TMX3 - thioredoxin related transmembrane protein 3 Gene

Also Known as PDIA13; TXNDC10

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 54495

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 References 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 References 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: Thioredoxin (32 - 127)

Thioredoxin_6

Thioredoxin_6: Thioredoxin-like domain (160 - 338)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 454 a.a.
Protein Preferred Names Protein Names

protein disulfide-isomerase TMX3

  • protein disulfide isomerase family A, member 13

TMX3 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
TMX3 Q96JJ7 FHL3 Homo sapiens Q13643
Validated Y2H
25416956
Intra
TMX3 Q96JJ7 FHL3 Homo sapiens Q13643
Y2H Prey Pooling
25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

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

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS14781 TMX3 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS22347 Tmx3 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS28869 Tmx3 Rat Pre-designed siRNA Set A Pre-designed Set / 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
Others TMX3 NCBI