CKMT2
gene geneOn this page
Also known as SMTCK
Summary
CKMT2 (creatine kinase, mitochondrial 2, HGNC:1996) is a protein-coding gene on chromosome 5q14.1, encoding Creatine kinase S-type, mitochondrial (P17540). Reversibly catalyzes the transfer of phosphate between ATP and various phosphogens (e.g. creatine phosphate).
Mitochondrial creatine kinase (MtCK) is responsible for the transfer of high energy phosphate from mitochondria to the cytosolic carrier, creatine. It belongs to the creatine kinase isoenzyme family. It exists as two isoenzymes, sarcomeric MtCK and ubiquitous MtCK, encoded by separate genes. Mitochondrial creatine kinase occurs in two different oligomeric forms: dimers and octamers, in contrast to the exclusively dimeric cytosolic creatine kinase isoenzymes. Sarcomeric mitochondrial creatine kinase has 80% homology with the coding exons of ubiquitous mitochondrial creatine kinase. This gene contains sequences homologous to several motifs that are shared among some nuclear genes encoding mitochondrial proteins and thus may be essential for the coordinated activation of these genes during mitochondrial biogenesis. Three transcript variants encoding the same protein have been found for this gene.
Source: NCBI Gene 1160 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 69 total
- MANE Select transcript:
NM_001099735
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:1996 |
| Approved symbol | CKMT2 |
| Name | creatine kinase, mitochondrial 2 |
| Location | 5q14.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | SMTCK |
| Ensembl gene | ENSG00000131730 |
| Ensembl biotype | protein_coding |
| OMIM | 123295 |
| Entrez | 1160 |
Gene structure
Transcript identifiers
Ensembl transcripts: 32 — 25 protein_coding, 4 retained_intron, 3 protein_coding_CDS_not_defined
ENST00000254035, ENST00000424301, ENST00000437669, ENST00000505060, ENST00000505135, ENST00000505704, ENST00000505850, ENST00000511719, ENST00000513094, ENST00000514086, ENST00000515238, ENST00000515615, ENST00000865071, ENST00000865072, ENST00000865073, ENST00000865074, ENST00000865075, ENST00000865076, ENST00000865077, ENST00000865078, ENST00000865079, ENST00000865080, ENST00000865081, ENST00000865082, ENST00000928885, ENST00000953985, ENST00000953986, ENST00000953987, ENST00000953988, ENST00000953989, ENST00000953990, ENST00000953991
RefSeq mRNA: 3 — MANE Select: NM_001099735
NM_001099735, NM_001099736, NM_001825
CCDS: CCDS4053
Canonical transcript exons
ENST00000254035 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002084591 | 81233322 | 81233377 |
| ENSE00003467440 | 81256915 | 81257000 |
| ENSE00003517584 | 81259120 | 81259254 |
| ENSE00003566751 | 81263491 | 81263616 |
| ENSE00003620308 | 81257733 | 81257856 |
| ENSE00003626877 | 81254396 | 81254491 |
| ENSE00003685343 | 81254993 | 81255214 |
| ENSE00003689398 | 81252695 | 81252893 |
| ENSE00003692514 | 81251113 | 81251284 |
| ENSE00003843914 | 81266139 | 81266398 |
Expression profiles
Bgee: expression breadth ubiquitous, 232 present calls, max score 99.77.
