GRAMD1C
gene geneOn this page
Also known as LAMcDKFZp434C0328
Summary
GRAMD1C (GRAM domain containing 1C, HGNC:25252) is a protein-coding gene on chromosome 3q13.31, encoding Protein Aster-C (Q8IYS0). Cholesterol transporter that mediates non-vesicular transport of cholesterol from the plasma membrane (PM) to the endoplasmic reticulum (ER).
Predicted to enable cholesterol binding activity and cholesterol transfer activity. Predicted to be involved in cellular response to cholesterol and intracellular sterol transport. Predicted to be located in endoplasmic reticulum; membrane; and organelle membrane contact site. Predicted to be active in endoplasmic reticulum membrane; endoplasmic reticulum-plasma membrane contact site; and plasma membrane.
Source: NCBI Gene 54762 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 99 total
- Druggable target: yes
- MANE Select transcript:
NM_017577
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25252 |
| Approved symbol | GRAMD1C |
| Name | GRAM domain containing 1C |
| Location | 3q13.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | LAMc, DKFZp434C0328 |
| Ensembl gene | ENSG00000178075 |
| Ensembl biotype | protein_coding |
| OMIM | 620180 |
| Entrez | 54762 |
Gene structure
Transcript identifiers
Ensembl transcripts: 20 — 10 protein_coding, 4 protein_coding_CDS_not_defined, 4 retained_intron, 2 nonsense_mediated_decay
ENST00000358160, ENST00000440446, ENST00000462838, ENST00000463760, ENST00000466898, ENST00000467895, ENST00000471031, ENST00000472026, ENST00000472384, ENST00000479212, ENST00000484714, ENST00000486457, ENST00000488680, ENST00000491038, ENST00000498183, ENST00000870487, ENST00000870488, ENST00000870489, ENST00000870490, ENST00000870491
RefSeq mRNA: 2 — MANE Select: NM_017577
NM_001172105, NM_017577
CCDS: CCDS33826, CCDS54625
Canonical transcript exons
ENST00000358160 — 18 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001914796 | 113838788 | 113838936 |
| ENSE00003469879 | 113933511 | 113933653 |
| ENSE00003476254 | 113934432 | 113934535 |
| ENSE00003477240 | 113915701 | 113915838 |
| ENSE00003492677 | 113908958 | 113909120 |
| ENSE00003517077 | 113882752 | 113882832 |
| ENSE00003531006 | 113904140 | 113904272 |
| ENSE00003553225 | 113940240 | 113940345 |
| ENSE00003566636 | 113901031 | 113901146 |
| ENSE00003580544 | 113938086 | 113938143 |
| ENSE00003600375 | 113876165 | 113876260 |
| ENSE00003604806 | 113936266 | 113936442 |
| ENSE00003622316 | 113844503 | 113844649 |
| ENSE00003635294 | 113945398 | 113947174 |
| ENSE00003636864 | 113939886 | 113939996 |
| ENSE00003639510 | 113875484 | 113875587 |
| ENSE00003664573 | 113930714 | 113930832 |
| ENSE00003688970 | 113869507 | 113869591 |
Expression profiles
Bgee: expression breadth ubiquitous, 256 present calls, max score 94.99.
