STARD7
geneOn this page
Also known as GTT1
Summary
STARD7 (StAR related lipid transfer domain containing 7, HGNC:18063) is a protein-coding gene on chromosome 2q11.2, encoding StAR-related lipid transfer protein 7, mitochondrial (Q9NQZ5). May play a protective role in mucosal tissues by preventing exaggerated allergic responses. It is a selective cancer dependency (DepMap: 36.0% of cell lines).
Predicted to enable molecular carrier activity. Predicted to be involved in ubiquinone biosynthetic process. Predicted to act upstream of or within several processes, including establishment of skin barrier; mucociliary clearance; and myeloid dendritic cell activation. Located in mitochondrion. Implicated in familial adult myoclonic epilepsy 2.
Source: NCBI Gene 56910 — RefSeq curated summary.
At a glance
- Gene–disease (curated): epilepsy, familial adult myoclonic, 2 (Limited, GenCC)
- GWAS associations: 1
- Clinical variants (ClinVar): 58 total — 2 pathogenic
- Phenotypes (HPO): 17
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 36.0% of screened cell lines
- MANE Select transcript:
NM_020151
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:18063 |
| Approved symbol | STARD7 |
| Name | StAR related lipid transfer domain containing 7 |
| Location | 2q11.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | GTT1 |
| Ensembl gene | ENSG00000084090 |
| Ensembl biotype | protein_coding |
| OMIM | 616712 |
| Entrez | 56910 |
Gene structure
Transcript identifiers
Ensembl transcripts: 15 — 11 protein_coding, 3 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000337288, ENST00000443962, ENST00000462501, ENST00000479456, ENST00000488084, ENST00000495687, ENST00000869792, ENST00000869793, ENST00000869794, ENST00000869795, ENST00000869796, ENST00000914443, ENST00000914444, ENST00000914445, ENST00000949521
RefSeq mRNA: 2 — MANE Select: NM_020151
NM_001385622, NM_020151
CCDS: CCDS2017
Canonical transcript exons
ENST00000337288 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000540421 | 96193078 | 96193160 |
| ENSE00000921755 | 96193242 | 96193352 |
| ENSE00001817479 | 96184859 | 96186914 |
| ENSE00001853520 | 96208145 | 96208827 |
| ENSE00003614687 | 96195341 | 96195549 |
| ENSE00003622057 | 96187217 | 96187301 |
| ENSE00003643171 | 96194958 | 96195007 |
| ENSE00003663624 | 96192369 | 96192468 |
Expression profiles
Bgee: expression breadth ubiquitous, 295 present calls, max score 99.61.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 76.8921 / max 576.1547, expressed in 1825 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 29722 | 39.7847 | 1821 |
| 29720 | 24.9506 | 1816 |
| 29721 | 5.6099 | 1721 |
| 29718 | 3.2444 | 1352 |
| 29723 | 2.3824 | 1332 |
| 29715 | 0.5654 | 314 |
| 29716 | 0.1882 | 93 |
| 29717 | 0.1665 | 41 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 99.61 | gold quality |
| oocyte | CL:0000023 | 99.17 | gold quality |
| medial globus pallidus | UBERON:0002477 | 99.00 | gold quality |
| deltoid | UBERON:0001476 | 98.89 | gold quality |
| tibialis anterior | UBERON:0001385 | 98.85 | gold quality |
| globus pallidus | UBERON:0001875 | 98.81 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 98.75 | gold quality |
| quadriceps femoris | UBERON:0001377 | 98.73 | gold quality |
| vastus lateralis | UBERON:0001379 | 98.68 | gold quality |
| cranial nerve II | UBERON:0000941 | 98.60 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 98.58 | gold quality |
| cerebellar vermis | UBERON:0004720 | 98.58 | gold quality |
| heart right ventricle | UBERON:0002080 | 98.54 | gold quality |
| body of tongue | UBERON:0011876 | 98.54 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 98.53 | gold quality |
| ileal mucosa | UBERON:0000331 | 98.50 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 98.49 | gold quality |
| renal medulla | UBERON:0000362 | 98.48 | gold quality |
| middle frontal gyrus | UBERON:0002702 | 98.48 | gold quality |
| paraflocculus | UBERON:0005351 | 98.48 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 98.48 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 98.46 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 98.42 | gold quality |
