TMEM132A
gene geneOn this page
Also known as GBPFLJ20539
Summary
TMEM132A (transmembrane protein 132A, HGNC:31092) is a protein-coding gene on chromosome 11q12.2, encoding Transmembrane protein 132A (Q24JP5). May play a role in embryonic and postnatal development of the brain.
This gene encodes a protein that is highly similar to the rat Grp78-binding protein (GBP). Alternatively spliced transcript variants encoding different isoforms have been described.
Source: NCBI Gene 54972 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 190 total
- MANE Select transcript:
NM_178031
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:31092 |
| Approved symbol | TMEM132A |
| Name | transmembrane protein 132A |
| Location | 11q12.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | GBP, FLJ20539 |
| Ensembl gene | ENSG00000006118 |
| Ensembl biotype | protein_coding |
| OMIM | 617363 |
| Entrez | 54972 |
Gene structure
Transcript identifiers
Ensembl transcripts: 14 — 6 protein_coding, 5 protein_coding_CDS_not_defined, 3 retained_intron
ENST00000005286, ENST00000453848, ENST00000534983, ENST00000535480, ENST00000536409, ENST00000536928, ENST00000537065, ENST00000537110, ENST00000538090, ENST00000540112, ENST00000540276, ENST00000543732, ENST00000544065, ENST00000544098
RefSeq mRNA: 2 — MANE Select: NM_178031
NM_017870, NM_178031
CCDS: CCDS44618, CCDS7997
Canonical transcript exons
ENST00000453848 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000721297 | 60935252 | 60935443 |
| ENSE00000851445 | 60933542 | 60933744 |
| ENSE00001360349 | 60935864 | 60937159 |
| ENSE00002237626 | 60924460 | 60924733 |
| ENSE00003527278 | 60931689 | 60931884 |
| ENSE00003537152 | 60928629 | 60928960 |
| ENSE00003542450 | 60931984 | 60932127 |
| ENSE00003601138 | 60927641 | 60927859 |
| ENSE00003627251 | 60934488 | 60934764 |
| ENSE00003633778 | 60927204 | 60927418 |
| ENSE00003788120 | 60930510 | 60930659 |
Expression profiles
Bgee: expression breadth ubiquitous, 214 present calls, max score 98.35.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 28.9487 / max 413.4082, expressed in 1507 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 114528 | 28.5497 | 1505 |
| 114529 | 0.3523 | 217 |
| 114526 | 0.0466 | 22 |
Top tissues by expression
272 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cortical plate | UBERON:0005343 | 98.35 | gold quality |
| ganglionic eminence | UBERON:0004023 | 97.36 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 97.19 | gold quality |
| right frontal lobe | UBERON:0002810 | 96.99 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 96.74 | gold quality |
| cerebellar cortex | UBERON:0002129 | 96.66 | gold quality |
| amygdala | UBERON:0001876 | 96.32 | gold quality |
| prefrontal cortex | UBERON:0000451 | 96.28 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 96.24 | gold quality |
| cingulate cortex | UBERON:0003027 | 96.23 | gold quality |
| cerebellum | UBERON:0002037 | 95.68 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 95.34 | gold quality |
| putamen | UBERON:0001874 | 94.84 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 94.84 | gold quality |
| caudate nucleus | UBERON:0001873 | 94.78 | gold quality |
| neocortex | UBERON:0001950 | 94.59 | gold quality |
| ventricular zone | UBERON:0003053 | 94.53 | gold quality |
| frontal cortex | UBERON:0001870 | 94.46 | gold quality |
| nucleus accumbens | UBERON:0001882 | 94.25 | gold quality |
| stromal cell of endometrium | CL:0002255 | 94.05 | gold quality |
| hypothalamus | UBERON:0001898 | 93.78 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 93.33 | gold quality |
