TMX4 - thioredoxin related transmembrane protein 4 Gene

Homo sapiens

Also known as PDIA14; TXNDC13; DJ971N18.2

Gene ID: 56255 | Gene type: protein coding

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	Reference	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

Bioactive Molecules (1)

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

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