ASB2 ankyrin repeat and SOCS box containing 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ASB2provided by HGNC
Official Full Name: ankyrin repeat and SOCS box containing 2provided by HGNC
Primary source: HGNC:HGNC:16012
See related: Ensembl:ENSG00000100628 MIM:605759; AllianceGenome:HGNC:16012
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: ASB-2
Summary: This gene encodes a member of the ankyrin repeat and SOCS box-containing (ASB) protein family. These proteins play a role in protein degradation by coupling suppressor of cytokine signalling (SOCS) proteins with the elongin BC complex. The encoded protein is a subunit of a multimeric E3 ubiquitin ligase complex that mediates the degradation of actin-binding proteins. This gene plays a role in retinoic acid-induced growth inhibition and differentiation of myeloid leukemia cells. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]
Expression: Biased expression in heart (RPKM 15.5), prostate (RPKM 8.6) and 12 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 14q32.12

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (93934166..93976570, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (88161475..88203881, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (94400512..94442916, complement)

Chromosome 14 - NC_000014.9 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: 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?

functionally relevant miRNA/mRNA interactions were identified in skeletal muscles of myotonic dystrophy type 1 patients, highlighting the dysfunction of miR-29c and ASB2.
Title: High-throughput analysis of the RNA-induced silencing complex in myotonic dystrophy type 1 patients identifies the dysregulation of miR-29c and its target ASB2.
Notch signaling can initiate Asb2 transcription and NF-kappa B activation in T cell acute lymphoblastic leukemia cells.
Title: The notch pathway promotes NF-κB activation through Asb2 in T cell acute lymphoblastic leukemia cells.
Using ASB2 conditional knockout mice.
Title: Substrates of the ASB2α E3 ubiquitin ligase in dendritic cells.
Phosphorylation of serine 323 of ASB2 alpha by Erk kinases is critical for ASB2alpha-mediated degradation of FLNA.
Title: Phosphorylation of serine 323 of ASB2α is pivotal for the targeting of filamin A to degradation.
data therefore reveal ubiquitin acceptor sites in FLNa and establish that ASB2alpha-mediated effects on cell spreading are due to loss of filamins.
Title: ASB2α, an E3 ubiquitin ligase specificity subunit, regulates cell spreading and triggers proteasomal degradation of filamins by targeting the filamin calponin homology 1 domain.
Data show that neither endogenous nor exogenously expressed ASB2alpha induces degradation of JAK proteins in hematopoietic cells
Title: Filamins but not Janus kinases are substrates of the ASB2α cullin-ring E3 ubiquitin ligase in hematopoietic cells.
These results suggest that ASB2beta but not ASB2alpha might be monoubiquitinated and that the ASB2beta UIM motif, but not its E3 Ub ligase activity, plays a pivotal role in this monoubiquitination.
Title: The ASB2β Ubiquitin-interacting motif is involved in its monoubiquitination.
A model whereby ASB2 contributes to hematopoietic differentiation, in part, through MLL degradation and HOX gene down-regulation.
Title: ECSASB2 mediates MLL degradation during hematopoietic differentiation.
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.
By shifting monomeric E3 ligase complexes to dimeric forms through activation of Asb2 transcription, Notch could effectively control the turnover of a variety of substrates and it exerts diverse effects on cell proliferation and differentiation.
Title: Notch-induced Asb2 expression promotes protein ubiquitination by forming non-canonical E3 ligase complexes.

Submit: New GeneRIF Correction See all GeneRIFs (11)

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

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 cullin family protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
contributes_to ubiquitin protein ligase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in actin cytoskeleton organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in cardiac muscle cell development	ISS Inferred from Sequence or Structural Similarity more info
involved_in cardiac muscle cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in dendritic cell migration	ISS Inferred from Sequence or Structural Similarity more info
involved_in heart looping	IEA Inferred from Electronic Annotation more info
involved_in intracellular signal transduction	IEA Inferred from Electronic Annotation more info
involved_in podosome assembly	ISS Inferred from Sequence or Structural Similarity more info
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	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein ubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in protein ubiquitination	IEA Inferred from Electronic Annotation more info
involved_in regulation of barbed-end actin filament capping	IBA Inferred from Biological aspect of Ancestor more info
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed
involved_in skeletal muscle atrophy	ISS Inferred from Sequence or Structural Similarity more info
involved_in skeletal muscle cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in ubiquitin-dependent protein catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in ubiquitin-dependent protein catabolic process	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in Z disc	IEA Inferred from Electronic Annotation more info
located_in Z disc	ISS Inferred from Sequence or Structural Similarity more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in stress fiber	IEA Inferred from Electronic Annotation more info
part_of ubiquitin ligase complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: ankyrin repeat and SOCS box protein 2

Names: ankyrin repeat and SOCS box-containing protein 2a

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_001202429.2 → NP_001189358.1 ankyrin repeat and SOCS box protein 2 isoform 1

See identical proteins and their annotated locations for NP_001189358.1

Status: REVIEWED

Description

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

Source sequence(s)

AB488462

Consensus CDS

CCDS55940.1

UniProtKB/Swiss-Prot

B2RDP9, B4E166, Q96Q27, Q9NSU5, Q9Y567

UniProtKB/TrEMBL

B3KPZ6

Related

ENSP00000451575.1, ENST00000555019.6

Conserved Domains (5) summary

cd03721
Location:591 → 635

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:237 → 268

ANK; ANK repeat [structural motif]

pfam00023
Location:443 → 469

Ank; Ankyrin repeat

pfam12796
Location:109 → 202

Ank_2; Ankyrin repeats (3 copies)

cl39094
Location:198 → 432

Ank_2; Ankyrin repeats (3 copies)
NM_016150.5 → NP_057234.2 ankyrin repeat and SOCS box protein 2 isoform 2

See identical proteins and their annotated locations for NP_057234.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.