| telencephalon | UBERON:0001893 | 93.26 | gold quality |
| cerebral cortex | UBERON:0000956 | 93.23 | gold quality |
| brain | UBERON:0000955 | 92.82 | gold quality |
| forebrain | UBERON:0001890 | 92.75 | gold quality |
| temporal lobe | UBERON:0001871 | 92.66 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 91.88 | gold quality |
| embryo | UBERON:0000922 | 91.83 | gold quality |
| dorsal motor nucleus of vagus nerve | UBERON:0002870 | 90.64 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-84465 | yes | 274.01 |
| E-CURD-10 | yes | 44.36 |
| E-ANND-3 | no | 2.84 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): E2F1
miRNA regulators (miRDB)
12 targeting TMEM132A, 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-29A-3P | 100.00 | 73.11 | 1835 |
| HSA-MIR-29B-3P | 100.00 | 73.18 | 1833 |
| HSA-MIR-29C-3P | 100.00 | 73.15 | 1833 |
| HSA-MIR-498-3P | 99.91 | 71.27 | 1114 |
| HSA-MIR-4688 | 99.48 | 64.68 | 828 |
| HSA-MIR-4652-3P | 99.33 | 70.02 | 2742 |
| HSA-MIR-6868-3P | 98.63 | 69.64 | 2259 |
| HSA-MIR-4778-5P | 97.96 | 68.06 | 1634 |
| HSA-MIR-3936 | 97.64 | 64.47 | 732 |
| HSA-MIR-6787-5P | 97.54 | 63.85 | 457 |
| HSA-MIR-4652-5P | 96.46 | 64.22 | 553 |
| HSA-MIR-1908-5P | 94.99 | 63.41 | 352 |
Literature-anchored findings (GeneRIF, showing 1)
- describes characterization of the rat protein (PMID:12514190)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | si:dkey-1d7.3 | ENSDARG00000075837 |
| mus_musculus | Tmem132a | ENSMUSG00000024736 |
| rattus_norvegicus | Tmem132a | ENSRNOG00000021338 |
| drosophila_melanogaster | dtn | FBGN0262730 |
| caenorhabditis_elegans | WBGENE00022175 |
Paralogs (4): TMEM132B (ENSG00000139364), TMEM132D (ENSG00000151952), TMEM132C (ENSG00000181234), TMEM132E (ENSG00000181291)
Protein
Protein identifiers
Transmembrane protein 132A — Q24JP5 (reviewed: Q24JP5)
Alternative names: HSPA5-binding protein 1
All UniProt accessions (5): Q24JP5, F5H765, H0YFB3, H0YFQ1, H0YFQ2
UniProt curated annotations — full annotation on UniProt →
Function. May play a role in embryonic and postnatal development of the brain. Increased resistance to cell death induced by serum starvation in cultured cells. Regulates cAMP-induced GFAP gene expression via STAT3 phosphorylation.
Subunit / interactions. Interacts with HSPA5/GRP78.
Subcellular location. Golgi apparatus membrane. Endoplasmic reticulum membrane.
Similarity. Belongs to the TMEM132 family.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q24JP5-1 | 1 | yes |
| Q24JP5-2 | 2 | |
| Q24JP5-3 | 3 | |
| Q24JP5-4 | 4 |
RefSeq proteins (2): NP_060340, NP_821174* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR026307 | TMEM132 | Family |
| IPR031435 | TMEM132_N | Domain |
| IPR031436 | TMEM132_C | Domain |
| IPR031437 | Ig_TMEM132_4th | Domain |
| IPR055421 | TMEM132_3rd | Domain |
| IPR055422 | Ig_TMEM132_2nd | Domain |
| IPR055423 | Ig_TMEM132_5th | Domain |
| IPR055424 | Ig_TMEM132_6th | Domain |
Pfam: PF15705, PF15706, PF16070, PF23039, PF23481, PF23486, PF23487
UniProt features (26 total): region of interest 6, splice variant 5, compositionally biased region 4, topological domain 2, sequence variant 2, sequence conflict 2, signal peptide 1, chain 1, modified residue 1, glycosylation site 1, transmembrane region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q24JP5-F1 | 73.41 | 0.35 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (1): 529
Glycosylation sites (1): 280
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-381426 | Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) |
| R-HSA-8957275 | Post-translational protein phosphorylation |
| R-HSA-392499 | Metabolism of proteins |
