SERPINA7
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Summary
SERPINA7 (serpin family A member 7, HGNC:11583) is a protein-coding gene on chromosome Xq22.3, encoding Thyroxine-binding globulin (P05543). Major thyroid hormone transport protein in serum.
There are three proteins including thyroxine-binding globulin (TBG), transthyretin and albumin responsible for carrying the thyroid hormones thyroxine (T4) and 3,5,3’-triiodothyronine (T3) in the bloodstream. This gene encodes the major thyroid hormone transport protein, TBG, in serum. It belongs to the serpin family in genomics, but the protein has no inhibitory function like many other members of the serpin family. Mutations in this gene result in TGB deficiency, which has been classified as partial deficiency, complete deficiency, and excess, based on the level of serum TBG. Alternatively spliced transcript variants encoding different isoforms have been found, but the full-length nature of these variants has not been determined.
Source: NCBI Gene 6906 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 82 total — 6 pathogenic, 1 likely-pathogenic
- Druggable target: yes
- MANE Select transcript:
NM_000354
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:11583 |
| Approved symbol | SERPINA7 |
| Name | serpin family A member 7 |
| Location | Xq22.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000123561 |
| Ensembl biotype | protein_coding |
| OMIM | 314200 |
| Entrez | 6906 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 5 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000327674, ENST00000372563, ENST00000487487, ENST00000907820, ENST00000907821, ENST00000907822
RefSeq mRNA: 1 — MANE Select: NM_000354
NM_000354
CCDS: CCDS14518
Canonical transcript exons
ENST00000372563 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000840354 | 106032435 | 106033703 |
| ENSE00000840356 | 106035112 | 106035385 |
| ENSE00001458102 | 106036437 | 106037075 |
| ENSE00001458103 | 106038698 | 106038727 |
| ENSE00003660533 | 106034235 | 106034382 |
Expression profiles
Bgee: expression breadth broad, 48 present calls, max score 96.91.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.7864 / max 265.0250, expressed in 28 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 200040 | 0.7864 | 28 |
Top tissues by expression
235 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| liver | UBERON:0002107 | 96.91 | gold quality |
| right lobe of liver | UBERON:0001114 | 96.87 | gold quality |
| frontal pole | UBERON:0002795 | 65.23 | silver quality |
| middle frontal gyrus | UBERON:0002702 | 64.72 | gold quality |
| endometrium epithelium | UBERON:0004811 | 59.29 | gold quality |
| oocyte | CL:0000023 | 55.58 | gold quality |
| thymus | UBERON:0002370 | 51.59 | gold quality |
| Brodmann (1909) area 10 | UBERON:0013541 | 50.18 | gold quality |
| quadriceps femoris | UBERON:0001377 | 50.16 | gold quality |
| vastus lateralis | UBERON:0001379 | 49.49 | gold quality |
| upper leg skin | UBERON:0004262 | 49.34 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 49.30 | gold quality |
| blood vessel layer | UBERON:0004797 | 49.29 | gold quality |
| cerebellar vermis | UBERON:0004720 | 49.25 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 49.20 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 49.19 | gold quality |
| hair follicle | UBERON:0002073 | 49.18 | gold quality |
| oviduct epithelium | UBERON:0004804 | 49.12 | gold quality |
| olfactory bulb | UBERON:0002264 | 48.92 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 48.89 | gold quality |
