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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 nameGene Name - the full gene name approved by the HGNC.
Tudor and KH domain containing
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
TDRKH
SynonymsGene synonyms aliases
TDRD2
ChromosomeChromosome number
1
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q21.3
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
SNP ID Visualize variation Clinical significance Consequence
rs375454176 C>T Likely-pathogenic Coding sequence variant, missense variant
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
miRTarBase ID miRNA Experiments Reference
MIRT037409 hsa-miR-744-5p CLASH 23622248
MIRT038037 hsa-miR-423-5p CLASH 23622248
MIRT456256 hsa-miR-887-3p PAR-CLIP 23592263
MIRT456256 hsa-miR-887-3p PAR-CLIP 27292025
MIRT456257 hsa-miR-4451 PAR-CLIP 23592263
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
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding IEA
GO:0005515 Function Protein binding IPI 32296183
GO:0005739 Component Mitochondrion ISS
GO:0007140 Process Male meiotic nuclear division ISS
GO:0007283 Process Spermatogenesis ISS
Other IDsOther 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
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 repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and govern the methylation and subsequent repression of transposons. Required for the final steps of primary piRNA biogenesis by participating in the processing of 31-37 nt intermediates into mature piRNAs. May act in pi-bodies and piP-bodies by transferring piRNA precursors or intermediates to or between these granules.
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
Associated diseases
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Causal
Disease name Disease term dbSNP ID References
Asthma Asthma rs324981, rs121912630, rs150116809, rs4950928, rs708494, rs1581842283 30929738
Distal spinal muscular atrophy Distal Spinal Muscular Atrophy rs29001584, rs28941475, rs121434378, rs267607146, rs137852665, rs137852666, rs137852667, rs137852668, rs786205089, rs137852669, rs786205090, rs137852670, rs-1, rs137852646, rs372000714, rs724159994, rs730882139, rs730882140, rs796065352, rs886037759, rs746581714, rs780594709, rs756614404, rs864309503, rs200089714, rs145226920, rs35193202, rs879253865, rs201060167, rs879253887, rs368775789, rs886043773, rs1057518588, rs1060502838, rs768823392, rs1131691657, rs1554338260, rs1555243325, rs991227431, rs557416644, rs1160978570, rs1000091588, rs770111639, rs1566443170, rs759641927, rs372181708, rs1564096221, rs1332319177, rs1479493690, rs972425138, rs779716706, rs776730737, rs1303837541, rs1337346956, rs750994603, rs199839840, rs1366461184, rs1454639285, rs1594427410, rs145670786
Coronary artery disease Coronary Artery Disease rs137852988, rs121918313, rs-1, rs121918529, rs121918531, rs137852340, rs405509, rs1555800701, rs1215189537 29212778, 28714975
Non-obstructive azoospermia Non-obstructive azoospermia rs587777872, rs879253743, rs1600840291, rs1600877766, rs753462162, rs1588618614, rs1602684496, rs377712900 22197933

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