FANTOM5 (CAGE): breadth broad, TPM avg 2.8074 / max 108.9174, expressed in 847 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 37978 | 1.0362 | 492 |
| 37977 | 0.8084 | 260 |
| 37982 | 0.5708 | 141 |
| 37976 | 0.3631 | 149 |
| 37983 | 0.0213 | 6 |
| 37981 | 0.0076 | 3 |
Top tissues by expression
284 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| jejunal mucosa | UBERON:0000399 | 94.99 | gold quality |
| bronchial epithelial cell | CL:0002328 | 92.78 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 92.32 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 91.79 | gold quality |
| sperm | CL:0000019 | 91.19 | gold quality |
| epithelium of bronchus | UBERON:0002031 | 91.05 | gold quality |
| bronchus | UBERON:0002185 | 90.16 | gold quality |
| right uterine tube | UBERON:0001302 | 89.80 | gold quality |
| nephron tubule | UBERON:0001231 | 89.72 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 89.53 | gold quality |
| body of pancreas | UBERON:0001150 | 88.99 | gold quality |
| renal medulla | UBERON:0000362 | 88.70 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 88.58 | gold quality |
| upper leg skin | UBERON:0004262 | 88.55 | gold quality |
| male germ cell | CL:0000015 | 88.49 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 87.95 | gold quality |
| amniotic fluid | UBERON:0000173 | 87.12 | gold quality |
| caput epididymis | UBERON:0004358 | 86.92 | gold quality |
| kidney epithelium | UBERON:0004819 | 86.44 | gold quality |
| right lobe of liver | UBERON:0001114 | 86.30 | gold quality |
| kidney | UBERON:0002113 | 85.69 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 85.48 | gold quality |
| endometrium | UBERON:0001295 | 85.18 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 85.02 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 84.91 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 84.84 | gold quality |
| endothelial cell | CL:0000115 | 84.71 | silver quality |
| pancreas | UBERON:0001264 | 84.69 | gold quality |
| cortex of kidney | UBERON:0001225 | 84.62 | gold quality |
| dorsal motor nucleus of vagus nerve | UBERON:0002870 | 84.46 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-25 | yes | 19.82 |
| E-ANND-3 | yes | 6.14 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
92 targeting GRAMD1C, 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-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-3134 | 100.00 | 66.43 | 777 |
| HSA-MIR-4682 | 100.00 | 68.89 | 1258 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-1236-3P | 99.94 | 68.04 | 1695 |
| HSA-MIR-101-3P | 99.94 | 75.03 | 2230 |
| HSA-MIR-548AE-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-548AH-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AM-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AQ-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-5680 | 99.91 | 69.83 | 3421 |
| HSA-MIR-1305 | 99.91 | 71.43 | 3443 |
| HSA-MIR-3671 | 99.90 | 73.04 | 3897 |
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | gramd1c | ENSDARG00000076238 |
| mus_musculus | Gramd1c | ENSMUSG00000036292 |
| rattus_norvegicus | Gramd1c | ENSRNOG00000053406 |
| drosophila_melanogaster | GramD1B | FBGN0085423 |
| caenorhabditis_elegans | ZC328.3 | WBGENE00022593 |
Paralogs (4): GRAMD1B (ENSG00000023171), GRAMD1A (ENSG00000089351), GRAMD2B (ENSG00000155324), GRAMD2A (ENSG00000175318)
Protein
Protein identifiers
Protein Aster-C — Q8IYS0 (reviewed: Q8IYS0)
Alternative names: GRAM domain-containing protein 1C
All UniProt accessions (6): Q8IYS0, B4DF12, C9J7B8, C9K0V2, E9PHT3, F8WCA8
UniProt curated annotations — full annotation on UniProt →
Function. Cholesterol transporter that mediates non-vesicular transport of cholesterol from the plasma membrane (PM) to the endoplasmic reticulum (ER). Contains unique domains for binding cholesterol and the PM, thereby serving as a molecular bridge for the transfer of cholesterol from the PM to the ER. Plays a crucial role in cholesterol homeostasis and has the unique ability to localize to the PM based on the level of membrane cholesterol. In lipid-poor conditions localizes to the ER membrane and in response to excess cholesterol in the PM is recruited to the endoplasmic reticulum-plasma membrane contact sites (EPCS) which is mediated by the GRAM domain. At the EPCS, the sterol-binding VASt/ASTER domain binds to the cholesterol in the PM and facilitates its transfer from the PM to ER.
Subcellular location. Endoplasmic reticulum membrane. Cell membrane.
