TDRKH (tudor and KH domain containing)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
11022
Gene name Gene Name - the full gene name approved by the HGNC.
Tudor and KH domain containing
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TDRKH
Synonyms (NCBI Gene) Gene synonyms aliases
TDRD2
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q21.3
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs375454176 C>T Likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(813)
miRTarBase ID miRNA Experiments Reference
MIRT038037 hsa-miR-423-5p CLASH 23622248
MIRT037409 hsa-miR-744-5p CLASH 23622248
MIRT456271 hsa-miR-6873-5p HITS-CLIP 21572407
MIRT456269 hsa-miR-4293 HITS-CLIP 21572407
MIRT456270 hsa-miR-1199-5p HITS-CLIP 21572407
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(26)
GO ID Ontology Definition Evidence Reference
GO:0003676 Function Nucleic acid binding IEA
GO:0003723 Function RNA binding IEA
GO:0005515 Function Protein binding IPI 32296183, 33961781
GO:0005737 Component Cytoplasm IEA
GO:0005739 Component Mitochondrion HTP 34800366
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
609501 11713 ENSG00000182134
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q9Y2W6
Protein name Tudor and KH domain-containing protein (Tudor domain-containing protein 2)
Protein function Participates in the primary piRNA biogenesis pathway and is required during spermatogenesis to repress transposable elements and prevent their mobilization, which is essential for the germline integrity. The piRNA metabolic process mediates the
PDB 2DIQ , 3FDR , 5J39 , 6B57 , 6PI7
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00013 KH_1 54 → 117 KH domain Domain
PF00013 KH_1 126 → 192 KH domain Domain
PF00567 TUDOR 302 → 423 Tudor domain Domain
Sequence 
MSTERTSWTSLSTIQKIALGLGIPASATVAYILYRRYRESREERLTFVGEDDIEIEMRVP
QEAVKLIIGRQGANIKQLRKQTGARIDVDTEDVGDERVLLISGFPVQVCKAKAAIHQILT
ENTPVSEQLSVPQRSVGRIIGRGGETIRSICKASGAKITCDKESEGTLLLSRLIKISGTQ
KEVAAAKHLILEKVSEDEELRKRIAHSAETRVPRKQPISVRREDMTEPGGAGEPALWKNT
SSSMEPTAPLVTPPPKGGGDMAVVVSKEGSWEKPSDDSFQKSEAQAIPEMPMFEIPSPDF
SFHADEYLEVYVSASEHPNHFWIQIVGSRSLQLDKLVNEMTQHYENSVPEDLTVHVGDIV
AAPLPTNGSWYRARVLGTLENGNLDLYFVDFGDNGDCPLKDLRALRSDFLSLPFQAIECS
LARIAPSGDQWEEEALDEFDRLTHCADWKPLVAKISSYVQTGISTWPKIYLYDTSNGKKL
DIGLELVHKGYAIELPEDIEENRAVPDMLKDMATETDASLSTLLTETKKSSGEITHTLSC
LSLSEAASMSGDDNLEDDYLL
Sequence length 561
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (4)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Asthma Asthma (childhood onset), Atopic asthma, Asthma N/A N/A GWAS
Coronary artery disease Coronary artery disease N/A N/A GWAS
Distal Spinal Muscular Atrophy distal spinal muscular atrophy N/A N/A ClinVar
Myocardial Infarction Myocardial infarction N/A N/A GWAS
Show/Hide Text Mining Associations (2)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Azoospermia Associate 35172124
Carcinoma Hepatocellular Associate 32200387, 39778021