TMEM131
gene geneOn this page
Also known as CC28YR-23RW1KIAA0257PRO1048
Summary
TMEM131 (transmembrane protein 131, HGNC:30366) is a protein-coding gene on chromosome 2q11.2, encoding Transmembrane protein 131 (Q92545). Collagen binding transmembrane protein involved in collagen secretion by recruiting the ER-to-Golgi transport complex TRAPPIII.
Enables collagen binding activity. Involved in collagen biosynthetic process. Predicted to be active in membrane.
Source: NCBI Gene 23505 — RefSeq curated summary.
At a glance
- GWAS associations: 18
- Clinical variants (ClinVar): 274 total
- MANE Select transcript:
NM_015348
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30366 |
| Approved symbol | TMEM131 |
| Name | transmembrane protein 131 |
| Location | 2q11.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CC28, YR-23, RW1, KIAA0257, PRO1048 |
| Ensembl gene | ENSG00000075568 |
| Ensembl biotype | protein_coding |
| OMIM | 615659 |
| Entrez | 23505 |
Gene structure
Transcript identifiers
Ensembl transcripts: 13 — 7 protein_coding, 5 retained_intron, 1 nonsense_mediated_decay
ENST00000186436, ENST00000409721, ENST00000418629, ENST00000438715, ENST00000465767, ENST00000469447, ENST00000480724, ENST00000485245, ENST00000489507, ENST00000913347, ENST00000913348, ENST00000913349, ENST00000962018
RefSeq mRNA: 1 — MANE Select: NM_015348
NM_015348
CCDS: CCDS46368
Canonical transcript exons
ENST00000186436 — 41 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000771460 | 97796844 | 97796986 |
| ENSE00000771462 | 97801895 | 97801961 |
| ENSE00000771463 | 97802428 | 97802537 |
| ENSE00000804175 | 97775843 | 97776018 |
| ENSE00000921818 | 97792386 | 97792984 |
| ENSE00000921819 | 97793395 | 97793553 |
| ENSE00000964033 | 97859304 | 97859427 |
| ENSE00000964034 | 97844145 | 97844261 |
| ENSE00000964036 | 97837077 | 97837157 |
| ENSE00000964037 | 97834775 | 97834925 |
| ENSE00000964038 | 97834621 | 97834677 |
| ENSE00000964039 | 97833365 | 97833426 |
| ENSE00000964040 | 97818613 | 97818721 |
| ENSE00000964042 | 97814235 | 97814388 |
| ENSE00000964043 | 97813971 | 97814141 |
| ENSE00000964044 | 97812639 | 97812749 |
| ENSE00000964045 | 97812421 | 97812555 |
| ENSE00000964046 | 97811128 | 97811232 |
| ENSE00000964047 | 97809688 | 97809774 |
| ENSE00000964048 | 97805551 | 97805703 |
| ENSE00000964049 | 97805376 | 97805451 |
| ENSE00000964050 | 97805088 | 97805205 |
| ENSE00000964051 | 97802652 | 97802790 |
| ENSE00000964052 | 97797365 | 97797516 |
| ENSE00000964055 | 97766478 | 97766602 |
| ENSE00000964056 | 97766114 | 97766263 |
| ENSE00000964061 | 97758893 | 97759053 |
| ENSE00001072171 | 97772297 | 97772424 |
| ENSE00001153481 | 97756336 | 97757383 |
| ENSE00001308864 | 97762035 | 97762200 |
| ENSE00001313123 | 97759652 | 97759749 |
| ENSE00001326908 | 97760793 | 97760914 |
| ENSE00002299854 | 97995476 | 97995948 |
| ENSE00003472628 | 97815199 | 97815307 |
| ENSE00003529444 | 97927426 | 97927487 |
| ENSE00003539574 | 97796218 | 97796404 |
| ENSE00003615875 | 97908658 | 97908698 |
| ENSE00003626896 | 97794930 | 97795115 |
| ENSE00003632122 | 97888052 | 97888120 |
| ENSE00003654587 | 97760593 | 97760689 |
| ENSE00003785318 | 97841815 | 97841937 |
Expression profiles
Bgee: expression breadth ubiquitous, 295 present calls, max score 97.99.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 17.0996 / max 146.6726, expressed in 1810 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 29831 | 15.2173 | 1804 |
| 29832 | 1.8716 | 1070 |
| 29822 | 0.0107 | 2 |
Top tissues by expression
