TMBIM4
gene geneOn this page
Also known as CGI-119S1RZPROLFG4GAAP
Summary
TMBIM4 (transmembrane BAX inhibitor motif containing 4, HGNC:24257) is a protein-coding gene on chromosome 12q14.3, encoding Protein lifeguard 4 (Q9HC24). Anti-apoptotic protein which can inhibit apoptosis induced by intrinsic and extrinsic apoptotic stimuli.
Predicted to enable calcium channel activity. Involved in negative regulation of apoptotic process and regulation of calcium-mediated signaling. Located in Golgi stack and endoplasmic reticulum membrane.
Source: NCBI Gene 51643 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 46 total
- MANE Select transcript:
NM_016056
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:24257 |
| Approved symbol | TMBIM4 |
| Name | transmembrane BAX inhibitor motif containing 4 |
| Location | 12q14.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CGI-119, S1R, ZPRO, LFG4, GAAP |
| Ensembl gene | ENSG00000155957 |
| Ensembl biotype | protein_coding |
| OMIM | 616874 |
| Entrez | 51643 |
Gene structure
Transcript identifiers
Ensembl transcripts: 12 — 6 protein_coding, 4 nonsense_mediated_decay, 1 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000286424, ENST00000358230, ENST00000398033, ENST00000534930, ENST00000535812, ENST00000538217, ENST00000542072, ENST00000542724, ENST00000544599, ENST00000545407, ENST00000545504, ENST00000633367
RefSeq mRNA: 4 — MANE Select: NM_016056
NM_001282606, NM_001282609, NM_001282610, NM_016056
CCDS: CCDS41805, CCDS61187, CCDS81710
Canonical transcript exons
ENST00000358230 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002324150 | 66135846 | 66138166 |
| ENSE00003595865 | 66153340 | 66153448 |
| ENSE00003603695 | 66147908 | 66147941 |
| ENSE00003607620 | 66145841 | 66145958 |
| ENSE00003660034 | 66152271 | 66152376 |
| ENSE00003788466 | 66138724 | 66138769 |
| ENSE00003903456 | 66169855 | 66169996 |
Expression profiles
Bgee: expression breadth ubiquitous, 292 present calls, max score 99.07.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 76.0934 / max 709.6131, expressed in 1822 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 131932 | 63.8351 | 1822 |
| 131933 | 10.2001 | 1776 |
| 131934 | 1.4047 | 1033 |
| 131931 | 0.5388 | 69 |
| 206774 | 0.0718 | 11 |
| 131930 | 0.0429 | 6 |
Top tissues by expression
294 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| buccal mucosa cell | CL:0002336 | 99.07 | gold quality |
| monocyte | CL:0000576 | 98.97 | gold quality |
| mononuclear cell | CL:0000842 | 98.91 | gold quality |
| leukocyte | CL:0000738 | 98.88 | gold quality |
| calcaneal tendon | UBERON:0003701 | 98.80 | gold quality |
| body of pancreas | UBERON:0001150 | 98.70 | gold quality |
| left adrenal gland | UBERON:0001234 | 98.58 | gold quality |
| right lung | UBERON:0002167 | 98.58 | gold quality |
| left testis | UBERON:0004533 | 98.58 | gold quality |
| right adrenal gland | UBERON:0001233 | 98.57 | gold quality |
| right testis | UBERON:0004534 | 98.57 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 98.56 | gold quality |
| gall bladder | UBERON:0002110 | 98.53 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 98.50 | gold quality |
