Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	122402
Gene name	Tudor domain containing 9
Gene symbol	TDRD9
Synonyms (NCBI Gene)	C14orf75HIG-1HLSNET54SPGF30SPNE
Chromosome	14
Chromosome location	14q32.33

Show/Hide all (1)

SNP ID	Visualize variation	Clinical significance	Consequence
rs765353898	TAGT>-	Pathogenic	Genic upstream transcript variant, 5 prime UTR variant, frameshift variant, coding sequence variant

Show/Hide all (15)

miRTarBase ID	miRNA	Experiments
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
MIRT1417164	hsa-miR-3138	CLIP-seq
MIRT1417165	hsa-miR-3591-3p	CLIP-seq
MIRT1417166	hsa-miR-3612	CLIP-seq
MIRT1417167	hsa-miR-3916	CLIP-seq
MIRT1417168	hsa-miR-4443	CLIP-seq
MIRT1417169	hsa-miR-4455	CLIP-seq
MIRT1417170	hsa-miR-4494	CLIP-seq
MIRT1417171	hsa-miR-4717-5p	CLIP-seq
MIRT1417172	hsa-miR-4800-5p	CLIP-seq
MIRT1417173	hsa-miR-650	CLIP-seq

Show/Hide all (37)

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
GO:0004386	Function	Helicase activity	IEA
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	28536242
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	28536242
GO:0005737	Component	Cytoplasm	IEA
GO:0007140	Process	Male meiotic nuclear division	IEA
GO:0007140	Process	Male meiotic nuclear division	ISS
GO:0007141	Process	Male meiosis I	IEA
GO:0007141	Process	Male meiosis I	ISS
GO:0007283	Process	Spermatogenesis	IEA
GO:0007283	Process	Spermatogenesis	IMP	28536242
GO:0007283	Process	Spermatogenesis	ISS
GO:0009566	Process	Fertilization	IEA
GO:0009566	Process	Fertilization	ISS
GO:0010526	Process	Transposable element silencing	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0016887	Function	ATP hydrolysis activity	ISS
GO:0030154	Process	Cell differentiation	IEA
GO:0031047	Process	Regulatory ncRNA-mediated gene silencing	IEA
GO:0034587	Process	PiRNA processing	IEA
GO:0034587	Process	PiRNA processing	ISS
GO:0051321	Process	Meiotic cell cycle	IEA
GO:0071547	Component	PiP-body	IEA
GO:0071547	Component	PiP-body	ISS
GO:0141006	Process	Transposable element silencing by piRNA-mediated heterochromatin formation	IEA
GO:0141006	Process	Transposable element silencing by piRNA-mediated heterochromatin formation	ISS
GO:0141196	Process	Transposable element silencing by piRNA-mediated DNA methylation	IEA
GO:0141196	Process	Transposable element silencing by piRNA-mediated DNA methylation	ISS

MIM	HGNC	e!Ensembl
617963	20122	ENSG00000156414

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
SAKSLMEFTHIIIDEVHERTEEMDFLLLVVRKLLRTNSRFVKVVLMSATISCKEFADYFA
VPVQNKMNPAYIFEVEGKPHSVEEYYLNDLEHIHHSKLSPHLLEEPVITKDIYEVAVSLI
QMFDDLDMKESGNKAWSGAQFVLERSSVLVFLPGLGEINYMHELLTSLVHKRLQVYPLHS
SVALEEQNNVFLSPVPGYRKIILSTNIAESSVTVPDVKYVIDFCLTRTLVCDEDTNYQSL
RLSWASKTSCNQRKGRAGRVSRGYCYRLVHKDFWDNSIPDHVVPEMLRCPLGSTILKVKL
LDMGEPRALLATALSPPGLSDIERTILLLKEVGALAVSGQREDENPHDGELTFLGRVLAQ
LPVNQQLGKLIVLGHVFGCLDECLIIAAALSLKNFFAMPFRQHLDGYRNKVNFSGSSKSD
CIALVEAFKTWKACRQTGELRYPKDELNWGRLNYIQIKRIREVAELYEELKTRISQFNMH
VDSRRPVMDQEYIYKQRFILQVVLAGAFYPNYFTFGQPDEEMAVRELAGKDPKTTVVLKH
IPPYGFLYYKQLQSLFRQCGQVKSIVFDGAKAFVEFSRNPTERFKTLPAVYMAIKMSQLK
VSLELSVHSAEEIEGKVQGMNVSKLRNTRVNVDFQKQTVDPMQVSFNTSDRSQTVTDLLL
TIDVTEVVEVGHFWGYRIDENNSEILKKLTAEINQLTLVPLPTHPHPDLVCLAPFADFDK
QRYFRAQVLYVSGNSAEVFFVDYGNKSHVDLHLLMEIPCQFLELPFQALEFKICKMRPSA
KSLVCGKHWSDGASQWFASLVSGCTLLVKVFSVVHSVLHVDVYQYSGVQDAINIRDVLIQ
QGYAELTEESYESKQSHEVLKGLFSKSVENMTDGSVPFPMKDDEKYLIRILLESFSTNKL
GTPNCKAELHGPFNPYELKCHSLTRISKFRCVWIEKESINSVIISDAPEDLHQRMLVAAS
LSINATGSTMLLRETSLMPHIPGLPALLSMLFAPVIELRIDQNGKYYTGVLCGLGWNPAT
GASILPEHDMELAFDVQFSVEDVVEVNILRAAINKLVCDGPNGCKCLGPERVAQLQDIAR
QKLLGLFCQSKPREKIVPKWHEKPYEWNQVDPKLVMEQADRESSRGKNTFLYQLHKLVVL
GT

Sequence length

1382

Interactions

View interactions

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Azoospermia	Pathogenic	rs2152252501, rs765353898	RCV001797573 RCV001797124
Male infertility	Likely pathogenic	rs748634340, rs773919914	RCV004573398 RCV004573399
Spermatogenic failure 30	Likely pathogenic; Pathogenic	rs777065614, rs765353898	RCV004566422 RCV000678505

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	rs2511254779	RCV004557982
Malignant tumor of esophagus	Uncertain significance	rs182776644	RCV005936630
Ovarian serous cystadenocarcinoma	Uncertain significance	rs182776644	RCV005936631
TDRD9-related disorder	Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity	rs570254371, rs76761167, rs761150130, rs2273841, rs532678979, rs750015527, rs540412831, rs550509205, rs2032703166, rs867213957, rs150591179, rs201249896, rs202130253, rs147103471, rs2032701619 View all (5 more)	RCV003907167 RCV003919851 RCV003964643 RCV003974598 RCV003911892 RCV003941870 RCV003961547 RCV003981255 RCV003919533 RCV003934455 RCV003914462 RCV003959134 RCV003969279 RCV003926849 RCV003917359 RCV003979126 RCV003976838 RCV003981289 RCV003918412 RCV003910585

Show/Hide Text Mining Associations (4)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Azoospermia	Associate	35172124
Diabetes Mellitus Type 2	Associate	38137029
Thyroid Cancer Papillary	Associate	36211409
Thyroid Neoplasms	Associate	33711033

TDRD9 (tudor domain containing 9)