298 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| bronchial epithelial cell | CL:0002328 | 97.99 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 96.88 | gold quality |
| epithelium of bronchus | UBERON:0002031 | 96.61 | gold quality |
| colonic mucosa | UBERON:0000317 | 96.54 | gold quality |
| jejunal mucosa | UBERON:0000399 | 96.52 | gold quality |
| bronchus | UBERON:0002185 | 96.46 | gold quality |
| tibia | UBERON:0000979 | 95.82 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 95.58 | gold quality |
| jejunum | UBERON:0002115 | 95.20 | gold quality |
| skin of hip | UBERON:0001554 | 95.01 | gold quality |
| upper leg skin | UBERON:0004262 | 94.89 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 94.59 | gold quality |
| blood vessel layer | UBERON:0004797 | 94.48 | gold quality |
| pylorus | UBERON:0001166 | 94.36 | gold quality |
| hair follicle | UBERON:0002073 | 94.26 | gold quality |
| oral cavity | UBERON:0000167 | 94.25 | gold quality |
| vastus lateralis | UBERON:0001379 | 94.10 | gold quality |
| cardia of stomach | UBERON:0001162 | 93.76 | gold quality |
| superficial temporal artery | UBERON:0001614 | 93.73 | gold quality |
| bone marrow cell | CL:0002092 | 93.66 | gold quality |
| secondary oocyte | CL:0000655 | 93.57 | gold quality |
| quadriceps femoris | UBERON:0001377 | 93.54 | gold quality |
| upper arm skin | UBERON:0004263 | 93.51 | gold quality |
| seminal vesicle | UBERON:0000998 | 93.36 | gold quality |
| superior surface of tongue | UBERON:0007371 | 93.19 | gold quality |
| penis | UBERON:0000989 | 93.12 | gold quality |
| parietal pleura | UBERON:0002400 | 93.00 | gold quality |
| rectum | UBERON:0001052 | 92.99 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 92.98 | gold quality |
| nasopharynx | UBERON:0001728 | 92.97 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 6.49 |
| E-GEOD-124858 | no | 165.33 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
79 targeting TMEM131, 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-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-MIR-8068 | 99.98 | 73.85 | 2376 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-4725-3P | 99.96 | 69.53 | 2520 |
| HSA-MIR-6780B-5P | 99.96 | 69.60 | 2562 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-539-5P | 99.93 | 70.30 | 2855 |
| HSA-MIR-6835-3P | 99.93 | 70.49 | 2904 |
| 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 |
Literature-anchored findings (GeneRIF, showing 1)
- A statistically significant loss of methylation at CpG dinucleotide sites within the non-syntenic TMEM131 gene is observed in individuals with free trisomy 21 (Down syndrome) compared with control disomic samples. The loss is independent of the maternal or the paternal origin of the chromosome 21 nondisjunction event. (PMID:27100087)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | tmem131 | ENSDARG00000056259 |
| mus_musculus | Tmem131 | ENSMUSG00000026116 |
| rattus_norvegicus | Tmem131 | ENSRNOG00000017265 |
| drosophila_melanogaster | Tmem131 | FBGN0034060 |
| caenorhabditis_elegans | WBGENE00016170 |
Paralogs (1): TMEM131L (ENSG00000121210)
Protein
Protein identifiers
Transmembrane protein 131 — Q92545 (reviewed: Q92545)
Alternative names: Protein RW1
All UniProt accessions (4): Q92545, C9J6W0, H7BZ05, H7BZV0
UniProt curated annotations — full annotation on UniProt →
Function. Collagen binding transmembrane protein involved in collagen secretion by recruiting the ER-to-Golgi transport complex TRAPPIII. May play a role in the immune response to viral infection.