| myocardium | UBERON:0002349 | 48.87 | gold quality |
| type B pancreatic cell | CL:0000169 | 48.83 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 48.55 | gold quality |
| CA1 field of hippocampus | UBERON:0003881 | 48.50 | gold quality |
| pancreatic ductal cell | CL:0002079 | 48.44 | silver quality |
| left ventricle myocardium | UBERON:0006566 | 48.24 | gold quality |
| orbitofrontal cortex | UBERON:0004167 | 48.20 | gold quality |
| deltoid | UBERON:0001476 | 48.09 | gold quality |
| upper arm skin | UBERON:0004263 | 48.06 | gold quality |
| cervix epithelium | UBERON:0004801 | 48.04 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 3.28 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): HNF1A, HNF1B, TCF3
miRNA regulators (miRDB)
25 targeting SERPINA7, 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-656-3P | 100.00 | 72.15 | 2788 |
| 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-539-5P | 99.93 | 70.30 | 2855 |
| HSA-MIR-1305 | 99.91 | 71.43 | 3443 |
| HSA-MIR-202-5P | 99.78 | 67.65 | 991 |
| HSA-MIR-6719-3P | 99.29 | 67.78 | 1387 |
| HSA-MIR-4705 | 99.10 | 69.10 | 1091 |
| HSA-MIR-219A-1-3P | 98.91 | 67.87 | 639 |
| HSA-MIR-3194-3P | 98.83 | 66.22 | 1167 |
| HSA-MIR-1261 | 98.62 | 68.10 | 896 |
| HSA-MIR-4662A-5P | 98.48 | 67.18 | 1007 |
| HSA-MIR-3130-5P | 98.14 | 66.00 | 711 |
| HSA-MIR-4769-3P | 97.95 | 68.17 | 1002 |
| HSA-MIR-6817-5P | 97.95 | 67.86 | 1026 |
| HSA-MIR-4482-5P | 97.53 | 65.68 | 598 |
| HSA-MIR-2278 | 97.30 | 66.19 | 1130 |
| HSA-MIR-6892-5P | 97.27 | 68.60 | 847 |
| HSA-MIR-5194 | 96.77 | 63.91 | 1021 |
| HSA-MIR-6738-5P | 96.33 | 63.61 | 815 |
| HSA-MIR-6734-5P | 95.70 | 65.56 | 950 |
| HSA-MIR-1914-3P | 95.07 | 63.37 | 762 |
| HSA-MIR-6767-3P | 93.99 | 66.01 | 204 |
Literature-anchored findings (GeneRIF, showing 18)
- an intragenic A/G polymorphism (125 bp upstream from exon 2) was identified. complete TBG deficiency was homozygous for the polymorphic TBG allele. (PMID:11889160)
- Two novel variants in the thyroxine-binding globulin gene behind the diagnosis of TBG deficiency. homozygous. One involved codon 23 (TCA–>TAA) and the other, codon 223. (PMID:11916615)
- Loop variants of the serpin thyroxine-binding globulin: implications for hormone release upon limited proteolysis. (PMID:11931635)
- guanine deletion at position 1711, codon 201 (Asp) in exon 2 (GAC –> AC) led to a frame shift and premature termination at codon 206, causing a short TBG protein of 205 amino acids (AA) compared to 395 AA of the normal TBG. (PMID:17887925)
- new serpina7 gene variant in three members of the same family results in the replacement of the normal asparagine 233 by isoleucine and, subsequently, in disruption of a glycosylation site (PMID:19415532)
- Freshly isolated TBG-Chicago exists in loop expelled conformation. At 37C, the protein readily converts to a more stable loop inserted conformation with enhanced heat stability. (PMID:20429632)
- Allosteric modulation of hormone release from thyroxine and corticosteroid-binding globulins. (PMID:21325280)
- the TBG promoter has a role in sustaining transgene expression in liver-specific pattern (PMID:22820390)
- TBG allosteric regulation is entropy driven. The presence of multiple S states may allow more efficient T4 release due to protease activity. (PMID:23458682)
- mutation in a liver-specific enhancer region of the TBG gene caused inherited TBG deficiency. To our knowledge, the present study is the first report of an inherited endocrine disorder caused by a mutation in an enhancer region. (PMID:25361180)
