GEM
gene geneOn this page
Also known as KIR
Summary
GEM (GTP binding protein overexpressed in skeletal muscle, HGNC:4234) is a protein-coding gene on chromosome 8q22.1, encoding GTP-binding protein GEM (P55040). Could be a regulatory protein, possibly participating in receptor-mediated signal transduction at the plasma membrane.
The protein encoded by this gene belongs to the RAD/GEM family of GTP-binding proteins. It is associated with the inner face of the plasma membrane and could play a role as a regulatory protein in receptor-mediated signal transduction. Alternative splicing occurs at this locus and two transcript variants encoding the same protein have been identified.
Source: NCBI Gene 2669 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 49 total
- MANE Select transcript:
NM_005261
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:4234 |
| Approved symbol | GEM |
| Name | GTP binding protein overexpressed in skeletal muscle |
| Location | 8q22.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIR |
| Ensembl gene | ENSG00000164949 |
| Ensembl biotype | protein_coding |
| OMIM | 600164 |
| Entrez | 2669 |
Gene structure
Transcript identifiers
Ensembl transcripts: 18 — 16 protein_coding, 2 retained_intron
ENST00000297596, ENST00000396194, ENST00000521817, ENST00000523433, ENST00000523660, ENST00000893822, ENST00000893823, ENST00000893824, ENST00000893825, ENST00000893826, ENST00000893827, ENST00000893828, ENST00000893829, ENST00000893830, ENST00000893831, ENST00000969492, ENST00000969493, ENST00000969494
RefSeq mRNA: 2 — MANE Select: NM_005261
NM_005261, NM_181702
CCDS: CCDS6261
Canonical transcript exons
ENST00000297596 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001088910 | 94253036 | 94253112 |
| ENSE00001088911 | 94262090 | 94262319 |
| ENSE00001088912 | 94260173 | 94260512 |
| ENSE00001088914 | 94252019 | 94252223 |
| ENSE00002114213 | 94249253 | 94250587 |
Expression profiles
Bgee: expression breadth ubiquitous, 278 present calls, max score 99.38.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.9844 / max 919.3369, expressed in 1309 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 93983 | 12.5517 | 1307 |
| 93982 | 0.4326 | 207 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| pigmented layer of retina | UBERON:0001782 | 99.38 | gold quality |
| retina | UBERON:0000966 | 99.35 | gold quality |
| blood vessel layer | UBERON:0004797 | 99.27 | gold quality |
| gall bladder | UBERON:0002110 | 99.23 | gold quality |
| cauda epididymis | UBERON:0004360 | 98.76 | gold quality |
| vena cava | UBERON:0004087 | 98.45 | gold quality |
| mucosa of stomach | UBERON:0001199 | 98.11 | gold quality |
| ascending aorta | UBERON:0001496 | 98.09 | gold quality |
| right coronary artery | UBERON:0001625 | 98.09 | gold quality |
| thoracic aorta | UBERON:0001515 | 98.03 | gold quality |
| cartilage tissue | UBERON:0002418 | 97.71 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 97.30 | gold quality |
| mucosa of urinary bladder | UBERON:0001259 | 97.02 | gold quality |
| secondary oocyte | CL:0000655 | 96.85 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 96.82 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 96.82 | gold quality |
