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TXNDC16 thioredoxin domain containing 16 [ Homo sapiens (human) ]

Gene ID: 57544, updated on 5-Mar-2024

Summary

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Official Symbol
TXNDC16provided by HGNC
Official Full Name
thioredoxin domain containing 16provided by HGNC
Primary source
HGNC:HGNC:19965
See related
Ensembl:ENSG00000087301 MIM:616179; AllianceGenome:HGNC:19965
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
ERp90; KIAA1344
Summary
Located in endoplasmic reticulum lumen. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in prostate (RPKM 12.7), brain (RPKM 6.3) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
14q22.1
Exon count:
24
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (52430596..52552505, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (46637669..46760351, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (52897314..53019223, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene pumilio domain-containing protein KIAA0020-like Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:52780260-52780820 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:52780821-52781380 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8386 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8387 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8388 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8389 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8390 Neighboring gene prostaglandin E receptor 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5744 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5745 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:53034445-53035160 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:53035161-53035876 Neighboring gene G protein-coupled receptor 137C Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:53062685-53063186 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr14:53130319-53130927 Neighboring gene endoplasmic reticulum oxidoreductase 1 alpha Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:53161801-53162302

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Secretion and immunogenicity of the meningioma-associated antigen TXNDC16. Harz C, et al. J Immunol, 2014 Sep 15. PMID 25122923
  2. Identification of the PDI-family member ERp90 as an interaction partner of ERFAD. Riemer J, et al. PLoS One, 2011 Feb 16. PMID 21359175, Free PMC Article
  3. Genome wide study of maternal and parent-of-origin effects on the etiology of orofacial clefts. Shi M, et al. Am J Med Genet A, 2012 Apr. PMID 22419666, Free PMC Article
  4. Genome-wide association study of primary dentition pit-and-fissure and smooth surface caries. Zeng Z, et al. Caries Res, 2014. PMID 24556642, Free PMC Article
  5. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. Nagase T, et al. DNA Res, 2000 Feb 28. PMID 10718198

See all (26) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome wide study of maternal and parent-of-origin effects on the etiology of orofacial clefts.
EBI GWAS Catalog
Genome-wide association study of primary dentition pit-and-fissure and smooth surface caries.
EBI GWAS Catalog
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA1344

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
  
Component Evidence Code Pubs
located_in endoplasmic reticulum lumen IDA
Inferred from Direct Assay
more info
 PubMed 
located_in extracellular exosome HDA PubMed 

General protein information

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Preferred Names
thioredoxin domain-containing protein 16

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.

mRNA and Protein(s)

  1. NM_001160047.2 → NP_001153519.1  thioredoxin domain-containing protein 16 isoform 2 precursor

    See identical proteins and their annotated locations for NP_001153519.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region compared to variant 1. This results in a shorter protein (isoform 2) compared to isoform 1.
    Source sequence(s)
    BC142650, BC144469, DB083799
    UniProtKB/TrEMBL
    B7ZME4
    Conserved Domains (2) summary
    cd02961
    Location:389 → 487
    PDI_a_family; Protein Disulfide Isomerase (PDIa) family, redox active TRX domains; composed of eukaryotic proteins involved in oxidative protein folding in the endoplasmic reticulum (ER) by acting as catalysts and folding assistants. Members of this family include PDI ...
    pfam13848
    Location:528 → 717
    Thioredoxin_6; Thioredoxin-like domain

  2. NM_020784.3 → NP_065835.2  thioredoxin domain-containing protein 16 isoform 1 precursor

    See identical proteins and their annotated locations for NP_065835.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    BC142650
    Consensus CDS
    CCDS32083.1
    UniProtKB/Swiss-Prot
    A5PKW9, A7E260, A7MD07, B9EH67, Q9H9W7, Q9P2K2
    Related
    ENSP00000281741.4, ENST00000281741.9
    Conserved Domains (2) summary
    cd02961
    Location:394 → 492
    PDI_a_family; Protein Disulfide Isomerase (PDIa) family, redox active TRX domains; composed of eukaryotic proteins involved in oxidative protein folding in the endoplasmic reticulum (ER) by acting as catalysts and folding assistants. Members of this family include PDI ...
    pfam13848
    Location:533 → 722
    Thioredoxin_6; Thioredoxin-like domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    52430596..52552505 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017021505.2 → XP_016876994.1  thioredoxin domain-containing protein 16 isoform X1

    Conserved Domains (1) summary
    cl00388
    Location:394 → 437
    Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold

RNA

  1. XR_007064038.1 RNA Sequence

  2. XR_007064037.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    46637669..46760351 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054376461.1 → XP_054232436.1  thioredoxin domain-containing protein 16 isoform X1

RNA

  1. XR_008488887.1 RNA Sequence

  2. XR_008488886.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9P2K2.4 GenPept UniProtKB/Swiss-Prot:Q9P2K2

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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