| R-HSA-597592 | Post-translational protein modification |
MSigDB gene sets: 135 (showing top):
TGGTGCT_MIR29A_MIR29B_MIR29C, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GOBP_POSITIVE_REGULATION_OF_PROTEIN_LOCALIZATION, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_REGULATION_OF_WNT_SIGNALING_PATHWAY, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS, GOBP_CELL_CELL_SIGNALING, GOBP_REGULATION_OF_PROTEIN_SECRETION, GOBP_REGULATION_OF_CATABOLIC_PROCESS, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_DN, GOBP_SECRETION, GOBP_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS, GOBP_SIGNAL_RELEASE, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS, NIKOLSKY_BREAST_CANCER_11Q12_Q14_AMPLICON
GO Biological Process (3): positive regulation of Wnt signaling pathway (GO:0030177), negative regulation of protein catabolic process (GO:0042177), positive regulation of Wnt protein secretion (GO:0061357)
GO Molecular Function (1): protein homodimerization activity (GO:0042803)
GO Cellular Component (8): Golgi membrane (GO:0000139), endoplasmic reticulum (GO:0005783), endoplasmic reticulum lumen (GO:0005788), endoplasmic reticulum membrane (GO:0005789), plasma membrane (GO:0005886), extracellular exosome (GO:0070062), Golgi apparatus (GO:0005794), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Metabolism of proteins | 2 |
| Post-translational protein modification | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cytoplasm | 2 |
| endomembrane system | 2 |
| intracellular membrane-bounded organelle | 2 |
| positive regulation of signal transduction | 1 |
| Wnt signaling pathway | 1 |
| regulation of Wnt signaling pathway | 1 |
| negative regulation of catabolic process | 1 |
| protein catabolic process | 1 |
| regulation of protein catabolic process | 1 |
| negative regulation of protein metabolic process | 1 |
| positive regulation of cell communication | 1 |
| positive regulation of signaling | 1 |
| positive regulation of protein secretion | 1 |
| Wnt protein secretion | 1 |
| regulation of Wnt protein secretion | 1 |
| identical protein binding | 1 |
| protein dimerization activity | 1 |
| Golgi apparatus | 1 |
| bounding membrane of organelle | 1 |
| endoplasmic reticulum | 1 |
| intracellular organelle lumen | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| membrane | 1 |
| cell periphery | 1 |
| extracellular vesicle | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
586 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TMEM132A | HSPA5 | P11021 | 625 |
| TMEM132A | TMEM62 | Q0P6H9 | 512 |
| TMEM132A | TMED6 | Q8WW62 | 478 |
| TMEM132A | FHIP2B | Q86V87 | 437 |
| TMEM132A | TMEM164 | Q5U3C3 | 416 |
| TMEM132A | MS4A10 | Q96PG2 | 406 |
| TMEM132A | MGAT5B | Q3V5L5 | 385 |
| TMEM132A | NAV2 | Q8IVL1 | 385 |
| TMEM132A | TMEM59 | Q9BXS4 | 370 |
| TMEM132A | CDCP2 | Q5VXM1 | 359 |
| TMEM132A | CDHR2 | Q9BYE9 | 356 |
| TMEM132A | TMEM109 | Q9BVC6 | 351 |
| TMEM132A | NKAPD1 | Q6ZUT1 | 321 |
| TMEM132A | ST8SIA5 | O15466 | 311 |
| TMEM132A | SINHCAF | Q9NP50 | 311 |
IntAct
98 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| B3GNT3 | PGRMC1 | psi-mi:“MI:0914”(association) | 0.670 |
| CRIPTO | AIP | psi-mi:“MI:0914”(association) | 0.640 |
| MGAT4C | GXYLT2 | psi-mi:“MI:0914”(association) | 0.530 |
| DEFA5 | NUDT19 | psi-mi:“MI:0914”(association) | 0.530 |
| DEFA1 | MANBA | psi-mi:“MI:0914”(association) | 0.530 |
| CALR3 | UBR5 | psi-mi:“MI:0914”(association) | 0.530 |
| DNASE2B | ARSA | psi-mi:“MI:0914”(association) | 0.530 |
| C1orf54 | EXTL3 | psi-mi:“MI:0914”(association) | 0.530 |
| SPCS3 | ENTPD6 | psi-mi:“MI:0914”(association) | 0.530 |
