TSHZ2
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Also known as ZABC2OVC10-2TSH2
Summary
TSHZ2 (teashirt zinc finger homeobox 2, HGNC:13010) is a protein-coding gene on chromosome 20q13.2, encoding Teashirt homolog 2 (Q9NRE2). Probable transcriptional regulator involved in developmental processes.
This gene is a member of the teashirt C2H2-type zinc-finger protein family of transcription factors. This gene encodes a protein with five C2H2-type zinc fingers, a homeobox DNA-binding domain and a coiled-coil domain. This nuclear protein is predicted to act as a transcriptional repressor. This gene is thought to play a role in the development and progression of breast and other types of cancer. Alternative splicing results in multiple transcript variants encoding different isoforms.
Source: NCBI Gene 128553 — RefSeq curated summary.
At a glance
- GWAS associations: 39
- Clinical variants (ClinVar): 177 total
- MANE Select transcript:
NM_173485
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:13010 |
| Approved symbol | TSHZ2 |
| Name | teashirt zinc finger homeobox 2 |
| Location | 20q13.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ZABC2, OVC10-2, TSH2 |
| Ensembl gene | ENSG00000182463 |
| Ensembl biotype | protein_coding |
| OMIM | 614118 |
| Entrez | 128553 |
Gene structure
Transcript identifiers
Ensembl transcripts: 4 — 3 protein_coding, 1 nonsense_mediated_decay
ENST00000371497, ENST00000603338, ENST00000605656, ENST00000626626
RefSeq mRNA: 2 — MANE Select: NM_173485
NM_001193421, NM_173485
CCDS: CCDS33490, CCDS54474
Canonical transcript exons
ENST00000371497 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001455378 | 53487144 | 53495330 |
| ENSE00001455380 | 53253499 | 53256571 |
| ENSE00001455381 | 52972358 | 52973333 |
Expression profiles
Bgee: expression breadth ubiquitous, 230 present calls, max score 94.74.
FANTOM5 (CAGE): breadth broad, TPM avg 5.3915 / max 301.4259, expressed in 729 samples.
FANTOM5 promoters (10 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 185328 | 3.0106 | 615 |
| 185330 | 0.8350 | 309 |
| 185335 | 0.4477 | 229 |
| 185334 | 0.3181 | 163 |
| 185337 | 0.2645 | 96 |
| 185336 | 0.1699 | 81 |
| 185329 | 0.1187 | 44 |
| 185333 | 0.1136 | 54 |
| 185331 | 0.0919 | 31 |
| 185332 | 0.0215 | 6 |
Top tissues by expression
274 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| buccal mucosa cell | CL:0002336 | 94.74 | gold quality |
| corpus epididymis | UBERON:0004359 | 90.38 | gold quality |
| caput epididymis | UBERON:0004358 | 90.17 | gold quality |
| parietal pleura | UBERON:0002400 | 89.38 | gold quality |
| mammary duct | UBERON:0001765 | 88.96 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 88.13 | gold quality |
| omental fat pad | UBERON:0010414 | 87.88 | gold quality |
| peritoneum | UBERON:0002358 | 87.85 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 87.67 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 87.26 | gold quality |
| cauda epididymis | UBERON:0004360 | 86.99 | gold quality |
| right ovary | UBERON:0002118 | 86.40 | gold quality |
| mammary gland | UBERON:0001911 | 86.23 | gold quality |
| thoracic mammary gland | UBERON:0005200 | 86.15 | gold quality |
| adrenal tissue | UBERON:0018303 | 85.96 | gold quality |
| pleura | UBERON:0000977 | 85.57 | gold quality |
| left ovary | UBERON:0002119 | 85.29 | gold quality |
| colonic epithelium | UBERON:0000397 | 85.24 | gold quality |
| right adrenal gland | UBERON:0001233 | 85.16 | gold quality |
| left adrenal gland | UBERON:0001234 | 85.16 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 85.09 | gold quality |
| adrenal gland | UBERON:0002369 | 84.95 | gold quality |
| ovary | UBERON:0000992 | 84.38 | gold quality |
| adrenal cortex | UBERON:0001235 | 84.29 | gold quality |
