TMX2 - thioredoxin related transmembrane protein 2 Gene

Homo sapiens

Also known as PIG26; CGI-31; PDIA12; NEDMCMS; TXNDC14

Gene ID: 51075 | Gene type: protein coding

About TMX2

Cytogenetic location: 11q12.1 Genomic coordinates (GRCh38): 11:57,712,593-57,740,973 (from NCBI)

This gene has 9 transcripts (splice variants), 202 orthologues and is associated with 2 phenotypes. Ubiquitous expression in brain (RPKM 42.0), thyroid (RPKM 36.4) and 25 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 a C-terminal ER-retention sequence. This protein is enriched on the mitochondria-associated-membrane of the ER via palmitoylation of two of its cytosolically exposed cysteines. [provided by RefSeq, Jan 2017]

TMX2 Products(10)

mRNA	Protein	Name
NM_001144012.3	NP_001137484.1	thioredoxin-related transmembrane protein 2 isoform 2
NM_001347890.2	NP_001334819.1	thioredoxin-related transmembrane protein 2 isoform 4
NM_001347891.2	NP_001334820.1	thioredoxin-related transmembrane protein 2 isoform 5
NM_001347892.2	NP_001334821.1	thioredoxin-related transmembrane protein 2 isoform 6
NM_001347893.2	NP_001334822.1	thioredoxin-related transmembrane protein 2 isoform 7
NM_001347894.2	NP_001334823.1	thioredoxin-related transmembrane protein 2 isoform 3
NM_001347895.2	NP_001334824.1	thioredoxin-related transmembrane protein 2 isoform 3
NM_001347896.2	NP_001334825.1	thioredoxin-related transmembrane protein 2 isoform 3
NM_001347898.2	NP_001334827.1	thioredoxin-related transmembrane protein 2 isoform 8
NM_015959.4	NP_057043.1	thioredoxin-related transmembrane protein 2 isoform 1 precursor

TMX2 Protein Structure

Thioredoxin

0
100
200
296 a.a.

Protein Preferred Names

Protein Names

thioredoxin-related transmembrane protein 2

cell proliferation-inducing gene 26 protein

Recombinant TMX2 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P71371	TMX2 Protein, Human (His)	Q9Y320 (M125-K296)	≥95%

Related Diseases

Diseases

Alias

Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity

NEDMCMS

Vandervore-Schot Syndrome

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Nervous System Disease

Abnormality Of The Nervous System	Nervous System Diseases
Nervous System Disorder

Polymicrogyria

Pmg

Lissencephaly

Pachygyria	Broad Gyri Of Cerebrum
Large Gyri Of Cerebrum	Macrogyria

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14780	TMX2 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	TMX2	MGD	MGI:1914208
Canis familiaris	TMX2	VGNC	VGNC:52054
Rattus norvegicus	TMX2	RGD	RGD:1359456
Felis catus	TMX2	VGNC	VGNC:81104
Bos taurus	TMX2	VGNC	VGNC:54897
Others	TMX2	NCBI