GRINA
gene geneOn this page
Also known as HNRGWTMBIM3LFG1
Summary
GRINA (glutamate ionotropic receptor NMDA type subunit associated protein 1, HGNC:4589) is a protein-coding gene on chromosome 8q24.3, encoding Protein lifeguard 1 (Q7Z429). Potential apoptotic regulator.
Predicted to enable calcium channel activity. Predicted to be involved in apoptotic signaling pathway; negative regulation of extrinsic apoptotic signaling pathway via death domain receptors; and negative regulation of neuron apoptotic process. Predicted to act upstream of or within endoplasmic reticulum calcium ion homeostasis and negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway. Located in Golgi membrane.
Source: NCBI Gene 2907 — RefSeq curated summary.
At a glance
- GWAS associations: 7
- Clinical variants (ClinVar): 56 total
- MANE Select transcript:
NM_001009184
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:4589 |
| Approved symbol | GRINA |
| Name | glutamate ionotropic receptor NMDA type subunit associated protein 1 |
| Location | 8q24.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | HNRGW, TMBIM3, LFG1 |
| Ensembl gene | ENSG00000178719 |
| Ensembl biotype | protein_coding |
| OMIM | 138251 |
| Entrez | 2907 |
Gene structure
Transcript identifiers
Ensembl transcripts: 22 — 19 protein_coding, 3 retained_intron
ENST00000313269, ENST00000395068, ENST00000525513, ENST00000527194, ENST00000529301, ENST00000530898, ENST00000531992, ENST00000533044, ENST00000533377, ENST00000534791, ENST00000857578, ENST00000857579, ENST00000857580, ENST00000857581, ENST00000857582, ENST00000857583, ENST00000857584, ENST00000857585, ENST00000857586, ENST00000857587, ENST00000857588, ENST00000857589
RefSeq mRNA: 2 — MANE Select: NM_001009184
NM_000837, NM_001009184
CCDS: CCDS34961
Canonical transcript exons
ENST00000395068 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001319675 | 143991878 | 143992078 |
| ENSE00001320349 | 143991692 | 143991804 |
| ENSE00001423424 | 143991200 | 143991602 |
| ENSE00001432342 | 143992692 | 143993415 |
| ENSE00001520480 | 143990056 | 143990199 |
| ENSE00003460558 | 143992465 | 143992608 |
| ENSE00003790476 | 143992245 | 143992373 |
Expression profiles
Bgee: expression breadth ubiquitous, 281 present calls, max score 99.48.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 354.9275 / max 3901.4089, expressed in 1829 samples.
FANTOM5 promoters (16 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 91438 | 236.8918 | 1829 |
| 91437 | 71.0132 | 1826 |
| 91440 | 14.4910 | 1753 |
| 91439 | 12.7123 | 1761 |
| 91445 | 5.2356 | 1487 |
| 91443 | 2.6791 | 1286 |
| 91446 | 2.5303 | 1272 |
| 91442 | 1.8741 | 901 |
| 91449 | 1.8410 | 987 |
| 91444 | 1.5698 | 785 |
Top tissues by expression
298 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| left testis | UBERON:0004533 | 99.48 | gold quality |
| right testis | UBERON:0004534 | 99.47 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 99.44 | gold quality |
| stromal cell of endometrium | CL:0002255 | 99.40 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 99.28 | gold quality |
| right frontal lobe | UBERON:0002810 | 99.25 | gold quality |
| cerebellar cortex | UBERON:0002129 | 99.23 | gold quality |
| right lobe of liver | UBERON:0001114 | 99.08 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 99.06 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 99.02 | gold quality |
| left adrenal gland | UBERON:0001234 | 99.02 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 99.01 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 99.00 | gold quality |