FANTOM5 (CAGE): breadth broad, TPM avg 13.4370 / max 1473.3802, expressed in 447 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 57341 | 13.3283 | 446 |
| 57340 | 0.1087 | 41 |
Top tissues by expression
282 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| heart right ventricle | UBERON:0002080 | 99.77 | gold quality |
| apex of heart | UBERON:0002098 | 99.74 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 99.68 | gold quality |
| cardiac ventricle | UBERON:0002082 | 99.55 | gold quality |
| heart left ventricle | UBERON:0002084 | 99.55 | gold quality |
| right atrium auricular region | UBERON:0006631 | 99.44 | gold quality |
| myocardium | UBERON:0002349 | 99.43 | gold quality |
| gastrocnemius | UBERON:0001388 | 99.42 | gold quality |
| cardiac atrium | UBERON:0002081 | 99.41 | gold quality |
| biceps brachii | UBERON:0001507 | 99.40 | gold quality |
| diaphragm | UBERON:0001103 | 99.39 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 99.39 | gold quality |
| vastus lateralis | UBERON:0001379 | 99.37 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 99.35 | gold quality |
| quadriceps femoris | UBERON:0001377 | 99.31 | gold quality |
| triceps brachii | UBERON:0001509 | 99.27 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 99.21 | gold quality |
| deltoid | UBERON:0001476 | 99.17 | gold quality |
| gluteal muscle | UBERON:0002000 | 99.12 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 99.12 | gold quality |
| body of tongue | UBERON:0011876 | 99.07 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 99.01 | gold quality |
| tibialis anterior | UBERON:0001385 | 98.77 | gold quality |
| muscle organ | UBERON:0001630 | 98.73 | gold quality |
| skeletal muscle organ | UBERON:0014892 | 98.73 | gold quality |
| muscle of leg | UBERON:0001383 | 98.52 | gold quality |
| heart | UBERON:0000948 | 98.05 | gold quality |
| vena cava | UBERON:0004087 | 97.89 | gold quality |
| muscle tissue | UBERON:0002385 | 97.70 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 94.37 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 6.11 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): MYOD1
miRNA regulators (miRDB)
18 targeting CKMT2, 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-12118 | 100.00 | 65.88 | 1270 |
| HSA-MIR-6891-5P | 99.98 | 66.53 | 1372 |
| HSA-MIR-3173-3P | 99.98 | 66.49 | 1217 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-4428 | 99.73 | 66.41 | 1733 |
| HSA-MIR-4530 | 99.69 | 66.47 | 1509 |
| HSA-MIR-7849-3P | 99.47 | 68.17 | 1224 |
| HSA-MIR-1324 | 99.46 | 66.57 | 1302 |
| HSA-MIR-940 | 99.37 | 66.14 | 2064 |
| HSA-MIR-6808-5P | 99.31 | 66.23 | 2150 |
| HSA-MIR-6893-5P | 99.31 | 66.25 | 2119 |
| HSA-MIR-4477B | 99.23 | 70.49 | 1733 |
| HSA-MIR-4477A | 98.83 | 69.75 | 2952 |
| HSA-MIR-654-3P | 98.38 | 67.61 | 905 |
| HSA-MIR-3166 | 98.24 | 66.63 | 1223 |
| HSA-MIR-634 | 97.74 | 67.11 | 818 |
| HSA-MIR-5192 | 96.89 | 63.35 | 879 |
| HSA-MIR-4330 | 95.44 | 66.39 | 993 |
Literature-anchored findings (GeneRIF, showing 6)
- three C-terminal lysines determine high affinity sMtCK/cardiolipin interaction and its effects on MtCK structure, whereas low level binding and some effect on membrane fluidity depend on other structural components (PMID:15044463)
- After the training period, intracellular energetic units had a higher control of mitochondrial respiration by creatine linked to a more efficient functional coupling adenine nucleotide translocase-mitochondrial creatine kinase. (PMID:16020522)