Subunit / interactions. Interacts (via PapD-L domain) with COL1A2 (via C-terminus); the interaction is direct, may occur with other collagen proteins, and is involved in assembly and TRAPPIII ER-to-Golgi transport complex-dependent secretion of collagen. Interacts (via C-terminus) with TRAPPC8 (via C-terminus); the interaction is direct.
Subcellular location. Membrane.
Domain organisation. Possesses a PapD-like (PapD-L) domain similar to PapD domains involved in assembly and secretion of bacterial pilus components. The PapD-L domain can bind collagens and is probably involved in collagen assembly and secretion.
Similarity. Belongs to the TMEM131 family.
RefSeq proteins (1): NP_056163* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR013783 | Ig-like_fold | Homologous_superfamily |
| IPR022113 | TMEM131L_N | Domain |
| IPR039877 | TMEM131-like | Family |
| IPR045695 | TMEM131-like_Ig_dom2 | Domain |
| IPR055435 | Ig_TMEM131L_3 | Domain |
| IPR055436 | Ig_TMEM131L_4 | Domain |
| IPR055437 | TMEM131L_Ig_5 | Domain |
| IPR056311 | TMEM131_Ig_2 | Domain |
Pfam: PF12371, PF19532, PF24495, PF24498, PF24499, PF24501
UniProt features (38 total): compositionally biased region 15, region of interest 6, modified residue 6, mutagenesis site 5, topological domain 2, signal peptide 1, chain 1, transmembrane region 1, glycosylation site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q92545-F1 | 60.28 | 0.09 |
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 (6): 803, 1322, 1342, 1375, 1863, 1871
Glycosylation sites (1): 300
Mutagenesis-validated functional residues (5):
| Position | Phenotype |
|---|---|
| 1533 | does not affect trappc8 binding. |
| 1564 | does not affect trappc8 binding. abrogates interaction with trappc8; when associated with a-1707. |
| 1577 | does not affect trappc8 binding. |
| 1590 | does not affect trappc8 binding. |
| 1707 | does not affect trappc8 binding. abrogates interaction with trappc8; when associated with a-1564. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 158 (showing top):
DACOSTA_UV_RESPONSE_VIA_ERCC3_COMMON_DN, ZHAN_MULTIPLE_MYELOMA_SUBGROUPS, chr2q11, CASORELLI_ACUTE_PROMYELOCYTIC_LEUKEMIA_UP, WANG_RESPONSE_TO_GSK3_INHIBITOR_SB216763_UP, GOBP_COLLAGEN_METABOLIC_PROCESS, GOBP_COLLAGEN_BIOSYNTHETIC_PROCESS, WAKABAYASHI_ADIPOGENESIS_PPARG_RXRA_BOUND_8D, FOSTER_KDM1A_TARGETS_DN, GOMF_PROTEIN_CONTAINING_COMPLEX_BINDING, SHEN_SMARCA2_TARGETS_UP, GSE14415_ACT_TCONV_VS_ACT_NATURAL_TREG_UP, SESTO_RESPONSE_TO_UV_C8, CIITA_TARGET_GENES, DIDO1_TARGET_GENES
GO Biological Process (1): collagen biosynthetic process (GO:0032964)
GO Molecular Function (1): collagen binding (GO:0005518)
GO Cellular Component (1): membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| biosynthetic process | 1 |
| collagen metabolic process | 1 |
| protein-containing complex binding | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
758 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TMEM131 | AMIGO3 | Q86WK7 | 535 |
| TMEM131 | TRAPPC8 | Q9Y2L5 | 523 |
| TMEM131 | SH3BP2 | P78314 | 494 |
| TMEM131 | ERICH1 | Q86X53 | 488 |
| TMEM131 | ZDHHC14 | Q8IZN3 | 483 |
| TMEM131 | ST20 | Q9HBF5 | 446 |