| visceral pleura | UBERON:0002401 | 98.40 | gold quality |
| gluteal muscle | UBERON:0002000 | 98.37 | gold quality |
| tongue | UBERON:0001723 | 98.36 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 98.36 | gold quality |
| postcentral gyrus | UBERON:0002581 | 98.34 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 98.33 | gold quality |
| parietal lobe | UBERON:0001872 | 98.28 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): CTNNB1, NR5A1, TCF7L2
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 36.0% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 15)
- the apparent occurrence of an unusual TG 3’ splice site in intron 1 is discussed (PMID:17672918)
- Beta-catenin and TCF4 activate the human StarD7 gene interacting with its promoter region through Wnt/beta-catenin signalling. (PMID:19679347)
- These results suggest that StarD7 facilitates the delivery of phosphatidylcholine to mitochondria in non-vesicular system. (PMID:20042613)
- The SF-1 and beta-catenin pathway convergence on StarD7 expression may have important implications in the phospholipid uptake and transport, contributing to the normal trophoblast development. (PMID:21622533)
- StarD7 behaves as a fusogenic protein in model and cell membrane bilayers. (PMID:22063720)
- StarD7 modulates ABCG2 multidrug transporter level, cell migration, proliferation, and biochemical and morphological differentiation marker expression in a human trophoblast cell model. (PMID:22952907)
- MFSD2B, CCL20 and STAT1, or STARD7 and ZNF512 genes may be risk or protect factors in prognosis of ADC; HTR2B, DPP4, and TGFBRAP1 genes may be risk factors in prognosis of SQC. (PMID:27301951)
- The results indicate that StarD7 contributes to the modulation of cellular redox homeostasis. (PMID:27554972)
- this study demonstrated that StarD7, a non-vesicular carrier of PC, is anchored onto the OMM via its N-terminal TM domain. (PMID:28821867)
- PARL preserves mitochondrial membrane homeostasis via STARD7 processing and is emerging as a critical regulator of protein localization between mitochondria and the cytosol (PMID:29301859)
- The data point at StarD7 as a candidate effector protein by which ceramides may exert part of their mitochondria-mediated cytotoxic effects. (PMID:29343537)
- An ATTTC expansion in the first intron of STARD7 segregated with Familial Adult Myoclonic Epilepsy (FAME2, OMIM: 607876)in 158 typically affected individuals. Expression of STARD7 mRNA and protein abundance was not altered in fibroblast cell lines derived from individuals with FAME2 ATTTC repeat expansions. (PMID:31664034)
- Familial Adult Myoclonic Epilepsy type 2 is caused by an expansion of an ATTTC pentamer within the first intron of STARD7. (PMID:31664034)
- The phosphatidylcholine transfer protein StarD7 is important for myogenic differentiation in mouse myoblast C2C12 cells and human primary skeletal myoblasts. (PMID:32071354)
- Role of the lipid transport protein StarD7 in mitochondrial dynamics. (PMID:34416390)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | stard7 | ENSDARG00000074858 |
| mus_musculus | Stard7 | ENSMUSG00000027367 |
| rattus_norvegicus | Stard7 | ENSRNOG00000013479 |
| drosophila_melanogaster | CG6565 | FBGN0032513 |
| caenorhabditis_elegans | WBGENE00007386 |
Paralogs (2): PCTP (ENSG00000141179), STARD10 (ENSG00000214530)
Protein
Protein identifiers
StAR-related lipid transfer protein 7, mitochondrial — Q9NQZ5 (reviewed: Q9NQZ5)
Alternative names: Gestational trophoblastic tumor protein 1, START domain-containing protein 7
All UniProt accessions (2): Q9NQZ5, C9JTD3
UniProt curated annotations — full annotation on UniProt →
Function. May play a protective role in mucosal tissues by preventing exaggerated allergic responses.
Subcellular location. Mitochondrion.
Tissue specificity. Expressed in nasal epithelial cells. Down-regulated in nasal epithelial cells in patients experiencing an asthma exacerbation as compared to stable asthmatics and healthy controls.
Post-translational modifications. Proteolytically cleaved by PARL.
