Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
122402
Gene name Gene Name - the full gene name approved by the HGNC.
Tudor domain containing 9
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TDRD9
Synonyms (NCBI Gene) Gene synonyms aliases
C14orf75, HIG-1, HLS, NET54, SPGF30, SPNE
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q32.33
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs765353898 TAGT>- Pathogenic Genic upstream transcript variant, 5 prime UTR variant, frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT1417159 hsa-miR-1287 CLIP-seq
MIRT1417160 hsa-miR-1912 CLIP-seq
MIRT1417161 hsa-miR-194 CLIP-seq
MIRT1417162 hsa-miR-3125 CLIP-seq
MIRT1417163 hsa-miR-3135b CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0003676 Function Nucleic acid binding IEA
GO:0003723 Function RNA binding IBA
GO:0003724 Function RNA helicase activity IEA
GO:0004386 Function Helicase activity IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
617963 20122 ENSG00000156414
Protein
UniProt ID Q8NDG6
Protein name ATP-dependent RNA helicase TDRD9 (EC 3.6.4.13) (Tudor domain-containing protein 9)
Protein function ATP-binding RNA helicase required during spermatogenesis (PubMed:28536242). Required to repress transposable elements and prevent their mobilization, which is essential for the germline integrity. Acts via the piRNA metabolic process, which medi
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00270 DEAD 135 298 DEAD/DEAH box helicase Domain
PF00271 Helicase_C 376 501 Helicase conserved C-terminal domain Family
PF04408 HA2 565 702 Helicase associated domain (HA2) Domain
PF00567 TUDOR 899 1015 Tudor domain Domain
Sequence
MLRKLTIEQINDWFTIGKTVTNVELLGAPPAFPAGAAREEVQRQDVAPGAGPAAQAPALA
QAPARPAAAFERSLSQRSSEVEYINKYRQLEAQELDVCRSVQPTSGPGPRPSLAKLSSVT
CIPGTTYKYPDLPISRYKEEVVSLIESNSVVIIHGATGSGKSTQLPQYILDHYVQRSAYC
SIVVTQPRKIGASSIARWISKERAWTLGGVVGYQVGLEKIATEDTRLIYMTTGVLLQKIV
SAKSLMEFTHIIIDEVHERTEEMDFLLLVVRKLLRTNSRFVKVVLMSATISCKEFADY
FA
VPVQNKMNPAYIFEVEGKPHSVEEYYLNDLEHIHHSKLSPHLLEEPVITKDIYEVAVSLI
QMFDDLDMKESGNKAWSGAQFVLERSSVLVFLPGLGEINYMHELLTSLVHKRLQVYPLHS
SVALEEQNNVFLSPVPGYRKIILSTNIAESSVTVPDVKYVIDFCLTRTLVCDEDTNYQSL
RLSWASKTSCNQRKGRAGRVS
RGYCYRLVHKDFWDNSIPDHVVPEMLRCPLGSTILKVKL
LDMGEPRALLATALSPPGLSDIERTILLLKEVGALAVSGQREDENPHDGELTFLGRVLAQ
LPVNQQLGKLIVLGHVFGCLDECLIIAAALSLKNFFAMPFRQHLDGYRNKVNFSGSSKSD
CIALVEAFKTWKACRQTGELRYPKDELNWGRLNYIQIKRIRE
VAELYEELKTRISQFNMH
VDSRRPVMDQEYIYKQRFILQVVLAGAFYPNYFTFGQPDEEMAVRELAGKDPKTTVVLKH
IPPYGFLYYKQLQSLFRQCGQVKSIVFDGAKAFVEFSRNPTERFKTLPAVYMAIKMSQLK
VSLELSVHSAEEIEGKVQGMNVSKLRNTRVNVDFQKQTVDPMQVSFNTSDRSQTVTDLLL
TIDVTEVVEVGHFWGYRIDENNSEILKKLTAEINQLTLVPLPTHPHPDLVCLAPFADFDK
QRYFRAQVLYVSGNSAEVFFVDYGNKSHVDLHLLMEIPCQFLELPFQALEFKICK
MRPSA
KSLVCGKHWSDGASQWFASLVSGCTLLVKVFSVVHSVLHVDVYQYSGVQDAINIRDVLIQ
QGYAELTEESYESKQSHEVLKGLFSKSVENMTDGSVPFPMKDDEKYLIRILLESFSTNKL
GTPNCKAELHGPFNPYELKCHSLTRISKFRCVWIEKESINSVIISDAPEDLHQRMLVAAS
LSINATGSTMLLRETSLMPHIPGLPALLSMLFAPVIELRIDQNGKYYTGVLCGLGWNPAT
GASILPEHDMELAFDVQFSVEDVVEVNILRAAINKLVCDGPNGCKCLGPERVAQLQDIAR
QKLLGLFCQSKPREKIVPKWHEKPYEWNQVDPKLVMEQADRESSRGKNTFLYQLHKLVVL
GT
Sequence length 1382
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)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Spermatogenic Failure Spermatogenic failure 30 rs765353898 N/A
Azoospermia azoospermia rs765353898 N/A
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
Bipolar Disorder Bipolar disorder N/A N/A GWAS
Male infertility male infertility with azoospermia or oligozoospermia due to single gene mutation N/A N/A GenCC
Schizophrenia Schizophrenia N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Azoospermia Associate 35172124
Diabetes Mellitus Type 2 Associate 38137029
Thyroid Cancer Papillary Associate 36211409
Thyroid Neoplasms Associate 33711033