TDRD7 (tudor domain containing 7)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 23424
Gene name Tudor domain containing 7
Gene symbol TDRD7
Synonyms (NCBI Gene)
CATC4PCTAIRE2BPTRAP
Chromosome 9
Chromosome location 9q22.33
Summary The protein encoded by this gene belongs to the Tudor family of proteins. This protein contains conserved Tudor domains and LOTUS domains. It is a component of RNA granules, which function in RNA processing. Mutations in this gene have been associated wit
SNPs SNP information provided by dbSNP.
4
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (4)
SNP ID Visualize variation Clinical significance Consequence
rs765628635 G>- Pathogenic Intron variant, coding sequence variant, non coding transcript variant, frameshift variant
rs1477743112 G>A Likely-pathogenic Missense variant, coding sequence variant, non coding transcript variant
rs1554743428 ->A Pathogenic 5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1554744860 ->A Pathogenic 5 prime UTR variant, non coding transcript variant, coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
7
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (7)
miRTarBase ID miRNA Experiments Reference
MIRT030170 hsa-miR-26b-5p Microarray 19088304
MIRT051693 hsa-let-7e-5p CLASH 23622248
MIRT2461291 hsa-miR-4803 CLIP-seq
MIRT2640488 hsa-miR-3161 CLIP-seq
MIRT2640489 hsa-miR-576-5p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (22)
GO ID Ontology Definition Evidence Reference
GO:0002089 Process Lens morphogenesis in camera-type eye IBA
GO:0002089 Process Lens morphogenesis in camera-type eye IEA
GO:0002089 Process Lens morphogenesis in camera-type eye IMP 21436445
GO:0003723 Function RNA binding IEA
GO:0003729 Function MRNA binding IDA 21436445
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
611258 30831 ENSG00000196116
Protein Protein information from UniProt database.
Gene SNPs 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.
Q8NHU6
Protein name Tudor domain-containing protein 7 (PCTAIRE2-binding protein) (Tudor repeat associator with PCTAIRE-2) (Trap)
Protein function Component of specific cytoplasmic RNA granules involved in post-transcriptional regulation of specific genes: probably acts by binding to specific mRNAs and regulating their translation. Required for lens transparency during lens development, by
PDB 3RCO
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12872 OST-HTH 5 → 72 OST-HTH/LOTUS domain Domain
PF12872 OST-HTH 233 → 277 OST-HTH/LOTUS domain Domain
PF00567 TUDOR 459 → 581 Tudor domain Domain
PF00567 TUDOR 648 → 775 Tudor domain Domain
PF00567 TUDOR 908 → 1026 Tudor domain Domain
Sequence 
MLEGDLVSKMLRAVLQSHKNGVALPRLQGEYRSLTGDWIPFKQLGFPTLEAYLRSVPAVV
RIETSRSGEITCYAMACTETARIAQLVARQRSSKRKTGRQVNCQMRVKKTMPFFLEGKPK
ATLRQPGFASNFSVGKKPNPAPLRDKGNSVGVKPDAEMSPYMLHTTLGNEAFKDIPVQRH
VTMSTNNRFSPKASLQPPLQMHLSRTSTKEMSDNLNQTVEKPNVKPPASYTYKMDEVQNR
IKEILNKHNNGIWISKLPHFYKELYKEDLNQGILQQFEHWPHICTVEKPCSGGQDLLLYP
AKRKQLLRSELDTEKVPLSPLPGPKQTPPLKGCPTVMAGDFKEKVADLLVKYTSGLWASA
LPKAFEEMYKVKFPEDALKNLASLSDVCSIDYISGNPQKAILYAKLPLPTDKIQKDAGQA
HGDNDIKAMVEQEYLQVEESIAESANTFMEDITVPPLMIPTEASPSVLVVELSNTNEVVI
RYVGKDYSAAQELMEDEMKEYYSKNPKITPVQAVNVGQLLAVNAEEDAWLRAQVISTEEN
KIKVCYVDYGFSENVEKSKAYKLNPKFCSLSFQATKCKLAGLEVLSDDPDLVKVVESLTC
GKIFAVEILDKADIPLVVLYDTSGEDDININATCLKAICDKSLEVHLQVDAMYTNVKVTN
ICSDGTLYCQVPCKGLNKLSDLLRKIEDYFHCKHMTSECFVSLPFCGKICLFHCKGKWLR
VEITNVHSSRALDVQFLDSGTVTSVKVSELREIPPRFLQEMIAIPPQAIKCCLADLPQSI
GMWTPDAVLWLRDSVLNCSDCSIKVTKVDETRGIAHVYLFTPKNFPDPHRSINRQITNAD
LWKHQKDVFLSAISSGADSPNSKNGNMPMSGNTGENFRKNLTDVIKKSMVDHTSAFSTEE
LPPPVHLSKPGEHMDVYVPVACHPGYFVIQPWQEIHKLEVLMEEMILYYSVSEERHIAVE
KDQVYAAKVENKWHRVLLKGILTNGLVSVYELDYGKHELVNIRKVQPLVDMFRKLPFQAV
TAQLAGVKCNQWSEEASMVFRNHVEKKPLVALVQTVIENANPWDRKVVVYLVDTSLPDTD
TWIHDFMSEYLIELSKVN
Sequence length 1098
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
135
Gene SNPs 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
Cataract 36 Pathogenic; Likely pathogenic rs2131165749, rs2490721602, rs748412471, rs750207077, rs765628635, rs1554744860, rs1554743428, rs1477743112 RCV001614464
RCV003318472
RCV003234833
RCV000023890
RCV000488876
RCV000656384
RCV000656385
RCV000985207
Show/Hide Unknown Diseases (9)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign rs16920147 RCV005892928
Developmental cataract Uncertain significance rs886063210 RCV000379448
Gastric cancer Benign rs16920147 RCV005892930
Lung cancer Benign rs16920147 RCV005892931
Show/Hide Text Mining Associations (6)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Carcinoma Renal Cell Stimulate 35273654
Cataract Associate 25120344, 33339270, 33923544
Cataract Age Related Nuclear Associate 24435515
Colorectal Neoplasms Associate 32828126, 34080453, 34169901
Genetic Diseases Inborn Associate 28418495
Neoplasms Associate 35273654