acceptor_gain | 0.9900 |
| 1:75140983:AG:A | acceptor_gain | 0.9900 |
AlphaMissense
2255 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:75137227:G:A | C78Y | 1.000 |
| 1:75137254:T:C | L87P | 1.000 |
| 1:75137257:T:C | L88P | 1.000 |
| 1:75141000:T:A | W95R | 1.000 |
| 1:75141000:T:C | W95R | 1.000 |
| 1:75141005:T:A | H96Q | 1.000 |
| 1:75141005:T:G | H96Q | 1.000 |
| 1:75141012:T:A | C99S | 1.000 |
| 1:75141012:T:C | C99R | 1.000 |
| 1:75141013:G:C | C99S | 1.000 |
| 1:75141014:T:G | C99W | 1.000 |
| 1:75141016:T:A | L100H | 1.000 |
| 1:75141016:T:C | L100P | 1.000 |
| 1:75141021:T:A | C102S | 1.000 |
| 1:75141021:T:C | C102R | 1.000 |
| 1:75141022:G:A | C102Y | 1.000 |
| 1:75141022:G:C | C102S | 1.000 |
| 1:75141022:G:T | C102F | 1.000 |
| 1:75141023:C:G | C102W | 1.000 |
| 1:75141030:T:A | C105S | 1.000 |
| 1:75141030:T:C | C105R | 1.000 |
| 1:75141031:G:A | C105Y | 1.000 |
| 1:75141031:G:C | C105S | 1.000 |
| 1:75141031:G:T | C105F | 1.000 |
| 1:75141032:C:G | C105W | 1.000 |
| 1:75141060:T:C | C115R | 1.000 |
| 1:75141061:G:A | C115Y | 1.000 |
| 1:75141062:T:G | C115W | 1.000 |
| 1:75141063:T:G | Y116D | 1.000 |
| 1:75141087:T:A | C124S | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000027947 (1:75145546 A>C,T), RS1000178763 (1:75138678 A>G), RS1000191102 (1:75129771 G>T), RS1000193912 (1:75182625 G>A,T), RS1000251056 (1:75138345 T>C), RS1000340813 (1:75146957 TCAA>T), RS1000372764 (1:75158481 G>A), RS1000373437 (1:75147194 G>A), RS1000381539 (1:75177581 C>A,T), RS1000428104 (1:75132657 C>G), RS1000440639 (1:75193863 T>G), RS1000443065 (1:75145133 G>A), RS1000475003 (1:75177410 C>T), RS1000506609 (1:75154098 T>C), RS1000558234 (1:75195024 A>C,G)
Disease associations
OMIM: gene MIM:604425 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| inherited primary ovarian failure | Limited | Autosomal dominant |
Mondo (1): inherited primary ovarian failure (MONDO:0019852)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
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
29 total (human), top 29 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression | 5 |
| trichostatin A | increases expression, affects cotreatment | 3 |
| entinostat | increases expression, affects cotreatment | 2 |
| belinostat | increases expression, affects cotreatment | 2 |
| Panobinostat | affects cotreatment, increases expression | 2 |
| Arsenic | affects methylation, increases methylation | 2 |
| Cyclosporine | increases expression, decreases methylation | 2 |
| p-Chloromercuribenzoic Acid | affects cotreatment, increases expression | 2 |
| propionaldehyde | decreases expression | 1 |
| arsenite | increases methylation | 1 |
| butyraldehyde | decreases expression | 1 |
| mercuric bromide | affects cotreatment, increases expression | 1 |
| pentanal | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Air Pollutants | decreases expression | 1 |
| Aldehydes | decreases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Cisplatin | affects cotreatment, decreases expression | 1 |
| Tretinoin | increases expression | 1 |
| Triclosan | decreases expression | 1 |
| Aflatoxin B1 | affects expression | 1 |
| Asbestos, Serpentine | decreases methylation | 1 |
| Asbestos, Crocidolite | decreases methylation | 1 |
| Asbestos, Amosite | decreases methylation | 1 |
| Okadaic Acid | decreases 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_A3W5 | SEES3-1V human LHX8, clone1 | Embryonic stem cell | Male |
| CVCL_A3W6 | SEES3-1V human LHX8, clone2 | Embryonic stem cell | Male |
| CVCL_A3W7 | SEES3-1V human LHX8, clone3 | Embryonic stem cell | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Associated diseases: inherited primary ovarian failure
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): inherited primary ovarian failure