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

Gene ID: 91646, updated on 3-Apr-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 ATP binding activity; RNA helicase activity; and nucleic acid binding activity. Predicted to be involved in several processes, including gamete generation; gene silencing by RNA; and piRNA metabolic process. Predicted to be part of PET complex. [provided by Alliance of Genome Resources, Apr 2022]
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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Location:
19q13.11
Exon count:
34
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (32719767..32829580)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (35238502..35348355)
105.20220307 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
  • 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 siRNA-mediated retrotransposon silencing by heterochromatin formation 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_2023_10

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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