EFHD1
gene geneOn this page
Also known as FLJ13612
Summary
EFHD1 (EF-hand domain family member D1, HGNC:29556) is a protein-coding gene on chromosome 2q37.1, encoding EF-hand domain-containing protein D1 (Q9BUP0). Acts as a calcium sensor for mitochondrial flash (mitoflash) activation, an event characterized by stochastic bursts of superoxide production.
This gene encodes a member of the EF-hand super family of calcium binding proteins, which are involved in a variety of cellular processes including mitosis, synaptic transmission, and cytoskeletal rearrangement. The protein encoded by this gene is composed of an N-terminal disordered region, proline-rich elements, two EF-hands, and a C-terminal coiled-coil domain. This protein has been shown to associate with the mitochondrial inner membrane, and in HeLa cells, acts as a novel mitochondrial calcium ion sensor for mitochondrial flash activation. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 80303 — RefSeq curated summary.
At a glance
- GWAS associations: 17
- Clinical variants (ClinVar): 37 total
- MANE Select transcript:
NM_025202
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29556 |
| Approved symbol | EFHD1 |
| Name | EF-hand domain family member D1 |
| Location | 2q37.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ13612 |
| Ensembl gene | ENSG00000115468 |
| Ensembl biotype | protein_coding |
| OMIM | 611617 |
| Entrez | 80303 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 7 protein_coding, 1 nonsense_mediated_decay
ENST00000264059, ENST00000409613, ENST00000409708, ENST00000410095, ENST00000427698, ENST00000442845, ENST00000865005, ENST00000865006
RefSeq mRNA: 3 — MANE Select: NM_025202
NM_001243252, NM_001308395, NM_025202
CCDS: CCDS2497, CCDS58755, CCDS82580
Canonical transcript exons
ENST00000264059 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000965612 | 232681585 | 232682776 |
| ENSE00001029714 | 232633604 | 232634006 |
| ENSE00003474969 | 232662802 | 232662949 |
| ENSE00003474989 | 232672309 | 232672443 |
Expression profiles
Bgee: expression breadth ubiquitous, 270 present calls, max score 99.55.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 30.3562 / max 1154.6047, expressed in 932 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 26003 | 27.2236 | 917 |
| 26000 | 1.2823 | 273 |
| 25999 | 0.6963 | 182 |
| 26004 | 0.6634 | 328 |
| 26002 | 0.2591 | 72 |
| 26006 | 0.1377 | 72 |
| 26001 | 0.0583 | 27 |
| 25998 | 0.0354 | 20 |
Top tissues by expression
294 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| inferior olivary complex | UBERON:0002127 | 99.55 | gold quality |
| dorsal motor nucleus of vagus nerve | UBERON:0002870 | 99.27 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 99.19 | gold quality |
| popliteal artery | UBERON:0002250 | 99.01 | gold quality |
| tibial artery | UBERON:0007610 | 99.01 | gold quality |
| spinal cord | UBERON:0002240 | 98.90 | gold quality |
| right coronary artery | UBERON:0001625 | 98.86 | gold quality |
| aorta | UBERON:0000947 | 98.84 | gold quality |
| ascending aorta | UBERON:0001496 | 98.75 | gold quality |
| thoracic aorta | UBERON:0001515 | 98.74 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 98.34 | gold quality |
| cranial nerve II | UBERON:0000941 | 98.32 | gold quality |
| substantia nigra | UBERON:0002038 | 98.32 | gold quality |
| medial globus pallidus | UBERON:0002477 | 98.30 | gold quality |
| globus pallidus | UBERON:0001875 | 98.28 | gold quality |
| midbrain | UBERON:0001891 | 98.19 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 98.16 | gold quality |
| left coronary artery | UBERON:0001626 | 98.02 | gold quality |
| metanephros cortex | UBERON:0010533 | 97.98 | gold quality |
| renal medulla | UBERON:0000362 | 97.93 | gold quality |
