TMTC4 Gene Summary [Human]

This gene encodes a transmembrane protein that belongs to family of proteins containing an N-terminal transmembrane domain and a C-terminal tetratricopeptide repeat (TPR) domain. TPR domains mediate protein-protein interactions in various cellular processes, such as synaptic vesicle fusion, protein folding, and protein translocation. A pseudogene of this gene has been defined on chromosome 5. [provided by RefSeq, Apr 2017]

Details

Type
Protein Coding
Official Symbol
TMTC4
Official Name
transmembrane O-mannosyltransferase targeting cadherins 4 [Source:HGNC Symbol;Acc:HGNC:25904]
Ensembl ID
ENSG00000125247
Bio databases IDs NCBI: 84899 Ensembl: ENSG00000125247
Aliases transmembrane O-mannosyltransferase targeting cadherins 4
Synonyms 4930403J22Rik, 5730419O14Rik, DFNB122, RGD1560183, transmembrane and tetratricopeptide repeat containing 4, transmembrane O-mannosyltransferase targeting cadherins 4
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human TMTC4 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • ATPase binding
  • TPR repeat
  • Tetratricopeptide repeats
  • type IV pilus biogenesis/stability protein PilW
  • Protein O-mannosyl-transferase TMTC, DUF1736
  • enzyme
  • tetratricopeptide repeat
  • dolichyl-phosphate-mannose-protein mannosyltransferase

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • epithelial neoplasia
  • liver neoplasia
  • epithelial cancer
  • cancer
  • liver cancer
  • digestive system cancer
  • abdominal cancer
  • autosomal recessive deafness type 122
  • psoriasis
  • idiopathic scoliosis
role in cell
  • apoptosis
  • endoplasmic reticulum stress response

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • Endoplasmic Reticulum

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human TMTC4 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • sensory perception of sound
  • endoplasmic reticulum unfolded protein response
  • elevation of endoplasmic reticulum calcium ion concentration
  • protein O-linked mannosylation

Cellular Component

Where in the cell the gene product is active
  • membrane
  • endoplasmic reticulum

Molecular Function

What the gene product does at the molecular level
  • mannosyltransferase activity
  • ATPase binding
  • dolichyl-phosphate-mannose-protein mannosyltransferase activity

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.