TMX3 - thioredoxin related transmembrane protein 3 Gene

Homo sapiens

Also known as PDIA13; TXNDC10

Gene ID: 54495 | Gene type: protein coding

About TMX3

Cytogenetic location: 18q22.1 Genomic coordinates (GRCh38): 18:68,673,688-68,715,108 (from NCBI)

This gene has 14 transcripts (splice variants), 275 orthologues and 13 paralogues. Ubiquitous expression in appendix (RPKM 11.6), lymph node (RPKM 10.9) 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 canonical protein encoded by this gene has an N-terminal ER-signal sequence, a catalytically active thioredoxin domain, one transmembrane domain and a C-terminal ER-retention sequence. This gene is expressed in many tissues but has its highest expression in heart and skeletal muscle. It is expressed in the retinal neuroepithelium and lens epithelium in the developing murine eye and haploinsufficiency of this gene in humans and zebrafish is associated with microphthalmia. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2017]

TMX3 Products(7)

mRNA	Protein	Name
NM_001350512.2	NP_001337441.1	protein disulfide-isomerase TMX3 isoform 2 precursor
NM_001350513.2	NP_001337442.1	protein disulfide-isomerase TMX3 isoform 3 precursor
NM_001350514.2	NP_001337443.1	protein disulfide-isomerase TMX3 isoform 4 precursor
NM_001350515.2	NP_001337444.1	protein disulfide-isomerase TMX3 isoform 5
NM_001350516.2	NP_001337445.1	protein disulfide-isomerase TMX3 isoform 5
NM_001350517.2	NP_001337446.1	protein disulfide-isomerase TMX3 isoform 5
NM_019022.5	NP_061895.3	protein disulfide-isomerase TMX3 isoform 1 precursor

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA
enables protein-disulfide reductase activity	IDA IDA: Inferred from direct assay	15623505	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cell surface	IDA IDA: Inferred from direct assay	19995400	GOA
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	15623505	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

TMX3 Protein Structure

Thioredoxin

Thioredoxin_6

0
100
200
300
400
454 a.a.

Protein Preferred Names

Protein Names

protein disulfide-isomerase TMX3

protein disulfide isomerase family A, member 13

Related Diseases

Diseases

Alias

Microphthalmia

Microphthalmos	Isolated Anophthalmia-Microphthalmia Syndrome
Isolated Microphthalmia-Anophthalmia-Coloboma	Simple Microphthalmos
Clinical Anophthalmia	Isolated Anophthalmia - Microphthalmia
Isolated Pure Microphthalmia	Mac Spectrum
Microphthalmia-Anophthalmia-Coloboma Spectrum	Primitive Anophthalmia
Globe Of Eye Small	Small Eyeball
Hypoplasia Of Eye	Isolated Nanophthalmos
Rudimentary Eye	Dysplasia Of Eye

Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1

Xylosylprotein 4-Beta-Galactosyltransferase Deficiency	Xgpt Deficiency
EDSSPD1	Ehlers-Danlos Syndrome With Short Stature And Limb Anomalies
Edssla	Proteodermatan Sulfate, Defective Biosynthesis Of
Pds, Defective Biosynthesis Of	Dermatan Sulfate Proteoglycan
Galactosyltransferase I Deficiency	Ehlers-Danlos Syndrome Spondylodysplastic Type 1
Spondylodysplastic Ehlers-Danlos Syndrome	Ehlers-Danlos Syndrome, Progeroid Type, 1, Formerly
Edsp1, Formerly	Ehlers-Danlos Syndrome, Progeroid Type
Galactosyltransferase 1 Deficiency	Spondylodysplastic Eds
Speds	Defective Biosynthesis Of Pds
Defective Biosynthesis Of Proteodermatan Sulfate	Edsp1
Ehlers-Danlos Syndrome, Progeroid Type, 1	Proteodermatan Sulfate Defective Biosynthesis Of
Ehlers-Danlos, Spondylodysplastic Syndrome	Ehlers-Danlos Syndrome, Progeroid Form

Diaphragmatic Hernia, Congenital

Congenital Diaphragmatic Hernia	Diaphragmatic Hernia
Cdh	Congenital Diaphragmatic Defect
Hernia, Diaphragmatic	Dih
Hernia, Congenital Diaphragmatic	Hcd
Diaphragmatic Defect, Congenital	Diaphragm, Unilateral Agenesis Of
Hemidiaphragm, Agenesis Of	Diaphragmatic Hernia 1
Agenesis Of Hemidiaphragm	Unilateral Agenesis Of Diaphragm
Hernia Diaphragmatic	Hernia Diaphragmatic Congenital
Hernia, Diaphragmatic, Type 1	Hiatus Hernia
Oesophageal Hiatus Hernia	Paraoesophageal Hernia
Sliding Hiatus Hernia	Congenital Diaphragm Hernia
Congenital Diaphragm Defect With Hernia	Gross Congenital Diaphragm Defect

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-RS14781	TMX3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	TMX3	MGD	MGI:2442418
Macaca mulatta	TMX3	VGNC	VGNC:79451
Rattus norvegicus	TMX3	RGD	RGD:1592777
Bos taurus	TMX3	VGNC	VGNC:36151
Felis catus	TMX3	VGNC	VGNC:66395
Canis familiaris	TMX3	VGNC	VGNC:47644

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