ASB2

ankyrin repeat and SOCS box containing 2, the group of Ankyrin repeat domain containing|MicroRNA protein coding host genes

Basic information

Region (hg38): 14:93934166-93976739

Links

ENSG00000100628

∙ NCBI:51676 ∙ OMIM:605759 ∙ HGNC:16012 ∙ Uniprot:Q96Q27 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ASB2 gene.

not_specified (110 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ASB2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001202429.2. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			106 clinvar	4 clinvar		110
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	106	4	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ASB2	protein_coding	protein_coding	ENST00000555019	9	42639

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
6.77e-15	0.0588	125561	0	187	125748	0.000744

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.391	391	413	0.946	0.0000257	4106
Missense in Polyphen		128	153.17	0.83566		1497
Synonymous	1.08	177	196	0.902	0.0000142	1299
Loss of Function	0.654	24	27.7	0.866	0.00000160	283

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00307	0.00307
Ashkenazi Jewish	0.00	0.00
East Asian	0.000328	0.000326
Finnish	0.000999	0.000971
European (Non-Finnish)	0.000551	0.000536
Middle Eastern	0.000328	0.000326
South Asian	0.000328	0.000327
Other	0.00147	0.00147

dbNSFP

Source: dbNSFP

Function: FUNCTION: Substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. {ECO:0000269|PubMed:15590664, ECO:0000269|PubMed:16325183}.; FUNCTION: Isoform 2: Involved in myogenic differentiation and targets filamin FLNB for proteasomal degradation but not filamin FLNA. {ECO:0000269|PubMed:19300455}.;
Pathway: Post-translational protein modification;Metabolism of proteins;Immune System;Adaptive Immune System;Antigen processing: Ubiquitination & Proteasome degradation;Class I MHC mediated antigen processing & presentation;Neddylation (Consensus)

Recessive Scores

pRec: 0.135

Intolerance Scores

loftool: 0.687
rvis_EVS: -0.39
rvis_percentile_EVS: 27.03

Haploinsufficiency Scores

pHI: 0.110
hipred: Y
hipred_score: 0.610
ghis: 0.537

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.707

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

Gene name: Asb2
Phenotype: immune system phenotype;

Zebrafish Information Network

Gene name: asb2b
Affected structure: cardiac muscle cell
Phenotype tag: abnormal
Phenotype quality: shape

Gene ontology

Biological process: signal transduction;protein ubiquitination;intracellular signal transduction;skeletal muscle cell differentiation;post-translational protein modification
Cellular component: ubiquitin ligase complex;cytosol
Molecular function: protein binding;ubiquitin protein ligase activity