| TMEM131 | MIA3 | Q5JRA6 | 445 |
| TMEM131 | RALGAPB | Q86X10 | 429 |
| TMEM131 | NAA30 | Q147X3 | 418 |
| TMEM131 | ZNF510 | Q9Y2H8 | 413 |
| TMEM131 | SLC24A5 | Q71RS6 | 412 |
| TMEM131 | LRRC24 | Q50LG9 | 405 |
| TMEM131 | SCGB1A1 | P11684 | 399 |
| TMEM131 | SLC45A2 | Q9UMX9 | 388 |
| TMEM131 | NHLRC2 | Q8NBF2 | 386 |
IntAct
127 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PIGS | GPAA1 | psi-mi:“MI:0914”(association) | 0.760 |
| B3GNT3 | PGRMC1 | psi-mi:“MI:0914”(association) | 0.670 |
| TNFSF13B | IPO8 | psi-mi:“MI:0914”(association) | 0.640 |
| TMEM131 | psi-mi:“MI:0915”(physical association) | 0.550 | |
| PLXDC2 | UPK3BL1 | psi-mi:“MI:0914”(association) | 0.530 |
| MCOLN3 | UPK3BL1 | psi-mi:“MI:0914”(association) | 0.530 |
| DEFA1 | MANBA | psi-mi:“MI:0914”(association) | 0.530 |
| OS9 | AGRN | psi-mi:“MI:0914”(association) | 0.530 |
| GABRD | ATF6 | psi-mi:“MI:0914”(association) | 0.530 |
| FBXO2 | TMEM131L | psi-mi:“MI:0914”(association) | 0.530 |
| LRRTM1 | UPK3BL1 | psi-mi:“MI:0914”(association) | 0.530 |
| GABRA3 | HLA-C | psi-mi:“MI:0914”(association) | 0.530 |
| C1orf54 | EXTL3 | psi-mi:“MI:0914”(association) | 0.530 |
| FKBP2 | TTC13 | psi-mi:“MI:0914”(association) | 0.530 |
| SIDT2 | AP3D1 | psi-mi:“MI:0914”(association) | 0.530 |
| PIP | TBKBP1 | psi-mi:“MI:0914”(association) | 0.530 |
| THOC2 | psi-mi:“MI:0914”(association) | 0.350 | |
| CTR9 | POLR2B | psi-mi:“MI:0914”(association) | 0.350 |
| Kcnk1 | TRAPPC13 | psi-mi:“MI:0914”(association) | 0.350 |
| Tubgcp5 | TUBG1 | psi-mi:“MI:0914”(association) | 0.350 |
| Csde1 | TXNDC9 | psi-mi:“MI:0914”(association) | 0.350 |
| EGLN3 | FAM168B | psi-mi:“MI:0914”(association) | 0.350 |
| LRRTM1 | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (217): TMEM131 (Affinity Capture-MS), TMEM131 (Affinity Capture-MS), TMEM131 (Affinity Capture-MS), TMEM131 (Affinity Capture-MS), TMEM131 (Affinity Capture-MS), TMEM131 (Affinity Capture-MS), TMEM131 (Affinity Capture-MS), TMEM131 (Affinity Capture-MS), TMEM131 (Affinity Capture-MS), TMEM131 (Affinity Capture-MS), TMEM131 (Affinity Capture-MS), TMEM131 (Affinity Capture-MS), TMEM131 (Affinity Capture-MS), TMEM131 (Synthetic Lethality), TMEM131 (Affinity Capture-MS)
ESM2 similar proteins: A2AFS3, B2RY83, O70472, O95803, P35790, P52848, P61812, P78539, Q01134, Q02353, Q08DW9, Q09LZ8, Q0VCJ8, Q38L25, Q3UHN9, Q4R5H6, Q4R766, Q5F450, Q5H8A4, Q5RES2, Q5RKN4, Q5U4X8, Q5VU57, Q5VV63, Q5XIC4, Q5ZIN0, Q5ZMH6, Q63769, Q6A051, Q6AYT7, Q6PC62, Q6UXG2, Q86W50, Q8BG28, Q8BWB6, Q8MJJ1, Q8N2K0, Q8NCR0, Q8WWQ2, Q92545
Diamond homologs: A2VDJ0, O70472, Q3U3D7, Q92545, Q08DV9
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 158 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 | 14 | 3.2× | 5e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| synaptic transmission, cholinergic | 5 | 30.9× | 2e-04 |
| acetylcholine receptor signaling pathway | 5 | 24.0× | 5e-04 |
| membrane depolarization | 5 | 19.6× | 1e-03 |
| ERAD pathway | 7 | 9.8× | 1e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
274 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 239 |
| Likely benign | 9 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