| right adrenal gland | UBERON:0001233 | 98.99 | gold quality |
| metanephros cortex | UBERON:0010533 | 98.95 | gold quality |
| right lung | UBERON:0002167 | 98.94 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 98.93 | gold quality |
| endocervix | UBERON:0000458 | 98.89 | gold quality |
| omental fat pad | UBERON:0010414 | 98.89 | gold quality |
| peritoneum | UBERON:0002358 | 98.86 | gold quality |
| mucosa of stomach | UBERON:0001199 | 98.85 | gold quality |
| cortical plate | UBERON:0005343 | 98.84 | gold quality |
| right ovary | UBERON:0002118 | 98.69 | gold quality |
| left uterine tube | UBERON:0001303 | 98.67 | gold quality |
| right uterine tube | UBERON:0001302 | 98.61 | gold quality |
| adenohypophysis | UBERON:0002196 | 98.61 | gold quality |
| ectocervix | UBERON:0012249 | 98.59 | gold quality |
| skin of leg | UBERON:0001511 | 98.58 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 98.58 | gold quality |
| nucleus accumbens | UBERON:0001882 | 98.57 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-122 | yes | 69.76 |
| E-ANND-3 | yes | 20.37 |
| E-HCAD-13 | yes | 11.59 |
| E-CURD-112 | no | 2.58 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
29 targeting GRINA, 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-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-493-5P | 99.96 | 72.47 | 2382 |
| HSA-MIR-6499-3P | 99.90 | 66.38 | 1212 |
| HSA-MIR-3529-3P | 99.90 | 73.55 | 3045 |
| HSA-MIR-4731-5P | 99.89 | 67.23 | 2537 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-4779 | 99.86 | 66.50 | 1583 |
| HSA-MIR-3177-5P | 99.65 | 70.38 | 1174 |
| HSA-MIR-762 | 99.58 | 66.61 | 1994 |
| HSA-MIR-17-3P | 99.55 | 66.77 | 1311 |
| HSA-MIR-4437 | 99.52 | 65.29 | 1266 |
| HSA-MIR-4498 | 99.47 | 67.42 | 2360 |
| HSA-MIR-6852-5P | 99.17 | 66.69 | 2073 |
| HSA-MIR-4292 | 99.16 | 65.57 | 1767 |
| HSA-MIR-6791-5P | 99.16 | 65.92 | 1844 |
| HSA-MIR-6868-5P | 99.06 | 65.69 | 1284 |
| HSA-MIR-5001-5P | 99.05 | 66.76 | 1972 |
| HSA-MIR-5088-5P | 97.97 | 64.28 | 487 |
| HSA-MIR-10526-3P | 97.86 | 64.97 | 1342 |
| HSA-MIR-4723-3P | 97.67 | 65.91 | 1017 |
| HSA-MIR-9851-5P | 97.57 | 67.49 | 1067 |
| HSA-MIR-6769B-3P | 97.41 | 65.53 | 1036 |
| HSA-MIR-3183 | 97.40 | 65.68 | 978 |
| HSA-MIR-6859-3P | 97.26 | 64.69 | 428 |
| HSA-MIR-6869-5P | 97.17 | 67.06 | 634 |
| HSA-MIR-6762-5P | 96.55 | 64.62 | 972 |
| HSA-MIR-6845-5P | 96.55 | 64.65 | 969 |
| HSA-MIR-564 | 95.85 | 65.01 | 163 |
| HSA-MIR-4524B-3P | 95.52 | 64.12 | 964 |
Literature-anchored findings (GeneRIF, showing 10)
- The tmbim3 may participate in cell death regulation by interacting with proteins of Bcl-2 family, promoting tumor metastasis, which is deduced from the evolutionary conservation of the membrane protein family containing multiple membrane spanning segments (PMID:18440869)
- Data showed that GRINA-C was associated with Gb3 synthase, and may demonstrate a new type of posttranscriptional regulation of glycosyltransferases. (PMID:20837469)
- The role of TMBIM3/GRINA in the control of cell death in cellular and animal models of ER stress possibly owing to the regulation of ER calcium homeostasis. (PMID:22240901)
- These results suggest that the TMBIM family has comparable functions in the maintenance of intracellular Ca(2) homeostasis in a wide variety of tissues (PMID:25764978)
- Extraintestinal manifestations of celiac disease are explained on the basis of 33-mer gliadin binding to glutamate receptor GRINA. (PMID:26990286)
