Gene
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.
SNP ID Visualize variation Clinical significance Consequence
rs375454176 C>T Likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
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.
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 IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
609501 11713 ENSG00000182134
Protein
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
QEAVKLIIGRQGANIKQLRKQTGARIDVDTEDVGDERVLLISGFPVQVCKAKAAIHQ
ILT
ENTPVSEQLSVPQRSVGRIIGRGGETIRSICKASGAKITCDKESEGTLLLSRLIKISGTQ
KEVAAAKHLILE
KVSEDEELRKRIAHSAETRVPRKQPISVRREDMTEPGGAGEPALWKNT
SSSMEPTAPLVTPPPKGGGDMAVVVSKEGSWEKPSDDSFQKSEAQAIPEMPMFEIPSPDF
SFHADEYLEVYVSASEHPNHFWIQIVGSRSLQLDKLVNEMTQHYENSVPEDLTVHVGDIV
AAPLPTNGSWYRARVLGTLENGNLDLYFVDFGDNGDCPLKDLRALRSDFLSLPFQAIECS
LAR
IAPSGDQWEEEALDEFDRLTHCADWKPLVAKISSYVQTGISTWPKIYLYDTSNGKKL
DIGLELVHKGYAIELPEDIEENRAVPDMLKDMATETDASLSTLLTETKKSSGEITHTLSC
LSLSEAASMSGDDNLEDDYLL
Sequence length 561
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Coronary artery disease Coronary Artery Disease rs137852988, rs121918313, rs121918529, rs121918531, rs137852340, rs1555800701, rs1215189537 29212778, 28714975
Distal spinal muscular atrophy Distal Spinal Muscular Atrophy rs29001584, rs28941475, rs121434378, rs267607146, rs137852665, rs137852666, rs137852667, rs137852668, rs786205089, rs137852669, rs786205090, rs137852670, rs137852646, rs372000714, rs724159994
View all (44 more)
Non-obstructive azoospermia Non-obstructive azoospermia rs587777872, rs879253743, rs1600840291, rs1600877766, rs753462162, rs1588618614, rs1602684496, rs377712900 22197933
Unknown
Disease term Disease name Evidence References Source
Asthma Asthma 30929738 ClinVar, GWAS
Myocardial Infarction Myocardial Infarction GWAS
Associations from Text Mining
Disease Name Relationship Type References
Azoospermia Associate 35172124
Carcinoma Hepatocellular Associate 32200387, 39778021