RefSeq proteins (2): NP_001372551, NP_064536* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002913 | START_lipid-bd_dom | Domain |
| IPR023393 | START-like_dom_sf | Homologous_superfamily |
| IPR041949 | START_STARD7 | Domain |
| IPR051213 | START_lipid_transfer | Family |
Pfam: PF01852
UniProt features (9 total): region of interest 2, transit peptide 1, chain 1, domain 1, coiled-coil region 1, site 1, sequence variant 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NQZ5-F1 | 75.69 | 0.39 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (1): 77–78 (cleavage; by parl)
Function
Pathways and Gene Ontology
Reactome pathways
10 pathways
| ID | Pathway |
|---|---|
| R-HSA-1483191 | Synthesis of PC |
| R-HSA-2142789 | Ubiquinol biosynthesis |
| R-HSA-9837999 | Mitochondrial protein degradation |
| R-HSA-1430728 | Metabolism |
| R-HSA-1483206 | Glycerophospholipid biosynthesis |
| R-HSA-1483257 | Phospholipid metabolism |
| R-HSA-196854 | Metabolism of vitamins and cofactors |
| R-HSA-392499 | Metabolism of proteins |
| R-HSA-556833 | Metabolism of lipids |
| R-HSA-8978934 | Metabolism of cofactors |
MSigDB gene sets: 293 (showing top):
GOBP_EPITHELIUM_DEVELOPMENT, GOBP_RESPIRATORY_GASEOUS_EXCHANGE_BY_RESPIRATORY_SYSTEM, MORF_SMC1L1, GOBP_INFLAMMATORY_RESPONSE, MORF_UBE2I, MORF_HDAC1, MORF_UBE2N, MORF_RAD21, MORF_CDK2, GOBP_RESPIRATORY_SYSTEM_PROCESS, MORF_HDAC2, GOBP_KETONE_METABOLIC_PROCESS, PUJANA_CHEK2_PCC_NETWORK, MORF_TERF1, GTGCCTT_MIR506
GO Biological Process (7): myeloid dendritic cell activation (GO:0001773), ubiquinone biosynthetic process (GO:0006744), inflammatory response (GO:0006954), type 2 immune response (GO:0042092), establishment of skin barrier (GO:0061436), mucociliary clearance (GO:0120197), intermembrane lipid transfer (GO:0120009)
GO Molecular Function (4): lipid binding (GO:0008289), lipid transfer activity (GO:0120013), molecular carrier activity (GO:0140104), protein binding (GO:0005515)
GO Cellular Component (4): extracellular region (GO:0005576), mitochondrion (GO:0005739), mitochondrial outer membrane (GO:0005741), cytoplasm (GO:0005737)
Reactome top-level categories
Rollup of top-7 pathways:
| Category | Pathways |
|---|---|
| Metabolism | 2 |
| Glycerophospholipid biosynthesis | 1 |
| Metabolism of cofactors | 1 |
| Metabolism of proteins | 1 |
| Phospholipid metabolism | 1 |
| Metabolism of lipids | 1 |
| Metabolism of vitamins and cofactors | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| binding | 3 |
| cellular anatomical structure | 2 |
| myeloid leukocyte activation | 1 |
| ubiquinone metabolic process | 1 |
| quinone biosynthetic process | 1 |
| defense response | 1 |
| immune response | 1 |
| skin epidermis development | 1 |
| respiratory system process | 1 |
| epithelial cilium movement involved in extracellular fluid movement | 1 |
| lipid transport | 1 |
| membrane organization | 1 |
| transporter activity | 1 |
| lipid carrier activity | 1 |
| intermembrane lipid transfer | 1 |
| molecular_function | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| mitochondrial membrane | 1 |
| organelle outer membrane | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
1074 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| STARD7 | SAMD12 | Q8N8I0 | 758 |
| STARD7 | CERT1 | Q9Y5P4 | 689 |
| STARD7 | STAR | P49675 | 666 |
| STARD7 | MARCHF6 | O60337 | 649 |
| STARD7 | YEATS2 | Q9ULM3 | 649 |