| adipose tissue | UBERON:0001013 | 84.07 | gold quality |
| gall bladder | UBERON:0002110 | 83.91 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 83.82 | gold quality |
| connective tissue | UBERON:0002384 | 83.55 | gold quality |
| olfactory bulb | UBERON:0002264 | 83.35 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 83.25 | gold quality |
Single-cell (SCXA)
Detected in 18 experiment(s), a significant marker in 18.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-2 | yes | 6075.89 |
| E-HCAD-35 | yes | 2472.77 |
| E-MTAB-11268 | yes | 2147.43 |
| E-HCAD-30 | yes | 1810.68 |
| E-HCAD-25 | yes | 1694.96 |
| E-MTAB-9906 | yes | 836.11 |
| E-MTAB-9841 | yes | 661.97 |
| E-CURD-95 | yes | 271.40 |
| E-GEOD-135922 | yes | 163.98 |
| E-MTAB-8142 | yes | 46.74 |
| E-GEOD-134144 | yes | 45.63 |
| E-HCAD-10 | yes | 33.88 |
| E-MTAB-6701 | yes | 29.72 |
| E-CURD-119 | yes | 25.38 |
| E-ANND-3 | yes | 16.02 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
269 targeting TSHZ2, 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-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-6748-5P | 100.00 | 65.81 | 1057 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-3134 | 100.00 | 66.43 | 777 |
| HSA-MIR-432-3P | 100.00 | 67.86 | 705 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-12118 | 100.00 | 65.88 | 1270 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-4776-3P | 100.00 | 68.73 | 1340 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-6077 | 99.99 | 68.04 | 2299 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-3185 | 99.99 | 68.12 | 1959 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-33A-5P | 99.99 | 68.62 | 1055 |
| HSA-MIR-33B-5P | 99.99 | 68.58 | 1062 |
| HSA-MIR-513B-5P | 99.99 | 69.96 | 2150 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-568 | 99.98 | 69.86 | 2084 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-3692-3P | 99.98 | 70.27 | 2139 |
| HSA-MIR-103A-3P | 99.98 | 69.14 | 1595 |
| HSA-MIR-107 | 99.98 | 69.14 | 1595 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
Literature-anchored findings (GeneRIF, showing 5)
- Mutations in TSHZ2 and TSHZ3 are not a major cause of pelvi-ureteric junction obstruction, at least in Albanian and Macedonian populations. (PMID:19745106)
- TSHZ3 gene promoter was found to be methylated in all the breast/prostate cancer cell lines and some of the breast cancer clinical specimens while the TSHZ2 gene promoter was unmethylated except for the MDA-MB-231 breast cancer cell line. (PMID:21423795)
- Down-regulation of TSHZ2 is crucial for mammary tumorigenesis via the activation of GLI1. (PMID:26744317)
- Overexpression of Teashirt Homolog 2 suppresses cell proliferation and predicts the favorable survival of Lung Adenocarcinoma. (PMID:33850468)
- TSHZ2 is an EGF-regulated tumor suppressor that binds to the cytokinesis regulator PRC1 and inhibits metastasis. (PMID:34158398)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | tshz2 | ENSDARG00000079201 |
| mus_musculus | Tshz2 | ENSMUSG00000047907 |
| rattus_norvegicus | Tshz2 | ENSRNOG00000048433 |
| drosophila_melanogaster | tsh | FBGN0003866 |
| drosophila_melanogaster | tio | FBGN0028979 |
Paralogs (2): TSHZ3 (ENSG00000121297), TSHZ1 (ENSG00000179981)
Protein
Protein identifiers
Teashirt homolog 2 — Q9NRE2 (reviewed: Q9NRE2)
Alternative names: Ovarian cancer-related protein 10-2, Zinc finger protein 218
All UniProt accessions (3): Q9NRE2, B1H0U8, S4R3C8
UniProt curated annotations — full annotation on UniProt →
Function. Probable transcriptional regulator involved in developmental processes. May act as a transcriptional repressor (Potential).
Subunit / interactions. Interacts (via homeobox domain) with APBB1 (via PID domain 1).
