TDRD7 - tudor domain containing 7 Gene

Also Known as TRAP; CATC4; PCTAIRE2BP

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 23424

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
Molecular Function GO Annotation Evidence Verweise 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 Verweise 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 Verweise 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

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)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1098 a.a.
Protein Preferred Names Protein Names

tudor domain-containing protein 7

  • PCTAIRE2-binding protein

TDRD7 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Verweise
Intra
TDRD7 Q8NHU6 CDKN2A Homo sapiens P42771 21988832
Intra
TDRD7 Q8NHU6 GABPB1 Homo sapiens Q06547 25416956
Intra
TDRD7 Q8NHU6 TACC1 Homo sapiens O75410-1 14603251
Intra
TDRD7 Q8NHU6 TACC1 Homo sapiens O75410-1 14603251
Cross: Cross-species interaction Intra: Intraspecies interaction

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
Others TDRD7 NCBI