| aorta | UBERON:0000947 | 96.81 | gold quality |
| saphenous vein | UBERON:0007318 | 96.42 | gold quality |
| left uterine tube | UBERON:0001303 | 96.05 | gold quality |
| popliteal artery | UBERON:0002250 | 95.90 | gold quality |
| tibial artery | UBERON:0007610 | 95.89 | gold quality |
| artery | UBERON:0001637 | 95.85 | gold quality |
| left coronary artery | UBERON:0001626 | 95.84 | gold quality |
| urethra | UBERON:0000057 | 95.73 | gold quality |
| mammary duct | UBERON:0001765 | 95.53 | gold quality |
| coronary artery | UBERON:0001621 | 95.52 | gold quality |
| endocervix | UBERON:0000458 | 95.51 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 94.61 | gold quality |
| pericardium | UBERON:0002407 | 94.57 | gold quality |
| omental fat pad | UBERON:0010414 | 94.57 | gold quality |
Single-cell (SCXA)
Detected in 10 experiment(s), a significant marker in 9.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-135922 | yes | 51.49 |
| E-MTAB-6701 | yes | 44.75 |
| E-MTAB-10287 | yes | 44.39 |
| E-CURD-122 | yes | 12.33 |
| E-MTAB-5061 | yes | 11.89 |
| E-MTAB-6678 | yes | 10.90 |
| E-GEOD-81547 | yes | 10.06 |
| E-MTAB-10553 | yes | 7.29 |
| E-MTAB-8060 | no | 53.27 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
76 targeting GEM, 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-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-4534 | 99.99 | 66.58 | 1907 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-507 | 99.97 | 70.11 | 1915 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-557 | 99.96 | 70.01 | 1640 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-8082 | 99.95 | 67.27 | 1170 |
| HSA-MIR-128-3P | 99.95 | 71.17 | 2484 |
| HSA-MIR-216A-3P | 99.95 | 71.19 | 2505 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| 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-450B-5P | 99.92 | 71.48 | 3175 |
| HSA-MIR-589-3P | 99.91 | 69.62 | 2088 |
Literature-anchored findings (GeneRIF, showing 13)
- We discuss the structural and functional properties of RGK proteins and highlight recent work addressing the mechanism of Gem regulation by calmodulin and 14-3-3. (PMID:16242932)
- crystallographic structure and biochemical characterization indicate that Gem G-domain markedly prefers GDP over GTP (PMID:17052716)
- Gem is a bona fide GTPase that exhibits striking structural and biochemical features that should impact its regulation and cellular activities (PMID:17107948)
- GEM plays a key role during C. pneumoniae entry into human cells. (PMID:20233927)
- Gem contains two candidate inhibitory sites, each capable of producing full inhibition of P/Q-type Ca(2+) channels. (PMID:22589533)
- Data show a mechanism by which GTPase Gem contributes to the mitotic progression by maintaining correct spindle length through the kinesin Kif9. (PMID:22964304)
- Gem is involved both in T-cell spontaneous cell migration as well as chemotaxis and plays an important role in cell-to-cell HTLV-1 viral transmission. (PMID:24586148)
- Down regulation of Gem expression was involved in the pathogenesis of hepatocellular carcinoma (HCC), and it might be a favorable independent prognostic parameter for HCC. (PMID:25155751)
