TMX2 thioredoxin related transmembrane protein 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TMX2provided by HGNC
Official Full Name: thioredoxin related transmembrane protein 2provided by HGNC
Primary source: HGNC:HGNC:30739
See related: Ensembl:ENSG00000213593 MIM:616715; AllianceGenome:HGNC:30739
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PIG26; CGI-31; PDIA12; NEDMCMS; TXNDC14
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]
Expression: Ubiquitous expression in brain (RPKM 42.0), thyroid (RPKM 36.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q12.1

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (57712593..57740973)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (57662769..57691303)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (57480065..57508445)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TMX family genes and their association with prognosis, immune infiltration, and chemotherapy in human pan-cancer.
Title: TMX family genes and their association with prognosis, immune infiltration, and chemotherapy in human pan-cancer.
Recurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephaly.
Title: Recurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephaly.
Thioredoxin-related transmembrane protein 2 (TMX2) regulates the Ran protein gradient and importin-beta-dependent nuclear cargo transport.
Title: Thioredoxin-related transmembrane protein 2 (TMX2) regulates the Ran protein gradient and importin-β-dependent nuclear cargo transport.
TMX2 Dysfunction Causes Severe Brain Developmental Abnormalities.
Title: TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities.
TMX2 is enriched on the mitochondria-associated membrane. Targeting TMX to the MAM requires palmitoylation of two membrane-proximal cytosolic cysteines.
Title: Palmitoylated TMX and calnexin target to the mitochondria-associated membrane.
molecular cloning and characterization of one member of the thioredoxin superfamily, designated as TMX2; the TMX2 cDNA consists of 1644 nucleotides and contains an open reading frame encoding a protein of 372 amino acids
Title: Cloning and identification of a novel cDNA coding thioredoxin-related transmembrane protein 2.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity MedGen: C5231480 OMIM: 618730 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-110745 (e-PCR)
- UniSTS:168003

D11S4605 (e-PCR)
- UniSTS:14413

SHGC-111424 (e-PCR)
- UniSTS:182355

RH18244 (e-PCR)
- UniSTS:56666

G62115 (e-PCR)
- UniSTS:139158

Readthrough TMX2-CTNND1

Readthrough gene: TMX2-CTNND1, Included gene: CTNND1

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables disulfide oxidoreductase activity	IBA Inferred from Biological aspect of Ancestor more info
enables disulfide oxidoreductase activity	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in brain development	IBA Inferred from Biological aspect of Ancestor more info
involved_in brain development	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in membrane-bounded organelle	IBA Inferred from Biological aspect of Ancestor more info
is_active_in mitochondria-associated endoplasmic reticulum membrane contact site	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondria-associated endoplasmic reticulum membrane contact site	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	IMP Inferred from Mutant Phenotype more info	PubMed

General protein information

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Preferred Names: thioredoxin-related transmembrane protein 2

Names: cell proliferation-inducing gene 26 protein; growth-inhibiting gene 11; protein disulfide isomerase family A, member 12; thioredoxin domain-containing protein 14

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_052993.1 RefSeqGene

Range

5071..33451

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001144012.3 → NP_001137484.1 thioredoxin-related transmembrane protein 2 isoform 2

See identical proteins and their annotated locations for NP_001137484.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon and uses an alternate in-frame splice junction compared to variant 5. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 4.

Source sequence(s)

AL037895, AP001931, BC093062, BI762960

Consensus CDS

CCDS44601.1

UniProtKB/TrEMBL

B2R7I0

Related

ENSP00000367562.4, ENST00000378312.8

Conserved Domains (1) summary

cd02962
Location:83 → 221

TMX2; TMX2 family; composed of proteins similar to human TMX2, a 372-amino acid TRX-related transmembrane protein, identified and characterized through the cloning of its cDNA from a human fetal library. It contains a TRX domain but the redox active CXXC motif ...
NM_001347890.2 → NP_001334819.1 thioredoxin-related transmembrane protein 2 isoform 4

Status: VALIDATED

Description

Transcript Variant: This variant (5) encodes the longest isoform (4).