| rectum | UBERON:0001052 | 98.49 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 98.48 | gold quality |
| endocervix | UBERON:0000458 | 98.46 | gold quality |
| mucosa of stomach | UBERON:0001199 | 98.43 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 98.38 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 98.34 | silver quality |
| tendon | UBERON:0000043 | 98.29 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 98.29 | gold quality |
| adrenal cortex | UBERON:0001235 | 98.28 | gold quality |
| body of uterus | UBERON:0009853 | 98.28 | gold quality |
| adenohypophysis | UBERON:0002196 | 98.19 | gold quality |
| body of stomach | UBERON:0001161 | 98.17 | gold quality |
| minor salivary gland | UBERON:0001830 | 98.16 | gold quality |
| left uterine tube | UBERON:0001303 | 98.15 | gold quality |
| thoracic aorta | UBERON:0001515 | 98.15 | gold quality |
| peritoneum | UBERON:0002358 | 98.15 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-84465 | yes | 1288.31 |
| E-GEOD-125970 | yes | 16.03 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
42 targeting TMBIM4, 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-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-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-150-5P | 99.99 | 66.69 | 1976 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-9-3P | 99.96 | 70.88 | 2068 |
| HSA-MIR-144-3P | 99.94 | 73.98 | 2698 |
| HSA-MIR-3143 | 99.93 | 71.96 | 3104 |
| HSA-MIR-10527-5P | 99.91 | 72.28 | 3754 |
| HSA-MIR-5680 | 99.91 | 69.83 | 3421 |
| HSA-MIR-380-3P | 99.89 | 70.18 | 1978 |
| HSA-MIR-4503 | 99.85 | 71.45 | 1869 |
| HSA-MIR-202-3P | 99.84 | 71.41 | 1290 |
| HSA-MIR-4668-5P | 99.79 | 70.58 | 3782 |
| HSA-MIR-577 | 99.78 | 69.13 | 2479 |
| HSA-MIR-5580-3P | 99.70 | 69.41 | 2052 |
| HSA-MIR-510-3P | 99.54 | 70.06 | 2965 |
| HSA-MIR-186-3P | 99.51 | 66.24 | 1685 |
| HSA-MIR-582-5P | 99.47 | 70.79 | 2635 |
| HSA-MIR-5009-3P | 99.45 | 69.43 | 1341 |
| HSA-MIR-32-3P | 99.36 | 68.20 | 2517 |
| HSA-MIR-16-2-3P | 99.29 | 70.60 | 1954 |
| HSA-MIR-195-3P | 99.29 | 70.61 | 1954 |
| HSA-MIR-194-5P | 99.01 | 69.65 | 1465 |
| HSA-MIR-513B-3P | 98.76 | 68.12 | 1577 |
Literature-anchored findings (GeneRIF, showing 10)
- Stable expression of both viral GAAP (v-GAAP) and human GAAP (h-GAAP), which is expressed in all human tissues tested, inhibited apoptosis induced by intrinsic and extrinsic apoptotic stimuli (PMID:17319741)
- The tmbim4 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 demonstrate that h-GAAP modulates intracellular Ca(2+) fluxes induced by both physiological and apoptotic stimuli. (PMID:19553469)
- Data indicate that GAAP and BI-1 have a six membrane-spanning topology with cytosolic N and C termini and a C-terminal reentrant loop. (PMID:22418439)
- Taken together, the proposed interaction between Chlamydia pneumoniae protein CPn0809 and GAAP modulates bacterial growth in A549 cells. (PMID:23000903)
- GAAP can oligomerize in a pH-regulated manner, and monomeric GAAP is functional. (PMID:23508950)
- The hGAAP is a novel regulator of focal adhesion dynamics, cell adhesion, and migration by controlling localized Ca(2+)-dependent activation of calpain. (PMID:23940116)
- 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)