Subcellular location. Nucleus.
Tissue specificity. Expressed in brain; strongly reduced in post-mortem elderly subjects with Alzheimer disease.
Post-translational modifications. Sumoylated.
Similarity. Belongs to the teashirt C2H2-type zinc-finger protein family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9NRE2-1 | 1 | yes |
| Q9NRE2-2 | 2 |
RefSeq proteins (2): NP_001180350, NP_775756* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001356 | HD | Domain |
| IPR013087 | Znf_C2H2_type | Domain |
| IPR027008 | Teashirt_fam | Family |
| IPR058631 | TSHZ1-3_homeodomain | Domain |
Pfam: PF26094
UniProt features (40 total): cross-link 12, region of interest 6, zinc finger region 5, compositionally biased region 5, sequence conflict 5, sequence variant 2, chain 1, coiled-coil region 1, modified residue 1, splice variant 1, DNA-binding region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NRE2-F1 | 54.88 | 0.10 |
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 (13): 980, 188, 306, 315, 417, 461, 480, 497, 601, 652, 800, 820, 966
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 245 (showing top):
WANG_CLIM2_TARGETS_UP, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, CREBP1_Q2, FOXD3_01, NKX61_01, PAX8_B, TCF4_Q5, HFH8_01, TGIF_01, HFH4_01, HFH3_01, LIAO_METASTASIS, TGACATY_UNKNOWN, TURASHVILI_BREAST_DUCTAL_CARCINOMA_VS_DUCTAL_NORMAL_DN, HFH1_01
GO Biological Process (2): regulation of transcription by RNA polymerase II (GO:0006357), regulation of gene expression (GO:0010468)
GO Molecular Function (5): DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA binding (GO:0003677), zinc ion binding (GO:0008270), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (2): chromatin (GO:0000785), nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| regulation of DNA-templated transcription | 1 |
| transcription by RNA polymerase II | 1 |
| gene expression | 1 |
| regulation of macromolecule biosynthetic process | 1 |
| chromatin | 1 |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 1 |
| DNA-binding transcription factor activity | 1 |
| regulation of transcription by RNA polymerase II | 1 |
| nucleic acid binding | 1 |
| transition metal ion binding | 1 |
| binding | 1 |
| cation binding | 1 |
| chromosome | 1 |
| cellular anatomical structure | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
874 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TSHZ2 | GLI1 | P08151 | 492 |
| TSHZ2 | LGALS4 | P56470 | 488 |
| TSHZ2 | CBY1 | Q9Y3M2 | 452 |
| TSHZ2 | SMARCE1 | Q969G3 | 442 |
| TSHZ2 | EXD1 | Q8NHP7 | 438 |
| TSHZ2 | HOXA7 | P31268 | 423 |
| TSHZ2 | ZFHX2 | Q9C0A1 | 423 |
| TSHZ2 | ZFP64 | Q9NTW7 | 400 |
| TSHZ2 | ZSCAN2 | Q7Z7L9 | 378 |
| TSHZ2 | D6RC18 | D6RC18 | 372 |
| TSHZ2 | KIF26A | Q9ULI4 | 355 |
| TSHZ2 | ZNF503 | Q96F45 | 340 |
| TSHZ2 | HMX1 | Q9NP08 | 336 |
| TSHZ2 | CFAP20DC | Q6ZVT6 | 321 |
| TSHZ2 | PKNOX2 | Q96KN3 | 321 |
| TSHZ2 | TSKU | Q8WUA8 | 321 |
IntAct