- THBG is a potential plasma biomarker for COPD. (PMID:28579773)
- A new SERPINA7 variant associated with thyroxine-binding globulin deficiency in three siblings. (PMID:29733970)
- Partial thyroxine-binding globulin deficiency in a family with coding region mutations in the TBG gene. (PMID:32266677)
- Compound hemizygous variants in SERPINA7 gene cause thyroxine-binding globulin deficiency. (PMID:33554479)
- The decrease of T3 / T4 is not hypothyroidism - a new mutation of Serpina7 gene results in partial thyroglobulin deficiency. (PMID:34481533)
- Identification of a novel mutation in thyroxine-binding globulin (TBG) gene associated with TBG-deficiency and its effect on the thyroid function. (PMID:34761328)
- Identification of Mutations in the Thyroxine-Binding Globulin (TBG) Gene in Patients with TBG Deficiency in Korea. (PMID:36475360)
- The first exon (exon 0) is a short noncoding sequence located 1.62 kilobase pairs (kbp) upstream from exon 1. HNF-1 site (located 65 bp upstream of the TSS) is required for the hepatocyte specific expression of the hTBG gene. (PMID:8232304)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Serpina7 | ENSMUSG00000031271 |
| rattus_norvegicus | Serpina7 | ENSRNOG00000011081 |
Paralogs (36): SERPINB1 (ENSG00000021355), SERPINB3 (ENSG00000057149), SERPIND1 (ENSG00000099937), SERPINA4 (ENSG00000100665), SERPINE1 (ENSG00000106366), SERPINI2 (ENSG00000114204), SERPINC1 (ENSG00000117601), SERPINB6 (ENSG00000124570), SERPINF1 (ENSG00000132386), AGT (ENSG00000135744), SERPINE2 (ENSG00000135919), SERPINA10 (ENSG00000140093), SERPING1 (ENSG00000149131), SERPINH1 (ENSG00000149257), SERPINI1 (ENSG00000163536), SERPINA12 (ENSG00000165953), SERPINB7 (ENSG00000166396), SERPINB8 (ENSG00000166401), SERPINB12 (ENSG00000166634), SERPINF2 (ENSG00000167711), SERPINA9 (ENSG00000170054), SERPINA6 (ENSG00000170099), SERPINB9 (ENSG00000170542), SERPINA11 (ENSG00000186910), SERPINA5 (ENSG00000188488), SERPINA3 (ENSG00000196136), SERPINA1 (ENSG00000197249), SERPINB2 (ENSG00000197632), SERPINB13 (ENSG00000197641), SERPINB11 (ENSG00000206072), SERPINB4 (ENSG00000206073), SERPINB5 (ENSG00000206075), HMSD (ENSG00000221887), SERPINB10 (ENSG00000242550), SERPINE3 (ENSG00000253309), SERPINA2 (ENSG00000258597)
Protein
Protein identifiers
Thyroxine-binding globulin — P05543 (reviewed: P05543)
Alternative names: Serpin A7, T4-binding globulin
All UniProt accessions (1): P05543
UniProt curated annotations — full annotation on UniProt →
Function. Major thyroid hormone transport protein in serum.
Subcellular location. Secreted.
Tissue specificity. Expressed by the liver and secreted in plasma.
Polymorphism. Genetic variants in SERPINA7 influence the serum levels of thyroxine-binding globulin and define the thyroxine-binding globulin quantitative trait locus (TBGQTL) [MIM:300932]. Individuals with low or high serum levels of thyroxine-binding globulin show, respectively, reduced or elevated protein-bound iodine but are euthyroid and do not manifest major metabolic alterations. Two qualitative TBG variants occur in particular populations. TBG-A is found in 40% of Australian aborigines, it has reduced affinity for thyroxine and triiodothyroxine and increased susceptibility to inactivation by heat or acid. TBG-S (’s’ for slow shift on isoelectic focusing) is found in blacks, Eskimos, Melanesians, Polynesians and Indonesians, but not in Caucasians; TBG-S is slightly more thermolabile.
Similarity. Belongs to the serpin family.