- CK2alpha has a role in progression of acute myeloid leukemia (PMID:17289898)
- These findings support increased CK activity as protection against ischaemia-reperfusion injury, in particular, protection via CKMT2 in a cardiac-relevant cell line, which merits further investigation in vivo. (PMID:28806770)
- Prognostic value of mitochondrial CKMT2 in Pan-cancer and its tumor immune correlation analysis. (PMID:38172162)
- Decreased mitochondrial creatine kinase 2 impairs skeletal muscle mitochondrial function independently of insulin in type 2 diabetes. (PMID:39383244)
Cross-species orthologs
13 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ckmt2b | ENSDARG00000039929 |
| danio_rerio | ckmt2a | ENSDARG00000069615 |
| mus_musculus | Ckmt2 | ENSMUSG00000021622 |
| rattus_norvegicus | Ckmt2 | ENSRNOG00000055450 |
| drosophila_melanogaster | Argk1 | FBGN0000116 |
| drosophila_melanogaster | Argk2 | FBGN0035957 |
| drosophila_melanogaster | CG4546 | FBGN0038373 |
| drosophila_melanogaster | CG30274 | FBGN0050274 |
| caenorhabditis_elegans | WBGENE00009706 | |
| caenorhabditis_elegans | ZC434.8 | WBGENE00013894 |
| caenorhabditis_elegans | F32B5.1 | WBGENE00017975 |
| caenorhabditis_elegans | WBGENE00018519 | |
| caenorhabditis_elegans | W10C8.5 | WBGENE00021128 |
Paralogs (4): CKM (ENSG00000104879), CKB (ENSG00000166165), CKMT1A (ENSG00000223572), CKMT1B (ENSG00000237289)
Protein
Protein identifiers
Creatine kinase S-type, mitochondrial — P17540 (reviewed: P17540)
Alternative names: Basic-type mitochondrial creatine kinase, Sarcomeric mitochondrial creatine kinase
All UniProt accessions (3): D6R998, D6RHV3, P17540
UniProt curated annotations — full annotation on UniProt →
Function. Reversibly catalyzes the transfer of phosphate between ATP and various phosphogens (e.g. creatine phosphate). Creatine kinase isoenzymes play a central role in energy transduction in tissues with large, fluctuating energy demands, such as skeletal muscle, heart, brain and spermatozoa.
Subunit / interactions. Exists as an octamer composed of four CKMT2 homodimers.
Subcellular location. Mitochondrion inner membrane.
Tissue specificity. Sarcomere-specific. Found only in heart and skeletal muscles.
Miscellaneous. Mitochondrial creatine kinase binds cardiolipin.
Similarity. Belongs to the ATP:guanido phosphotransferase family.
RefSeq proteins (3): NP_001093205, NP_001093206, NP_001816 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000749 | ATP-guanido_PTrfase | Family |
| IPR014746 | Gln_synth/guanido_kin_cat_dom | Homologous_superfamily |
| IPR022413 | ATP-guanido_PTrfase_N | Domain |
| IPR022414 | ATP-guanido_PTrfase_cat | Domain |
| IPR022415 | ATP-guanido_PTrfase_AS | Active_site |
| IPR036802 | ATP-guanido_PTrfase_N_sf | Homologous_superfamily |
Pfam: PF00217, PF02807
Catalyzed reactions (Rhea), 1 shown:
- creatine + ATP = N-phosphocreatine + ADP + H(+) (RHEA:17157)
UniProt features (47 total): helix 18, strand 9, binding site 6, turn 6, modified residue 2, domain 2, transit peptide 1, chain 1, sequence conflict 1, region of interest 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 4Z9M | X-RAY DIFFRACTION | 2.1 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P17540-F1 | 89.80 | 0.78 |
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 (6): 369; 162–166; 225; 270; 326; 354–359