62 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TSHZ2 | COG3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TSHZ2 | PHAF1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RINT1 | TSHZ2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MCC | TSHZ2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TRAF1 | TSHZ2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CCDC88B | TSHZ2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TSHZ2 | TFIP11 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BACH2 | TSHZ2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SPTA1 | TSHZ2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GRIPAP1 | TSHZ2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RABEP1 | TSHZ2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CRACR2B | TSHZ2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CCDC57 | TSHZ2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TRAF2 | TSHZ2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GIGYF1 | TSHZ2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GOLGA2 | TSHZ2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CNTROB | TSHZ2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PIBF1 | TSHZ2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| COG3 | TSHZ2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PHAF1 | TSHZ2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PNMA1 | TSHZ2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PYCARD | MYO1C | psi-mi:“MI:0914”(association) | 0.350 |
| TSHZ1 | MEIS2 | psi-mi:“MI:0914”(association) | 0.350 |
| TSHZ2 | NDUFS4 | psi-mi:“MI:0914”(association) | 0.350 |
| RBBP4 | PHF20L1 | psi-mi:“MI:0914”(association) | 0.350 |
| TSHZ2 | RINT1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| TSHZ2 | MCC | psi-mi:“MI:0915”(physical association) | 0.000 |
| TSHZ2 | TRAF1 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (36): TSHZ2 (Affinity Capture-MS), TSHZ2 (Biochemical Activity), TSHZ2 (Affinity Capture-RNA), TSHZ2 (Affinity Capture-RNA), TSHZ2 (Two-hybrid), TSHZ2 (Two-hybrid), TSHZ2 (Two-hybrid), TSHZ2 (Two-hybrid), TSHZ2 (Two-hybrid), TSHZ2 (Two-hybrid), TSHZ2 (Two-hybrid), TSHZ2 (Two-hybrid), TSHZ2 (Two-hybrid), TSHZ2 (Two-hybrid), TSHZ2 (Two-hybrid)
ESM2 similar proteins: A0A0R4IYX6, A0A1D5NVS8, A0A1L8H0H2, A0AVK6, A5GFT6, A7XYH5, A7XYJ6, B7ZS37, B8A5Y1, D4A666, E1B7L7, E1BKK0, E1BLP6, F1LMN3, F6YVB9, F8VPJ6, Q12766, Q13029, Q14B70, Q2HNT1, Q2HNT2, Q2KHR2, Q4V9H5, Q58FA4, Q5DTH5, Q5ZIE8, Q5ZIX8, Q5ZJ69, Q5ZM88, Q63679, Q63755, Q68FE9, Q69ZF8, Q6DRC5, Q6P4F7, Q6PCM1, Q6ZSZ6, Q76L83, Q80Y19, Q8BHZ4
Diamond homologs: A5GFT6, B3DJM5, D3ZKB9, P22265, Q2HNT1, Q2HNT2, Q5DTH5, Q63HK5, Q68FE9, Q6ZSZ6, Q8CGV9, Q9NRE2, Q9U3V5
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
177 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 161 |
| Likely benign | 6 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3333 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 20:53253494:TGCA:T | acceptor_loss | 1.0000 |
| 20:53253497:A:AG | acceptor_gain | 1.0000 |
| 20:53253497:AGG:A | acceptor_loss | 1.0000 |
| 20:53253498:G:GG | acceptor_gain | 1.0000 |
| 20:53253498:GGC:G | acceptor_gain | 1.0000 |
| 20:53253497:AG:A | acceptor_gain | 0.9900 |
| 20:53253498:GG:G | acceptor_gain | 0.9900 |
| 20:53253498:GGCT:G | acceptor_gain | 0.9900 |
| 20:53253498:GGCTA:G | acceptor_gain | 0.9900 |
| 20:53256443:GT:G | donor_gain | 0.9900 |
| 20:53257773:T:G | donor_gain | 0.9900 |
| 20:53021933:T:TG | donor_gain | 0.9800 |
| 20:53142384:G:GT | donor_gain | 0.9800 |
| 20:53142394:GC:G | donor_gain | 0.9800 |
| 20:53178148:T:A | acceptor_gain | 0.9800 |
| 20:53494870:GCA:G | acceptor_gain | 0.9800 |
| 20:52973331:CAGG:C | donor_loss | 0.9700 |
| 20:52973332:AGGT:A | donor_loss | 0.9700 |
| 20:52973333:GGT:G | donor_loss | 0.9700 |
| 20:52973334:G:T | donor_loss | 0.9700 |
| 20:52973335:T:G | donor_loss | 0.9700 |
| 20:52996488:T:TA | donor_gain | 0.9700 |
| 20:52996489:A:AA | donor_gain | 0.9700 |