RefSeq proteins (1): NP_000345* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000215 | Serpin_fam | Family |
| IPR023795 | Serpin_CS | Conserved_site |
| IPR023796 | Serpin_dom | Domain |
| IPR036186 | Serpin_sf | Homologous_superfamily |
| IPR042178 | Serpin_sf_1 | Homologous_superfamily |
| IPR042185 | Serpin_sf_2 | Homologous_superfamily |
Pfam: PF00079
UniProt features (52 total): strand 15, helix 11, sequence variant 9, turn 5, glycosylation site 5, sequence conflict 3, binding site 2, signal peptide 1, chain 1
Structure
Experimental structures (PDB)
9 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2XN6 | X-RAY DIFFRACTION | 1.29 |
| 2XN7 | X-RAY DIFFRACTION | 1.43 |
| 2RIV | X-RAY DIFFRACTION | 1.5 |
| 4X30 | X-RAY DIFFRACTION | 1.55 |
| 4YIA | X-RAY DIFFRACTION | 1.58 |
| 2XN5 | X-RAY DIFFRACTION | 1.7 |
| 2RIW | X-RAY DIFFRACTION | 2.04 |
| 2XN3 | X-RAY DIFFRACTION | 2.09 |
| 2CEO | X-RAY DIFFRACTION | 2.8 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P05543-F1 | 87.48 | 0.74 |
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): 293; 398
Glycosylation sites (5): 36, 99, 116, 165, 253
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 66 (showing top):
GOBP_REGULATION_OF_HORMONE_LEVELS, GOBP_HORMONE_TRANSPORT, HNF1_Q6, CEBP_Q2, HSIAO_LIVER_SPECIFIC_GENES, HNF1_C, HNF1_01, TTTNNANAGCYR_UNKNOWN, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, CHIANG_LIVER_CANCER_SUBCLASS_INTERFERON_UP, MODULE_112, GOMF_PEPTIDASE_REGULATOR_ACTIVITY, GOMF_SERINE_TYPE_ENDOPEPTIDASE_INHIBITOR_ACTIVITY, GOMF_ENZYME_INHIBITOR_ACTIVITY, GOMF_ENZYME_REGULATOR_ACTIVITY
GO Biological Process (1): thyroid hormone transport (GO:0070327)
GO Molecular Function (1): serine-type endopeptidase inhibitor activity (GO:0004867)
GO Cellular Component (3): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), extracellular exosome (GO:0070062)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| hormone transport | 1 |
| serine-type endopeptidase activity | 1 |
| endopeptidase inhibitor activity | 1 |
| cellular anatomical structure | 1 |
| extracellular vesicle | 1 |
Protein interactions and networks
STRING
1056 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SERPINA7 | TTR | P02766 | 976 |
| SERPINA7 | ALB | P02768 | 848 |
| SERPINA7 | SHBG | P04278 | 753 |
| SERPINA7 | TRH | P20396 | 748 |
| SERPINA7 | TG | P01266 | 670 |
| SERPINA7 | DIO2 | Q92813 | 668 |
| SERPINA7 | TSPAN4 | O14817 | 643 |
| SERPINA7 | DIO1 | P49895 | 630 |
| SERPINA7 | THRB | P10828 | 592 |
| SERPINA7 | DIO3 | P55073 | 590 |
| SERPINA7 | GC | P02774 | 585 |
| SERPINA7 | TSHR | P16473 | 578 |
| SERPINA7 | SLC16A2 | P36021 | 571 |
| SERPINA7 | ARSB | P15848 | 506 |
| SERPINA7 | AFP | P02771 | 504 |
IntAct
4 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RIPK4 | VWA8 | psi-mi:“MI:0914”(association) | 0.350 |
| SERPINA7 | RTL8C | psi-mi:“MI:0914”(association) | 0.350 |
| SERPINA7 | ERF | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (15): MIA3 (Affinity Capture-MS), FAM127A (Affinity Capture-MS), DHFRL1 (Affinity Capture-MS), ERF (Affinity Capture-MS), DHFRL1 (Affinity Capture-MS), FAM127A (Affinity Capture-MS), MIA3 (Affinity Capture-MS), SERPINA7 (Affinity Capture-MS), SERPINA7 (Affinity Capture-MS), ERF (Affinity Capture-MS), DHFRL1 (Affinity Capture-MS), MIA3 (Affinity Capture-MS), SERPINA7 (Affinity Capture-MS), SERPINA7 (Proximity Label-MS), SERPINA7 (Affinity Capture-MS)
ESM2 similar proteins: A2I7M9, A2I7N0, A2I7N1, A2I7N2, A2I7N3, A6QPQ2, B2D1U1, E1BF81, O54762, P01011, P05154, P05543, P05544, P05545, P07759, P08185, P09006, P20848, P22323, P22324, P22325, P23775, P26595, P29621, P29622, P31211, P35577, P49920, P50451, P61640, P61939, Q00896, Q00897, Q00898, Q03734, Q3ZEJ6, Q5I2A0, Q5R536, Q5R9E3, Q5RCR2
