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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 (Thioredoxin Related Transmembrane Protein 3) is a Protein Coding gene. Diseases associated with TMX3 include Microphthalmia and Trichinosis. Among its related pathways are Response to elevated platelet cytosolic Ca2+. Gene Ontology (GO) annotations related to this gene include calcium ion binding and protein disulfide isomerase activity. An important paralog of this gene is PDIA4.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003756 | protein disulfide isomerase activity | IEA | -- |
GO:0005515 | protein binding | IPI | 25416956 |
GO:0016853 | isomerase activity | IEA | -- |
GO:0016972 | thiol oxidase activity | IBA,IDA | 15623505 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005783 | endoplasmic reticulum | IEA | -- |
GO:0005789 | endoplasmic reticulum membrane | IDA | 15623505 |
GO:0005886 | plasma membrane | TAS | -- |
GO:0009986 | cell surface | IDA | 19995400 |
GO:0016020 | membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Response to elevated platelet cytosolic Ca2+ |
.44
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002576 | platelet degranulation | TAS | -- |
GO:0018171 | peptidyl-cysteine oxidation | IBA,IDA | 15623505 |
GO:0018215 | protein phosphopantetheinylation | IEA | -- |
GO:0045454 | cell redox homeostasis | IEA | -- |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | ^ | 11a | · | 11b | ^ | 12a | · | 12b | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP7: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TMX3 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | TMX3 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Tmx3 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Tmx3 30 |
|
||
Cow (Bos Taurus) |
Mammalia | TMX3 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | TMX3 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | TMX3 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | TMX3 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | TMX3 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | tmx3 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | zgc:152808 30 |
|
||
tmx3 31 |
|
OneToOne | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG5027 30 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP005431 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | ZK973.11 30 31 |
|
OneToOne | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | PDI1 31 |
|
ManyToMany | |
EUG1 31 |
|
ManyToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.10269 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 18 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs552445199 | Uncertain Significance: not provided | 68,711,389(-) |
C/T NM_019022.5(TMX3):c.116G>A (p.Arg39Gln) |
MISSENSE_VARIANT,FIVE_PRIME_UTR | |
rs11557684 | - |
p.Pro61Ser |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv3390n100 | CNV | gain | 25217958 |
esv2758736 | CNV | gain+loss | 17122850 |
esv3642946 | CNV | loss | 21293372 |
esv3893127 | CNV | gain | 25118596 |
nsv1058755 | CNV | gain | 25217958 |
nsv458117 | CNV | gain | 19166990 |
nsv577329 | CNV | gain | 21841781 |
nsv577369 | CNV | gain | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
microphthalmia |
|
|
trichinosis |
|
|
vertical talus, congenital |
|
|
diaphragmatic hernia, congenital |
|
|
attention deficit-hyperactivity disorder |
|
|