| 20:53037559:T:G | acceptor_gain | 0.9700 |
| 20:53142423:TCAC:T | donor_gain | 0.9700 |
| 20:53256445:G:GG | donor_gain | 0.9700 |
| 20:53270359:GCCT:G | donor_gain | 0.9700 |
| 20:53021924:G:GG | donor_gain | 0.9600 |
| 20:53142399:T:G | donor_gain | 0.9600 |
| 20:53178150:C:CA | acceptor_gain | 0.9600 |
AlphaMissense
6877 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 20:52973301:G:T | R3M | 1.000 |
| 20:53254102:T:C | F215S | 1.000 |
| 20:53254107:T:C | C217R | 1.000 |
| 20:53254109:C:G | C217W | 1.000 |
| 20:53254147:T:C | L230P | 1.000 |
| 20:53254282:T:A | L275Q | 1.000 |
| 20:53254282:T:C | L275P | 1.000 |
| 20:53254287:T:A | C277S | 1.000 |
| 20:53254287:T:C | C277R | 1.000 |
| 20:53254288:G:A | C277Y | 1.000 |
| 20:53254288:G:C | C277S | 1.000 |
| 20:53254288:G:T | C277F | 1.000 |
| 20:53254289:T:G | C277W | 1.000 |
| 20:53254296:T:C | C280R | 1.000 |
| 20:53254297:G:A | C280Y | 1.000 |
| 20:53254297:G:T | C280F | 1.000 |
| 20:53254298:T:G | C280W | 1.000 |
| 20:53254308:T:C | F284L | 1.000 |
| 20:53254309:T:C | F284S | 1.000 |
| 20:53254310:T:A | F284L | 1.000 |
| 20:53254310:T:G | F284L | 1.000 |
| 20:53254318:T:A | L287H | 1.000 |
| 20:53254327:T:C | L290S | 1.000 |
| 20:53254327:T:G | L290W | 1.000 |
| 20:53254329:A:C | S291R | 1.000 |
| 20:53254331:C:A | S291R | 1.000 |
| 20:53254331:C:G | S291R | 1.000 |
| 20:53254335:C:G | H293D | 1.000 |
| 20:53254339:T:A | M294K | 1.000 |
| 20:53254339:T:C | M294T | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000002403 (20:53361489 C>CT), RS1000004407 (20:53390838 C>T), RS1000013651 (20:53304085 A>G), RS1000016957 (20:53311536 C>T), RS1000021059 (20:53072401 G>A), RS1000022510 (20:53462037 G>A), RS1000023505 (20:53492442 A>G), RS1000024801 (20:53228908 G>T), RS1000028262 (20:53110705 G>A), RS1000031476 (20:53207852 G>T), RS1000034347 (20:53027142 A>G), RS1000036726 (20:53105658 A>AT), RS1000049841 (20:52990797 G>A), RS1000060834 (20:53368062 C>T), RS1000062685 (20:53304348 T>C)
Disease associations
OMIM: gene MIM:614118 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): primary amenorrhea (MONDO:1060208)
Orphanet (1): Microphthalmia-anophthalmia-coloboma (Orphanet:98555)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
39 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000499_6 | Hemoglobin | 1.000000e-10 |
| GCST003059_22 | Parkinson’s disease | 1.000000e-06 |
| GCST003560_18 | Coronary artery aneurysm in Kawasaki disease | 7.000000e-06 |
| GCST004125_21 | Type 2 diabetes (age of onset) | 5.000000e-06 |
| GCST005441_11 | Alcohol consumption (max-drinks) | 9.000000e-06 |
| GCST005651_9 | Urinary metabolite levels in chronic kidney disease | 3.000000e-08 |
| GCST007324_103 | Adventurousness | 1.000000e-08 |
| GCST007325_1 | General risk tolerance (MTAG) | 5.000000e-09 |
| GCST007325_115 | General risk tolerance (MTAG) | 4.000000e-10 |
| GCST007798_111 | Asthma | 5.000000e-10 |
| GCST007800_84 | Asthma (childhood onset) | 1.000000e-07 |
| GCST008477_34 | Emphysema annual change measurement in smokers (adjusted lung density) | 4.000000e-06 |
| GCST008477_9 | Emphysema annual change measurement in smokers (adjusted lung density) | 3.000000e-06 |
| GCST009307_9 | Spatial memory | 3.000000e-06 |
| GCST009379_300 | Type 2 diabetes | 7.000000e-09 |
| GCST009615_21 | Triglyceride levels x loop diuretics use interaction | 9.000000e-06 |
| GCST010241_316 | Apolipoprotein A1 levels | 2.000000e-08 |
| GCST010244_371 | Triglyceride levels | 6.000000e-11 |
