TSHZ3

Chr 19q12

teashirt zinc finger homeobox 3

Aliases:: KIAA1474, TSH3
MANE:: ENST00000240587.5

OMIM: 614119 ↗NCBI: 57616 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

TSHZ3 · Q63HK5

v62025-08-01

Predicted Aligned Error matrix for TSHZ3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

54.6/ 100

Low

1,081 residues

Confidence breakdown

Very high(≥ 90)9%
Confident(70–90)19%
Low(50–70)14%
Very low(< 50)58%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
CAKUT
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Unexplained kidney failure in young people
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Unexplained young onset end-stage renal disease - additional genes
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

congenital anomaly of kidney and urinary tract
0.47
type 2 diabetes mellitus
0.42
Hypermetropia
0.39
intelligence
0.38
mathematical ability
0.36
Urinary retention
0.33
benign prostatic hyperplasia
0.33
colonic neoplasm
0.32
myopia
0.31
Abnormality of refraction
0.31

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Teashirt homolog 3

Transcriptional regulator involved in developmental processes. Functions in association with APBB1, SET and HDAC factors as a transcriptional repressor, that inhibits the expression of CASP4. TSHZ3-mediated transcription repression involves the recruitment of histone deacetylases HDAC1 and HDAC2. Associates with chromatin in a region surrounding the CASP4 transcriptional start site(s) (PubMed:19343227). Regulates the development of neurons involved in both respiratory rhythm and airflow control. Promotes maintenance of nucleus ambiguus (nA) motoneurons, which govern upper airway function, and establishes a respiratory rhythm generator (RRG) activity compatible with survival at birth. Involved in the differentiation of the proximal uretic smooth muscle cells during developmental processes. Involved in the up-regulation of myocardin, that directs the expression of smooth muscle cells in the proximal ureter (By similarity). Involved in the modulation of glutamatergic synaptic transmission and long-term synaptic potentiation (By similarity)