Post-translational modifications (2): 255, 356
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-71288 | Creatine metabolism |
| R-HSA-1430728 | Metabolism |
| R-HSA-71291 | Metabolism of amino acids and derivatives |
MSigDB gene sets: 132 (showing top):
MODULE_493, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, MEF2_02, MODULE_329, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GNF2_MYL3, GOBP_MUSCLE_CONTRACTION, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM4, GOCC_MITOCHONDRIAL_ENVELOPE, GARCIA_TARGETS_OF_FLI1_AND_DAX1_DN, MODULE_284, LEE_LIVER_CANCER_ACOX1_DN, GOBP_MUSCLE_SYSTEM_PROCESS, VECCHI_GASTRIC_CANCER_EARLY_DN, MODULE_387
GO Biological Process (2): muscle contraction (GO:0006936), phosphocreatine biosynthetic process (GO:0046314)
GO Molecular Function (8): creatine kinase activity (GO:0004111), ATP binding (GO:0005524), nucleotide binding (GO:0000166), catalytic activity (GO:0003824), protein binding (GO:0005515), kinase activity (GO:0016301), transferase activity (GO:0016740), transferase activity, transferring phosphorus-containing groups (GO:0016772)
GO Cellular Component (3): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Metabolism of amino acids and derivatives | 1 |
| Metabolism | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| muscle system process | 1 |
| phosphocreatine metabolic process | 1 |
| phosphagen biosynthetic process | 1 |
| kinase activity | 1 |
| phosphotransferase activity, nitrogenous group as acceptor | 1 |
| adenyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| molecular_function | 1 |
| binding | 1 |
| transferase activity, transferring phosphorus-containing groups | 1 |
| catalytic activity | 1 |
| transferase activity | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| organelle inner membrane | 1 |
| mitochondrial membrane | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1216 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CKMT2 | LDHAL6A | Q6ZMR3 | 733 |
| CKMT2 | LDHAL6B | Q9BYZ2 | 732 |
| CKMT2 | LDHC | P07864 | 686 |
| CKMT2 | GOT1L1 | Q8NHS2 | 618 |
| CKMT2 | LDHA | P00338 | 565 |
| CKMT2 | GAMT | Q14353 | 530 |
| CKMT2 | GOT1 | P17174 | 528 |
| CKMT2 | SLC6A8 | P48029 | 511 |
| CKMT2 | GATM | P50440 | 471 |
| CKMT2 | AK1 | P00568 | 463 |
| CKMT2 | GGT6 | Q6P531 | 447 |
| CKMT2 | GOT2 | P00505 | 435 |
| CKMT2 | ALPG | P10696 | 435 |
| CKMT2 | TNNI1 | P19237 | 426 |
| CKMT2 | SDHA | P31040 | 424 |
IntAct
34 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RCAN1 | PPP3CB | psi-mi:“MI:0914”(association) | 0.660 |
| CETN3 | CKMT2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CKMT2 | NRF1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CKMT2 | P4HA3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CKMT2 | KLHL42 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CKMT2 | NME2P1 | psi-mi:“MI:0914”(association) | 0.530 |
| AKR1D1 | DIRAS1 | psi-mi:“MI:0914”(association) | 0.530 |
| CKMT1A | CKMT2 | psi-mi:“MI:0915”(physical association) | 0.500 |
| CKMT2 | CKMT1A | psi-mi:“MI:0914”(association) | 0.500 |
| FER1L6 | CKMT2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| CKMT1A | CKMT2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ELN | CKMT2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| CKMT2 | TMED9 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ABHD6 | CKMT2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| HSCB | RBP5 | psi-mi:“MI:0914”(association) | 0.350 |