- Human gastric cancers have increased levels of GRINA, which promotes growth of gastric cancer and inhibits tumor cells apoptosis. (PMID:30541591)
- PLEC encodes plectin, a cytoskeletal protein that maintains tissue integrity. GRINA encodes TMBIM3, which regulates cell survival. We hypothesized that in a joint predisposed to Osteoarthritis (OA), expression of these genes alters to combat aberrant biomechanics and is epigenetically regulated. However, carriage of the OA risk-conferring allele at this locus hinders this response and contributes to disease development. (PMID:30730609)
- The cytoplasmic N-terminal half of GRINA (which spans a Proline-rich domain) contains a potential DNA-binding sequence, in addition to cleavage target sites and probable PY-nuclear localization sequences, that may enable it to be released from the rest of the protein and enter the nucleus under suitable conditions, where it could participate in the transcription, alternative splicing, and mRNA export. [review] (PMID:31426446)
- Glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1, a potential target of miR-296, facilitates proliferation and migration of rectal cancer cells. (PMID:32657216)
- Glutamate receptor, ionotropic, Nmethyl Daspartateassociated protein 1 promotes colorectal cancer cell proliferation and metastasis, and is negatively regulated by miR2963p. (PMID:34368871)
Cross-species orthologs
10 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | grinaa | ENSDARG00000101317 |
| mus_musculus | Grina | ENSMUSG00000022564 |
| rattus_norvegicus | Grina | ENSRNOG00000029941 |
| drosophila_melanogaster | Nmda1 | FBGN0013305 |
| drosophila_melanogaster | Lfg | FBGN0025692 |
| drosophila_melanogaster | Recs1 | FBGN0038209 |
| drosophila_melanogaster | CG30379 | FBGN0050379 |
| caenorhabditis_elegans | WBGENE00006470 | |
| caenorhabditis_elegans | WBGENE00009580 | |
| caenorhabditis_elegans | WBGENE00021537 |
Paralogs (5): FAIM2 (ENSG00000135472), TMBIM1 (ENSG00000135926), TMBIM6 (ENSG00000139644), TMBIM4 (ENSG00000155957), GHITM (ENSG00000165678)
Protein
Protein identifiers
Protein lifeguard 1 — Q7Z429 (reviewed: Q7Z429)
Alternative names: Glutamate [NMDA] receptor-associated protein 1, NMDA receptor glutamate-binding subunit, Putative MAPK-activating protein PM02, Transmembrane BAX inhibitor motif-containing protein 3
All UniProt accessions (6): Q7Z429, E9PPG3, E9PQF8, H0YC98, H0YCP9, H0YEI4
UniProt curated annotations — full annotation on UniProt →
Function. Potential apoptotic regulator.
Subcellular location. Membrane.
Similarity. Belongs to the BI1 family. LFG subfamily.
RefSeq proteins (2): NP_000828, NP_001009184* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR006214 | Bax_inhibitor_1-related | Family |
Pfam: PF01027
UniProt features (16 total): transmembrane region 7, compositionally biased region 3, sequence conflict 3, chain 1, sequence variant 1, region of interest 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q7Z429-F1 | 71.69 | 0.40 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 232 (showing top):
GOBP_NEGATIVE_REGULATION_OF_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS, GOBP_NEGATIVE_REGULATION_OF_NEURON_APOPTOTIC_PROCESS, MODY_HIPPOCAMPUS_POSTNATAL, MORF_RAB5A, XU_GH1_AUTOCRINE_TARGETS_UP, GOBP_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, DACOSTA_UV_RESPONSE_VIA_ERCC3_UP, IVANOVA_HEMATOPOIESIS_MATURE_CELL, GOBP_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, PATIL_LIVER_CANCER, GOBP_NEGATIVE_REGULATION_OF_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY
GO Biological Process (6): endoplasmic reticulum calcium ion homeostasis (GO:0032469), negative regulation of neuron apoptotic process (GO:0043524), apoptotic signaling pathway (GO:0097190), negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042), negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236), calcium ion transmembrane transport (GO:0070588)
GO Molecular Function (3): calcium channel activity (GO:0005262), transmembrane transporter binding (GO:0044325), protein binding (GO:0005515)
GO Cellular Component (4): Golgi membrane (GO:0000139), endoplasmic reticulum (GO:0005783), Golgi apparatus (GO:0005794), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cytoplasm | 2 |
| endomembrane system | 2 |
| intracellular membrane-bounded organelle | 2 |
| endoplasmic reticulum | 1 |
| intracellular calcium ion homeostasis | 1 |
| negative regulation of apoptotic process | 1 |
| regulation of neuron apoptotic process | 1 |
| neuron apoptotic process | 1 |
| apoptotic process | 1 |
| signal transduction | 1 |
| extrinsic apoptotic signaling pathway via death domain receptors | 1 |
| regulation of extrinsic apoptotic signaling pathway via death domain receptors | 1 |
| negative regulation of extrinsic apoptotic signaling pathway | 1 |
| intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress | 1 |
| regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway | 1 |
| negative regulation of response to endoplasmic reticulum stress | 1 |
| negative regulation of intrinsic apoptotic signaling pathway | 1 |
| calcium ion transport | 1 |
| monoatomic cation transmembrane transport | 1 |
| monoatomic cation channel activity | 1 |
| calcium ion transmembrane transporter activity | 1 |
| protein binding | 1 |
| binding | 1 |
| Golgi apparatus | 1 |
| bounding membrane of organelle | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1044 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| GRINA | TG | P01266 | 691 |
| GRINA | TMBIM6 | P55061 | 688 |
| GRINA | GRIN2D | O15399 | 629 |
| GRINA | PARP10 | Q53GL7 | 593 |
| GRINA | GHITM | Q9H3K2 | 591 |
| GRINA | TMEM276 | P0DTL5 | 519 |
| GRINA | PLEC | Q15149 | 509 |
| GRINA | ITPR3 | Q14573 | 506 |
| GRINA | ITPR1 | Q14643 | 504 |
| GRINA | GRIK4 | Q16099 | 499 |
| GRINA | PDCD6 | O75340 | 479 |
| GRINA | CALML5 | Q9NZT1 | 469 |
| GRINA | CALML3 | P27482 | 460 |
| GRINA | ARHGAP39 | Q9C0H5 | 460 |
| GRINA | MROH1 | Q8NDA8 | 455 |
IntAct
26 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| GRINA | GPX8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TIAL1 | GRINA | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP19-5 | GRINA | psi-mi:“MI:0915”(physical association) | 0.560 |
| GGT6 | GRINA | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP6-2 | GRINA | psi-mi:“MI:0915”(physical association) | 0.560 |
| FMO1 | GRINA | psi-mi:“MI:0915”(physical association) | 0.560 |
| GRINA | TMEM242 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GRINA | DRD2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| GRINA | GAMMAHV.M3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| TIAL1 | GRINA | psi-mi:“MI:0915”(physical association) | 0.000 |
| GRINA | KRTAP6-2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| GRINA | FMO1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| GRINA | KRTAP19-5 | psi-mi:“MI:0915”(physical association) | 0.000 |
| GRINA | GGT6 | psi-mi:“MI:0915”(physical association) | 0.000 |
| GRINA | TMEM242 | psi-mi:“MI:0915”(physical association) | 0.000 |
| GRINA | psi-mi:“MI:0915”(physical association) | 0.000 | |
