TMX4 - thioredoxin related transmembrane protein 4 Gene

Also Known as PDIA14; TXNDC13; DJ971N18.2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 56255

About TMX4

Cytogenetic location: 20p12.3 Genomic coordinates (GRCh38): 20:7,977,346-8,019,761 (from NCBI)

This gene has 4 transcripts (splice variants), 166 orthologues and 13 paralogues. Broad expression in testis (RPKM 50.0), heart (RPKM 24.6) and 24 other tissues.

Summary

This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, a catalytically active thioredoxin domain, one transmembrane domain and C-terminal ASP/GLU-rich calcium binding domain. Unlike most members of this gene family, it lacks a C-terminal ER-retention sequence. The encoded protein has been shown to have reductase activity in vitro. [provided by RefSeq, Jan 2017]

TMX4 Products (1)

mRNA	Protein	Name
NM_021156.4	NP_066979.2	thioredoxin-related transmembrane protein 4 precursor

Gene Ontology

Cellular Component

Cellular Component GO Annotation	Evidence	References	Source
is active in endoplasmic reticulum	IDA IDA: Inferred from direct assay	22045338	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TMX4 Protein Structure

Thioredoxin

0
100
200
300
349 a.a.

Protein Preferred Names	Protein Names
thioredoxin-related transmembrane protein 4	protein disulfide isomerase family A, member 14

Related Diseases

Diseases	Alias
Myasthenic Syndrome, Congenital, 18	Congenital Myasthenic Syndrome 18 CMS18 Myasthenic Syndrome, Congenital, 18, With Intellectual Disability And Ataxia Myasthenic Syndrome, Congenital, 18 With Intellectual Disability And Ataxia Myasthenic Syndrome, Congenital, Type 18
Huntington Disease-Like 1	HDL1 Huntington-Like Neurodegenerative Disorder 1 Hln1 Huntington'S Disease-Like 1 Early-Onset Prion Disease With Prominent Psychiatric Features Huntington-Like Neurodegenerative Disorder, Autosomal Dominant Prion Disease, Early-Onset, With Prominent Psychiatric Features Autosomal Dominant Huntington-Like Neurodegenerative Disorder Huntington Disease-Like, Type 1
Coumarin Resistance	Warfarin Resistance Warfarin Sensitivity Coumadin Sensitivity Warfarin Response Poor Metabolism Of Coumarin Coumarin, Poor Metabolism Of CMRES
Brachydactyly, Type D	Brachydactyly Type D BDD Stub Thumb Brachydactyly D

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14782	TMX4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	TMX4	RGD	RGD:1305146
Macaca mulatta	TMX4	VGNC	VGNC:79484
Bos taurus	TMX4	VGNC	VGNC:57032
Mus musculus	TMX4	MGD	MGI:106558
Canis familiaris	TMX4	VGNC	VGNC:47645
Others	TMX4	NCBI