| CA1 field of hippocampus | UBERON:0003881 | 97.91 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 97.83 | gold quality |
| coronary artery | UBERON:0001621 | 97.78 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 97.67 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 97.66 | gold quality |
| amygdala | UBERON:0001876 | 97.65 | gold quality |
| putamen | UBERON:0001874 | 97.62 | gold quality |
| hypothalamus | UBERON:0001898 | 97.40 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 97.39 | gold quality |
| blood vessel layer | UBERON:0004797 | 97.38 | gold quality |
Single-cell (SCXA)
Detected in 8 experiment(s), a significant marker in 8.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-10885 | yes | 550.46 |
| E-MTAB-3929 | yes | 186.56 |
| E-MTAB-10287 | yes | 51.11 |
| E-CURD-119 | yes | 47.49 |
| E-GEOD-135922 | yes | 30.94 |
| E-GEOD-84465 | yes | 10.06 |
| E-GEOD-134144 | yes | 8.43 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): HNF4A
miRNA regulators (miRDB)
49 targeting EFHD1, 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-2110 | 99.96 | 66.68 | 1930 |
| HSA-MIR-144-3P | 99.94 | 73.98 | 2698 |
| HSA-MIR-4525 | 99.94 | 64.38 | 675 |
| HSA-MIR-5010-5P | 99.94 | 64.11 | 705 |
| HSA-MIR-3529-3P | 99.90 | 73.55 | 3045 |
| HSA-MIR-345-3P | 99.89 | 70.23 | 1421 |
| HSA-MIR-6857-5P | 99.87 | 65.32 | 985 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-1273H-5P | 99.77 | 66.32 | 2471 |
| HSA-MIR-4517 | 99.76 | 69.19 | 1867 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
| HSA-MIR-4524A-3P | 99.72 | 66.85 | 2406 |
| HSA-MIR-3714 | 99.71 | 70.74 | 2671 |
| HSA-MIR-6883-5P | 99.69 | 68.05 | 3785 |
| HSA-MIR-7-5P | 99.67 | 70.53 | 1809 |
| HSA-MIR-651-5P | 99.64 | 68.49 | 1104 |
| HSA-MIR-6716-5P | 99.56 | 68.62 | 1244 |
| HSA-MIR-7106-5P | 99.53 | 67.47 | 3574 |
| HSA-MIR-3123 | 99.47 | 67.15 | 2693 |
| HSA-MIR-1275 | 99.47 | 67.90 | 2749 |
| HSA-MIR-4316 | 99.37 | 65.75 | 1360 |
| HSA-MIR-5683 | 99.36 | 68.59 | 2083 |
| HSA-MIR-4311 | 99.31 | 70.47 | 3041 |
| HSA-MIR-149-5P | 99.25 | 67.16 | 1315 |
| HSA-MIR-491-5P | 99.13 | 65.98 | 1468 |
| HSA-MIR-935 | 98.82 | 69.36 | 1072 |
| HSA-MIR-16-1-3P | 98.70 | 69.23 | 1538 |
| HSA-MIR-6840-3P | 98.68 | 65.95 | 1923 |
| HSA-MIR-2467-3P | 98.65 | 67.18 | 1969 |
Literature-anchored findings (GeneRIF, showing 4)
- Cloning of novel mouse genes associated with neuronal function, including Efhd1. (PMID:12270117)
- detection of methylation of PPP1R3C alone or in combination with EFHD1 in plasma DNA showed high sensitivity and specificity in CRC detection, and may be useful detection method for CRC, especially for early-stage CRCs. (PMID:24861485)
- EFHD1 functions as a novel mitochondrial Ca(2+) sensor underlying Ca(2+)-dependent activation of mitoflashes (PMID:26975899)
- EFHD1, a novel mitochondrial regulator of tumor metastasis in clear cell renal cell carcinoma. (PMID:36747492)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | efhd1 | ENSDARG00000043446 |
| mus_musculus | Efhd1 | ENSMUSG00000026255 |
| rattus_norvegicus | Efhd1 | ENSRNOG00000015596 |
| drosophila_melanogaster | Swip-1 | FBGN0032731 |
| drosophila_melanogaster | CG14861 | FBGN0038280 |
| caenorhabditis_elegans | WBGENE00012980 |
Paralogs (1): EFHD2 (ENSG00000142634)
Protein
Protein identifiers
EF-hand domain-containing protein D1 — Q9BUP0 (reviewed: Q9BUP0)
Alternative names: EF-hand domain-containing protein 1, Swiprosin-2
All UniProt accessions (4): C9JTV4, Q9BUP0, H7C0I0, Q8WYH2
UniProt curated annotations — full annotation on UniProt →
Function. Acts as a calcium sensor for mitochondrial flash (mitoflash) activation, an event characterized by stochastic bursts of superoxide production. May play a role in neuronal differentiation.
