Bend6 BEN domain containing 6 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Bend6provided by MGI
Official Full Name: BEN domain containing 6provided by MGI
Primary source: MGI:MGI:2444572
See related: Ensembl:ENSMUSG00000042182 AllianceGenome:MGI:2444572
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: B230209C24Rik
Summary: Enables chromatin binding activity and transcription corepressor activity. Acts upstream of or within negative regulation of Notch signaling pathway and positive regulation of neuron differentiation. Located in nucleus. Is expressed in telencephalon. Orthologous to human BEND6 (BEN domain containing 6). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in cerebellum adult (RPKM 60.3), cortex adult (RPKM 30.9) and 4 other tissues See more
Orthologs: human all
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Genomic context

Location:: 1; 1 B

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
109	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (33891133..33946925, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (33852052..33907933, complement)

Chromosome 1 - NC_000067.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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?

BEND6 knock down increases neural stem cell self-renewal in neocortex.
Title: BEND6 is a nuclear antagonist of Notch signaling during self-renewal of neural stem cells.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:546686

Bend6 (e-PCR), detects polymorphism
- UniSTS:546686

Homology

Homologs of the Bend6 gene: The Bend6 gene is conserved in human, chimpanzee, Rhesus monkey, dog, cow, rat, and chicken.
Orthologs from Annotation Pipeline: 323 organisms have orthologs with human gene Bend6
Orthologs

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables chromatin binding	IDA Inferred from Direct Assay more info	PubMed
enables transcription corepressor activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables transcription corepressor activity	IGI Inferred from Genetic Interaction more info	PubMed
enables transcription corepressor activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in negative regulation of Notch signaling pathway	IBA Inferred from Biological aspect of Ancestor more info	PubMed
acts_upstream_of_or_within negative regulation of Notch signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of Notch signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within nervous system development	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of neuron differentiation	IBA Inferred from Biological aspect of Ancestor more info	PubMed
acts_upstream_of_or_within positive regulation of neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: BEN domain-containing protein 6

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_001310484.1 → NP_001297413.1 BEN domain-containing protein 6 isoform 2

See identical proteins and their annotated locations for NP_001297413.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate 5' exon compared to variant 1, which results in translation initiation at a downstream AUG. The resulting isoform (2) has a shorter N-terminus compared to isoform 1.

Source sequence(s)

AK044633, BC057378

Consensus CDS

CCDS78557.1

UniProtKB/Swiss-Prot

Q6PFX2

Related

ENSMUSP00000110814.2, ENSMUST00000115161.8

Conserved Domains (1) summary

smart01025
Location:128 → 209

BEN; The BEN domain is found in diverse animal proteins
NM_177235.3 → NP_796209.2 BEN domain-containing protein 6 isoform 1

See identical proteins and their annotated locations for NP_796209.2

Status: VALIDATED

Description

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

Source sequence(s)

BC057378

Consensus CDS

CCDS35533.1

UniProtKB/Swiss-Prot

Q6PFX2, Q8BXN2

Related

ENSMUSP00000052919.9, ENSMUST00000062289.11

Conserved Domains (1) summary

smart01025
Location:190 → 271

BEN; The BEN domain is found in diverse animal proteins

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...

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

Reference GRCm39 C57BL/6J

Genomic

NC_000067.7 Reference GRCm39 C57BL/6J

Range

33891133..33946925 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017321224.3 → XP_017176713.1 BEN domain-containing protein 6 isoform X1

Conserved Domains (1) summary

PRK00252
Location:66 → 102

alaS; alanyl-tRNA synthetase; Reviewed