| GCST010577_8 | Crohn’s disease | 8.000000e-06 |
| GCST012490_39 | Femur bone mineral density x serum urate levels interaction | 8.000000e-12 |
| GCST012490_602 | Femur bone mineral density x serum urate levels interaction | 2.000000e-10 |
| GCST90000047_266 | Age at first sexual intercourse | 3.000000e-08 |
| GCST90020024_807 | A body shape index | 3.000000e-14 |
| GCST90020024_808 | A body shape index | 2.000000e-17 |
| GCST90020025_1682 | Waist-to-hip ratio adjusted for BMI | 5.000000e-10 |
| GCST90020025_1683 | Waist-to-hip ratio adjusted for BMI | 2.000000e-09 |
| GCST90020025_1684 | Waist-to-hip ratio adjusted for BMI | 3.000000e-16 |
| GCST90020025_1760 | Waist-to-hip ratio adjusted for BMI | 1.000000e-26 |
| GCST90020025_1761 | Waist-to-hip ratio adjusted for BMI | 3.000000e-10 |
| GCST90020025_1762 | Waist-to-hip ratio adjusted for BMI | 2.000000e-08 |
EFO canonical traits (12, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004509 | hemoglobin measurement |
| EFO:0005116 | urinary metabolite measurement |
| EFO:0008579 | risk-taking behaviour |
| EFO:0007626 | emphysema imaging measurement |
| EFO:0004874 | memory performance |
| EFO:0004530 | triglyceride measurement |
| EFO:0004614 | apolipoprotein A 1 measurement |
| EFO:0004531 | urate measurement |
| EFO:0009749 | age at first sexual intercourse measurement |
| EFO:0007789 | BMI-adjusted waist circumference |
| EFO:0007788 | BMI-adjusted waist-hip ratio |
| EFO:0008039 | BMI-adjusted hip circumference |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs2010156 | TSHZ2 | 0.00 | 0 |
CTD chemical–gene interactions
38 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases expression, decreases methylation, increases expression | 7 |
| Benzo(a)pyrene | decreases expression, affects methylation | 3 |
| Aflatoxin B1 | decreases expression, increases methylation | 3 |
| entinostat | decreases expression, increases expression, affects cotreatment | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| TAK-243 | increases sumoylation | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| ethyl-p-hydroxybenzoate | decreases expression | 1 |
| trichostatin A | decreases expression | 1 |
| sulforaphane | decreases expression | 1 |
| manganese chloride | increases expression | 1 |
| benzo(e)pyrene | decreases methylation | 1 |
| aflatoxin B2 | affects methylation | 1 |
| coumarin | decreases phosphorylation | 1 |
| beta-methylcholine | affects expression | 1 |
| di-n-butylphosphoric acid | affects 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 |
| Temozolomide | decreases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Panobinostat | affects cotreatment, decreases expression | 1 |
| Arbutin | decreases expression | 1 |
| Dichlorodiphenyl Dichloroethylene | decreases expression | 1 |
| Dexamethasone | decreases expression | 1 |
| Diethylhexyl Phthalate | decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Lead | increases expression | 1 |
| Manganese | increases expression | 1 |
Clinical trials (associated diseases)
1 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT07164248 | Not specified | COMPLETED | Evaluation of Bone Mineral Density Indications and Outcomes in Female Adolescents: Implications for Early Detection of Osteopenia/Osteoporosis and Gynecologic Practice |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): childhood onset asthma, coronary aneurysm, Parkinson disease, primary amenorrhea