Domain organisation. GRAM domain binds phosphatidylserine in the PM and mediates protein recruitment to endoplasmic reticulum-plasma membrane contact sites (EPCS) in response to excess cholesterol in the PM. VASt (VAD1 Analog of StAR-related lipid transfer) domain, also known as ASTER (Greek for star) domain is a sterol-binding domain.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8IYS0-1 | 1 | yes |
| Q8IYS0-2 | 2 |
RefSeq proteins (2): NP_001165576, NP_060047* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR004182 | GRAM | Domain |
| IPR011993 | PH-like_dom_sf | Homologous_superfamily |
| IPR031968 | VASt | Domain |
| IPR051482 | Cholesterol_transport | Family |
Pfam: PF02893, PF16016
UniProt features (24 total): strand 7, helix 3, turn 3, region of interest 3, domain 2, chain 1, transmembrane region 1, sequence conflict 1, compositionally biased region 1, splice variant 1, sequence variant 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 6GN5 | X-RAY DIFFRACTION | 1.41 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8IYS0-F1 | 68.39 | 0.30 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 136 (showing top):
LEE_NEURAL_CREST_STEM_CELL_DN, GOBP_CELLULAR_RESPONSE_TO_LIPID, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_ORGANIC_HYDROXY_COMPOUND_TRANSPORT, GGGCATT_MIR365, GOBP_RESPONSE_TO_STEROL, OCT1_03, CAIRO_HEPATOBLASTOMA_DN, GOBP_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, PYEON_CANCER_HEAD_AND_NECK_VS_CERVICAL_UP, GOBP_CELLULAR_RESPONSE_TO_CHOLESTEROL, GOZGIT_ESR1_TARGETS_UP, GOBP_RESPONSE_TO_LIPID, GOBP_CELLULAR_RESPONSE_TO_STEROL, NAKAMURA_TUMOR_ZONE_PERIPHERAL_VS_CENTRAL_DN
GO Biological Process (3): intracellular sterol transport (GO:0032366), cellular response to cholesterol (GO:0071397), lipid transport (GO:0006869)
GO Molecular Function (4): cholesterol binding (GO:0015485), cholesterol transfer activity (GO:0120020), protein binding (GO:0005515), lipid binding (GO:0008289)
GO Cellular Component (7): endoplasmic reticulum membrane (GO:0005789), plasma membrane (GO:0005886), endoplasmic reticulum-plasma membrane contact site (GO:0140268), endoplasmic reticulum (GO:0005783), membrane (GO:0016020), organelle (GO:0043226), organelle membrane contact site (GO:0044232)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| binding | 2 |
| intracellular anatomical structure | 1 |
| sterol transport | 1 |
| intracellular lipid transport | 1 |
| cellular response to sterol | 1 |
| response to cholesterol | 1 |
| cellular response to alcohol | 1 |
| transport | 1 |
| lipid localization | 1 |
| sterol binding | 1 |
| alcohol binding | 1 |
| cholesterol binding | 1 |
| sterol transfer activity | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| membrane | 1 |
| cell periphery | 1 |
| organelle membrane contact site | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| organelle | 1 |
Protein interactions and networks
STRING
492 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| GRAMD1C | GTPBP8 | Q8N3Z3 | 559 |
| GRAMD1C | LHFPL7 | Q6ICI0 | 500 |
| GRAMD1C | SPICE1 | Q8N0Z3 | 487 |
| GRAMD1C | TMEM205 | Q6UW68 | 464 |
| GRAMD1C | ANTXRL | A6NF34 | 460 |
| GRAMD1C | TTC9 | Q92623 | 458 |
| GRAMD1C | WDR17 | Q8IZU2 | 454 |
| GRAMD1C | MSLNL | Q96KJ4 | 448 |
| GRAMD1C | SVOPL | Q8N434 | 440 |
| GRAMD1C | EFR3B | Q9Y2G0 | 421 |
| GRAMD1C | TM9SF3 | Q9HD45 | 416 |
| GRAMD1C | GCNT7 | Q6ZNI0 | 412 |