- These findings demonstrate a new role of Gem/Gmip/RhoA signaling in cortical actin regulation during early mitotic stages. (PMID:25173885)
- GEM and PPP1R13L were predicted as novel genes which may act as potential target or biomarkers of obesity as they occur with other 21 target genes with known obesity relationship. (PMID:31013288)
- Ras-like Gem GTPase induced by Npas4 promotes activity-dependent neuronal tolerance for ischemic stroke. (PMID:34349016)
- Direct inhibition of CaV2.3 by Gem is dynamin dependent and does not require a direct alfa/beta interaction. (PMID:34837834)
- Decreased expression of GEM in osteoarthritis cartilage regulates chondrogenic differentiation via Wnt/beta-catenin signaling. (PMID:37794464)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | gem | ENSDARG00000029112 |
| mus_musculus | Gem | ENSMUSG00000028214 |
| rattus_norvegicus | Gem | ENSRNOG00000015160 |
Paralogs (35): RALA (ENSG00000006451), REM1 (ENSG00000088320), RASL10A (ENSG00000100276), RASD2 (ENSG00000100302), RASL12 (ENSG00000103710), RHEB (ENSG00000106615), RASD1 (ENSG00000108551), RERGL (ENSG00000111404), RAP1A (ENSG00000116473), RASL11A (ENSG00000122035), RAP2C (ENSG00000123728), RAP2A (ENSG00000125249), RRAS (ENSG00000126458), RAP1B (ENSG00000127314), RASL11B (ENSG00000128045), KRAS (ENSG00000133703), RRAS2 (ENSG00000133818), RERG (ENSG00000134533), REM2 (ENSG00000139890), RIT1 (ENSG00000143622), RALB (ENSG00000144118), RIT2 (ENSG00000152214), MRAS (ENSG00000158186), DIRAS3 (ENSG00000162595), DIRAS2 (ENSG00000165023), RRAD (ENSG00000166592), RHEBL1 (ENSG00000167550), NKIRAS2 (ENSG00000168256), HRAS (ENSG00000174775), DIRAS1 (ENSG00000176490), RAP2B (ENSG00000181467), ERAS (ENSG00000187682), NKIRAS1 (ENSG00000197885), NRAS (ENSG00000213281), RASL10B (ENSG00000270885)
Protein
Protein identifiers
GTP-binding protein GEM — P55040 (reviewed: P55040)
Alternative names: GTP-binding mitogen-induced T-cell protein, RAS-like protein KIR
All UniProt accessions (2): E5RJF9, P55040
UniProt curated annotations — full annotation on UniProt →
Function. Could be a regulatory protein, possibly participating in receptor-mediated signal transduction at the plasma membrane. Has guanine nucleotide-binding activity but undetectable intrinsic GTPase activity.
Subunit / interactions. Interacts with calmodulin in a Ca(2+)-dependent manner. Binds ROCK1.
Subcellular location. Cell membrane.
Tissue specificity. Most abundant in thymus, spleen, kidney, lung, and testis. Less abundant in heart, brain, liver and skeletal muscle.
Post-translational modifications. Phosphorylated on tyrosine residues.
Induction. By mitogens.
Similarity. Belongs to the small GTPase superfamily. RGK family.
RefSeq proteins (2): NP_005252, NP_859053 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001806 | Small_GTPase | Family |
| IPR005225 | Small_GTP-bd | Domain |
| IPR017358 | RGK | Family |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
| IPR051641 | RGK_GTP-binding_reg | Family |
Pfam: PF00071