7303 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:97757380:CCGA:C | acceptor_gain | 1.0000 |
| 2:97757381:CGAC:C | acceptor_gain | 1.0000 |
| 2:97758889:TCA:T | donor_loss | 1.0000 |
| 2:97758890:CA:C | donor_loss | 1.0000 |
| 2:97758891:A:AC | donor_gain | 1.0000 |
| 2:97758891:A:T | donor_loss | 1.0000 |
| 2:97758892:C:CA | donor_gain | 1.0000 |
| 2:97758892:CT:C | donor_gain | 1.0000 |
| 2:97758892:CTG:C | donor_gain | 1.0000 |
| 2:97758892:CTGT:C | donor_gain | 1.0000 |
| 2:97758892:CTGTG:C | donor_gain | 1.0000 |
| 2:97759049:AACTT:A | acceptor_gain | 1.0000 |
| 2:97759050:ACTT:A | acceptor_loss | 1.0000 |
| 2:97759050:ACTTC:A | acceptor_gain | 1.0000 |
| 2:97759051:CTT:C | acceptor_gain | 1.0000 |
| 2:97759051:CTTC:C | acceptor_loss | 1.0000 |
| 2:97759051:CTTCT:C | acceptor_gain | 1.0000 |
| 2:97759052:TT:T | acceptor_gain | 1.0000 |
| 2:97759052:TTCTG:T | acceptor_loss | 1.0000 |
| 2:97759054:C:CC | acceptor_gain | 1.0000 |
| 2:97759054:C:T | acceptor_loss | 1.0000 |
| 2:97759055:T:A | acceptor_loss | 1.0000 |
| 2:97760910:GGTCA:G | acceptor_gain | 1.0000 |
| 2:97760912:TCAC:T | acceptor_loss | 1.0000 |
| 2:97760913:CA:C | acceptor_gain | 1.0000 |
| 2:97760913:CACT:C | acceptor_gain | 1.0000 |
| 2:97760914:ACT:A | acceptor_loss | 1.0000 |
| 2:97760915:C:CC | acceptor_gain | 1.0000 |
| 2:97760915:CTTGA:C | acceptor_loss | 1.0000 |
| 2:97760916:T:C | acceptor_gain | 1.0000 |
AlphaMissense
12330 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:97793513:C:G | A1143P | 1.000 |
| 2:97795074:A:G | L1081P | 1.000 |
| 2:97796281:A:G | F1046S | 1.000 |
| 2:97815221:A:C | Y424D | 1.000 |
| 2:97815262:A:T | V410D | 1.000 |
| 2:97815268:A:C | I408R | 1.000 |
| 2:97815268:A:T | I408K | 1.000 |
| 2:97818630:G:T | A389E | 1.000 |
| 2:97818631:C:G | A389P | 1.000 |
| 2:97818633:A:T | V388D | 1.000 |
| 2:97818717:A:T | V360D | 1.000 |
| 2:97833369:A:C | I357R | 1.000 |
| 2:97833369:A:T | I357K | 1.000 |
| 2:97833392:A:C | N349K | 1.000 |
| 2:97833392:A:T | N349K | 1.000 |
| 2:97833405:A:G | L345P | 1.000 |
| 2:97834666:A:C | Y323D | 1.000 |
| 2:97834789:A:T | V314D | 1.000 |
| 2:97834795:A:T | V312D | 1.000 |
| 2:97834801:A:G | L310P | 1.000 |
| 2:97834840:A:T | I297K | 1.000 |
| 2:97834846:A:C | I295R | 1.000 |
| 2:97834846:A:T | I295K | 1.000 |
| 2:97834848:G:C | F294L | 1.000 |
| 2:97834848:G:T | F294L | 1.000 |
| 2:97834850:A:G | F294L | 1.000 |
| 2:97834853:C:G | A293P | 1.000 |
| 2:97834888:G:T | A281D | 1.000 |
| 2:97837077:C:A | W268C | 1.000 |
| 2:97837077:C:G | W268C | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000016619 (2:97912689 C>T), RS1000016983 (2:97832972 C>T), RS1000024284 (2:97924066 C>G,T), RS1000044029 (2:97773654 G>A,T), RS1000047958 (2:97832727 T>G), RS1000060622 (2:97788512 A>C), RS1000078518 (2:97832457 G>A), RS1000114065 (2:97817023 A>G), RS1000116838 (2:97919397 G>A,C), RS1000117354 (2:97910961 A>C), RS1000127638 (2:97807928 G>A,T), RS1000130474 (2:97786995 A>C), RS1000148170 (2:97963397 A>G), RS1000149668 (2:97965272 T>C), RS1000158669 (2:97807610 C>A)
Disease associations
OMIM: gene MIM:615659 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