Diamond homologs: A2I7M9, A2I7N0, A2I7N1, A2I7N2, A2I7N3, A6QPQ2, B2D1U1, E1BF81, O00394, O54757, O54758, O54759, O54760, O54761, O54762, O54763, O75830, P01009, P01010, P01011, P05154, P05543, P05544, P05545, P05619, P07758, P07759, P08185, P09005, P09006, P12725, P17475, P20848, P22323, P22324, P22325, P22599, P23035, P23775, P26595
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
82 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 6 |
| Likely pathogenic | 1 |
| Uncertain significance | 41 |
| Likely benign | 8 |
| Benign | 4 |
Top pathogenic / likely-pathogenic (7)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1323575 | NM_000354.6(SERPINA7):c.804_805del (p.Phe269fs) | Pathogenic |
| 4075315 | NM_000354.6(SERPINA7):c.1117_1118delinsCAG (p.Ser373fs) | Pathogenic |
| 816377 | GRCh37/hg19 Xq22.3(chrX:104728884-105652106)x0 | Pathogenic |
| 9786 | NM_000354.5(SERPINA7):c.571G>A (p.Asp191Asn) | Pathogenic |
| 9790 | NM_000354.5(SERPINA7):c.347T>A (p.Ile116Asn) | Pathogenic |
| 9792 | NM_000354.5(SERPINA7):c.986A>T (p.Tyr329Phe) | Pathogenic |
| 9791 | NM_000354.6(SERPINA7):c.1114del (p.Leu372fs) | Likely pathogenic |
SpliceAI
488 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| X:106034233:A:AC | donor_gain | 1.0000 |
| X:106034234:C:CC | donor_gain | 1.0000 |
| X:106034378:CCCAT:C | acceptor_gain | 1.0000 |
| X:106034379:CCAT:C | acceptor_gain | 1.0000 |
| X:106034379:CCATC:C | acceptor_gain | 1.0000 |
| X:106034380:CAT:C | acceptor_gain | 1.0000 |
| X:106034380:CATC:C | acceptor_gain | 1.0000 |
| X:106035110:ACC:A | donor_gain | 1.0000 |
| X:106035111:CCC:C | donor_gain | 1.0000 |
| X:106035137:T:TA | donor_gain | 1.0000 |
| X:106035381:CTGGG:C | acceptor_gain | 1.0000 |
| X:106035382:TGGG:T | acceptor_gain | 1.0000 |
| X:106035383:GGG:G | acceptor_gain | 1.0000 |
| X:106035384:GG:G | acceptor_gain | 1.0000 |
| X:106035385:GC:G | acceptor_loss | 1.0000 |
| X:106035386:C:CA | acceptor_loss | 1.0000 |
| X:106035386:C:CC | acceptor_gain | 1.0000 |
| X:106035387:T:C | acceptor_gain | 1.0000 |
| X:106035387:T:TC | acceptor_gain | 1.0000 |
| X:106035392:A:AC | acceptor_gain | 1.0000 |
| X:106035392:A:C | acceptor_gain | 1.0000 |
| X:106036431:TCTTA:T | donor_loss | 1.0000 |
| X:106036432:CTTAC:C | donor_loss | 1.0000 |
| X:106036433:TTA:T | donor_loss | 1.0000 |
| X:106036434:TA:T | donor_loss | 1.0000 |
| X:106036436:C:CT | donor_loss | 1.0000 |
| X:106034227:CAACT:C | donor_loss | 0.9900 |
| X:106034228:AACTT:A | donor_loss | 0.9900 |
| X:106034229:ACT:A | donor_loss | 0.9900 |
| X:106034230:CT:C | donor_loss | 0.9900 |
AlphaMissense
2757 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| X:106035333:G:C | F225L | 0.975 |
| X:106035333:G:T | F225L | 0.975 |
| X:106035335:A:G | F225L | 0.975 |
| X:106035241:A:T | V256D | 0.972 |
| X:106033575:G:C | F391L | 0.970 |
| X:106033575:G:T | F391L | 0.970 |
| X:106033577:A:G | F391L | 0.970 |
| X:106035366:A:C | F214L | 0.970 |
| X:106035366:A:T | F214L | 0.970 |
| X:106035368:A:G | F214L | 0.970 |
| X:106035199:A:T | V270D | 0.969 |
| X:106035134:A:G | W292R | 0.967 |
| X:106035134:A:T | W292R | 0.967 |
| X:106035380:A:G | W210R | 0.966 |
| X:106035380:A:T | W210R | 0.966 |
| X:106035378:C:A | W210C | 0.962 |
| X:106035378:C:G | W210C | 0.962 |
| X:106035238:A:G | L257P | 0.959 |
| X:106036654:G:C | F135L | 0.955 |
| X:106036654:G:T | F135L | 0.955 |
| X:106036656:A:G | F135L | 0.955 |
| X:106036843:G:C | S72R | 0.950 |
| X:106036843:G:T | S72R | 0.950 |
| X:106036845:T:G | S72R | 0.950 |
| X:106034365:A:T | V305D | 0.949 |
| X:106035246:G:C | C254W | 0.942 |
