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 C-terminal ASP/GLU-rich calcium binding domain. Unlike most members of ... See more...

Aliases for TMX4 Gene

Aliases for TMX4 Gene

  • Thioredoxin Related Transmembrane Protein 4 2 3 5
  • Thioredoxin-Related Transmembrane Protein 4 2 3 4
  • Protein Disulfide Isomerase Family A, Member 14 2 3
  • Thioredoxin Domain-Containing Protein 13 3 4
  • Thioredoxin Domain Containing 13 2 3
  • TXNDC13 3 4
  • DJ971N18.2 3
  • KIAA1162 4
  • PDIA14 3

External Ids for TMX4 Gene

Previous HGNC Symbols for TMX4 Gene

  • TXNDC13

Previous GeneCards Identifiers for TMX4 Gene

  • GC20M007908

Summaries for TMX4 Gene

Entrez Gene Summary for TMX4 Gene

  • 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 C-terminal ASP/GLU-rich calcium binding domain. Unlike most members of this gene family, it lacks a C-terminal ER-retention sequence. The encoded protein has been shown to have reductase activity in vitro. [provided by RefSeq, Jan 2017]

GeneCards Summary for TMX4 Gene

TMX4 (Thioredoxin Related Transmembrane Protein 4) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include protein disulfide isomerase activity. An important paralog of this gene is TMX1.

Gene Wiki entry for TMX4 Gene

Additional gene information for TMX4 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TMX4 Gene

Genomics for TMX4 Gene

GeneHancer (GH) Regulatory Elements for TMX4 Gene

Promoters and enhancers for TMX4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20J008018 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 514.5 +0.2 190 3.3 EP300 FOXK2 ZBTB40 SIN3A NRF1 POLR2G SP1 GTF2E2 PHF8 ZFX TMX4 ENSG00000229766 LOC105372520
GH20J008131 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 16.2 -112.6 -112572 4.4 ZNF217 EP300 NRF1 POLR2G ZFX CTCF ZBTB10 ZBTB26 ZBTB25 TGIF2 lnc-TMX4-4 PLCB1 TMX4 ENSG00000229766 piR-46002-336
GH20J008043 Enhancer 0.8 Ensembl ENCODE 21.6 -24.1 -24072 0.6 ZNF217 CTCF REST ZBTB25 RAD21 TRIM22 TEAD1 CTBP1 SMC3 MBD1 TMX4 ENSG00000229766 PLCB1
GH20J008126 Enhancer 1 Ensembl ENCODE 15.2 -108.0 -108013 4.5 TCF7 TRIM28 MEF2C ZBTB25 TEAD1 ZKSCAN8 CTBP1 BCL11A FOXA2 CEBPB TMX4 ENSG00000229766 lnc-TMX4-4 piR-46002-336 PLCB1
GH20J007980 Enhancer 0.7 Ensembl 19.7 +39.0 39028 0.8 CTCF TEAD1 ZKSCAN8 ZSCAN9 CEBPB SMC3 KAT7 CEBPG RAD21 HDAC1 TMX4 ENSG00000229766 lnc-PLCB1-2 piR-41141-018
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TMX4 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TMX4

Top Transcription factor binding sites by QIAGEN in the TMX4 gene promoter:
  • C/EBPalpha
  • FOXI1
  • HFH-3
  • HNF-1
  • HNF-1A
  • LCR-F1
  • Lhx3a
  • LHX3b
  • Nkx2-2
  • ZID

Genomic Locations for TMX4 Gene

Genomic Locations for TMX4 Gene
chr20:7,977,346-8,019,829
(GRCh38/hg38)
Size:
42,484 bases
Orientation:
Minus strand
chr20:7,957,995-8,000,476
(GRCh37/hg19)
Size:
42,482 bases
Orientation:
Minus strand

Genomic View for TMX4 Gene

Genes around TMX4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMX4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMX4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMX4 Gene

Proteins for TMX4 Gene

  • Protein details for TMX4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H1E5-TMX4_HUMAN
    Recommended name:
    Thioredoxin-related transmembrane protein 4
    Protein Accession:
    Q9H1E5
    Secondary Accessions:
    • Q8N4P7
    • Q8NCC1
    • Q9UJA1
    • Q9ULQ8

    Protein attributes for TMX4 Gene

    Size:
    349 amino acids
    Molecular mass:
    38952 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=CAB56344.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for TMX4 Gene

Post-translational modifications for TMX4 Gene

  • Glycosylation at Asn46
  • Ubiquitination at Lys115
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Other Protein References for TMX4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TMX4 Gene

Domains & Families for TMX4 Gene

Gene Families for TMX4 Gene

Protein Domains for TMX4 Gene

Blocks:
  • Thioredoxin type domain
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TMX4 Gene