Subcellular location. Mitochondrion inner membrane.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9BUP0-1 | 1 | yes |
| Q9BUP0-2 | 2 |
RefSeq proteins (3): NP_001230181, NP_001295324, NP_079478* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002048 | EF_hand_dom | Domain |
| IPR011992 | EF-hand-dom_pair | Homologous_superfamily |
| IPR040365 | EFHD1/2 | Family |
Pfam: PF13499
UniProt features (20 total): binding site 8, mutagenesis site 4, domain 2, chain 1, modified residue 1, splice variant 1, sequence variant 1, region of interest 1, compositionally biased region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BUP0-F1 | 78.10 | 0.25 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (8): 143; 145; 150; 103; 107; 114; 139; 141
Post-translational modifications (1): 201
Mutagenesis-validated functional residues (4):
| Position | Phenotype |
|---|---|
| 103 | in mtefhd1; abolished ability to enhance mitoflash activity; when associated with k-114; a-139 and k-150. |
| 114 | in mtefhd1; abolished ability to enhance mitoflash activity; when associated with a-103; a-139 and k-150. |
| 139 | in mtefhd1; abolished ability to enhance mitoflash activity; when associated with a-103; k-114 and k-150. |
| 150 | in mtefhd1; abolished ability to enhance mitoflash activity; when associated with a-103; k-114 and a-139. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 174 (showing top):
PAX4_01, PEREZ_TP63_TARGETS, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_NEUROGENESIS, GOBP_HYPEROSMOTIC_RESPONSE, LUCAS_HNF4A_TARGETS_UP, SRF_Q5_01, SRF_C, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, RAMALHO_STEMNESS_DN, GOBP_RESPONSE_TO_SALT_STRESS, TCF11_01, GOBP_REGULATION_OF_RESPONSE_TO_STRESS, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_6
GO Biological Process (2): neuron projection development (GO:0031175), regulation of cellular hyperosmotic salinity response (GO:1900069)
GO Molecular Function (4): calcium ion binding (GO:0005509), calcium ion sensor activity (GO:0061891), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (3): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| neuron development | 1 |
| plasma membrane bounded cell projection organization | 1 |
| cellular hyperosmotic salinity response | 1 |
| regulation of cellular response to osmotic stress | 1 |
| regulation of response to salt stress | 1 |
| metal ion binding | 1 |
| calcium ion binding | 1 |
| metal ion sensor activity | 1 |
| binding | 1 |
| cation binding | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| organelle inner membrane | 1 |
| mitochondrial membrane | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1010 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| EFHD1 | RHAG | Q02094 | 800 |
| EFHD1 | ERMN | Q8TAM6 | 474 |
| EFHD1 | SLC24A1 | O60721 | 447 |
| EFHD1 | TEX44 | Q53QW1 | 421 |
| EFHD1 | RRH | O14718 | 398 |
| EFHD1 | OPN4 | Q9UHM6 | 380 |
| EFHD1 | RHO | P08100 | 379 |
| EFHD1 | OPN3 | Q9H1Y3 | 378 |
| EFHD1 | OPN1SW | P03999 | 361 |
| EFHD1 | ITSN1 | Q15811 | 359 |
| EFHD1 | OPN5 | Q6U736 | 348 |
| EFHD1 | TRIP12 | Q14669 | 347 |