| STARD7 | RAPGEF2 | Q9Y4G8 | 645 |
| STARD7 | STARD5 | P59094 | 645 |
| STARD7 | STARD3 | Q14849 | 627 |
| STARD7 | TRIAP1 | O43715 | 557 |
| STARD7 | PRELID1 | Q9Y255 | 553 |
| STARD7 | STARD8 | Q92502 | 551 |
| STARD7 | STARD10 | Q9Y365 | 524 |
| STARD7 | PRELID3B | Q9Y3B1 | 480 |
| STARD7 | STARD4 | Q96DR4 | 478 |
| STARD7 | ACOT12 | Q8WYK0 | 476 |
IntAct
54 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| NDUFAF5 | NDUFAF8 | psi-mi:“MI:0914”(association) | 0.750 |
| PRELID1 | TRIAP1 | psi-mi:“MI:0914”(association) | 0.730 |
| RCC1L | NME6 | psi-mi:“MI:0914”(association) | 0.720 |
| LYRM4 | NDUFAB1 | psi-mi:“MI:0914”(association) | 0.640 |
| PIGM | STARD7 | psi-mi:“MI:0915”(physical association) | 0.590 |
| PRKCA | DUSP11 | psi-mi:“MI:0914”(association) | 0.530 |
| GLTP | AMD1 | psi-mi:“MI:0914”(association) | 0.530 |
| NAT2 | STARD7 | psi-mi:“MI:0914”(association) | 0.530 |
| APOOL | MTX2 | psi-mi:“MI:0914”(association) | 0.530 |
| STARD7 | TLE5 | psi-mi:“MI:0914”(association) | 0.530 |
| HOGA1 | STARD7 | psi-mi:“MI:0915”(physical association) | 0.500 |
| HOGA1 | STARD7 | psi-mi:“MI:0914”(association) | 0.500 |
| STARD7 | H2BC9 | psi-mi:“MI:0915”(physical association) | 0.400 |
| STARD7 | ECE1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ECE1 | STARD7 | psi-mi:“MI:0915”(physical association) | 0.370 |
| PB2 | psi-mi:“MI:0914”(association) | 0.350 | |
| AGFG2 | AGFG1 | psi-mi:“MI:0914”(association) | 0.350 |
| STARD7 | TLE3 | psi-mi:“MI:0914”(association) | 0.350 |
| CCDC91 | CCDC102A | psi-mi:“MI:0914”(association) | 0.350 |
| CHCHD10 | TIMM44 | psi-mi:“MI:0914”(association) | 0.350 |
| IVD | ETFA | psi-mi:“MI:0914”(association) | 0.350 |
| AFG1L | SLC25A6 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (56): STARD7 (Affinity Capture-MS), KIAA0907 (Affinity Capture-MS), TLE1 (Affinity Capture-MS), TLE3 (Affinity Capture-MS), STARD7 (Affinity Capture-MS), STARD7 (Affinity Capture-MS), STARD7 (Affinity Capture-MS), STARD7 (Affinity Capture-MS), STARD7 (Affinity Capture-MS), STARD7 (Affinity Capture-MS), STARD7 (Affinity Capture-MS), STARD7 (Affinity Capture-MS), STARD7 (Affinity Capture-MS), STARD7 (Affinity Capture-MS), STARD7 (Affinity Capture-MS)
ESM2 similar proteins: A1A4M6, A5GFX0, A5PJU6, O46689, O88736, P49675, P51557, P53808, P59095, P59096, P70114, P79245, P97826, Q28918, Q28996, Q3U1V6, Q4R5S9, Q58DB0, Q5BKH5, Q5IH13, Q5IH14, Q5R8P9, Q64421, Q6GM21, Q6IQS6, Q6NTS7, Q6P9U4, Q6TMK8, Q8R1R3, Q8VE85, Q8WYK0, Q90673, Q90ZB9, Q94E75, Q96DR4, Q96N28, Q99JV5, Q99NB7, Q9CYY7, Q9DBK0
Diamond homologs: P02720, P53808, P53809, Q8R1R3, Q9NQZ5, Q9UKL6, Q01277, Q54N86
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 58 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Mitochondrial protein import | 6 | 22.4× | 3e-05 |
| Respiratory electron transport | 9 | 19.0× | 2e-07 |
| Complex I biogenesis | 5 | 18.4× | 3e-04 |
| Aerobic respiration and respiratory electron transport | 7 | 13.8× | 4e-05 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| mitochondrion organization | 5 | 14.1× | 2e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
58 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 2 |
| Likely pathogenic | 0 |
| Uncertain significance | 45 |
| Likely benign | 3 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (2)
| Variant ID | HGVS | Classification |
|---|---|---|