- Residues contributing to the ion-conducting pore have been defined and provide the first clues about the mechanistic link between these very different functions of golgi anti-apoptotic protein (GAAP) [review]. (PMID:28469007)
- Stimulation of cell invasion by the Golgi Ion Channel GAAP/TMBIM4 via an H2O2-Dependent Mechanism. (PMID:31693977)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | tmbim4 | ENSDARG00000014361 |
| mus_musculus | Tmbim4 | ENSMUSG00000020225 |
| rattus_norvegicus | Tmbim4 | ENSRNOG00000004312 |
| drosophila_melanogaster | CG33673 | FBGN0053673 |
| caenorhabditis_elegans | WBGENE00006479 |
Paralogs (5): FAIM2 (ENSG00000135472), TMBIM1 (ENSG00000135926), TMBIM6 (ENSG00000139644), GHITM (ENSG00000165678), GRINA (ENSG00000178719)
Protein
Protein identifiers
Protein lifeguard 4 — Q9HC24 (reviewed: Q9HC24)
Alternative names: Golgi anti-apoptotic protein, Protein S1R, Transmembrane BAX inhibitor motif-containing protein 4, Z-protein
All UniProt accessions (8): Q9HC24, E7EWY5, F5GXT9, F5H1S4, G3V1M2, G3V1R8, G3XAA5, Q7Z782
UniProt curated annotations — full annotation on UniProt →
Function. Anti-apoptotic protein which can inhibit apoptosis induced by intrinsic and extrinsic apoptotic stimuli. Can modulate both capacitative Ca2+ entry and inositol 1,4,5-trisphosphate (IP3)-mediated Ca2+ release.
Subunit / interactions. Interacts with ITPR3.
Subcellular location. Golgi apparatus membrane.
Similarity. Belongs to the BI1 family. LFG subfamily.
RefSeq proteins (4): NP_001269535, NP_001269538, NP_001269539, NP_057140* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR006214 | Bax_inhibitor_1-related | Family |
Pfam: PF01027
UniProt features (18 total): topological domain 8, transmembrane region 6, sequence variant 2, chain 1, intramembrane region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9HC24-F1 | 92.33 | 0.81 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 174 (showing top):
GOBP_NEGATIVE_REGULATION_OF_NEURON_APOPTOTIC_PROCESS, GOBP_BEHAVIOR, GOBP_REGULATION_OF_CALCIUM_MEDIATED_SIGNALING, GOBP_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS, CHIANG_LIVER_CANCER_SUBCLASS_UNANNOTATED_DN, GOBP_CELLULAR_RESPONSE_TO_TOPOLOGICALLY_INCORRECT_PROTEIN, GOBP_MONOATOMIC_CATION_TRANSPORT, IRF7_01, KIM_GERMINAL_CENTER_T_HELPER_UP, IRF_Q6, GOBP_NEURON_APOPTOTIC_PROCESS, GOBP_CALCIUM_ION_TRANSMEMBRANE_TRANSPORT, GRYDER_PAX3FOXO1_ENHANCERS_IN_TADS, GOBP_TRANSMEMBRANE_TRANSPORT, GOBP_RESPONSE_TO_TOPOLOGICALLY_INCORRECT_PROTEIN
GO Biological Process (7): apoptotic process (GO:0006915), locomotory behavior (GO:0007626), endoplasmic reticulum unfolded protein response (GO:0030968), negative regulation of apoptotic process (GO:0043066), negative regulation of neuron apoptotic process (GO:0043524), regulation of calcium-mediated signaling (GO:0050848), calcium ion transmembrane transport (GO:0070588)
GO Molecular Function (2): calcium channel activity (GO:0005262), protein binding (GO:0005515)
GO Cellular Component (5): Golgi membrane (GO:0000139), endoplasmic reticulum membrane (GO:0005789), Golgi stack (GO:0005795), membrane (GO:0016020), Golgi apparatus (GO:0005794)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| programmed cell death | 1 |