| ald1 | GRINA | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (12): GRINA (PCA), GRINA (Affinity Capture-MS), GRINA (Two-hybrid), GRINA (Two-hybrid), GRINA (Two-hybrid), GRINA (Two-hybrid), KRTAP6-2 (Two-hybrid), KRTAP19-5 (Two-hybrid), TMEM242 (Two-hybrid), GRINA (Two-hybrid), GRINA (Proximity Label-MS), GRINA (Affinity Capture-RNA)
ESM2 similar proteins: A1KXE4, A8E639, D4AEP3, O95415, P0C0T0, P28662, P56603, P60486, P97765, Q0VFP2, Q15038, Q32L53, Q32L83, Q3SZ48, Q3T0K9, Q4R5H7, Q4V888, Q58D45, Q5BJ83, Q5EAU3, Q5HZN7, Q5PPK1, Q5R4K6, Q5R526, Q5RDV6, Q5U2U6, Q5XIH2, Q5ZIS9, Q6GMG8, Q6P6R0, Q6P828, Q7Z429, Q80XQ8, Q8AVW3, Q8CA71, Q8N114, Q8N4L2, Q8QGW7, Q8R478, Q969T9
Diamond homologs: F4JIE8, O25578, O31539, O74888, O88407, P0DXN1, P0DXN2, P0DXN3, Q11080, Q1LZ71, Q32L53, Q5R4I4, Q6P6R0, Q7Z429, Q8K097, Q94A20, Q9BWQ8, Q9DA39, Q9ESF4, Q9HC24, Q9KSA1, Q9M1V9, Q9PIQ8, Q9SA63, Q9ZKT1, Q9ZQX7, Q8BJZ3, Q969X1, Q9A2A3, P0AAC4, P0AAC5, P48558, Q5R7R1, Q03268, Q9CEU8, P55061
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
56 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 42 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1036 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 8:143991690:A:AG | acceptor_gain | 1.0000 |
| 8:143991691:G:GA | acceptor_gain | 1.0000 |
| 8:143991691:GC:G | acceptor_gain | 1.0000 |
| 8:143991691:GCA:G | acceptor_gain | 1.0000 |
| 8:143991691:GCAC:G | acceptor_gain | 1.0000 |
| 8:143991691:GCACC:G | acceptor_gain | 1.0000 |
| 8:143991800:GCAAG:G | donor_gain | 1.0000 |
| 8:143991801:CAAG:C | donor_loss | 1.0000 |
| 8:143991805:G:GG | donor_gain | 1.0000 |
| 8:143991806:T:A | donor_loss | 1.0000 |
| 8:143992240:T:A | acceptor_gain | 1.0000 |
| 8:143992240:TGCAG:T | acceptor_loss | 1.0000 |
| 8:143992241:GCA:G | acceptor_loss | 1.0000 |
| 8:143992242:CAGTC:C | acceptor_loss | 1.0000 |
| 8:143992243:A:AG | acceptor_gain | 1.0000 |
| 8:143992243:AGTC:A | acceptor_gain | 1.0000 |
| 8:143992244:G:GA | acceptor_gain | 1.0000 |
| 8:143992244:GT:G | acceptor_gain | 1.0000 |
| 8:143992244:GTC:G | acceptor_gain | 1.0000 |
| 8:143992244:GTCG:G | acceptor_gain | 1.0000 |
| 8:143992273:T:TA | acceptor_gain | 1.0000 |
| 8:143992370:GCAG:G | donor_gain | 1.0000 |
| 8:143992374:G:GA | donor_loss | 1.0000 |
| 8:143992375:T:G | donor_loss | 1.0000 |
| 8:143992457:A:AG | acceptor_gain | 1.0000 |
| 8:143992460:TGCAG:T | acceptor_loss | 1.0000 |
| 8:143992461:GCAGA:G | acceptor_loss | 1.0000 |
| 8:143992462:CAGA:C | acceptor_loss | 1.0000 |
| 8:143992463:A:AC | acceptor_loss | 1.0000 |
| 8:143992463:A:AG | acceptor_gain | 1.0000 |
AlphaMissense
2396 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 8:143991793:T:C | F161L | 1.000 |
| 8:143991795:C:A | F161L | 1.000 |
| 8:143991795:C:G | F161L | 1.000 |
| 8:143991903:T:C | L173P | 1.000 |
| 8:143992279:G:A | G243E | 1.000 |
| 8:143992344:T:C | C265R | 1.000 |
| 8:143992589:G:A | G316D | 1.000 |
| 8:143991785:G:C | R158P | 0.999 |
| 8:143991794:T:C | F161S | 0.999 |
| 8:143991891:T:C | L169P | 0.999 |
| 8:143991963:T:A | V193D | 0.999 |
| 8:143992050:G:C | R222P | 0.999 |
| 8:143992077:T:C | L231P | 0.999 |
| 8:143992260:A:C | S237R | 0.999 |
| 8:143992262:C:A | S237R | 0.999 |
| 8:143992262:C:G | S237R | 0.999 |
| 8:143992278:G:A | G243R | 0.999 |
| 8:143992278:G:C | G243R | 0.999 |
| 8:143992278:G:T | G243W | 0.999 |
| 8:143992288:C:A | A246D | 0.999 |
| 8:143992320:G:C | A257P | 0.999 |
| 8:143992354:T:A | V268D | 0.999 |
| 8:143992478:T:C | F279S | 0.999 |
| 8:143992507:A:C | S289R | 0.999 |
| 8:143992509:C:A | S289R | 0.999 |
