Gene Gene information from NCBI Gene database. Download as csv Download as pdf
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

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

7 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
MIRT2640488	hsa-miR-3161	CLIP-seq
MIRT2640489	hsa-miR-576-5p	CLIP-seq

22 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
GO:0005515	Function	Protein binding	IPI	14603251, 16189514, 21988832, 25416956, 33961781
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0007283	Process	Spermatogenesis	IBA
GO:0007283	Process	Spermatogenesis	IEA
GO:0007283	Process	Spermatogenesis	ISS
GO:0010608	Process	Post-transcriptional regulation of gene expression	IMP	21436445
GO:0030154	Process	Cell differentiation	IEA
GO:0030719	Process	P granule organization	IBA
GO:0033391	Component	Chromatoid body	ISS
GO:0034587	Process	PiRNA processing	IBA
GO:0035770	Component	Ribonucleoprotein granule	IDA	21436445
GO:0035770	Component	Ribonucleoprotein granule	IEA
GO:0043186	Component	P granule	IBA
GO:0070306	Process	Lens fiber cell differentiation	IBA
GO:0070306	Process	Lens fiber cell differentiation	IEA
GO:0070306	Process	Lens fiber cell differentiation	IMP	21436445

MIM	HGNC	e!Ensembl
611258	30831	ENSG00000196116

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
PF00567	TUDOR	648 → 775	Tudor domain	Domain
PF00567	TUDOR	908 → 1026	Tudor domain	Domain
PF00567	TUDOR	459 → 581	Tudor domain	Domain
PF12872	OST-HTH	5 → 72	OST-HTH/LOTUS domain	Domain
PF12872	OST-HTH	233 → 277	OST-HTH/LOTUS 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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cataract 36	Pathogenic; Likely pathogenic	rs2131165749, rs2490721602, rs748412471, rs750207077, rs765628635, rs1554744860, rs1554743428, rs1477743112	RCV001614464 RCV003318472 RCV003234833 RCV000023890 RCV000488876 RCV000656384 RCV000656385 RCV000985207 View all (3 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal. Show/Hide Unknown Diseases (15)
ATYPICAL FEMORAL FRACTURE	—	GWAS catalog	31006051	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT	—	CTD	21436445	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CATARACT	—	Disgenet	24435515,25120344	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental cataract	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA	—	CTD, Disgenet CTD, Disgenet	21436445	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFERTILITY, MALE	—	CTD	21436445	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALE INFERTILITY	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TDRD7-related disorder	Likely benign; Conflicting classifications of pathogenicity; Uncertain significance; Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (17)
Azoospermia	Azoospermia	BEFREE	28837160, 31048812		★★★★★ ★☆☆☆☆ Found in Text Mining only
Azoospermia, Nonobstructive	Azoospermia	BEFREE	28837160, 31048812		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	35273654	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	21436445		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract	Cataract	CTD_human_DG	21436445		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract	Cataract	Pubtator	25120344, 33339270, 33923544	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract	Cataract	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT 36	Cataract	GENOMICS_ENGLAND_DG	24435515		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CATARACT 36	Cataract	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CATARACT 36	Cataract	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32828126, 34080453, 34169901	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital cataract	Congenital Cataract	GENOMICS_ENGLAND_DG	24435515		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital cataract	Congenital Cataract	BEFREE	28837160, 31048812		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glaucoma	Glaucoma	CTD_human_DG	21436445		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glaucoma	Glaucoma	BEFREE	21436445		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasms	Neoplasms	BEFREE	29626124		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pseudoaphakia	Cataract	CTD_human_DG	21436445		★★★★★ ★☆☆☆☆ Found in Text Mining only

TDRD7 (tudor domain containing 7)

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