| apoptotic signaling pathway | 1 |
| execution phase of apoptosis | 1 |
| behavior | 1 |
| cellular response to unfolded protein | 1 |
| response to endoplasmic reticulum stress | 1 |
| intracellular signal transduction | 1 |
| apoptotic process | 1 |
| regulation of apoptotic process | 1 |
| negative regulation of programmed cell death | 1 |
| negative regulation of apoptotic process | 1 |
| regulation of neuron apoptotic process | 1 |
| neuron apoptotic process | 1 |
| calcium-mediated signaling | 1 |
| regulation of intracellular signal transduction | 1 |
| calcium ion transport | 1 |
| monoatomic cation transmembrane transport | 1 |
| monoatomic cation channel activity | 1 |
| calcium ion transmembrane transporter activity | 1 |
| binding | 1 |
| Golgi apparatus | 1 |
| bounding membrane of organelle | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| Golgi apparatus subcompartment | 1 |
| cellular anatomical structure | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
872 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TMBIM4 | PML | P29590 | 898 |
| TMBIM4 | SIGMAR1 | Q99720 | 876 |
| TMBIM4 | RIGI | O95786 | 845 |
| TMBIM4 | TMEM97 | Q5BJF2 | 830 |
| TMBIM4 | ITPR3 | Q14573 | 814 |
| TMBIM4 | EIF4E | P06730 | 755 |
| TMBIM4 | IFIH1 | Q9BYX4 | 745 |
| TMBIM4 | PSMB2 | P31145 | 719 |
| TMBIM4 | SERPINA1 | P01009 | 715 |
| TMBIM4 | GP2 | P55259 | 678 |
| TMBIM4 | PSMB10 | P40306 | 669 |
| TMBIM4 | ERN1 | O75460 | 613 |
| TMBIM4 | PSMB8 | P28062 | 602 |
| TMBIM4 | GTPBP1 | O00178 | 601 |
| TMBIM4 | ITPR1 | Q14643 | 586 |
IntAct
38 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TMBIM4 | psi-mi:“MI:0915”(physical association) | 0.370 | |
| TMBIM4 | SSR4 | psi-mi:“MI:0915”(physical association) | 0.000 |
| TMBIM4 | MFN1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| TMBIM4 | CCDC47 | psi-mi:“MI:0915”(physical association) | 0.000 |
| TMBIM4 | NDUFB6 | psi-mi:“MI:0915”(physical association) | 0.000 |
| TMBIM4 | COX4I1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| TMBIM4 | PPIB | psi-mi:“MI:0915”(physical association) | 0.000 |
| TMBIM4 | PEBP1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| TMBIM4 | TXN | psi-mi:“MI:0915”(physical association) | 0.000 |
| TMBIM4 | MYCBP | psi-mi:“MI:0915”(physical association) | 0.000 |
| TMBIM4 | OTUD4 | psi-mi:“MI:0915”(physical association) | 0.000 |
| TMBIM4 | RANGAP1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| TMBIM4 | TMCO1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| TMBIM4 | SUN2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| TMBIM4 | RPL22 | psi-mi:“MI:0915”(physical association) | 0.000 |
| TMBIM4 | PRPSAP1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| TMBIM4 | ORMDL1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| TMBIM4 | SURF4 | psi-mi:“MI:0915”(physical association) | 0.000 |
| TMBIM4 | DFFA | psi-mi:“MI:0915”(physical association) | 0.000 |
| TMBIM4 | SMIM11 | psi-mi:“MI:0915”(physical association) | 0.000 |
| TMBIM4 | HNRNPL | psi-mi:“MI:0915”(physical association) | 0.000 |
| TMBIM4 | PRMT1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| TMBIM4 | DDOST | psi-mi:“MI:0915”(physical association) | 0.000 |
