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    TDRD12 tudor domain containing 12 [ Homo sapiens (human) ]

    Gene ID: 91646, updated on 2-Nov-2024

    Summary

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    Official Symbol
    TDRD12provided by HGNC
    Official Full Name
    tudor domain containing 12provided by HGNC
    Primary source
    HGNC:HGNC:25044
    See related
    Ensembl:ENSG00000173809 AllianceGenome:HGNC:25044
    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
    ECAT8
    Summary
    Predicted to enable several functions, including ATP binding activity; ATP hydrolysis activity; and RNA helicase activity. Predicted to be involved in several processes, including germ-line stem cell division; male meiotic nuclear division; and regulatory ncRNA-mediated gene silencing. Predicted to be part of PET complex. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in testis (RPKM 4.5), ovary (RPKM 0.8) and 3 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TDRD12 in Genome Data Viewer
    Location:
    19q13.11
    Exon count:
    34
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (32719767..32829580)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (35238502..35348355)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (33210673..33320486)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10486 Neighboring gene uncharacterized LOC124904690 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr19:33190064-33191263 Neighboring gene NUDT19 divergent transcript Neighboring gene nudix hydrolase 19 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14433 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14434 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:33270291-33271101 Neighboring gene Sharpr-MPRA regulatory region 1108 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:33302663-33303164 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:33303165-33303664 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:33307591-33308186 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:33308187-33308780 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:33308781-33309375 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:33312663-33312898 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:33319941-33320462 Neighboring gene GCM1 pseudogene 1 Neighboring gene solute carrier family 7 member 9 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:33358961-33359536 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:33360978-33361500 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:33361501-33362023 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:33366062-33366947 Neighboring gene RN7SK pseudogene 22 Neighboring gene centrosomal protein 89 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:33426525-33427026 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:33427027-33427526 Neighboring gene ribosomal protein L31 pseudogene 60

    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 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. Testicular expression of TDRD1, TDRD5, TDRD9 and TDRD12 in azoospermia. Babakhanzadeh E, et al. BMC Med Genet, 2020 Feb 14. PMID 32059713, Free PMC Article
    2. The homeoprotein Nanog is required for maintenance of pluripotency in mouse epiblast and ES cells. Mitsui K, et al. Cell, 2003 May 30. PMID 12787504
    3. Human chromosome 19 and related regions in mouse: conservative and lineage-specific evolution. Dehal P, et al. Science, 2001 Jul 6. PMID 11441184
    4. New loci associated with kidney function and chronic kidney disease. Köttgen A, et al. Nat Genet, 2010 May. PMID 20383146, Free PMC Article
    5. High-content genome-wide RNAi screens identify regulators of parkin upstream of mitophagy. Hasson SA, et al. Nature, 2013 Dec 12. PMID 24270810, Free PMC Article

    See all (9) 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
    New loci associated with kidney function and chronic kidney disease.
    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ13072

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP hydrolysis activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables RNA helicase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables molecular_function ND
    No biological Data available
    more info
    		  
    enables nucleic acid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in fertilization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in germ-line stem cell division IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in male meiotic nuclear division ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in piRNA processing ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in retrotransposon silencing by piRNA-directed DNA methylation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in spermatogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    part_of PET complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  

    General protein information

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    Preferred Names
    putative ATP-dependent RNA helicase TDRD12
    Names
    ES cell associated transcript 8
    ES cell-associated transcript 8 protein
    tudor domain-containing protein 12
    NP_001104292.1
    NP_001353031.1
    XP_011525773.1
    XP_011525775.1
    XP_011525776.1
    XP_011525777.1
    XP_011525778.1
    XP_016882947.1
    XP_047295626.1
    XP_047295627.1
    XP_047295628.1
    XP_054178562.1
    XP_054178563.1
    XP_054178564.1
    XP_054178565.1
    XP_054178566.1
    XP_054178567.1
    XP_054178568.1
    XP_054178569.1
    XP_054178570.1

    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_001110822.2 → NP_001104292.1  putative ATP-dependent RNA helicase TDRD12 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AB211063, AC008736, BC049000
      Consensus CDS
      CCDS46038.1
      UniProtKB/Swiss-Prot
      Q587J7
      Related
      ENSP00000390621.2, ENST00000421545.2
      Conserved Domains (2) summary
      cd04508
      Location:60 → 109
      TUDOR; Tudor domains are found in many eukaryotic organisms and have been implicated in protein-protein interactions in which methylated protein substrates bind to these domains. For example, the Tudor domain of Survival of Motor Neuron (SMN) binds to ...
      pfam00567
      Location:10 → 128
      TUDOR; Tudor domain