| X:106035248:A:G | C254R | 0.941 |
| X:106035132:C:A | W292C | 0.939 |
| X:106035132:C:G | W292C | 0.939 |
| X:106036621:G:C | F146L | 0.939 |
dbSNP variants (sampled 300 via entrez): RS1000131785 (X:106032353 A>G), RS1000461401 (X:106032884 T>G), RS1001010671 (X:106034742 G>A), RS1001087007 (X:106034593 T>C), RS1001629182 (X:106035600 G>A), RS1001933253 (X:106039938 G>A), RS1002017651 (X:106035282 T>G), RS1002608899 (X:106035439 C>T), RS1002614055 (X:106033577 A>G), RS1003076038 (X:106033925 C>T), RS1003458620 (X:106039896 G>A), RS1003586440 (X:106038371 C>T), RS1004811736 (X:106035243 T>C), RS1005816464 (X:106033516 T>C), RS1006428158 (X:106035863 C>T)
Disease associations
OMIM: gene MIM:314200 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST009391_1040 | Metabolite levels | 6.000000e-14 |
| GCST009391_1042 | Metabolite levels | 6.000000e-11 |
| GCST009391_1654 | Metabolite levels | 4.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0010469 | carnitine measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL3843 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
71 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | affects expression, affects binding, decreases reaction, decreases methylation | 4 |
| Benzo(a)pyrene | decreases expression, increases expression | 4 |
| Tetrachlorodibenzodioxin | decreases expression | 4 |
| Thyroxine | affects binding, decreases reaction | 4 |
| Cyclosporine | decreases expression | 4 |
| sodium arsenite | decreases expression, increases expression | 2 |
| perfluorooctane sulfonic acid | decreases expression | 2 |
| Acetaminophen | affects cotreatment, decreases expression | 2 |
| Triiodothyronine | affects binding | 2 |
| Aflatoxin B1 | affects expression, decreases methylation | 2 |
| dicrotophos | decreases expression | 1 |
| decabromobiphenyl ether | decreases expression, increases abundance | 1 |
| tris(2-butoxyethyl) phosphate | affects expression | 1 |
| norgestimate | affects cotreatment, increases expression | 1 |
| tetrabromobisphenol A | affects binding, decreases reaction | 1 |
| beta-hexachlorocyclohexane | decreases expression | 1 |
| 2,2’,3’,4,4’,5-hexachlorobiphenyl | decreases expression | 1 |
| 3,5-dichlorobiphenyl | affects binding, decreases reaction | 1 |
| benazol P | affects expression | 1 |
| tetrachlorodian | affects binding, decreases reaction | 1 |
| gallium arsenide | increases expression | 1 |
| 2,3,3’,4,4’-pentachlorobiphenyl | decreases expression | 1 |
| 2,3’,4,4’,5-pentachlorobiphenyl | decreases expression | 1 |
| 1,2-bis(2,4,6-tribromophenoxy)ethane | increases abundance, increases expression | 1 |
| 3,5-dibromo-2-(2,4-dibromophenoxy)phenol | affects binding | 1 |
| pentabromodiphenyl ether | affects binding | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| entinostat | decreases expression | 1 |
| 2,2’,4,4’,5-brominated diphenyl ether | increases abundance, increases expression | 1 |
| 2,2’,3,4,4’,5’,6-heptabromodiphenyl ether | decreases expression, increases abundance | 1 |
ChEMBL screening assays
4 unique, capped per target: 3 binding, 1 admet
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL3285084 | Binding | Binding affinity to thyroxine binding globulin (unknown origin) relative to T4 | Thyroxine analogues. 23. Quantitative structure-activity correlation studies of in vivo and in vitro thyromimetic activities. — J Med Chem |
| CHEMBL3862358 | ADMET | Displacement of [125I]-T4 from TBG in human plasma after 1 hr by PAGE analysis | A novel bis-furan scaffold for transthyretin stabilization and amyloid inhibition. — Eur J Med Chem |
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.