| ANTXR1 | WFS1 | psi-mi:“MI:0914”(association) | 0.530 |
| MEGF10 | TMEM132A | psi-mi:“MI:0915”(physical association) | 0.370 |
| TMEM132A | WWP2 | psi-mi:“MI:0914”(association) | 0.350 |
| CCN1 | psi-mi:“MI:0914”(association) | 0.350 | |
| DYRK1A | TEX13D | psi-mi:“MI:0914”(association) | 0.350 |
| ITM2B | ILVBL | psi-mi:“MI:0914”(association) | 0.350 |
| CACNA1C | SYT5 | psi-mi:“MI:0914”(association) | 0.350 |
| CACNA1C | IGLL5 | psi-mi:“MI:0914”(association) | 0.350 |
| CACNA1C | CACNB4 | psi-mi:“MI:0914”(association) | 0.350 |
| HCN1 | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| CACNA1C | DISP2 | psi-mi:“MI:0914”(association) | 0.350 |
| SYNGAP1 | IGLON5 | psi-mi:“MI:0914”(association) | 0.350 |
| MFAP4 | CRLF1 | psi-mi:“MI:0914”(association) | 0.350 |
| TMEM106A | QSOX1 | psi-mi:“MI:0914”(association) | 0.350 |
| PCDHGA9 | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| HLA-DRA | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| CLEC12B | GXYLT2 | psi-mi:“MI:0914”(association) | 0.350 |
| ST8SIA4 | FAM234B | psi-mi:“MI:0914”(association) | 0.350 |
| NAAA | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| LLCFC1 | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (149): TMEM132A (Affinity Capture-RNA), TMEM132A (Affinity Capture-MS), TMEM132A (Affinity Capture-MS), TMEM132A (Affinity Capture-MS), TMEM132A (Affinity Capture-MS), TMEM132A (Affinity Capture-MS), TMEM132A (Affinity Capture-MS), TMEM132A (Affinity Capture-MS), TMEM132A (Affinity Capture-MS), TMEM132A (Affinity Capture-MS), COX6B1 (Affinity Capture-MS), DBI (Affinity Capture-MS), FYN (Affinity Capture-MS), GOLGA2 (Affinity Capture-MS), NDST1 (Affinity Capture-MS)
ESM2 similar proteins: A1A4M2, A4IFG4, A5D8P8, A6NKD9, A7E2M3, B4F7F3, E9Q6B2, F1MX48, F1SAM7, O97676, P18065, P36956, P47877, P49705, P56720, P56873, Q00709, Q00973, Q09200, Q0IHY5, Q15465, Q24JP5, Q2YD98, Q3TAS6, Q58CS8, Q5QQ49, Q5UCC4, Q60416, Q60698, Q641Q3, Q68FE7, Q6AYH6, Q6DVA0, Q6P7K5, Q6UKI2, Q6WVG3, Q80WF4, Q8IW70, Q8JGM4, Q8K064
Diamond homologs: L7VG99, Q14C87, Q14DG7, Q24JP5, Q6IEE6, Q6IEE7, Q76HP2, Q76HP3, Q80WF4, Q8CEF9, Q8N3T6, Q922P8
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 133 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.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Neutrophil degranulation | 17 | 4.4× | 6e-05 |
| Innate Immune System | 15 | 4.3× | 3e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
190 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 170 |
| Likely benign | 6 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1969 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:60926689:G:T | donor_gain | 1.0000 |
| 11:60926696:G:GT | donor_gain | 1.0000 |
| 11:60927202:A:AG | acceptor_gain | 1.0000 |
| 11:60927203:G:GG | acceptor_gain | 1.0000 |
| 11:60927639:AGGT:A | acceptor_gain | 1.0000 |
| 11:60927640:GGTG:G | acceptor_gain | 1.0000 |
| 11:60928958:GCG:G | donor_gain | 1.0000 |
| 11:60928961:G:GA | donor_loss | 1.0000 |
| 11:60928961:G:GG | donor_gain | 1.0000 |
| 11:60928962:T:G | donor_loss | 1.0000 |
| 11:60930505:CCCA:C | acceptor_loss | 1.0000 |
| 11:60930506:CCA:C | acceptor_loss | 1.0000 |
| 11:60930508:A:AG | acceptor_gain | 1.0000 |
| 11:60930508:AG:A | acceptor_gain | 1.0000 |
| 11:60930509:G:A | acceptor_gain | 1.0000 |
| 11:60930509:G:GT | acceptor_gain | 1.0000 |
| 11:60930509:GGAT:G | acceptor_gain | 1.0000 |
| 11:60930509:GGATC:G | acceptor_gain | 1.0000 |
| 11:60930656:CCAG:C | donor_loss | 1.0000 |
| 11:60930658:AGGTG:A | donor_loss | 1.0000 |
| 11:60930659:GGT:G | donor_loss | 1.0000 |
| 11:60930660:G:C | donor_loss | 1.0000 |
