Gene Gene information from NCBI Gene database.
Entrez ID 56255
Gene name Thioredoxin related transmembrane protein 4
Gene symbol TMX4
Synonyms (NCBI Gene)
DJ971N18.2PDIA14TXNDC13
Chromosome 20
Chromosome location 20p12.3
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 ac
miRNA miRNA information provided by mirtarbase database.
292
miRTarBase ID miRNA Experiments Reference
MIRT029647 hsa-miR-26b-5p Microarray 19088304
MIRT030889 hsa-miR-21-5p Microarray 18591254
MIRT050532 hsa-miR-20a-5p CLASH 23622248
MIRT048092 hsa-miR-197-3p CLASH 23622248
MIRT042945 hsa-miR-324-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
9
GO ID Ontology Definition Evidence Reference
GO:0005634 Component Nucleus IEA
GO:0005637 Component Nuclear inner membrane IEA
GO:0005637 Component Nuclear inner membrane ISS
GO:0005783 Component Endoplasmic reticulum IDA 22045338
GO:0005783 Component Endoplasmic reticulum IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616766 25237 ENSG00000125827
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H1E5
Protein name Thioredoxin-related transmembrane protein 4 (Thioredoxin domain-containing protein 13)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00085 Thioredoxin 38 137 Thioredoxin Domain
Sequence
MAGGRCGPQLTALLAAWIAAVAATAGPEEAALPPEQSRVQPMTASNWTLVMEGEWMLKFY
APWCPSCQQTDSEWEAFAKNGEILQISVGKVDVIQEPGLSGRFFVTTLPAFFHAKDGIFR
RYRGPGIFEDLQNYILE
KKWQSVEPLTGWKSPASLTMSGMAGLFSISGKIWHLHNYFTVT
LGIPAWCSYVFFVIATLVFGLFMGLVLVVISECFYVPLPRHLSERSEQNRRSEEAHRAEQ
LQDAEEEKDDSNEEENKDSLVDDEEEKEDLGDEDEAEEEEEEDNLAAGVDEERSEANDQG
PPGEDGVTREEVEPEEAEEGISEQPCPADTEVVEDSLRQRKSQHADKGL
Sequence length 349
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
OBSESSIVE-COMPULSIVE DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations