TDRD7 (tudor domain containing 7)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23424
Gene name Gene Name - the full gene name approved by the HGNC.
Tudor domain containing 7
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TDRD7
Synonyms (NCBI Gene) Gene synonyms aliases
CATC4, PCTAIRE2BP, TRAP
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9q22.33
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(11)
GO ID Ontology Definition Evidence Reference
GO:0002089 Process Lens morphogenesis in camera-type eye IMP 21436445
GO:0003729 Function MRNA binding IDA 21436445
GO:0005515 Function Protein binding IPI 14603251, 16189514, 21988832, 25416956
GO:0005737 Component Cytoplasm ISS
GO:0005759 Component Mitochondrial matrix IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
611258 30831 ENSG00000196116
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (2)
Causal
Disease term Disease name dbSNP ID References
Cataract Cataract, Pseudoaphakia, CATARACT 36 rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322
View all (150 more)		 21436445, 24435515
Glaucoma Glaucoma rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328
View all (29 more)		 21436445
Show/Hide Text Mining Associations (6)
Associations from Text Mining
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