| 11:60930661:T:G | donor_loss | 1.0000 |
| 11:60931685:GCA:G | acceptor_gain | 1.0000 |
| 11:60932125:CAG:C | donor_loss | 1.0000 |
| 11:60932126:AG:A | donor_loss | 1.0000 |
| 11:60932127:GG:G | donor_loss | 1.0000 |
| 11:60932128:GT:G | donor_loss | 1.0000 |
| 11:60932129:T:A | donor_loss | 1.0000 |
| 11:60934761:TGAGG:T | donor_loss | 1.0000 |
AlphaMissense
6470 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 11:60936832:G:C | W999C | 0.999 |
| 11:60936832:G:T | W999C | 0.999 |
| 11:60936728:T:C | F965L | 0.998 |
| 11:60936730:T:A | F965L | 0.998 |
| 11:60936730:T:G | F965L | 0.998 |
| 11:60936830:T:A | W999R | 0.998 |
| 11:60936830:T:C | W999R | 0.998 |
| 11:60936520:G:C | W895C | 0.997 |
| 11:60936520:G:T | W895C | 0.997 |
| 11:60936729:T:G | F965C | 0.997 |
| 11:60936891:T:C | I1019T | 0.997 |
| 11:60931777:T:A | W369R | 0.995 |
| 11:60931777:T:C | W369R | 0.995 |
| 11:60936837:G:A | C1001Y | 0.995 |
| 11:60927753:T:C | F143S | 0.994 |
| 11:60936729:T:C | F965S | 0.994 |
| 11:60933721:G:C | W512C | 0.993 |
| 11:60933721:G:T | W512C | 0.993 |
| 11:60934736:G:A | G603D | 0.993 |
| 11:60931772:T:A | V367D | 0.992 |
| 11:60933719:T:A | W512R | 0.992 |
| 11:60933719:T:C | W512R | 0.992 |
| 11:60932098:T:A | C443S | 0.991 |
| 11:60932099:G:C | C443S | 0.991 |
| 11:60934560:G:C | Q544H | 0.991 |
| 11:60934560:G:T | Q544H | 0.991 |
| 11:60934706:C:A | A593D | 0.991 |
| 11:60935898:A:T | D688V | 0.991 |
| 11:60936836:T:A | C1001S | 0.991 |
| 11:60936836:T:C | C1001R | 0.991 |
dbSNP variants (sampled 300 via entrez): RS1000126500 (11:60935104 G>A), RS1000342054 (11:60923591 G>A), RS1000465634 (11:60933971 C>T), RS1000589341 (11:60927990 C>A,T), RS1000647072 (11:60924436 C>T), RS1000676786 (11:60924551 C>A,T), RS1000816634 (11:60934242 C>A,T), RS1000938560 (11:60930324 G>A,C), RS1001537757 (11:60934421 A>C), RS1001810936 (11:60922624 T>C), RS1001985966 (11:60933602 G>A,T), RS1002178861 (11:60924199 C>T), RS1002589490 (11:60933360 T>G), RS1002656945 (11:60927109 C>A,G), RS1002808677 (11:60936979 C>A,T)
Disease associations
OMIM: gene MIM:617363 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST006585_31 | Blood protein levels | 5.000000e-113 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
30 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Tobacco Smoke Pollution | affects expression, decreases expression, increases expression | 3 |
| Estradiol | affects cotreatment, decreases expression, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| methyleugenol | increases expression | 1 |
| propylparaben | increases expression | 1 |
| beta-lapachone | decreases expression | 1 |
| methylparaben | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| cupric chloride | increases expression | 1 |
| perfluorodecanoic acid | decreases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | decreases expression | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| abrine | increases 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 | affects cotreatment, decreases expression | 1 |
| Temozolomide | increases expression | 1 |
| Zoledronic Acid | increases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Cadmium | increases expression | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Dichlorodiphenyl Dichloroethylene | decreases expression | 1 |
| Dexamethasone | decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Progesterone | affects cotreatment, decreases expression | 1 |
| Smoke | decreases expression | 1 |
| Cadmium Chloride | increases expression | 1 |
| Okadaic Acid | increases expression | 1 |
| tert-Butylhydroperoxide | 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.