| EFHD1 | EPS8L1 | Q8TE68 | 329 |
| EFHD1 | CYP27C1 | Q4G0S4 | 323 |
| EFHD1 | EFCC1 | Q9HA90 | 320 |
IntAct
62 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| EXOC6B | EXOC5 | psi-mi:“MI:0914”(association) | 0.790 |
| CEP164 | TTBK2 | psi-mi:“MI:0914”(association) | 0.680 |
| ANXA9 | PPL | psi-mi:“MI:0914”(association) | 0.660 |
| CAPZA2 | CNOT1 | psi-mi:“MI:0914”(association) | 0.640 |
| G2E3 | SPECC1L | psi-mi:“MI:0914”(association) | 0.560 |
| ZIC2 | EFHD1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MAS1 | POTEF | psi-mi:“MI:0914”(association) | 0.530 |
| FSD1 | UBFD1 | psi-mi:“MI:0914”(association) | 0.530 |
| DUSP10 | ACTB | psi-mi:“MI:0914”(association) | 0.530 |
| OXNAD1 | HSPD1 | psi-mi:“MI:0914”(association) | 0.530 |
| PPIAL4G | ACTB | psi-mi:“MI:0914”(association) | 0.530 |
| NDNF | EFHD1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| EFHD1 | PSEN1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| NS1 | SAC3D1 | psi-mi:“MI:0914”(association) | 0.350 |
| PB2 | HAX1 | psi-mi:“MI:0914”(association) | 0.350 |
| ESR1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| PPIAL4G | PPIAL4D | psi-mi:“MI:0914”(association) | 0.350 |
| FOXP2 | DUSP14 | psi-mi:“MI:0914”(association) | 0.350 |
| CPLX4 | HSPA8 | psi-mi:“MI:0914”(association) | 0.350 |
| S100A8 | SMTNL2 | psi-mi:“MI:0914”(association) | 0.350 |
| OCIAD1 | NDUFS8 | psi-mi:“MI:0914”(association) | 0.350 |
| PHYHIPL | ATP5F1B | psi-mi:“MI:0914”(association) | 0.350 |
| ADCK2 | SLC25A5 | psi-mi:“MI:0914”(association) | 0.350 |
| PTPMT1 | NDUFAB1 | psi-mi:“MI:0914”(association) | 0.350 |
| CTBP1 | TAF15 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (95): EFHD1 (Affinity Capture-MS), EFHD1 (Affinity Capture-MS), EFHD1 (Affinity Capture-MS), EFHD1 (Affinity Capture-MS), EFHD1 (Affinity Capture-MS), EFHD1 (Affinity Capture-MS), EFHD1 (Affinity Capture-MS), EFHD1 (Affinity Capture-MS), EFHD1 (Affinity Capture-MS), EFHD1 (Affinity Capture-MS), EFHD1 (Affinity Capture-RNA), EFHD1 (Affinity Capture-MS), TCHH (Affinity Capture-MS), KRT33B (Affinity Capture-MS), EFHD1 (Affinity Capture-MS)
ESM2 similar proteins: A0A8I6A2H6, A2VEI2, A4IG32, A4IHK8, A5D7A0, D2HZB0, D4A1F2, E9Q4Z2, F1MF74, O00763, O08874, O14795, O94851, P23092, Q05AA6, Q08BI9, Q13474, Q17QM6, Q3TWN3, Q4FZY0, Q4KUS2, Q4V8B2, Q5E9V1, Q5R9G1, Q5RDI4, Q5U2P1, Q5ZJT0, Q62768, Q62769, Q69ZT9, Q6DFA1, Q86XE3, Q8BHD4, Q8BML1, Q8IWE4, Q8K0V2, Q8WN03, Q96C19, Q9BQI0, Q9BUP0
Diamond homologs: A5D7A0, O70200, O81092, P04112, P04113, P05944, P29289, P54680, P55008, P55009, P81076, Q09011, Q11083, Q17QM6, Q32LE3, Q4FZY0, Q54QX0, Q5RDI4, Q5TM25, Q8VWY7, Q96C19, Q9AWK2, Q9BDK2, Q9BQI0, Q9BUP0, Q9D4J1, Q9D8Y0, Q9EQX4, Q9SRP7, Q9VJ26, O60041, O96102, P06787, P14533, P25071, P80322, Q09665, Q12798, Q9XZP2, A4IF97
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
37 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 30 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
728 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:232634007:G:GG | donor_gain | 1.0000 |
| 2:232662908:G:GT | donor_gain | 1.0000 |
| 2:232662935:C:G | donor_gain | 1.0000 |