| 8:143992509:C:G | S289R | 0.999 |
| 8:143992588:G:C | G316R | 0.999 |
| 8:143992606:T:C | C322R | 0.999 |
| 8:143992696:T:A | L324H | 0.999 |
| 8:143992696:T:C | L324P | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000602570 (8:143990929 A>G), RS1001264450 (8:143993141 G>A,T), RS1002271584 (8:143992192 A>C), RS1002850287 (8:143988529 G>A), RS1003404964 (8:143988715 G>A), RS1004071190 (8:143991936 C>G,T), RS1004523603 (8:143989938 T>C), RS1005741134 (8:143992953 A>G), RS1007691459 (8:143988398 C>T), RS1008381165 (8:143991572 C>T), RS1008953418 (8:143989878 G>C), RS1009755776 (8:143992454 C>T), RS1011380913 (8:143993198 C>T), RS1011915810 (8:143990894 G>C), RS1012443478 (8:143990654 G>A,C)
Disease associations
OMIM: gene MIM:138251 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
7 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002898_12 | LDL cholesterol | 2.000000e-10 |
| GCST004121_35 | Fibrinogen levels | 5.000000e-08 |
| GCST005993_43 | Mean corpuscular hemoglobin | 2.000000e-09 |
| GCST006011_75 | Mean corpuscular volume | 1.000000e-08 |
| GCST008103_86 | Bipolar disorder | 1.000000e-06 |
| GCST008115_8 | Bipolar I disorder | 2.000000e-08 |
| GCST010703_132 | Brain morphology (MOSTest) | 3.000000e-08 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004611 | low density lipoprotein cholesterol measurement |
| EFO:0004527 | mean corpuscular hemoglobin |
| EFO:0009963 | bipolar I disorder |
| EFO:0004346 | neuroimaging measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
43 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | increases abundance, increases expression, decreases expression, affects cotreatment | 3 |
| Benzo(a)pyrene | decreases expression, increases methylation | 3 |
| Valproic Acid | affects cotreatment, decreases expression | 3 |
| bisphenol A | affects expression, decreases methylation | 2 |
| tamibarotene | affects expression, increases expression | 2 |
| Air Pollutants | increases abundance, increases expression, decreases expression | 2 |
| Arsenic | affects cotreatment, increases abundance, increases expression, decreases expression | 2 |
| Tretinoin | decreases expression, increases expression | 2 |
| Particulate Matter | decreases expression, increases abundance, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| bisphenol F | affects cotreatment, increases expression | 1 |
| alpha phellandrene | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| manganese chloride | increases expression, affects cotreatment, increases abundance | 1 |
| cupric chloride | decreases expression | 1 |
| perfluorodecanoic acid | decreases expression | 1 |
| pinostrobin | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| abrine | increases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| MT19c compound | 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 |
| Resveratrol | increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Fulvestrant | increases methylation | 1 |
| Acetaminophen | increases expression | 1 |
| Atrazine | increases expression | 1 |
| Cisplatin | decreases expression | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Diethylstilbestrol | increases expression | 1 |
Cellosaurus cell lines
4 cell lines: 4 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_SQ53 | HAP1 GRINA (-) 1 | Cancer cell line | Male |
| CVCL_XP37 | HAP1 GRINA (-) 2 | Cancer cell line | Male |
| CVCL_XP38 | HAP1 GRINA (-) 3 | Cancer cell line | Male |
| CVCL_XP39 | HAP1 GRINA (-) 4 | Cancer cell line | Male |
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.