| TMBIM4 | HACD3 | psi-mi:“MI:0915”(physical association) | 0.000 |
| TMBIM4 | psi-mi:“MI:0915”(physical association) | 0.000 | |
| TMBIM4 | EMC1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| PSMB5 | TMBIM4 | psi-mi:“MI:0915”(physical association) | 0.000 |
| TMBIM4 | SGPL1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| TMBIM4 | RPN2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| TMBIM4 | CMTM6 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (13): SLC27A4 (Affinity Capture-MS), RPN2 (Affinity Capture-MS), CCDC47 (Affinity Capture-MS), DDOST (Affinity Capture-MS), PPIB (Affinity Capture-MS), MTX1 (Affinity Capture-MS), PRPSAP1 (Affinity Capture-MS), DFFA (Affinity Capture-MS), COX4I1 (Affinity Capture-MS), TMBIM4 (Two-hybrid), TMBIM4 (Two-hybrid), TMBIM4 (PCA), TMBIM4 (Two-hybrid)
ESM2 similar proteins: A0A1B0GVX0, A2ADU8, A2ADU9, A2Y075, A6QP72, O82232, P34655, P55017, P55018, P56508, P59158, P68178, P68179, Q0DKW8, Q0VBW2, Q22701, Q3ZCB2, Q53GD3, Q54RZ2, Q5REK4, Q5RJI2, Q5TYP8, Q66I68, Q6DK93, Q6DK99, Q6E1M8, Q6E213, Q6GMG8, Q6GZQ0, Q6NUC1, Q6P828, Q6PCW6, Q6ZPD8, Q8H5T6, Q8NG11, Q8QZY6, Q8S5M8, Q91VA1, Q9ARD5, Q9BYD5
Diamond homologs: F4JIE8, O25578, O31539, O74888, O88407, P0AAC6, P0AAC7, P0DA10, P0DA11, P0DXN1, P0DXN2, P0DXN3, Q03268, Q5XDQ1, Q8K097, Q8P2D4, Q94A20, Q9A1B9, Q9DA39, Q9HC24, Q9KSA1, Q9M1V9, Q9SA63, Q9ZKT1, Q9ZQX7, Q11080, Q1LZ71, Q32L53, Q5R4I4, Q6P6R0, Q7Z429, Q9BWQ8, Q9ESF4, Q9PIQ8, Q8BJZ3, Q969X1, Q9A2A3, O51489, O84826, P0AAC4
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
46 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 30 |
| Likely benign | 3 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1415 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:66137962:A:AC | donor_gain | 1.0000 |
| 12:66137963:C:CC | donor_gain | 1.0000 |
| 12:66137979:T:TA | donor_gain | 1.0000 |
| 12:66138167:C:CC | acceptor_gain | 1.0000 |
| 12:66169853:A:AC | donor_gain | 1.0000 |
| 12:66169853:AC:A | donor_gain | 1.0000 |
| 12:66169854:C:CC | donor_gain | 1.0000 |
| 12:66169854:CC:C | donor_gain | 1.0000 |
| 12:66137973:A:C | donor_gain | 0.9900 |
| 12:66138049:A:AC | donor_gain | 0.9900 |
| 12:66138050:C:CC | donor_gain | 0.9900 |
| 12:66138162:AAAAA:A | acceptor_gain | 0.9900 |
| 12:66138163:AAAA:A | acceptor_gain | 0.9900 |
| 12:66138164:AAA:A | acceptor_gain | 0.9900 |
| 12:66138165:AA:A | acceptor_gain | 0.9900 |
| 12:66138717:AACTT:A | donor_loss | 0.9900 |
| 12:66138718:ACTTA:A | donor_loss | 0.9900 |
| 12:66145959:C:CC | acceptor_gain | 0.9900 |
| 12:66153339:CCT:C | donor_gain | 0.9900 |
| 12:66153449:C:CC | acceptor_gain | 0.9900 |
| 12:66169288:A:AC | donor_gain | 0.9900 |
| 12:66169289:C:CC | donor_gain | 0.9900 |
| 12:66169744:C:CA | donor_gain | 0.9900 |
| 12:66169850:CGTA:C | donor_loss | 0.9900 |
| 12:66169851:GTACC:G | donor_loss | 0.9900 |
| 12:66169852:TA:T | donor_loss | 0.9900 |
| 12:66169853:ACCC:A | donor_loss | 0.9900 |
| 12:66169854:C:CG | donor_loss | 0.9900 |
| 12:66169854:C:CT | donor_loss | 0.9900 |
| 12:66169854:CCCA:C | donor_gain | 0.9900 |
AlphaMissense
1525 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:66153444:A:C | F34L | 0.998 |
| 12:66153444:A:T | F34L | 0.998 |