| GRAMD1C | PCDHB1 | Q9Y5F3 | 401 |
| GRAMD1C | KICS2 | Q96MD2 | 393 |
| GRAMD1C | NAA50 | Q9GZZ1 | 392 |
IntAct
34 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CD151 | GRAMD1C | psi-mi:“MI:0915”(physical association) | 0.850 |
| GRAMD1C | CD151 | psi-mi:“MI:0915”(physical association) | 0.850 |
| FIBP | CDK5 | psi-mi:“MI:0914”(association) | 0.840 |
| CD72 | GRAMD1C | psi-mi:“MI:0915”(physical association) | 0.560 |
| EVA1C | UPK3BL1 | psi-mi:“MI:0914”(association) | 0.530 |
| TMX1 | NRP1 | psi-mi:“MI:0914”(association) | 0.530 |
| HEATR3 | SLC27A2 | psi-mi:“MI:0914”(association) | 0.530 |
| GRAMD2B | EFCAB14 | psi-mi:“MI:0914”(association) | 0.530 |
| PARP2 | GRAMD1C | psi-mi:“MI:0557”(adp ribosylation reaction) | 0.440 |
| CSNK2A1 | RPS3A | psi-mi:“MI:0914”(association) | 0.350 |
| CSNK2A2 | VWA8 | psi-mi:“MI:0914”(association) | 0.350 |
| TTYH1 | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| CLRN2 | FAM234B | psi-mi:“MI:0914”(association) | 0.350 |
| SCARA3 | DEGS1 | psi-mi:“MI:0914”(association) | 0.350 |
| GRAMD1B | ADD2 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC16A2 | QNG1 | psi-mi:“MI:0914”(association) | 0.350 |
| GRAMD1B | TRAPPC10 | psi-mi:“MI:0914”(association) | 0.350 |
| CALM1 | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| FIBP | AGRN | psi-mi:“MI:0914”(association) | 0.350 |
| SLC16A2 | TNFRSF10B | psi-mi:“MI:0914”(association) | 0.350 |
| FHIP2B | VWA8 | psi-mi:“MI:2364”(proximity) | 0.270 |
| CD72 | GRAMD1C | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (41): GRAMD1C (Two-hybrid), GRAMD1C (Affinity Capture-MS), GRAMD1C (Affinity Capture-MS), GRAMD1C (Affinity Capture-MS), GRAMD1C (Affinity Capture-MS), GRAMD1C (Reconstituted Complex), GRAMD1C (Two-hybrid), GRAMD1C (Affinity Capture-MS), GRAMD1C (Affinity Capture-MS), GRAMD1C (Affinity Capture-MS), GRAMD1C (Affinity Capture-MS), GRAMD1C (Affinity Capture-MS), GRAMD1C (Affinity Capture-MS), GRAMD1C (Proximity Label-MS), GRAMD1C (Two-hybrid)
ESM2 similar proteins: A9SV60, A9SY64, B9FFA3, B9FS33, C0SUW7, C6KIE6, F4HP88, F4I7L1, F4IHJ0, F4J7S8, F4JLE5, F4JTI1, F4JVA6, F4JVA9, F4JYJ3, F4K6D3, I1HNB2, K7TQE3, O22977, O60502, Q0D5P3, Q501H5, Q5RC33, Q5W6L9, Q6AUQ7, Q8CI52, Q8GXC6, Q8IYS0, Q8LPQ7, Q8RXT5, Q8VIJ5, Q93ZE9, Q94A09, Q94A34, Q94B77, Q9C5S2, Q9C9U5, Q9EQQ9, Q9FKG6, Q9FKV5
Diamond homologs: A1CFB3, A1CYS1, A2QNQ5, A7A179, A7ERM5, A7KAK6, A7KAN4, A7TF84, C4B4E5, I1S8Q3, P0CN90, P0CN91, P64866, P9WN06, P9WN07, Q06321, Q0CKU4, Q0UY53, Q2U0C3, Q4WID6, Q54IL5, Q5A950, Q5B4C9, Q5RC33, Q6BN88, Q6C8M8, Q6CUV2, Q751Z4, Q7S1I0, Q8C115, Q8CI52, Q8IVE3, Q8IYS0, Q8N4B1, Q8NJS1, Q9M8Z7, Q9XIG1, Q9Y751, Q00IB7, Q08001
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
99 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 76 |
| Likely benign | 5 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3512 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:113844497:TTCCA:T | acceptor_loss | 1.0000 |
| 3:113844498:TCCAG:T | acceptor_loss | 1.0000 |
| 3:113844499:CCAG:C | acceptor_loss | 1.0000 |
| 3:113844500:CAG:C | acceptor_loss | 1.0000 |
| 3:113844501:AGGTG:A | acceptor_loss | 1.0000 |
| 3:113844502:G:GC | acceptor_loss | 1.0000 |
| 3:113844578:G:GT | donor_gain | 1.0000 |
| 3:113875588:G:GG | donor_gain | 1.0000 |
| 3:113904270:G:GT | donor_gain | 1.0000 |
| 3:113904270:GGA:G | donor_gain | 1.0000 |
| 3:113904271:GA:G | donor_gain | 1.0000 |
| 3:113904271:GAG:G | donor_gain | 1.0000 |
