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

Gene ID: 255220, updated on 11-Apr-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, Apr 2022]
Expression
Restricted expression toward testis (RPKM 1.1) See more
Orthologs
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Genomic context

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Location:
9q31.3
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (110301231..110337863, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (122470769..122507369, complement)
105.20220307 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)

Genotypes

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/Swiss-Prot
    Q6A555
    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
    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
    Related
    ENSP00000363635.3, ENST00000374511.8

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_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

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

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

  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

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

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

  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

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