Source sequence(s)

AJ251238, BC032354

Consensus CDS

CCDS9915.1

UniProtKB/TrEMBL

B3KPZ6

Related

ENSP00000320675.4, ENST00000315988.8

Conserved Domains (4) summary

cd00204
Location:184 → 309

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

cd03721
Location:543 → 587

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:59 → 109

Ank_4; Ankyrin repeats (many copies)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000014.9 Reference GRCh38.p14 Primary Assembly

Range

93934166..93976570 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047431473.1 → XP_047287429.1 ankyrin repeat and SOCS box protein 2 isoform X4

UniProtKB/TrEMBL

B3KPZ6
XM_017021369.3 → XP_016876858.1 ankyrin repeat and SOCS box protein 2 isoform X2

UniProtKB/TrEMBL

B3KPZ6

Conserved Domains (5) summary

COG0666
Location:65 → 201

ANKYR; Ankyrin repeat [Signal transduction mechanisms]

cd03721
Location:556 → 600

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:202 → 233

ANK; ANK repeat [structural motif]

pfam13637
Location:376 → 426

Ank_4; Ankyrin repeats (many copies)

cl39094
Location:163 → 397

Ank_2; Ankyrin repeats (3 copies)
XM_011536834.4 → XP_011535136.1 ankyrin repeat and SOCS box protein 2 isoform X3

See identical proteins and their annotated locations for XP_011535136.1

UniProtKB/TrEMBL

B3KPZ6

Conserved Domains (4) summary

cd00204
Location:180 → 305

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

cd03721
Location:539 → 583

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 ...

pfam12796
Location:256 → 344

Ank_2; Ankyrin repeats (3 copies)

sd00045
Location:185 → 216

ANK; ANK repeat [structural motif]
XM_005267758.4 → XP_005267815.1 ankyrin repeat and SOCS box protein 2 isoform X1

See identical proteins and their annotated locations for XP_005267815.1

UniProtKB/Swiss-Prot

B2RDP9, B4E166, Q96Q27, Q9NSU5, Q9Y567

UniProtKB/TrEMBL

B3KPZ6

Conserved Domains (5) summary

cd03721
Location:591 → 635

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:237 → 268

ANK; ANK repeat [structural motif]

pfam00023
Location:443 → 469

Ank; Ankyrin repeat

pfam12796
Location:109 → 202

Ank_2; Ankyrin repeats (3 copies)

cl39094
Location:198 → 432

Ank_2; Ankyrin repeats (3 copies)
XM_011536835.4 → XP_011535137.1 ankyrin repeat and SOCS box protein 2 isoform X5

See identical proteins and their annotated locations for XP_011535137.1

UniProtKB/TrEMBL

G3V2Z2

Related

ENSP00000450940.1, ENST00000555507.5

Conserved Domains (4) summary

cd00204
Location:130 → 255

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

pfam12796
Location:206 → 294

Ank_2; Ankyrin repeats (3 copies)

sd00045
Location:135 → 166

ANK; ANK repeat [structural motif]

cl02533
Location:489 → 533

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 ...

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

NT_187601.1 Reference GRCh38.p14 ALT_REF_LOCI_1

Range

1048728..1091132 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054328983.1 → XP_054184958.1 ankyrin repeat and SOCS box protein 2 isoform X4

UniProtKB/TrEMBL

B3KPZ6
XM_054328981.1 → XP_054184956.1 ankyrin repeat and SOCS box protein 2 isoform X2

UniProtKB/TrEMBL

B3KPZ6
XM_054328982.1 → XP_054184957.1 ankyrin repeat and SOCS box protein 2 isoform X3

UniProtKB/TrEMBL

B3KPZ6
XM_054328980.1 → XP_054184955.1 ankyrin repeat and SOCS box protein 2 isoform X1

UniProtKB/Swiss-Prot

B2RDP9, B4E166, Q96Q27, Q9NSU5, Q9Y567

UniProtKB/TrEMBL

B3KPZ6
XM_054328984.1 → XP_054184959.1 ankyrin repeat and SOCS box protein 2 isoform X5

UniProtKB/TrEMBL

G3V2Z2
XM_054328985.1 → XP_054184960.1 ankyrin repeat and SOCS box protein 2 isoform X6

UniProtKB/TrEMBL

G3V2Z2

Alternate T2T-CHM13v2.0

Genomic

NC_060938.1 Alternate T2T-CHM13v2.0

Range

88161475..88203881 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054376214.1 → XP_054232189.1 ankyrin repeat and SOCS box protein 2 isoform X4

UniProtKB/TrEMBL

B3KPZ6
XM_054376212.1 → XP_054232187.1 ankyrin repeat and SOCS box protein 2 isoform X2

UniProtKB/TrEMBL

B3KPZ6
XM_054376213.1 → XP_054232188.1 ankyrin repeat and SOCS box protein 2 isoform X3

UniProtKB/TrEMBL

B3KPZ6
XM_054376211.1 → XP_054232186.1 ankyrin repeat and SOCS box protein 2 isoform X1

UniProtKB/Swiss-Prot

B2RDP9, B4E166, Q96Q27, Q9NSU5, Q9Y567

UniProtKB/TrEMBL

B3KPZ6
XM_054376215.1 → XP_054232190.1 ankyrin repeat and SOCS box protein 2 isoform X5

UniProtKB/TrEMBL

G3V2Z2
XM_054376216.1 → XP_054232191.1 ankyrin repeat and SOCS box protein 2 isoform X7

UniProtKB/TrEMBL

G3V2Z2