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

    Gene ID: 57544, updated on 10-Dec-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, Dec 2024]
    Expression
    Ubiquitous expression in prostate (RPKM 12.7), brain (RPKM 6.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TXNDC16 in Genome Data Viewer
    Location:
    14q22.1
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (52430596..52552505, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (46637669..46760351, complement)
    RS_2024_09 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: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    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)

    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 
    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_2024_08

    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

      Related
      ENSP00000520875.1, ENST00000850588.1
      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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