TDRD7 - tudor domain containing 7 Gene

Homo sapiens

Also known as TRAP; CATC4; PCTAIRE2BP

Gene ID: 23424 | Gene type: protein coding

About TDRD7

Cytogenetic location: 9q22.33 Genomic coordinates (GRCh38): 9:97,412,096-97,496,125 (from NCBI)

This gene has 2 transcripts (splice variants), 265 orthologues, 6 paralogues and is associated with 3 phenotypes. Broad expression in testis (RPKM 24.1), duodenum (RPKM 7.8) and 24 other tissues.

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 with cataract formation in mouse and human. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

TDRD7 Products(2)

mRNA	Protein	Name
NM_001302884.2	NP_001289813.1	tudor domain-containing protein 7 isoform 2
NM_014290.3	NP_055105.2	tudor domain-containing protein 7 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables mRNA binding	IDA IDA: Inferred from direct assay	21436445	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	14603251	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in lens fiber cell differentiation	IMP IMP: Inferred from mutant phenotype	21436445	GOA
involved in lens morphogenesis in camera-type eye	IMP IMP: Inferred from mutant phenotype	21436445	GOA
involved in post-transcriptional regulation of gene expression	IMP IMP: Inferred from mutant phenotype	21436445	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in ribonucleoprotein granule	IDA IDA: Inferred from direct assay	21436445	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TDRD7 Protein Structure

OST-HTH

TUDOR

0
200
400
600
800
1000
1098 a.a.

Protein Preferred Names

Protein Names

tudor domain-containing protein 7

PCTAIRE2-binding protein

Related Diseases

Diseases

Alias

Cataract 36

CTRCT36	Catc4
Autosomal Recessive Congenital Cataract 4	Cataract, Autosomal Recessive Congenital 4
Cataract, Type 36

Cataract

Cataracts	Cat - [Cataract]
Cataract Form	Lens Opacity
Lens Opacities

Deprivation Amblyopia

Disuse Amblyopia

Stimulus Deprivation Amblyopia

Deafness, Autosomal Dominant 5

DFNA5	Autosomal Dominant Nonsyndromic Deafness 5
Autosomal Dominant Deafness 5	Deafness, Autosomal Dominant, 5
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 5	Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 5
Deafness, Autosomal Dominant, Type 5

Ayme-Gripp Syndrome

AYGRP	Cataracts, Congenital, With Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, And Mental Retardation
Aymé-Gripp Syndrome	Fine-Lubinsky Syndrome
Brachycephaly-Deafness-Cataract-Intellectual Disability Syndrome	Brachycephaly-Hearing Loss-Cataract-Intellectual Disability Syndrome

Differentiating Neuroblastoma

Juvenile Glaucoma

Glaucoma Of Childhood

Hydrophthalmos

Amblyopia

Lazy Eye

Anterior Segment Dysgenesis

Anterior Segment Developmental Anomaly	Anterior Segment Mesenchymal Dysgenesis
Corneal Opacification And Other Ocular Anomalies	Sclerocornea With Other Ocular Anomalies
Asmd	Asod
Anterior Segment Ocular Dysgenesis	Foxe3-Related Ocular Disorder
Familial Ocular Anterior Segment Mesenchymal Dysgenesis	Dysgenesis, Anterior Segment
Irido-Corneal Dysgenesis	Axenfeld-Rieger Syndrome, Type 3

Spermatogenic Failure

Azoospermia	Spgf
Spermatogenic Failure, Susceptibility To	Absent Sperm
Aspermatogenesis	Infertility Due To Azoospermia
Hypospermatogenesis	Azoospermatism

Nanophthalmos

Nanophthalmia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14338	TDRD7 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	TDRD7	VGNC	VGNC:79886
Rattus norvegicus	TDRD7	RGD	RGD:619724
Bos taurus	TDRD7	VGNC	VGNC:35721
Mus musculus	TDRD7	MGD	MGI:2140279
Felis catus	TDRD7	VGNC	VGNC:66050
Canis familiaris	TDRD7	VGNC	VGNC:47225

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