| IKZF5 | PEX14 | psi-mi:“MI:0914”(association) | 0.350 |
| LATS1 | ATP2A1 | psi-mi:“MI:0914”(association) | 0.350 |
| TSPAN33 | ATP2A1 | psi-mi:“MI:0914”(association) | 0.350 |
| AP5M1 | HSPA12A | psi-mi:“MI:0914”(association) | 0.350 |
| ASB9 | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| MRPS23 | MYH7B | psi-mi:“MI:0914”(association) | 0.350 |
| CETN3 | CKMT2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| NRF1 | CKMT2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| P4HA3 | CKMT2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| KLHL42 | CKMT2 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (58): CKMT2 (Co-fractionation), CKMT2 (Co-fractionation), HSPE1 (Co-fractionation), CKMT2 (Affinity Capture-MS), CKM (Affinity Capture-MS), NME2P1 (Affinity Capture-MS), CKMT2 (Affinity Capture-MS), CKMT2 (Affinity Capture-MS), OLFML3 (Two-hybrid), CKMT2 (Two-hybrid), LRIF1 (Two-hybrid), UNC119 (Two-hybrid), CKMT2 (Two-hybrid), P4HA3 (Two-hybrid), CETN3 (Two-hybrid)
ESM2 similar proteins: A0A286R7K5, A0A976YI25, A1W3F2, B0FRF9, B1PVZ9, B8I2Z6, B9MCM3, C7E3T4, C9EIP1, G1ESZ9, H6VGI2, H6VGI3, O15989, O15990, O15991, O15992, O61367, O77814, O96507, P00564, P00566, P04414, P05123, P07310, P09605, P11009, P14208, P17540, P18294, P24722, P51541, P51544, P51545, P70079, P91798, Q004B5, Q10454, Q27535, Q39230, Q3ZBP1
Diamond homologs: A0A286R7K5, A0A976YI25, A4J0X5, A5D5K7, A8F953, B0FRF9, B1PVZ9, C1KYG4, C7E3T4, C9EIP1, G1ESZ9, H6VGI2, H6VGI3, O15989, O15990, O15991, O15992, O61367, O77814, O96507, P00563, P00564, P00565, P00566, P00567, P04414, P05122, P05123, P05124, P06732, P07310, P07335, P09605, P11009, P12277, P12532, P14208, P16641, P17540, P18294
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| creatine | “up-regulates activity” | CKMT2 | “chemical activation” |
| CKMT2 | “up-regulates quantity” | N-phosphocreatine | “chemical modification” |
Disease & clinical
Clinical variants and AI predictions
ClinVar
69 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 67 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1540 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 5:81251111:A:AG | acceptor_gain | 1.0000 |
| 5:81251112:G:GG | acceptor_gain | 1.0000 |
| 5:81251112:GAC:G | acceptor_gain | 1.0000 |
| 5:81251281:CAAGG:C | donor_loss | 1.0000 |
| 5:81251282:AAGGT:A | donor_loss | 1.0000 |
| 5:81251283:AGGTA:A | donor_loss | 1.0000 |
| 5:81251284:GGTAA:G | donor_loss | 1.0000 |
| 5:81251285:G:A | donor_loss | 1.0000 |
| 5:81252689:A:AG | acceptor_gain | 1.0000 |
| 5:81252690:C:G | acceptor_gain | 1.0000 |
| 5:81252690:CACA:C | acceptor_loss | 1.0000 |
| 5:81252691:A:AG | acceptor_gain | 1.0000 |
| 5:81252691:ACAGC:A | acceptor_gain | 1.0000 |
| 5:81252692:C:G | acceptor_gain | 1.0000 |
| 5:81252693:A:AG | acceptor_gain | 1.0000 |
| 5:81252693:A:C | acceptor_loss | 1.0000 |
| 5:81252693:AGC:A | acceptor_gain | 1.0000 |
| 5:81252694:G:GG | acceptor_gain | 1.0000 |
| 5:81252694:GC:G | acceptor_gain | 1.0000 |
| 5:81252694:GCG:G | acceptor_gain | 1.0000 |
| 5:81252694:GCGC:G | acceptor_gain | 1.0000 |
| 5:81252694:GCGCA:G | acceptor_gain | 1.0000 |
| 5:81252891:GAG:G | donor_gain | 1.0000 |
| 5:81252894:GTAA:G | donor_loss | 1.0000 |
| 5:81252895:T:A | donor_loss | 1.0000 |
| 5:81254393:CAGGT:C | acceptor_loss | 1.0000 |
| 5:81254395:GGT:G | acceptor_gain | 1.0000 |