| 12:66153446:A:G | F34L | 0.998 |
| 12:66138107:G:C | F190L | 0.994 |
| 12:66138107:G:T | F190L | 0.994 |
| 12:66138109:A:G | F190L | 0.994 |
| 12:66153445:A:G | F34S | 0.994 |
| 12:66152271:A:C | F104L | 0.992 |
| 12:66152271:A:T | F104L | 0.992 |
| 12:66152273:A:G | F104L | 0.992 |
| 12:66138087:T:G | D197A | 0.991 |
| 12:66138106:A:G | C191R | 0.991 |
| 12:66138002:G:C | F225L | 0.989 |
| 12:66138002:G:T | F225L | 0.989 |
| 12:66138004:A:G | F225L | 0.989 |
| 12:66138121:C:G | G186R | 0.989 |
| 12:66138121:C:T | G186R | 0.989 |
| 12:66147929:C:G | A109P | 0.989 |
| 12:66138087:T:A | D197V | 0.988 |
| 12:66153397:G:T | T50K | 0.988 |
| 12:66169860:C:G | R31P | 0.988 |
| 12:66138017:A:C | D220E | 0.987 |
| 12:66138017:A:T | D220E | 0.987 |
| 12:66138102:C:T | G192E | 0.987 |
| 12:66147916:G:T | A113E | 0.987 |
| 12:66138006:A:G | L224P | 0.986 |
| 12:66138018:T:G | D220A | 0.986 |
| 12:66138753:A:G | W161R | 0.986 |
| 12:66138753:A:T | W161R | 0.986 |
| 12:66145895:C:T | G137D | 0.986 |
dbSNP variants (sampled 300 via entrez): RS1000082605 (12:66147570 A>G), RS1000147157 (12:66149259 A>G), RS1000286727 (12:66167609 A>C), RS1000430720 (12:66138604 T>C), RS1000431831 (12:66147163 AAG>A), RS1000483281 (12:66138225 A>C,G,T), RS1000512164 (12:66171637 C>T), RS1000534722 (12:66169984 A>C,G), RS1000568549 (12:66165960 T>C), RS1000705238 (12:66144141 G>T), RS1000729048 (12:66144941 A>T), RS1000778581 (12:66159452 T>C), RS1000849867 (12:66140058 A>G), RS1000862836 (12:66163562 C>G), RS1000927299 (12:66157436 C>T)
Disease associations
OMIM: gene MIM:616874 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004387_4 | Pulse pressure | 8.000000e-09 |
| GCST90020028_987 | Hip circumference adjusted for BMI | 9.000000e-11 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005763 | pulse pressure measurement |
| EFO:0008039 | BMI-adjusted hip circumference |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
32 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases expression, affects cotreatment, increases expression | 2 |
| Quercetin | decreases expression | 2 |
| Valproic Acid | decreases expression, decreases methylation, increases expression | 2 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| propionaldehyde | decreases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| butyraldehyde | decreases expression | 1 |
| casticin | increases expression | 1 |
| K 7174 | decreases expression | 1 |
| ICG 001 | increases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Leflunomide | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Carcinogens | decreases expression | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Diuron | decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Methyl Methanesulfonate | decreases expression | 1 |
| Mutagens | decreases expression | 1 |
| Oxygen | decreases expression | 1 |
| Phthalic Acids | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Tretinoin | increases expression | 1 |
| Tunicamycin | increases expression | 1 |
| 1-Methyl-3-isobutylxanthine | affects cotreatment, increases expression | 1 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases 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.