Source sequence(s)

AP000662, AP001931

UniProtKB/TrEMBL

B2R7I0
NM_001347891.2 → NP_001334820.1 thioredoxin-related transmembrane protein 2 isoform 5

Status: VALIDATED

Source sequence(s)

AP000662, AP001931, BQ920164

UniProtKB/TrEMBL

A0AAQ5BGW3
NM_001347892.2 → NP_001334821.1 thioredoxin-related transmembrane protein 2 isoform 6

Status: VALIDATED

Source sequence(s)

AP000662, AP001931

UniProtKB/TrEMBL

B7Z4Y0
NM_001347893.2 → NP_001334822.1 thioredoxin-related transmembrane protein 2 isoform 7

Status: VALIDATED

Source sequence(s)

AP000662, AP001931

UniProtKB/TrEMBL

B7Z4Y0
NM_001347894.2 → NP_001334823.1 thioredoxin-related transmembrane protein 2 isoform 3

Status: VALIDATED

Description

Transcript Variant: This variant (3), as well as variants 9 and 10, encodes isoform 3.

Source sequence(s)

AP000662, AP001931

UniProtKB/TrEMBL

B7Z4Y0
NM_001347895.2 → NP_001334824.1 thioredoxin-related transmembrane protein 2 isoform 3

Status: VALIDATED

Description

Transcript Variant: This variant (9), as well as variants 3 and 10, encodes isoform 3.

Source sequence(s)

AP000662, AP001931

UniProtKB/TrEMBL

B7Z4Y0
NM_001347896.2 → NP_001334825.1 thioredoxin-related transmembrane protein 2 isoform 3

Status: VALIDATED

Description

Transcript Variant: This variant (10), as well as variants 3 and 9, encodes isoform 3.

Source sequence(s)

AP000662, AP001931

UniProtKB/TrEMBL

B7Z4Y0
NM_001347898.2 → NP_001334827.1 thioredoxin-related transmembrane protein 2 isoform 8

Status: VALIDATED

Source sequence(s)

AP000662, AP001931
NM_015959.4 → NP_057043.1 thioredoxin-related transmembrane protein 2 isoform 1 precursor

See identical proteins and their annotated locations for NP_057043.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) uses an alternate in-frame splice junction compared to variant 5. The resulting isoform (1) has the same N- and C-termini but is shorter compared to isoform 4.

Source sequence(s)

AF132965, AL037895, AP001931, BI762960

Consensus CDS

CCDS7967.1

UniProtKB/Swiss-Prot

B7Z4R4, Q53G73, Q561W0, Q5J7Q7, Q8NBP9, Q9H3L1, Q9Y320

UniProtKB/TrEMBL

B2R7I0

Related

ENSP00000278422.4, ENST00000278422.9

Conserved Domains (1) summary

cd02962
Location:109 → 259

TMX2; TMX2 family; composed of proteins similar to human TMX2, a 372-amino acid TRX-related transmembrane protein, identified and characterized through the cloning of its cDNA from a human fetal library. It contains a TRX domain but the redox active CXXC motif ...

RNA

NR_037645.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (4) lacks two alternate exons and uses an alternate splice junction compared to variant 5. This variant is represented as non-coding because the use of the supported translational start codon, as used in variant 5, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AL037895, AP001931, BI762960, BQ686696

Related

ENST00000713775.1
NR_144933.2 RNA Sequence

Status: VALIDATED

Source sequence(s)

AP000662, AP001931

Related

ENST00000713777.1
NR_144934.2 RNA Sequence

Status: VALIDATED

Source sequence(s)

AP000662, AP001931

Related

ENST00000529403.1
NR_144935.2 RNA Sequence

Status: VALIDATED

Source sequence(s)

AP000662, AP001931

Related

ENST00000525035.6