GenScript: Design optimal peptide antigens:
  • Thioredoxin domain-containing protein 13 (TMX4_HUMAN)
genes like me logo Genes that share domains with TMX4: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for TMX4 Gene

Function for TMX4 Gene

Phenotypes From GWAS Catalog for TMX4 Gene

genes like me logo Genes that share phenotypes with TMX4: view

Animal Model Products

CRISPR Products

Clone Products

  • Addgene plasmids for TMX4

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TMX4 Gene

Localization for TMX4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMX4 Gene

Nucleus inner membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TMX4 gene
Compartment Confidence
nucleus 4
endoplasmic reticulum 3
extracellular 2
peroxisome 1
cytosol 1
mitochondrion 0
lysosome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TMX4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005634 nucleus IEA --
GO:0005637 nuclear inner membrane ISS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TMX4: view

Pathways & Interactions for TMX4 Gene

PathCards logo

SuperPathways for TMX4 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TMX4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0045454 cell redox homeostasis IEA --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with TMX4: view

No data available for Pathways by source and SIGNOR curated interactions for TMX4 Gene

Drugs & Compounds for TMX4 Gene

No Compound Related Data Available

Transcripts for TMX4 Gene

mRNA/cDNA for TMX4 Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for TMX4

Alternative Splicing Database (ASD) splice patterns (SP) for TMX4 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10
SP1: - -
SP2: -
SP3:
SP4: - -
SP5: - - - -

Relevant External Links for TMX4 Gene

GeneLoc Exon Structure for
TMX4

Expression for TMX4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TMX4 Gene

Protein differential expression in normal tissues from HIPED for TMX4 Gene

This gene is overexpressed in Nasal epithelium (21.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TMX4 Gene



Protein tissue co-expression partners for TMX4 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TMX4

SOURCE GeneReport for Unigene cluster for TMX4 Gene:

Hs.169358

Evidence on tissue expression from TISSUES for TMX4 Gene

  • Nervous system(4.8)
  • Liver(4.4)
  • Lung(2.9)
  • Heart(2)
genes like me logo Genes that share expression patterns with TMX4: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TMX4 Gene

Orthologs for TMX4 Gene

This gene was present in the common ancestor of animals.

Orthologs for TMX4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TMX4 31 30
  • 99.14 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TMX4 31 30
  • 86.67 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TMX4 31 30
  • 86.63 (n)
OneToMany
-- 31
  • 63 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Tmx4 30
  • 84.44 (n)
mouse
(Mus musculus)
Mammalia Tmx4 17 31 30
  • 83.78 (n)
oppossum
(Monodelphis domestica)
Mammalia TMX4 31
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TMX4 31
  • 49 (a)
OneToOne
chicken
(Gallus gallus)
Aves TMX4 31 30
  • 65.2 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TMX4 31
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tmx4 30
  • 64.64 (n)
Str.19537 30
zebrafish
(Danio rerio)
Actinopterygii tmx4 31 30
  • 57.47 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG5554 31
  • 29 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea dpy-11 31
  • 33 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 29 (a)
OneToMany
Species where no ortholog for TMX4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TMX4 Gene

ENSEMBL:
Gene Tree for TMX4 (if available)
TreeFam:
Gene Tree for TMX4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TMX4: view image

Paralogs for TMX4 Gene

(2) SIMAP similar genes for TMX4 Gene using alignment to 3 proteins:

  • TMX4_HUMAN
  • E9PIN7_HUMAN
  • E9PIU6_HUMAN
genes like me logo Genes that share paralogs with TMX4: view

Variants for TMX4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TMX4 Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
rs1135711 - p.Tyr215Cys
rs2076015 - p.Gly303Arg

Additional dbSNP identifiers (rs#s) for TMX4 Gene

Structural Variations from Database of Genomic Variants (DGV) for TMX4 Gene

Variant ID Type Subtype PubMed ID
esv2422203 CNV duplication 17116639
esv3584438 CNV loss 25503493
esv3893279 CNV gain 25118596
nsv1059059 CNV gain 25217958
nsv585384 CNV gain 21841781

Variation tolerance for TMX4 Gene

Residual Variation Intolerance Score: 62.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.89; 35.28% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TMX4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMX4

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMX4 Gene

Disorders for TMX4 Gene

Additional Disease Information for TMX4

No disorders were found for TMX4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TMX4 Gene

Publications for TMX4 Gene

  1. Novel thioredoxin-related transmembrane protein TMX4 has reductase activity. (PMID: 20056998) Sugiura Y … Nagata K (The Journal of biological chemistry 2010) 2 3 54
  2. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 54
  3. Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries. (PMID: 16303743) Otsuki T … Isogai T (DNA research : an international journal for rapid publication of reports on genes and genomes 2005) 3 4 54
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4 54

Products for TMX4 Gene

Sources for TMX4 Gene