18 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST007932_77 | Medication use (thyroid preparations) | 5.000000e-10 |
| GCST008103_128 | Bipolar disorder | 2.000000e-06 |
| GCST008310_6 | Cardiac Troponin-T levels | 5.000000e-07 |
| GCST010697_1 | Cortical surface area (min-P) | 6.000000e-12 |
| GCST010698_17 | Subcortical volume (min-P) | 9.000000e-09 |
| GCST010699_105 | Brain morphology (min-P) | 2.000000e-11 |
| GCST010700_9 | Cortical thickness (MOSTest) | 9.000000e-14 |
| GCST010701_54 | Cortical surface area (MOSTest) | 2.000000e-16 |
| GCST010702_79 | Subcortical volume (MOSTest) | 5.000000e-09 |
| GCST010703_322 | Brain morphology (MOSTest) | 1.000000e-10 |
| GCST90002381_36 | Eosinophil count | 6.000000e-11 |
| GCST90002382_43 | Eosinophil percentage of white cells | 2.000000e-14 |
| GCST90002385_135 | High light scatter reticulocyte count | 2.000000e-09 |
| GCST90002386_251 | High light scatter reticulocyte percentage of red cells | 2.000000e-10 |
| GCST90002397_810 | Mean spheric corpuscular volume | 1.000000e-13 |
| GCST90002399_148 | Neutrophil percentage of white cells | 1.000000e-09 |
| GCST90002405_131 | Reticulocyte count | 2.000000e-13 |
| GCST90002406_24 | Reticulocyte fraction of red cells | 1.000000e-15 |
EFO canonical traits (8, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0009933 | Thyroid preparation use measurement |
| EFO:0005043 | cardiac troponin T measurement |
| EFO:0004346 | neuroimaging measurement |
| EFO:0004840 | cortical thickness |
| EFO:0004842 | eosinophil count |
| EFO:0007991 | eosinophil percentage of leukocytes |
| EFO:0007986 | reticulocyte count |
| EFO:0007990 | neutrophil percentage of leukocytes |
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 |
|---|---|---|
| Benzo(a)pyrene | increases methylation, increases mutagenesis | 2 |
| Cadmium Chloride | increases expression, decreases expression, increases abundance | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| bisphenol F | affects cotreatment, decreases methylation | 1 |
| dicrotophos | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| sodium arsenite | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| chloropicrin | increases expression | 1 |
| K 7174 | increases expression | 1 |
| bisphenol S | affects cotreatment, increases methylation, decreases methylation | 1 |
| Temozolomide | decreases expression | 1 |
| Fulvestrant | affects cotreatment, decreases methylation, increases methylation | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Cadmium | increases abundance, decreases expression | 1 |
| Caffeine | affects phosphorylation | 1 |
| Cisplatin | decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Ethyl Methanesulfonate | increases expression | 1 |
| Formaldehyde | increases expression | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Methotrexate | decreases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Dronabinol | increases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Tretinoin | increases expression | 1 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 1 |
| Cyclosporine | 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.