Asb2 ankyrin repeat and SOCS box-containing 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Asb2provided by MGI
Official Full Name: ankyrin repeat and SOCS box-containing 2provided by MGI
Primary source: MGI:MGI:1929743
See related: Ensembl:ENSMUSG00000021200 AllianceGenome:MGI:1929743
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: 1110008E15Rik
Summary: Contributes to ubiquitin protein ligase activity. Involved in several processes, including heart development; podosome assembly; and skeletal muscle atrophy. Acts upstream of or within cellular protein metabolic process; myoblast differentiation; and skeletal muscle cell differentiation. Located in Z disc. Part of Cul5-RING ubiquitin ligase complex. Is expressed in several structures, including embryo mesenchyme; genitourinary system; gut; heart; and musculature. Orthologous to human ASB2 (ankyrin repeat and SOCS box containing 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in heart adult (RPKM 165.8), spleen adult (RPKM 62.0) and 11 other tissues See more
Orthologs: human all
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Genomic context

Location:: 12 E; 12 52.9 cM

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	12	NC_000078.7 (103287401..103322260, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	12	NC_000078.6 (103321142..103356001, complement)

Chromosome 12 - NC_000078.7 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
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?

ASB2 is a novel E3 ligase of SMAD9 required for cardiogenesis.
Title: ASB2 is a novel E3 ligase of SMAD9 required for cardiogenesis.
Heart defects and embryonic lethality in Asb2 knock out mice correlate with placental defects.
Title: Heart defects and embryonic lethality in Asb2 knock out mice correlate with placental defects.
Asb2alpha is a key regulator of cardiac cell differentiation. Asb2alpha E3 ubiquitin ligase controls Flna stability in immature cardiomyocytes.
Title: Asb2α-Filamin A Axis Is Essential for Actin Cytoskeleton Remodeling During Heart Development.
This study identifies desmin as a new Asb2b target for proteasomal degradation in cardiomyocytes and suggests that accumulation of desmin could contribute to UPS impairment in Hypertrophic cardiomyopathy mice and patients
Title: The E3 ubiquitin ligase Asb2β is downregulated in a mouse model of hypertrophic cardiomyopathy and targets desmin for proteasomal degradation.
ASB2(-/-) immature dendritic cells exhibit reduced matrix-degrading function leading to defective migration.
Title: ASB2α regulates migration of immature dendritic cells.
ASB2alpha is a novel regulator of integrin-dependent adhesion of hematopoietic cells
Title: Functional and structural insights into ASB2alpha, a novel regulator of integrin-dependent adhesion of hematopoietic cells.
ASB2beta is part of an active E3 ubiquitin ligase complex and targets the actin-binding protein filamin B for proteasomal degradation.
Title: The E3 ubiquitin ligase specificity subunit ASB2beta is a novel regulator of muscle differentiation that targets filamin B to proteasomal degradation.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Targeted (4) 1 citation
Endonuclease-mediated (3)

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:236934

AW146090 (e-PCR)
- UniSTS:208858

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables cullin family protein binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
contributes_to ubiquitin protein ligase activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in actin cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cardiac muscle cell development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cardiac muscle cell differentiation	ISO Inferred from Sequence Orthology more info
involved_in dendritic cell migration	IDA Inferred from Direct Assay more info	PubMed
involved_in heart looping	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intracellular signal transduction	IEA Inferred from Electronic Annotation more info
involved_in podosome assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process	ISO Inferred from Sequence Orthology more info
involved_in protein ubiquitination	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein ubiquitination	ISO Inferred from Sequence Orthology more info
involved_in skeletal muscle atrophy	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within skeletal muscle cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ubiquitin-dependent protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in ubiquitin-dependent protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ubiquitin-dependent protein catabolic process	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in Z disc	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
part_of ubiquitin ligase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of ubiquitin ligase complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: ankyrin repeat and SOCS box protein 2

Names: ASB-2; ankyrin repeat and SOCS box-containing protein 2; ankyrin repeat-containing SOCS box protein 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.

mRNA and Protein(s)

NM_001374764.1 → NP_001361693.1 ankyrin repeat and SOCS box protein 2 isoform 2

Status: VALIDATED

Source sequence(s)

AC160131, AK083400

Consensus CDS

CCDS88394.1

Related

ENSMUSP00000117595.2, ENSMUST00000149431.2

Conserved Domains (4) summary

PHA02876
Location:105 → 421

PHA02876; ankyrin repeat protein; Provisional

cd03721
Location:542 → 586

SOCS_ASB2; SOCS (suppressors of cytokine signaling) box of ASB2-like proteins. ASB family members have a C-terminal SOCS box and an N-terminal ankyrin-related sequence. ASB2 targets specific proteins to destruction by the proteasome in leukemia cells that have been ...

sd00045
Location:189 → 220

ANK; ANK repeat [structural motif]

pfam13637
Location:58 → 109

Ank_4; Ankyrin repeats (many copies)
NM_023049.1 → NP_075536.1 ankyrin repeat and SOCS box protein 2 isoform 1

See identical proteins and their annotated locations for NP_075536.1

Status: PROVISIONAL

Source sequence(s)

BC031161

Consensus CDS

CCDS26128.1

UniProtKB/Swiss-Prot

Q8K0L0, Q9CTH4, Q9WV73

Related

ENSMUSP00000021617.8, ENSMUST00000021617.14

Conserved Domains (4) summary

PHA03095
Location:199 → 480

PHA03095; ankyrin-like protein; Provisional

sd00045
Location:237 → 268

ANK; ANK repeat [structural motif]

pfam12796
Location:112 → 202

Ank_2; Ankyrin repeats (3 copies)

cl02533
Location:590 → 634

SOCS; SOCS (suppressors of cytokine signaling) box. The SOCS box is found in the C-terminal region of CIS/SOCS family proteins (in combination with a SH2 domain), ASBs (ankyrin repeat-containing proteins with a SOCS box), SSBs (SPRY domain-containing proteins ...