TDRD12 (tudor domain containing 12)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 91646
Gene name Tudor domain containing 12
Gene symbol TDRD12
Synonyms (NCBI Gene)
ECAT8
Chromosome 19
Chromosome location 19q13.11
miRNA miRNA information provided by mirtarbase database.
1
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (1)
miRTarBase ID miRNA Experiments Reference
MIRT2347517 hsa-miR-4330 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (18)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0003676 Function Nucleic acid binding IEA
GO:0003724 Function RNA helicase activity IEA
GO:0004386 Function Helicase activity IEA
GO:0005524 Function ATP binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q587J7
Protein name Putative ATP-dependent RNA helicase TDRD12 (EC 3.6.4.13) (ES cell-associated transcript 8 protein) (Tudor domain-containing protein 12)
Protein function Probable ATP-binding RNA helicase required during spermatogenesis to repress transposable elements and preventing their mobilization, which is essential for the germline integrity. Acts via the piRNA metabolic process, which mediates the repress
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00567 TUDOR 2 → 129 Tudor domain Domain
PF00270 DEAD 447 → 613 DEAD/DEAH box helicase Domain
PF00567 TUDOR 882 → 1001 Tudor domain Domain
Sequence 
MLQLLVLKIEDPGCFWVIIKGCSPFLDHDVDYQKLNSAMNDFYNSTCQDIEIKPLTLEEG
QVCVVYCEELKCWCRAIVKSITSSADQYLAECFLVDFAKNIPVKSKNIRVVVESFMQLPY
RAKKFSLYCTKPVTLHIDFCRDSTDIVPAKKWDNAAIQYFQNLLKATTQVEARLCAVEED
TFEVYLYVTIKDEKVCVNDDLVAKNYACYMSPTKNKNLDYLEKPRLNIKSAPSFNKLNPA
LTLWPMFLQGKDVQGMEDSHGVNFPAQSLQHTWCKGIVGDLRPTATAQDKAVKCNMDSLR
DSPKDKSEKKHHCISLKDTNKRVESSVYWPAKRGITIYADPDVPEASALSQKSNEKPLRL
TEKKEYDEKNSCVKLLQFLNPDPLRADGISDLQQLQKLKGLQPPVVVLRNKIKPCLTIDS
SPLSADLKKALQRNKFPGPSHTESYSWPPIARGCDVVVISHCESNPLLYLLPVLTVLQTG
ACYKSLPSRNGPLAVIVCPGWKKAQFIFELLGEYSMSSRPLHPVLLTIGLHKEEAKNTKL
PRGCDVIVTTPYSLLRLLACQSLLFLRLCHLILDEVEVLFLEANEQMFAILDNFKKNIEV
EERESAPHQIVAVGVHWNKHIEHLIKEFMNDPYIVITAMEEAALYGNVQQVVHLCLECEK
TSSLLQALDFIPSQAQKTLIFTCSVAETEIVCKVVESSSIFCLKMHKEMIFNLQNVLEQW
KKKLSSGSQIILALTDDCVPLLAITDATCVIHFSFPASPKVFGGRLYCMSDHFHAEQGSP
AEQGDKKAKSVLLLTEKDASHAVGVLRYLERADAKVPAELYEFTAGVLEAKEDKKAGRPL
CPYLKAFGFCKDKRICPDRHRINPETDLPRKLSSQALPSFGYIKIIPFYILNATNYFGRI
VDKHMDLYATLNAEMNEYFKDSNKTTVEKVEKFGLYGLAEKTLFHRVQVLEVNQKEDAWA
LDDILVEFIDEGRTGLVTRDQLLHLPEHFHTLPPQAVEFIVCRVKPADNEIEWNPKVTRY
IHHKIVGKLHDAKVILALGNTVWIDPMVHITNLSSLKTSVIDYNVRAEILSMGMGIDNPE
HIEQLKKLREDAKIPACEESLSQTPPRVTGTSPAQDQDHPSEEQGGQGTPPAEDAACLQS
PQPEDTGAEGGAESKTSSENQKPGGYLVFKRWLSSNR
Sequence length 1177
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
7
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Male infertility Likely pathogenic rs1176835993, rs2513339653, rs745891404, rs2513481945 RCV004573404
RCV004573405
RCV004573406
RCV004573407
Show/Hide Text Mining Associations (1)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Carcinoma Adenoid Cystic Associate 21551254