| 635132 | NM_020151.3(STARD7):c.291-1572_291-1518ATTTT[376]ATTTC[274] | Pathogenic |
| 694447 | NC_000002.12:g.96197067AAAAT[(n)]/AAATG[(n)] | Pathogenic |
SpliceAI
1200 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:96186910:CATGC:C | acceptor_gain | 1.0000 |
| 2:96186912:TGC:T | acceptor_gain | 1.0000 |
| 2:96186913:GCC:G | acceptor_loss | 1.0000 |
| 2:96186914:CCTG:C | acceptor_loss | 1.0000 |
| 2:96186915:C:CC | acceptor_gain | 1.0000 |
| 2:96187211:ACTT:A | donor_loss | 1.0000 |
| 2:96187212:CTT:C | donor_loss | 1.0000 |
| 2:96187214:TAC:T | donor_loss | 1.0000 |
| 2:96187215:ACCAC:A | donor_loss | 1.0000 |
| 2:96187216:C:CA | donor_loss | 1.0000 |
| 2:96187216:CCA:C | donor_gain | 1.0000 |
| 2:96187297:CCATT:C | acceptor_gain | 1.0000 |
| 2:96187298:CATT:C | acceptor_gain | 1.0000 |
| 2:96187298:CATTC:C | acceptor_gain | 1.0000 |
| 2:96187300:TT:T | acceptor_gain | 1.0000 |
| 2:96187302:C:CC | acceptor_gain | 1.0000 |
| 2:96192364:CTCA:C | donor_loss | 1.0000 |
| 2:96192365:TCAC:T | donor_loss | 1.0000 |
| 2:96192366:CACCT:C | donor_loss | 1.0000 |
| 2:96192367:A:AT | donor_loss | 1.0000 |
| 2:96192368:C:CA | donor_loss | 1.0000 |
| 2:96192368:CCT:C | donor_gain | 1.0000 |
| 2:96192464:CAGCA:C | acceptor_gain | 1.0000 |
| 2:96192465:AGCA:A | acceptor_gain | 1.0000 |
| 2:96192466:GCA:G | acceptor_gain | 1.0000 |
| 2:96192466:GCAC:G | acceptor_loss | 1.0000 |
| 2:96192467:CA:C | acceptor_gain | 1.0000 |
| 2:96192467:CAC:C | acceptor_gain | 1.0000 |
| 2:96192469:C:CC | acceptor_gain | 1.0000 |
| 2:96192472:G:C | acceptor_gain | 1.0000 |
AlphaMissense
2422 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:96186890:A:G | L318P | 1.000 |
| 2:96186901:G:C | F314L | 1.000 |
| 2:96186901:G:T | F314L | 1.000 |
| 2:96186903:A:G | F314L | 1.000 |
| 2:96187282:A:G | L288P | 1.000 |
| 2:96187297:C:T | G283D | 1.000 |
| 2:96192394:A:T | I273N | 1.000 |
| 2:96192407:A:G | S269P | 1.000 |
| 2:96193082:A:G | S247P | 1.000 |
| 2:96193123:C:G | R233P | 1.000 |
| 2:96193126:C:G | R232P | 1.000 |
| 2:96193259:A:G | W215R | 1.000 |
| 2:96193259:A:T | W215R | 1.000 |
| 2:96193324:T:A | D193V | 1.000 |
| 2:96193326:C:A | W192C | 1.000 |
| 2:96193326:C:G | W192C | 1.000 |
| 2:96193327:C:G | W192S | 1.000 |
| 2:96193328:A:G | W192R | 1.000 |
| 2:96193328:A:T | W192R | 1.000 |
| 2:96193335:T:A | R189S | 1.000 |
| 2:96193335:T:G | R189S | 1.000 |
| 2:96193336:C:A | R189I | 1.000 |
| 2:96193336:C:G | R189T | 1.000 |
| 2:96195001:C:T | G169E | 1.000 |
| 2:96195343:C:G | R166P | 1.000 |
| 2:96186881:G:T | A321D | 0.999 |
| 2:96186882:C:G | A321P | 0.999 |
| 2:96186888:G:C | H319D | 0.999 |
| 2:96186899:A:G | L315P | 0.999 |
| 2:96186902:A:C | F314C | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000072413 (2:96203793 T>C), RS1000179463 (2:96209214 C>T), RS1000190977 (2:96201659 A>G), RS1000286581 (2:96196784 T>A,C), RS1000292372 (2:96196626 T>C), RS1000668517 (2:96209163 T>G), RS1000719027 (2:96209521 A>C), RS1000758801 (2:96184892 C>T), RS1000871984 (2:96190244 A>C), RS1001076979 (2:96205304 G>A), RS1001235350 (2:96192052 G>A), RS1001638064 (2:96202983 T>C), RS1001807817 (2:96184379 C>T), RS1002023902 (2:96203970 A>C), RS1002054992 (2:96204192 G>A)
Disease associations
OMIM: gene MIM:616712 | disease phenotypes: MIM:607876
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| epilepsy, familial adult myoclonic, 2 | Limited | Autosomal dominant |