    2. NM_001366102.1 → NP_001353031.1  putative ATP-dependent RNA helicase TDRD12 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC008736, AC008805
      Consensus CDS
      CCDS92580.1
      UniProtKB/Swiss-Prot
      Q587J7
      UniProtKB/TrEMBL
      A0A1W2PRK2
      Related
      ENSP00000492643.2, ENST00000639142.2
      Conserved Domains (3) summary
      COG0513
      Location:422 → 762
      SrmB; Superfamily II DNA and RNA helicase [Replication, recombination and repair]
      pfam00567
      Location:10 → 128
      TUDOR; Tudor domain
      cl00175
      Location:1188 → 1292
      alpha-crystallin-Hsps_p23-like; alpha-crystallin domain (ACD) found in alpha-crystallin-type small heat shock proteins, and a similar domain found in p23 (a cochaperone for Hsp90) and in other p23-like proteins.

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      32719767..32829580
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011527471.4 → XP_011525773.1  putative ATP-dependent RNA helicase TDRD12 isoform X1

      UniProtKB/Swiss-Prot
      Q587J7
      UniProtKB/TrEMBL
      A0A2R8Y872
      Related
      ENSP00000496698.1, ENST00000647536.1
      Conserved Domains (5) summary
      cd04508
      Location:60 → 109
      TUDOR; Tudor domains are found in many eukaryotic organisms and have been implicated in protein-protein interactions in which methylated protein substrates bind to these domains. For example, the Tudor domain of Survival of Motor Neuron (SMN) binds to ...
      COG0513
      Location:422 → 881
      SrmB; Superfamily II DNA and RNA helicase [Replication, recombination and repair]
      pfam00567
      Location:10 → 128
      TUDOR; Tudor domain
      cl00175
      Location:1193 → 1297
      alpha-crystallin-Hsps_p23-like; alpha-crystallin domain (ACD) found in alpha-crystallin-type small heat shock proteins, and a similar domain found in p23 (a cochaperone for Hsp90) and in other p23-like proteins.
      cl21455
      Location:419 → 635
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    2. XM_011527473.4 → XP_011525775.1  putative ATP-dependent RNA helicase TDRD12 isoform X2

      UniProtKB/Swiss-Prot
      Q587J7
      Conserved Domains (5) summary
      cd04508
      Location:60 → 109
      TUDOR; Tudor domains are found in many eukaryotic organisms and have been implicated in protein-protein interactions in which methylated protein substrates bind to these domains. For example, the Tudor domain of Survival of Motor Neuron (SMN) binds to ...
      COG0513
      Location:422 → 881
      SrmB; Superfamily II DNA and RNA helicase [Replication, recombination and repair]
      pfam00567
      Location:10 → 128
      TUDOR; Tudor domain
      cl00175
      Location:1193 → 1297
      alpha-crystallin-Hsps_p23-like; alpha-crystallin domain (ACD) found in alpha-crystallin-type small heat shock proteins, and a similar domain found in p23 (a cochaperone for Hsp90) and in other p23-like proteins.
      cl21455
      Location:419 → 635
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    3. XM_011527475.3 → XP_011525777.1  putative ATP-dependent RNA helicase TDRD12 isoform X7

      UniProtKB/Swiss-Prot
      Q587J7
      Conserved Domains (5) summary
      cd06463
      Location:1197 → 1276
      p23_like; Proteins containing this p23_like domain include p23 and its Saccharomyces cerevisiae (Sc) homolog Sba1. Both are co-chaperones for the heat shock protein (Hsp) 90. p23 binds Hsp90 and participates in the folding of a number of Hsp90 clients, including ...
      cd04508
      Location:60 → 109
      TUDOR; Tudor domains are found in many eukaryotic organisms and have been implicated in protein-protein interactions in which methylated protein substrates bind to these domains. For example, the Tudor domain of Survival of Motor Neuron (SMN) binds to ...
      COG0513
      Location:422 → 881
      SrmB; Superfamily II DNA and RNA helicase [Replication, recombination and repair]
      pfam00567
      Location:10 → 128
      TUDOR; Tudor domain
      cl21455
      Location:419 → 635
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    4. XM_047439670.1 → XP_047295626.1  putative ATP-dependent RNA helicase TDRD12 isoform X3