| 5:81254487:CAAAG:C | donor_loss | 1.0000 |
| 5:81254488:AAAG:A | donor_loss | 1.0000 |
| 5:81254489:AAGG:A | donor_loss | 1.0000 |
AlphaMissense
2733 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 5:81252823:G:A | G94E | 1.000 |
| 5:81252861:G:C | G107R | 1.000 |
| 5:81252862:G:A | G107D | 1.000 |
| 5:81252871:C:A | A110D | 1.000 |
| 5:81255048:G:A | G168D | 1.000 |
| 5:81255050:C:A | R169S | 1.000 |
| 5:81255053:A:C | S170R | 1.000 |
| 5:81255055:C:A | S170R | 1.000 |
| 5:81255055:C:G | S170R | 1.000 |
| 5:81255099:G:C | R185P | 1.000 |
| 5:81256927:T:C | F228L | 1.000 |
| 5:81256928:T:G | F228C | 1.000 |
| 5:81256929:T:A | F228L | 1.000 |
| 5:81256929:T:G | F228L | 1.000 |
| 5:81256978:T:A | W245R | 1.000 |
| 5:81256978:T:C | W245R | 1.000 |
| 5:81256980:G:C | W245C | 1.000 |
| 5:81256980:G:T | W245C | 1.000 |
| 5:81256991:G:C | R249T | 1.000 |
| 5:81256991:G:T | R249M | 1.000 |
| 5:81256992:G:C | R249S | 1.000 |
| 5:81256992:G:T | R249S | 1.000 |
| 5:81256993:G:A | G250R | 1.000 |
| 5:81256993:G:C | G250R | 1.000 |
| 5:81256994:G:A | G250E | 1.000 |
| 5:81257761:T:A | W262R | 1.000 |
| 5:81257761:T:C | W262R | 1.000 |
| 5:81257769:T:A | N264K | 1.000 |
| 5:81257769:T:G | N264K | 1.000 |
| 5:81257771:A:T | E265V | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000056836 (5:81233483 C>A,T), RS1000191461 (5:81235354 G>A), RS1000196565 (5:81237511 A>C), RS1000351430 (5:81253721 A>C), RS1000525897 (5:81236778 G>A,C), RS1000641679 (5:81236373 A>G), RS1000663812 (5:81243683 A>C), RS1000709745 (5:81242183 T>C), RS1000757882 (5:81231751 G>A), RS1000906862 (5:81259319 G>A), RS1000973339 (5:81265481 G>A,C), RS1001026198 (5:81248624 A>C,G), RS1001255950 (5:81266533 C>T), RS1001267230 (5:81242008 C>A,T), RS1001419805 (5:81236681 T>C)
Disease associations
OMIM: gene MIM:123295 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
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
28 total (human), top 28 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | affects cotreatment, decreases methylation, increases expression, decreases expression | 4 |
| bisphenol F | affects cotreatment, decreases expression, increases expression | 2 |
| Doxorubicin | affects expression, decreases expression | 2 |
| Nickel | decreases expression | 2 |
| triphenyl phosphate | affects expression | 1 |
| terbufos | increases methylation | 1 |
| arsenite | increases methylation | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Fulvestrant | increases methylation, affects cotreatment, decreases methylation | 1 |
| Acetaminophen | decreases expression | 1 |
| Benzo(a)pyrene | increases expression | 1 |
| Cadmium | increases expression, increases abundance | 1 |
| Dexamethasone | decreases expression, affects cotreatment | 1 |
| Fonofos | increases methylation | 1 |
| Indomethacin | affects cotreatment, decreases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Nicotine | decreases expression | 1 |
| Parathion | increases methylation | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Tetrachlorodibenzodioxin | increases expression | 1 |
| Valproic Acid | increases expression | 1 |
| 1-Methyl-3-isobutylxanthine | decreases expression, affects cotreatment | 1 |
| 8-Bromo Cyclic Adenosine Monophosphate | decreases expression | 1 |
| Cyclosporine | increases expression | 1 |
| Cadmium Chloride | increases abundance, increases 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.