Mondo (1): epilepsy, familial adult myoclonic, 2 (MONDO:0011930)
Orphanet (1): Familial adult myoclonic epilepsy (Orphanet:86814)
HPO phenotypes
17 total (17 of 17 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000643 | Blepharospasm |
| HP:0000726 | Dementia |
| HP:0001249 | Intellectual disability |
| HP:0001251 | Ataxia |
| HP:0001312 | Giant somatosensory evoked potentials |
| HP:0001326 | EEG with irregular generalized spike and wave complexes |
| HP:0001336 | Myoclonus |
| HP:0001337 | Tremor |
| HP:0001340 | Enhancement of the C-reflex |
| HP:0001351 | Jerk-locked premyoclonus spikes |
| HP:0002069 | Bilateral tonic-clonic seizure |
| HP:0002076 | Migraine |
| HP:0003581 | Adult onset |
| HP:0003680 | Nonprogressive |
| HP:0010852 | EEG with photoparoxysmal response |
| HP:0100543 | Cognitive impairment |
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001776_1 | Cardiac Troponin-T levels | 8.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005043 | cardiac troponin T measurement |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| C564313 | Epilepsy, Myoclonic, Benign Adult Familial, Type 2 (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL3399912 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
31 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| cobaltous chloride | increases expression | 2 |
| Air Pollutants | decreases expression, increases abundance | 2 |
| Smoke | decreases expression, increases abundance | 2 |
| bisphenol F | affects cotreatment, increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| sodium arsenite | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| K 7174 | decreases expression | 1 |
| erucylphospho-N,N,N-trimethylpropylammonium | decreases expression | 1 |
| ICG 001 | decreases expression | 1 |
| abrine | decreases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Leflunomide | decreases expression | 1 |
| Acetaminophen | affects response to substance | 1 |
| Ethanol | decreases expression, increases expression | 1 |
| Arsenic | affects methylation | 1 |
| Dichlorodiphenyl Dichloroethylene | increases expression | 1 |
| Dexamethasone | increases expression, affects cotreatment | 1 |
| Estradiol | affects expression | 1 |
| Fluorouracil | affects expression | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Ivermectin | increases expression | 1 |
| Thiram | decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Valproic Acid | increases expression | 1 |
| 1-Methyl-3-isobutylxanthine | affects cotreatment, increases expression | 1 |
| Lithium Chloride | decreases activity, increases expression | 1 |
| Sodium Selenite | increases expression | 1 |
| Cadmium Chloride | increases expression | 1 |
ChEMBL screening assays
3 unique, capped per target: 3 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL3405666 | Binding | Binding affinity to His-tagged human recombinant START domain-containing protein 7 containing CERT START domain expressed in Escherichia coli assessed as bound fluorescent ceramide probe level TALON metal affinity resin at 200 pmol incubate | The CERT antagonist HPA-12: first practical synthesis and individual binding evaluation of the four stereoisomers. — Bioorg Med Chem |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Associated diseases: epilepsy, familial adult myoclonic, 2
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): epilepsy, familial adult myoclonic, 2