| 3:113904273:GTTA:G | donor_gain | 1.0000 |
| 3:113904274:T:G | donor_gain | 1.0000 |
| 3:113909121:G:T | donor_loss | 1.0000 |
| 3:113909122:T:A | donor_loss | 1.0000 |
| 3:113930535:A:T | donor_gain | 1.0000 |
| 3:113930705:T:TA | acceptor_gain | 1.0000 |
| 3:113930708:T:A | acceptor_gain | 1.0000 |
| 3:113930712:A:AG | acceptor_gain | 1.0000 |
| 3:113930713:G:GA | acceptor_gain | 1.0000 |
| 3:113930713:GAT:G | acceptor_gain | 1.0000 |
| 3:113930713:GATGT:G | acceptor_gain | 1.0000 |
| 3:113930829:GCAG:G | donor_gain | 1.0000 |
| 3:113930833:G:GA | donor_loss | 1.0000 |
| 3:113930834:T:A | donor_loss | 1.0000 |
| 3:113933509:A:AG | acceptor_gain | 1.0000 |
| 3:113933510:G:GG | acceptor_gain | 1.0000 |
| 3:113933648:GC:G | donor_gain | 1.0000 |
| 3:113933885:G:GT | donor_gain | 1.0000 |
AlphaMissense
4346 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:113875522:G:A | G100R | 1.000 |
| 3:113875522:G:C | G100R | 1.000 |
| 3:113876231:G:C | A144P | 1.000 |
| 3:113875494:T:G | C90W | 0.999 |
| 3:113875496:C:A | A91D | 0.999 |
| 3:113875499:T:C | L92P | 0.999 |
| 3:113875514:T:C | L97S | 0.999 |
| 3:113875523:G:A | G100E | 0.999 |
| 3:113875523:G:T | G100V | 0.999 |
| 3:113875526:G:C | R101P | 0.999 |
| 3:113875529:T:C | L102P | 0.999 |
| 3:113875555:T:C | F111L | 0.999 |
| 3:113875556:T:C | F111S | 0.999 |
| 3:113875557:C:A | F111L | 0.999 |
| 3:113875557:C:G | F111L | 0.999 |
| 3:113876214:C:A | A138D | 0.999 |
| 3:113876223:T:C | I141T | 0.999 |
| 3:113876232:C:A | A144D | 0.999 |
| 3:113882759:T:C | F156S | 0.999 |
| 3:113882777:G:T | R162M | 0.999 |
| 3:113869555:T:C | F75L | 0.998 |
| 3:113869557:C:A | F75L | 0.998 |
| 3:113869557:C:G | F75L | 0.998 |
| 3:113875492:T:C | C90R | 0.998 |
| 3:113875493:G:A | C90Y | 0.998 |
| 3:113875535:T:C | L104P | 0.998 |
| 3:113875550:T:C | L109P | 0.998 |
| 3:113875554:T:G | C110W | 0.998 |
| 3:113876203:G:C | K134N | 0.998 |
| 3:113876203:G:T | K134N | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000034899 (3:113882098 G>A), RS1000039589 (3:113905290 A>G), RS1000040390 (3:113843379 T>C), RS1000061758 (3:113826940 T>A), RS1000107412 (3:113837327 G>A), RS1000109283 (3:113905784 C>T), RS1000120285 (3:113851023 T>C), RS1000141162 (3:113897071 C>G), RS1000247659 (3:113831185 A>G), RS1000281264 (3:113944986 A>G), RS1000289126 (3:113850618 T>G), RS1000323237 (3:113890249 A>G), RS1000380397 (3:113837684 C>T), RS1000406270 (3:113868262 G>C), RS1000433257 (3:113905648 TATA>T)
Disease associations
OMIM: gene MIM:620180 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): primary ovarian failure (MONDO:0005387)
Orphanet (1): NON RARE IN EUROPE: Primary ovarian failure (Orphanet:619)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST006585_135 | Blood protein levels | 4.000000e-133 |
| GCST009218_47 | Lateral ventricle temporal horn volume | 3.000000e-06 |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D016649 | Primary Ovarian Insufficiency | C12.050.351.500.056.630.750; C12.100.250.056.630.750; C19.391.630.750 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067584 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
42 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases expression, decreases methylation, increases expression | 6 |
| methylmercuric chloride | decreases expression | 3 |
| sodium arsenite | increases expression, affects cotreatment, decreases expression, increases abundance | 3 |