UniProt features (28 total): helix 9, strand 6, region of interest 3, turn 3, binding site 2, sequence conflict 2, chain 1, compositionally biased region 1, sequence variant 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2CJW | X-RAY DIFFRACTION | 2.1 |
| 2G3Y | X-RAY DIFFRACTION | 2.4 |
| 2HT6 | X-RAY DIFFRACTION | 2.4 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P55040-F1 | 72.50 | 0.42 |
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 (2): 82–89; 191–194
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-9768919 | NPAS4 regulates expression of target genes |
MSigDB gene sets: 461 (showing top):
GSE45365_NK_CELL_VS_BCELL_UP, ATF_B, GOBP_CHROMOSOME_ORGANIZATION, MODULE_255, YAO_HOXA10_TARGETS_VIA_PROGESTERONE_UP, ENK_UV_RESPONSE_KERATINOCYTE_UP, GOBP_CHROMOSOME_LOCALIZATION, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, MODULE_317, CREBP1_Q2, SARRIO_EPITHELIAL_MESENCHYMAL_TRANSITION_DN, NAGASHIMA_NRG1_SIGNALING_UP, CAGCTG_AP4_Q5, GRANDVAUX_IRF3_TARGETS_DN
GO Biological Process (7): mitotic cell cycle (GO:0000278), immune response (GO:0006955), signal transduction (GO:0007165), cell surface receptor signaling pathway (GO:0007166), chromosome organization (GO:0051276), metaphase chromosome alignment (GO:0051310), negative regulation of high voltage-gated calcium channel activity (GO:1901842)
GO Molecular Function (8): magnesium ion binding (GO:0000287), GTPase activity (GO:0003924), calcium channel regulator activity (GO:0005246), calmodulin binding (GO:0005516), GTP binding (GO:0005525), GDP binding (GO:0019003), nucleotide binding (GO:0000166), protein binding (GO:0005515)
GO Cellular Component (7): nucleus (GO:0005634), plasma membrane (GO:0005886), cytoplasmic side of plasma membrane (GO:0009898), midbody (GO:0030496), spindle midzone (GO:0051233), mitotic spindle (GO:0072686), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Transcriptional Regulation by NPAS4 | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| guanyl ribonucleotide binding | 2 |
| spindle | 2 |
| cell cycle | 1 |
| mitotic nuclear division | 1 |
| immune system process | 1 |
| response to stimulus | 1 |
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| signal transduction | 1 |
| organelle organization | 1 |
| chromosome localization | 1 |
| nuclear chromosome segregation | 1 |
| high voltage-gated calcium channel activity | 1 |
| negative regulation of voltage-gated calcium channel activity | 1 |
| metal ion binding | 1 |
| ribonucleoside triphosphate phosphatase activity | 1 |
| calcium channel activity | 1 |
| ion channel regulator activity | 1 |
| protein binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| anion binding | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| membrane | 1 |
| cell periphery | 1 |
| plasma membrane | 1 |
| cytoplasmic side of membrane | 1 |
Protein interactions and networks
STRING
1905 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| GEM | KIF9 | Q9HAQ2 | 911 |
| GEM | KIR2DL1 | P43626 | 562 |
| GEM | GPATCH11 | Q8N954 | 510 |
| GEM | CALM1 | P02593 | 477 |
| GEM | CALML4 | Q96GE6 | 472 |
| GEM | CALML6 | Q8TD86 | 460 |
| GEM | CALML3 | P27482 | 459 |
| GEM | CALML5 | Q9NZT1 | 459 |
| GEM | HERC1 | Q15751 | 426 |
| GEM | KCNMA1 | Q12791 | 403 |
