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    TXNDC8 thioredoxin domain containing 8 [ Homo sapiens (human) ]

    Gene ID: 255220, updated on 10-Dec-2024

    Summary

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    Official Symbol
    TXNDC8provided by HGNC
    Official Full Name
    thioredoxin domain containing 8provided by HGNC
    Primary source
    HGNC:HGNC:31454
    See related
    Ensembl:ENSG00000204193 MIM:617789; AllianceGenome:HGNC:31454
    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
    TRX6; SPTRX3; SPTRX-3; bA427L11.2
    Summary
    Involved in spermatogenesis. Located in Golgi apparatus. Biomarker of male infertility. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Restricted expression toward testis (RPKM 1.1) See more
    Orthologs
    mouse all
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    Genomic context

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    See TXNDC8 in Genome Data Viewer
    Location:
    9q31.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (110301231..110337863, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (122470769..122507369, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (113065756..113100143, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28784 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20173 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20174 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr9:113019051-113020250 Neighboring gene uncharacterized LOC107987114 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_104724 Neighboring gene uncharacterized LOC124902246 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:113040078-113041277 Neighboring gene thioredoxin Neighboring gene uncharacterized LOC124902245 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_104913 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_104925 Neighboring gene Sharpr-MPRA regulatory region 12709 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_104987 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_105021 Neighboring gene RNA, U6 small nuclear 1039, pseudogene Neighboring gene sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_105134 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_105151 Neighboring gene U6 spliceosomal RNA

    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. Sperm content of TXNDC8 reflects sperm chromatin structure, pregnancy establishment, and incidence of multiple births after ART. Ahlering P, et al. Syst Biol Reprod Med, 2020 Oct. PMID 32851881
    2. Semen levels of spermatid-specific thioredoxin-3 correlate with pregnancy rates in ART couples. Buckman C, et al. PLoS One, 2013. PMID 23734172, Free PMC Article
    3. Spermatocyte/spermatid-specific thioredoxin-3, a novel Golgi apparatus-associated thioredoxin, is a specific marker of aberrant spermatogenesis. Jiménez A, et al. J Biol Chem, 2004 Aug 13. PMID 15181017
    4. DNA sequence and analysis of human chromosome 9. Humphray SJ, et al. Nature, 2004 May 27. PMID 15164053, Free PMC Article
    5. Large-scale proteomics and phosphoproteomics of urinary exosomes. Gonzales PA, et al. J Am Soc Nephrol, 2009 Feb. PMID 19056867, Free PMC Article

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Sperm content of TXNDC8 reflects sperm chromatin structure, pregnancy establishment, and incidence of multiple births after ART.
      Title: Sperm content of TXNDC8 reflects sperm chromatin structure, pregnancy establishment, and incidence of multiple births after ART.
    2. Data indicate that the elevated semen content of SPTRX3/TXNDC8 from assisted reproductive therapy (ART) couples coincided with reduced incidence of pregnancy by in vitro fertilization (IVF) or intracytoplasmic sperm injection (ICSI).
      Title: Semen levels of spermatid-specific thioredoxin-3 correlate with pregnancy rates in ART couples.
    3. SPTRX3 is a novel Golgi apparatus-associated thioredoxin, and has a role in aberrant spermatogenesis
      Title: Spermatocyte/spermatid-specific thioredoxin-3, a novel Golgi apparatus-associated thioredoxin, is a specific marker of aberrant spermatogenesis.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    NOT enables protein-disulfide reductase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in spermatogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in spermatogenesis IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in acrosomal vesicle IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasm 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 8
    Names
    sperm-specific thioredoxin 3
    spermatid-specific thioredoxin-3
    spermatocyte/spermatid-specific thioredoxin-3
    thioredoxin 6
    thioredoxin domain containing 8 (spermatozoa)

    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_001003936.4 → NP_001003936.1  thioredoxin domain-containing protein 8 isoform a

      See identical proteins and their annotated locations for NP_001003936.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AL158158, BC130549
      Consensus CDS
      CCDS35104.1
      UniProtKB/TrEMBL
      A0AAA9YHL0
      Related
      ENSP00000363634.4, ENST00000374510.8
      Conserved Domains (1) summary
      cd02947
      Location:10 → 86
      TRX_family; TRX family; composed of two groups: Group I, which includes proteins that exclusively encode a TRX domain; and Group II, which are composed of fusion proteins of TRX and additional domains. Group I TRX is a small ancient protein that alter the redox ...

