1. Gene
  2. TDRD7 - tudor domain containing 7 Gene

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

TDRD7 Protein Structure

OST-HTH

OST-HTH: OST-HTH/LOTUS domain (8 - 69)

TUDOR

TUDOR: Tudor domain (460 - 581)

TUDOR

TUDOR: Tudor domain (649 - 774)

TUDOR

TUDOR: Tudor domain (909 - 1026)

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  • 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

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