| 2:232662947:G:GT | donor_gain | 1.0000 |
| 2:232662947:G:T | donor_gain | 1.0000 |
| 2:232672304:T:A | acceptor_gain | 1.0000 |
| 2:232672307:A:AG | acceptor_gain | 1.0000 |
| 2:232672308:G:GA | acceptor_gain | 1.0000 |
| 2:232672308:GT:G | acceptor_gain | 1.0000 |
| 2:232672308:GTT:G | acceptor_gain | 1.0000 |
| 2:232672308:GTTC:G | acceptor_gain | 1.0000 |
| 2:232672308:GTTCC:G | acceptor_gain | 1.0000 |
| 2:232672419:TGCC:T | donor_gain | 1.0000 |
| 2:232672441:AAGG:A | donor_loss | 1.0000 |
| 2:232672444:G:A | donor_loss | 1.0000 |
| 2:232672445:T:G | donor_loss | 1.0000 |
| 2:232633984:G:GT | donor_gain | 0.9900 |
| 2:232633991:A:T | donor_gain | 0.9900 |
| 2:232634003:AACT:A | donor_gain | 0.9900 |
| 2:232634003:AACTG:A | donor_loss | 0.9900 |
| 2:232634004:ACT:A | donor_gain | 0.9900 |
| 2:232634004:ACTG:A | donor_loss | 0.9900 |
| 2:232634005:CT:C | donor_gain | 0.9900 |
| 2:232634005:CTGT:C | donor_loss | 0.9900 |
| 2:232634006:TGTG:T | donor_loss | 0.9900 |
| 2:232634007:GT:G | donor_loss | 0.9900 |
| 2:232634008:T:G | donor_loss | 0.9900 |
| 2:232662791:T:A | acceptor_gain | 0.9900 |
| 2:232662796:CTGCA:C | acceptor_loss | 0.9900 |
| 2:232662797:TGCA:T | acceptor_loss | 0.9900 |
AlphaMissense
1570 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:232662843:T:C | L115P | 0.991 |
| 2:232633999:T:C | F99L | 0.989 |
| 2:232634001:C:A | F99L | 0.989 |
| 2:232634001:C:G | F99L | 0.989 |
| 2:232662891:T:C | L131P | 0.989 |
| 2:232672309:T:C | F151L | 0.987 |
| 2:232672311:C:A | F151L | 0.987 |
| 2:232672311:C:G | F151L | 0.987 |
| 2:232662856:G:A | M119I | 0.984 |
| 2:232662856:G:C | M119I | 0.984 |
| 2:232662856:G:T | M119I | 0.984 |
| 2:232672432:T:C | F192L | 0.984 |
| 2:232672434:T:A | F192L | 0.984 |
| 2:232672434:T:G | F192L | 0.984 |
| 2:232634000:T:C | F99S | 0.983 |
| 2:232662847:G:C | K116N | 0.983 |
| 2:232662847:G:T | K116N | 0.983 |
| 2:232662883:C:A | H128Q | 0.983 |
| 2:232662883:C:G | H128Q | 0.983 |
| 2:232672321:T:C | F155L | 0.982 |
| 2:232672323:C:A | F155L | 0.982 |
| 2:232672323:C:G | F155L | 0.982 |
| 2:232672310:T:C | F151S | 0.981 |
| 2:232662881:C:G | H128D | 0.979 |
| 2:232662828:T:A | I110N | 0.978 |
| 2:232672313:T:C | L152P | 0.977 |
| 2:232672438:G:C | A194P | 0.977 |
| 2:232662936:T:A | L146H | 0.974 |
| 2:232662891:T:A | L131Q | 0.973 |
| 2:232672330:G:C | A158P | 0.971 |
dbSNP variants (sampled 300 via entrez): RS1000040665 (2:232635072 G>C,T), RS1000117442 (2:232646963 T>C), RS1000129451 (2:232643410 A>G), RS1000141048 (2:232632328 A>T), RS1000238959 (2:232663802 A>G), RS1000262827 (2:232670924 T>C), RS1000286905 (2:232630782 A>G), RS1000317007 (2:232682380 A>G), RS1000334173 (2:232610616 G>A,T), RS1000410847 (2:232643167 A>G), RS1000444337 (2:232649446 T>C), RS1000479538 (2:232647964 G>A), RS1000483506 (2:232636468 G>A), RS1000518893 (2:232680832 T>A,G), RS1000551012 (2:232670772 A>G)
Disease associations
OMIM: gene MIM:611617 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
17 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001277_12 | Liver enzyme levels (gamma-glutamyl transferase) | 1.000000e-09 |
