Tdrd6 tudor domain containing 6 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Tdrd6provided by MGI
Official Full Name: tudor domain containing 6provided by MGI
Primary source: MGI:MGI:2679727
See related: Ensembl:ENSMUSG00000040140 AllianceGenome:MGI:2679727
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Tdr2
Summary: Involved in spermatogenesis and spliceosomal snRNP assembly. Acts upstream of or within germ cell development. Located in P granule; chromatoid body; and endoplasmic reticulum. Part of ribonucleoprotein complex. Is active in synapse. Is expressed in primary spermatocyte; spermatid; spermatocyte; and testis. Orthologous to human TDRD6 (tudor domain containing 6). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Restricted expression toward testis adult (RPKM 29.9) See more
Orthologs: human all
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Genomic context

Location:: 17 B3; 17 19.75 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	17	NC_000083.7 (43926225..43942737, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	17	NC_000083.6 (43615334..43631846, complement)

Chromosome 17 - NC_000083.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Bi-allelic variants in chromatoid body protein TDRD6 cause spermiogenesis defects and severe oligoasthenoteratozoospermia in humans.
Title: Bi-allelic variants in chromatoid body protein TDRD6 cause spermiogenesis defects and severe oligoasthenoteratozoospermia in humans.
TDRD6 has a role in spliceosome maturation and mRNA splicing in prophase I spermatocytes
Title: TDRD6 mediates early steps of spliceosome maturation in primary spermatocytes.
Upon removal of TDRD6, the association of several mRNAs with UPF1 and UPF2 is disturbed, and the long 3' UTR-stimulated but not the downstream exon-exon junction triggered pathway of NMD is impaired.This function depends on TDRD6-promoted assembly of mRNA and decay enzymes in Chromatoid bodies .
Title: Chromatoid Body Protein TDRD6 Supports Long 3' UTR Triggered Nonsense Mediated mRNA Decay.
Results suggest that Tdrd6 is essential for spermiogenesis, for chromatoid body structure, and for proper mature and precursor miRNA expression.
Title: Tdrd6 is required for spermiogenesis, chromatoid body architecture, and regulation of miRNA expression.
Tudor-related proteins, which contain multiple repeats of the Tudor domain, constitute an evolutionarily conserved class of nuage components in the germ-line, and their localization or accumulation to nuage is likely conferred by a Tudor domain structure
Title: Tudor-related proteins TDRD1/MTR-1, TDRD6 and TDRD7/TRAP: domain composition, intracellular localization, and function in male germ cells in mice.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
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
acts_upstream_of_or_within germ cell development	IDA Inferred from Direct Assay more info	PubMed
involved_in oogenesis	IEA Inferred from Electronic Annotation more info
involved_in piRNA processing	IBA Inferred from Biological aspect of Ancestor more info
involved_in spermatogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in spermatogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in spermatogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in spliceosomal snRNP assembly	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in P granule	IBA Inferred from Biological aspect of Ancestor more info
located_in P granule	IDA Inferred from Direct Assay more info	PubMed
located_in chromatoid body	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
part_of ribonucleoprotein complex	IDA Inferred from Direct Assay more info	PubMed
is_active_in synapse	EXP Inferred from Experiment more info	PubMed
is_active_in synapse	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: tudor domain-containing protein 6

Names: tudor repeat 2 protein

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.

mRNA and Protein(s)

NM_001161366.1 → NP_001154838.1 tudor domain-containing protein 6 isoform 1

Status: VALIDATED

Description

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

Source sequence(s)

AC154647, BC145247, BU605232, CT010585

Consensus CDS

CCDS50115.1

UniProtKB/Swiss-Prot

P61407

UniProtKB/TrEMBL

F2Z429

Related

ENSMUSP00000035338.7, ENSMUST00000045717.7

Conserved Domains (2) summary

cd04508
Location:547 → 591

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 ...

pfam00567
Location:1519 → 1641

TUDOR; Tudor domain
NM_001161367.1 → NP_001154839.1 tudor domain-containing protein 6 isoform 3

Status: VALIDATED

Description

Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 3' coding region compared to variant 1. The encoded isoform (3) is shorter compared to isoform 1.

Source sequence(s)

AC154647, BC145248, BU605232, CT010585

UniProtKB/TrEMBL

B7ZNI0

Conserved Domains (2) summary

cd04508
Location:547 → 591

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 ...

pfam00567
Location:1519 → 1641

TUDOR; Tudor domain
NM_001357985.1 → NP_001344914.1 tudor domain-containing protein 6 isoform 4

Status: VALIDATED

Source sequence(s)

AC154647, CT010585

Consensus CDS

CCDS89099.1

UniProtKB/TrEMBL

A0A3B2W3Z0, B2RRD1

Related

ENSMUSP00000156656.2, ENSMUST00000233077.2

Conserved Domains (1) summary

smart00333
Location:1376 → 1434

TUDOR; Tudor domain
NM_198418.2 → NP_940810.2 tudor domain-containing protein 6 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site compared to variant 1. This results in a shorter protein (isoform 2) compared to isoform 1.

Source sequence(s)

AB097085, BU605232, CT010585

Consensus CDS

CCDS28797.1

UniProtKB/Swiss-Prot

P61407

UniProtKB/TrEMBL

E9PZ50

Related

ENSMUSP00000131277.3, ENSMUST00000168073.9

Conserved Domains (2) summary

cd04508
Location:547 → 591

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 ...

pfam00567
Location:1519 → 1641

TUDOR; Tudor domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000083.7 Reference GRCm39 C57BL/6J

Range

43926225..43942737 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006523968.4 → XP_006524031.1 tudor domain-containing protein 6 isoform X3

UniProtKB/TrEMBL

B2RRD1

Conserved Domains (1) summary

pfam00567
Location:1332 → 1447

TUDOR; Tudor domain
XM_011246343.3 → XP_011244645.1 tudor domain-containing protein 6 isoform X2

UniProtKB/Swiss-Prot

P61407

Conserved Domains (1) summary

pfam00567
Location:1525 → 1640

TUDOR; Tudor domain
XM_006523967.4 → XP_006524030.1 tudor domain-containing protein 6 isoform X1

UniProtKB/TrEMBL

B7ZNI0

Conserved Domains (1) summary

pfam00567
Location:1525 → 1640

TUDOR; Tudor domain