    2. NM_001286946.2 → NP_001273875.1  thioredoxin domain-containing protein 8 isoform b

      See identical proteins and their annotated locations for NP_001273875.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a.
      Source sequence(s)
      AL158158, BC144461
      Consensus CDS
      CCDS75872.1
      UniProtKB/TrEMBL
      B7ZME0
      Related
      ENSP00000408768.2, ENST00000423740.7
      Conserved Domains (1) summary
      cd02947
      Location:10 → 66
      TRX_family; TRX family; composed of two groups: Group I, which includes proteins that exclusively encode a TRX domain; and Group II, which are composed of fusion proteins of TRX and additional domains. Group I TRX is a small ancient protein that alter the redox ...

    3. NM_001286947.2 → NP_001273876.1  thioredoxin domain-containing protein 8 isoform c

      See identical proteins and their annotated locations for NP_001273876.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon in the central coding region, and also lacks two 3' exons but includes an alternate 3' terminal exon, and it thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (c) has a distinct C-terminus and is shorter than isoform a.
      Source sequence(s)
      AL158158, BC035743, HY007335
      Consensus CDS
      CCDS69639.1
      UniProtKB/TrEMBL
      A9Z1W9
      Related
      ENSP00000363631.4, ENST00000374507.4
      Conserved Domains (1) summary
      cd02947
      Location:10 → 77
      TRX_family; TRX family; composed of two groups: Group I, which includes proteins that exclusively encode a TRX domain; and Group II, which are composed of fusion proteins of TRX and additional domains. Group I TRX is a small ancient protein that alter the redox ...

    4. NM_001364963.2 → NP_001351892.1  thioredoxin domain-containing protein 8 isoform d

      Status: VALIDATED

      Source sequence(s)
      AL158158, HY007335
      UniProtKB/TrEMBL
      A0AAA9YHJ3, A0AAA9YHL0
      Related
      ENSP00000518867.1, ENST00000713575.1
      Conserved Domains (1) summary
      cd02947
      Location:10 → 100
      TRX_family; TRX family; composed of two groups: Group I, which includes proteins that exclusively encode a TRX domain; and Group II, which are composed of fusion proteins of TRX and additional domains. Group I TRX is a small ancient protein that alter the redox ...

    5. NM_001424031.1 → NP_001410960.1  thioredoxin domain-containing protein 8 isoform e

      Status: VALIDATED

      Source sequence(s)
      AL158158
      UniProtKB/Swiss-Prot
      A1L4I2, A6NDK7, Q5T934, Q6A555
      UniProtKB/TrEMBL
      A0AAA9YHL0
      Related
      ENSP00000363635.3, ENST00000374511.8

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      110301231..110337863 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017014582.2 → XP_016870071.1  thioredoxin domain-containing protein 8 isoform X3

      UniProtKB/TrEMBL
      A0AAA9YHL0

    2. XM_017014583.2 → XP_016870072.1  thioredoxin domain-containing protein 8 isoform X4

      UniProtKB/TrEMBL
      A0AAA9YHL0

    3. XM_017014579.2 → XP_016870068.1  thioredoxin domain-containing protein 8 isoform X1

      UniProtKB/TrEMBL
      A0AAA9YHL0

    4. XM_017014584.2 → XP_016870073.1  thioredoxin domain-containing protein 8 isoform X6

    5. XM_011518463.3 → XP_011516765.1  thioredoxin domain-containing protein 8 isoform X5

      Conserved Domains (1) summary
      cd02947
      Location:10 → 100
      TRX_family; TRX family; composed of two groups: Group I, which includes proteins that exclusively encode a TRX domain; and Group II, which are composed of fusion proteins of TRX and additional domains. Group I TRX is a small ancient protein that alter the redox ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      122470769..122507369 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054362611.1 → XP_054218586.1  thioredoxin domain-containing protein 8 isoform X3

      UniProtKB/TrEMBL
      A0AAA9YHL0

    2. XM_054362612.1 → XP_054218587.1  thioredoxin domain-containing protein 8 isoform X4

      UniProtKB/TrEMBL
      A0AAA9YHL0

    3. XM_054362609.1 → XP_054218584.1  thioredoxin domain-containing protein 8 isoform X1

      UniProtKB/TrEMBL
      A0AAA9YHL0

    4. XM_054362614.1 → XP_054218589.1  thioredoxin domain-containing protein 8 isoform X6

    5. XM_054362613.1 → XP_054218588.1  thioredoxin domain-containing protein 8 isoform X5

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6A555.2 GenPept UniProtKB/Swiss-Prot:Q6A555

    Gene LinkOut

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