TDRD7 tudor domain containing 7 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TDRD7provided by HGNC
Official Full Name: tudor domain containing 7provided by HGNC
Primary source: HGNC:HGNC:30831
See related: Ensembl:ENSG00000196116 MIM:611258; AllianceGenome:HGNC:30831
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: TRAP; CATC4; PCTAIRE2BP
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]
Expression: Broad expression in testis (RPKM 24.1), duodenum (RPKM 7.8) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9q22.33

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (97412096..97496125)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (109584046..109668073)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (100174378..100258407)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TDRD7 participates in lens development and spermiogenesis by mediating autophagosome maturation.
Title: TDRD7 participates in lens development and spermiogenesis by mediating autophagosome maturation.
The interferon-inducible protein TDRD7 inhibits AMP-activated protein kinase and thereby restricts autophagy-independent virus replication.
Title: The interferon-inducible protein TDRD7 inhibits AMP-activated protein kinase and thereby restricts autophagy-independent virus replication.
Our purpose was to uncover novel human mutations and genes causing familial nonobstructive azoospermia and congenital cataract. Two novel loss-of-function mutations (c.324_325insA (T110Nfs*30) and c.688_689insA (p.Y230X), respectively) of TDRD7 were found in the affected patients
Title: Loss-of-function mutations in TDRD7 lead to a rare novel syndrome combining congenital cataract and nonobstructive azoospermia in humans.
Human cataracts and the TDRD7 gene loss-of-function mutations are strongly causally related, as the expression level of plasma TDRD7 mRNA in patients with cataracts was statistically significantly lower than in the normal control group.
Title: Comparative quantification of plasma TDRD7 mRNA in cataract patients by real-time polymerase chain reaction.
present study suggests that the rs10981985 G --> A variant within the TDRD7 gene may protect against cortical age-related cataract in a Han Chinese population
Title: RNA granule component TDRD7 gene polymorphisms in a Han Chinese population with age-related cataract.
study describes 2 cases of pediatric cataract with loss-of-function mutations in TDRD7; TDRD7 coimmunoprecipitates with specific lens mRNAs; required for posttranscriptional control of mRNAs critical to normal lens development and RNA granule function
Title: Mutations in the RNA granule component TDRD7 cause cataract and glaucoma.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Cataract 36 MedGen: C3151304 OMIM: 613887 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables mRNA binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in P granule organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in lens fiber cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in lens fiber cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lens morphogenesis in camera-type eye	IBA Inferred from Biological aspect of Ancestor more info
involved_in lens morphogenesis in camera-type eye	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in piRNA processing	IBA Inferred from Biological aspect of Ancestor more info
involved_in post-transcriptional regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in spermatogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in spermatogenesis	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
is_active_in P granule	IBA Inferred from Biological aspect of Ancestor more info
located_in chromatoid body	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in ribonucleoprotein granule	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: tudor domain-containing protein 7

Names: PCTAIRE2-binding protein; epididymis secretory sperm binding protein; tudor repeat associator with PCTAIRE 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_028984.1 RefSeqGene

Range

5077..89106

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001302884.2 → NP_001289813.1 tudor domain-containing protein 7 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in its 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream AUG compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1.

Source sequence(s)

AK294488, AL122110, AL449464, AL512590

UniProtKB/TrEMBL

A0A384P5M7

Conserved Domains (5) summary

cd04508
Location:633 → 678

TUDOR; Tudor domains are found in many eukaryotic organisms and have been implicated in protein-protein interactions in which methylated protein substrates bind to these domains. For example, the Tudor domain of Survival of Motor Neuron (SMN) binds to ...

cd09973
Location:160 → 226

LOTUS_2_TDRD7; The second LOTUS domain on Tudor-containing protein 7 (TDRD7)

cd09974
Location:264 → 330

LOTUS_3_TDRD7; The third LOTUS domain on Tudor-containing protein 7 (TDRD7)

pfam00567
Location:835 → 952

TUDOR; Tudor domain

cl14879
Location:1 → 17

LabA_like_C; C-terminal domain of LabA_like proteins
NM_014290.3 → NP_055105.2 tudor domain-containing protein 7 isoform 1

See identical proteins and their annotated locations for NP_055105.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AL449464, BC028694

Consensus CDS

CCDS6725.1

UniProtKB/Swiss-Prot

A6NCI6, B2RBX3, B4DG99, B4DXF7, E7EQD4, Q5VV27, Q8NHU6, Q96JT1, Q9UFF0, Q9Y2M3

UniProtKB/TrEMBL

A0A384P5M7

Related

ENSP00000347444.4, ENST00000355295.5

Conserved Domains (5) summary

cd04508
Location:707 → 752

TUDOR; Tudor domains are found in many eukaryotic organisms and have been implicated in protein-protein interactions in which methylated protein substrates bind to these domains. For example, the Tudor domain of Survival of Motor Neuron (SMN) binds to ...

cd09973
Location:234 → 300

LOTUS_2_TDRD7; The second LOTUS domain on Tudor-containing protein 7 (TDRD7)

cd09974
Location:338 → 404

LOTUS_3_TDRD7; The third LOTUS domain on Tudor-containing protein 7 (TDRD7)

cd09986
Location:4 → 91

LOTUS_1_TDRD7; The first LOTUS domain on Tudor-containing protein 7 (TDRD7)

pfam00567
Location:909 → 1026

TUDOR; Tudor domain