| GEM | SNX5 | Q9Y5X3 | 349 |
| GEM | MDN1 | Q9NU22 | 339 |
| GEM | MPP7 | Q5T2T1 | 298 |
| GEM | FHL1 | Q13642 | 296 |
| GEM | FRMPD2 | Q68DX3 | 291 |
IntAct
435 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TRIM23 | GEM | psi-mi:“MI:0915”(physical association) | 0.820 |
| TFIP11 | GEM | psi-mi:“MI:0915”(physical association) | 0.780 |
| GEM | TFIP11 | psi-mi:“MI:0915”(physical association) | 0.780 |
| PDLIM7 | GEM | psi-mi:“MI:0915”(physical association) | 0.740 |
| GEM | AHCYL1 | psi-mi:“MI:0915”(physical association) | 0.720 |
| GEM | TRIM27 | psi-mi:“MI:0915”(physical association) | 0.720 |
| GEM | KRTAP10-7 | psi-mi:“MI:0915”(physical association) | 0.720 |
| GOLGA2 | GEM | psi-mi:“MI:0915”(physical association) | 0.720 |
| TRAF1 | GEM | psi-mi:“MI:0915”(physical association) | 0.720 |
| KRT31 | GEM | psi-mi:“MI:0915”(physical association) | 0.720 |
| KCTD9 | GEM | psi-mi:“MI:0915”(physical association) | 0.720 |
| GEM | INO80E | psi-mi:“MI:0915”(physical association) | 0.720 |
| LZTS2 | GEM | psi-mi:“MI:0915”(physical association) | 0.720 |
| GEM | BLZF1 | psi-mi:“MI:0915”(physical association) | 0.720 |
| IKZF3 | GEM | psi-mi:“MI:0915”(physical association) | 0.720 |
| AHCYL1 | GEM | psi-mi:“MI:0915”(physical association) | 0.720 |
| GEM | GOLGA2 | psi-mi:“MI:0915”(physical association) | 0.720 |
| GEM | TRAF1 | psi-mi:“MI:0915”(physical association) | 0.720 |
| GEM | KCTD9 | psi-mi:“MI:0915”(physical association) | 0.720 |
| INO80E | GEM | psi-mi:“MI:0915”(physical association) | 0.720 |
BioGRID (164): GOLGA2 (Two-hybrid), KRT31 (Two-hybrid), TRIM27 (Two-hybrid), TCF4 (Two-hybrid), TRAF1 (Two-hybrid), BLZF1 (Two-hybrid), PNMA1 (Two-hybrid), AHCYL1 (Two-hybrid), RUNDC3A (Two-hybrid), IKZF3 (Two-hybrid), TFIP11 (Two-hybrid), KCTD9 (Two-hybrid), TRIM54 (Two-hybrid), CCDC102B (Two-hybrid), COG8 (Two-hybrid)
ESM2 similar proteins: A1DZY4, A6QP66, O35626, O35929, O88910, O88954, P0C0E4, P35295, P51157, P51158, P53667, P53668, P53669, P55040, P55041, P55043, P63032, P63033, Q06AU5, Q12829, Q13368, Q13637, Q3SWY9, Q5E9J3, Q5FVY2, Q5R541, Q5RFI2, Q6DGN0, Q6IMA3, Q6IMA7, Q6IMB1, Q6P0U3, Q6T310, Q8AVS6, Q8IYK8, Q8QFP8, Q8VEL9, Q8VHP8, Q8VHQ4, Q8WXH6
Diamond homologs: A1L1L6, F4J0W4, O59781, P0CO78, P0CO79, P31021, P34148, P34150, P39722, P55040, P55041, Q298L5, Q2HJF8, Q2UM43, Q32LU1, Q4I2W2, Q4PB75, Q4WN24, Q55G45, Q5ABR2, Q5B5L3, Q5E9M9, Q5R541, Q5ZM73, Q5ZM83, Q623S8, Q6C2J1, Q6CY37, Q6DIS1, Q6FIR8, Q6NVC5, Q758X6, Q7RZA2, Q7TSA0, Q864R5, Q8BG51, Q8IMX7, Q8IXI1, Q8IXI2, Q8JZN7
SIGNOR signaling
18 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| GEM | “down-regulates activity” | CACNB2 | binding |
| GEM | “down-regulates activity” | ROCK2 | binding |
| CALM1 | “up-regulates activity” | GEM | binding |
| CALM2 | “up-regulates activity” | GEM | binding |
| CALM3 | “up-regulates activity” | GEM | binding |
| YWHAG | “up-regulates quantity by stabilization” | GEM | binding |
| YWHAQ | “up-regulates quantity by stabilization” | GEM | binding |
| YWHAZ | “up-regulates quantity by stabilization” | GEM | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 88 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.