    5. XM_011527474.4 → XP_011525776.1  putative ATP-dependent RNA helicase TDRD12 isoform X4

      UniProtKB/Swiss-Prot
      Q587J7
      Conserved Domains (4) summary
      COG0513
      Location:382 → 841
      SrmB; Superfamily II DNA and RNA helicase [Replication, recombination and repair]
      pfam00567
      Location:10 → 107
      TUDOR; Tudor domain
      cl00175
      Location:1153 → 1257
      alpha-crystallin-Hsps_p23-like; alpha-crystallin domain (ACD) found in alpha-crystallin-type small heat shock proteins, and a similar domain found in p23 (a cochaperone for Hsp90) and in other p23-like proteins.
      cl21455
      Location:379 → 595
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    6. XM_047439671.1 → XP_047295627.1  putative ATP-dependent RNA helicase TDRD12 isoform X5

    7. XM_047439672.1 → XP_047295628.1  putative ATP-dependent RNA helicase TDRD12 isoform X6

    8. XM_017027458.2 → XP_016882947.1  putative ATP-dependent RNA helicase TDRD12 isoform X8

      UniProtKB/Swiss-Prot
      Q587J7
      Conserved Domains (5) summary
      cd06463
      Location:1197 → 1276
      p23_like; Proteins containing this p23_like domain include p23 and its Saccharomyces cerevisiae (Sc) homolog Sba1. Both are co-chaperones for the heat shock protein (Hsp) 90. p23 binds Hsp90 and participates in the folding of a number of Hsp90 clients, including ...
      cd04508
      Location:60 → 109
      TUDOR; Tudor domains are found in many eukaryotic organisms and have been implicated in protein-protein interactions in which methylated protein substrates bind to these domains. For example, the Tudor domain of Survival of Motor Neuron (SMN) binds to ...
      COG0513
      Location:422 → 881
      SrmB; Superfamily II DNA and RNA helicase [Replication, recombination and repair]
      pfam00567
      Location:10 → 128
      TUDOR; Tudor domain
      cl21455
      Location:419 → 635
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    9. XM_011527476.3 → XP_011525778.1  putative ATP-dependent RNA helicase TDRD12 isoform X9

      UniProtKB/Swiss-Prot
      Q587J7
      Related
      ENSP00000416248.2, ENST00000444215.6
      Conserved Domains (4) summary
      cd04508
      Location:60 → 109
      TUDOR; Tudor domains are found in many eukaryotic organisms and have been implicated in protein-protein interactions in which methylated protein substrates bind to these domains. For example, the Tudor domain of Survival of Motor Neuron (SMN) binds to ...
      COG0513
      Location:422 → 881
      SrmB; Superfamily II DNA and RNA helicase [Replication, recombination and repair]
      pfam00567
      Location:10 → 128
      TUDOR; Tudor domain
      cl21455
      Location:419 → 635
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      35238502..35348355
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054322592.1 → XP_054178567.1  putative ATP-dependent RNA helicase TDRD12 isoform X6

    2. XM_054322588.1 → XP_054178563.1  putative ATP-dependent RNA helicase TDRD12 isoform X2

    3. XM_054322589.1 → XP_054178564.1  putative ATP-dependent RNA helicase TDRD12 isoform X3

    4. XM_054322587.1 → XP_054178562.1  putative ATP-dependent RNA helicase TDRD12 isoform X1

      UniProtKB/TrEMBL
      A0A2R8Y872

    5. XM_054322593.1 → XP_054178568.1  putative ATP-dependent RNA helicase TDRD12 isoform X7

    6. XM_054322590.1 → XP_054178565.1  putative ATP-dependent RNA helicase TDRD12 isoform X4

    7. XM_054322591.1 → XP_054178566.1  putative ATP-dependent RNA helicase TDRD12 isoform X5

    8. XM_054322594.1 → XP_054178569.1  putative ATP-dependent RNA helicase TDRD12 isoform X8

    9. XM_054322595.1 → XP_054178570.1  putative ATP-dependent RNA helicase TDRD12 isoform X9

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001015890.1: Suppressed sequence

      Description
      NM_001015890.1: This RefSeq was temporarily suppressed because currently there is not sufficient data to support this transcript.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q587J7.2 GenPept UniProtKB/Swiss-Prot:Q587J7

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