| trichostatin A | affects expression, decreases expression, increases expression | 2 |
| mercuric bromide | decreases expression, affects cotreatment | 2 |
| Acetaminophen | decreases expression | 2 |
| Estradiol | decreases expression, affects cotreatment | 2 |
| Nickel | decreases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| Tretinoin | increases expression | 2 |
| Cyclosporine | decreases expression | 2 |
| Aflatoxin B1 | decreases expression | 2 |
| p-Chloromercuribenzoic Acid | affects cotreatment, decreases expression | 2 |
| GSK-J4 | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| propionaldehyde | increases expression | 1 |
| butyraldehyde | increases expression | 1 |
| manganese chloride | affects cotreatment, decreases expression, increases abundance | 1 |
| nickel sulfate | increases expression | 1 |
| pentanal | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| entinostat | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | decreases expression, affects cotreatment | 1 |
| clothianidin | decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| 2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine | increases expression, increases response to substance | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Vorinostat | increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5550807 | Binding | Binding affinity to aster C (unknown origin) | Fluorescent probes and degraders of the sterol transport protein Aster-A. — Bioorg Med Chem |
Clinical trials (associated diseases)
75 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 |
| 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 |
| 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 |
| NCT04009473 | PHASE1/PHASE2 | UNKNOWN | Stem Cell Therapy and Growth Factor Ovarian in Vitro Activation |
| NCT04071574 | PHASE1/PHASE2 | COMPLETED | Comparative Study on the Efficacy of Ovarian Stimulation Protocols on the Success Rate of ICSI in Female Infertility |
| NCT04922398 | PHASE1/PHASE2 | UNKNOWN | Ovarian Injection of PRP (Platelet -Rich Plasma) Vs Normal Saline in Premature Ovarian Insufficiency |
| NCT05462379 | PHASE1/PHASE2 | ACTIVE_NOT_RECRUITING | Autologous Heterotopic Fresh Ovarian Graft in Woman With LACC Eligible for Pelvic Radiotherapy Treatment. |
| NCT06202547 | PHASE1/PHASE2 | UNKNOWN | Intra-ovarian Injection of MSC-EVs in Idiopathic Premature Ovarian Failure |
| NCT01129947 | EARLY_PHASE1 | WITHDRAWN | The Use of DHEA in Women With Premature Ovarian Failure |
| NCT05522634 | EARLY_PHASE1 | UNKNOWN | A Clinical Study of Chinese Herbal Compound TJAOA101 in the Treatment of Premature Ovarian Insufficiency |
| NCT07308327 | EARLY_PHASE1 | ACTIVE_NOT_RECRUITING | The Influence of Gut Microbiota on Ovarian Function: A Single-center, Randomized,Double Blind, Parallel-controlled, Exploratory Clinical Trial |
| NCT00001275 | Not specified | COMPLETED | Ovarian Follicle Function in Patients With Primary Ovarian Failure |
| NCT00001306 | Not specified | COMPLETED | Steroid Therapy in Autoimmune Premature Ovarian Failure |
| NCT00006156 | Not specified | COMPLETED | Feasibility Study for Development of an Early Test for Ovarian Failure |
| NCT00119925 | Not specified | UNKNOWN | ‘SPRING’-Study: Subfertility Guidelines: Patient Related Implementation in the Netherlands Among Gynaecologists |
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.