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| intermediate filament organization | 5 | 15.8× | 9e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
49 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 34 |
| Likely benign | 2 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
0 predictions. Top by Δscore:
AlphaMissense
1959 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 8:94250539:G:A | S221F | 1.000 |
| 8:94250585:C:A | G206W | 1.000 |
| 8:94250585:C:G | G206R | 1.000 |
| 8:94250585:C:T | G206R | 1.000 |
| 8:94252051:T:C | D194G | 1.000 |
| 8:94252056:T:A | K192N | 1.000 |
| 8:94252056:T:G | K192N | 1.000 |
| 8:94252057:T:A | K192I | 1.000 |
| 8:94252063:C:T | G190D | 1.000 |
| 8:94252066:A:T | V189D | 1.000 |
| 8:94252140:G:C | S164R | 1.000 |
| 8:94252140:G:T | S164R | 1.000 |
| 8:94252142:T:G | S164R | 1.000 |
| 8:94252160:A:G | S158P | 1.000 |
| 8:94260259:C:T | G82E | 1.000 |
| 8:94260260:C:A | G82W | 1.000 |
| 8:94250479:A:G | L241P | 0.999 |
| 8:94250482:C:G | R240P | 0.999 |
| 8:94250491:C:G | R237P | 0.999 |
| 8:94250501:C:G | G234R | 0.999 |
| 8:94250539:G:T | S221Y | 0.999 |
| 8:94250540:A:G | S221P | 0.999 |
| 8:94250550:G:C | F217L | 0.999 |
| 8:94250550:G:T | F217L | 0.999 |
| 8:94250552:A:G | F217L | 0.999 |
| 8:94250556:G:C | C215W | 0.999 |
| 8:94250557:C:T | C215Y | 0.999 |
| 8:94250558:A:G | C215R | 0.999 |
| 8:94250572:G:T | A210E | 0.999 |
| 8:94250573:C:G | A210P | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000203951 (8:94250109 C>A), RS1000230939 (8:94249230 G>A), RS1000328112 (8:94256293 TC>T), RS1000328441 (8:94262964 G>T), RS1000382830 (8:94262363 C>A,T), RS1000699755 (8:94256503 G>A), RS1000917685 (8:94261410 G>A,C,T), RS1001045851 (8:94255549 C>T), RS1001642594 (8:94258012 T>C), RS1001717806 (8:94258301 C>T), RS1001745189 (8:94261694 A>G,T), RS1001873012 (8:94252086 C>A,G,T), RS1002006318 (8:94261977 C>A), RS1002030620 (8:94264297 T>A,C), RS1002284407 (8:94251641 C>T)
Disease associations
OMIM: gene MIM:600164 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004162_31 | Carotid plaque burden | 4.000000e-06 |
| GCST005196_161 | Coronary artery disease | 1.000000e-06 |
| GCST007269_224 | Pulse pressure | 5.000000e-11 |
| GCST010866_131 | Coronary artery disease | 1.000000e-09 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006501 | carotid plaque build |
| EFO:0005763 | pulse pressure measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
108 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Estradiol | affects cotreatment, increases expression, decreases expression, decreases reaction | 6 |
| bisphenol A | increases expression, affects cotreatment | 4 |
| Silicon Dioxide | increases expression | 4 |
| sodium arsenite | decreases expression, increases expression | 3 |
| Acetaminophen | increases expression, affects response to substance | 3 |
| Methotrexate | affects cotreatment, increases expression, decreases expression | 3 |
| Valproic Acid | affects expression, increases expression | 3 |
| Cyclosporine | increases expression | 3 |
| Aflatoxin B1 | affects expression, increases expression | 3 |
| Asbestos, Crocidolite | affects expression, increases expression | 3 |
| trichostatin A | affects expression, decreases reaction, decreases expression, increases expression | 2 |
| torcetrapib | increases expression | 2 |
| (+)-JQ1 compound | affects cotreatment, affects expression, decreases expression | 2 |
| Benzo(a)pyrene | increases expression, increases methylation | 2 |
| Calcitriol | increases expression | 2 |
| Copper | decreases expression, increases expression, affects binding | 2 |
| Dexamethasone | decreases expression, affects cotreatment, increases expression | 2 |
| Doxorubicin | affects expression, decreases expression | 2 |
| Phenylmercuric Acetate | decreases expression, affects cotreatment | 2 |
| Tobacco Smoke Pollution | affects expression, increases expression | 2 |
| Cadmium Chloride | increases expression | 2 |
| Thapsigargin | increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| bisphenol F | affects cotreatment, increases expression | 1 |
| methylmercuric chloride | increases expression | 1 |
| methyleugenol | increases expression | 1 |
| senecionine | increases expression | 1 |
| senkirkine | increases expression | 1 |
| heliotrine | increases expression | 1 |
| 2-methyl-4-isothiazolin-3-one | 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.