| GCST002539_44 | Schizophrenia | 2.000000e-12 |
| GCST005998_8 | Alanine transaminase levels | 2.000000e-16 |
| GCST005999_7 | Aspartate aminotransferase levels | 6.000000e-09 |
| GCST006019_46 | Gamma glutamyl transferase levels | 5.000000e-16 |
| GCST006803_9 | Schizophrenia | 4.000000e-16 |
| GCST007201_285 | Schizophrenia | 6.000000e-09 |
| GCST010002_411 | Refractive error | 1.000000e-123 |
| GCST010479_63 | Coronary artery disease | 4.000000e-08 |
| GCST011349_43 | Gamma glutamyl transferase levels | 6.000000e-14 |
| GCST011352_19 | Alanine aminotransferase levels | 2.000000e-20 |
| GCST90011898_95 | Alanine aminotransferase levels | 4.000000e-50 |
| GCST90011899_31 | Aspartate aminotransferase levels | 2.000000e-23 |
| GCST90013405_68 | Liver enzyme levels (alanine transaminase) | 5.000000e-53 |
| GCST90013407_14 | Liver enzyme levels (gamma-glutamyl transferase) | 6.000000e-49 |
| GCST90013663_72 | Alanine aminotransferase levels | 3.000000e-43 |
| GCST90013664_102 | Aspartate aminotransferase levels | 4.000000e-17 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004532 | serum gamma-glutamyl transferase measurement |
| EFO:0004736 | aspartate aminotransferase measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
67 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, increases expression | 6 |
| sodium arsenite | affects methylation, affects cotreatment, decreases expression, increases abundance, increases expression (+1 more) | 4 |
| bisphenol A | decreases expression, decreases methylation | 3 |
| Resveratrol | affects cotreatment, decreases expression | 2 |
| Benzo(a)pyrene | affects methylation, increases methylation | 2 |
| Cisplatin | affects expression, decreases expression | 2 |
| Silicon Dioxide | decreases expression, decreases methylation | 2 |
| Tobacco Smoke Pollution | decreases expression, increases expression | 2 |
| Genistein | affects cotreatment, affects expression, increases expression, increases reaction | 2 |
| aristolochic acid I | decreases expression | 1 |
| dicrotophos | increases expression | 1 |
| 2,4,6-tribromophenol | increases expression | 1 |
| daidzein | affects cotreatment, affects expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| propionaldehyde | increases expression | 1 |
| decabromobiphenyl ether | decreases expression | 1 |
| daidzin | affects expression, affects cotreatment | 1 |
| sulforaphane | decreases expression | 1 |
| butyraldehyde | increases expression | 1 |
| tetrabromobisphenol A | increases expression | 1 |
| tobacco tar | decreases expression | 1 |
| manganese chloride | decreases expression, increases abundance, affects cotreatment | 1 |
| benzo(e)pyrene | decreases methylation | 1 |
| potassium chromate(VI) | increases expression | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | decreases expression, affects cotreatment | 1 |
| genistin | affects cotreatment, affects expression | 1 |
| pentanal | increases expression | 1 |
| cordycepin | decreases expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| glycitein | affects cotreatment, affects expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.