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.

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.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			48	3		51
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	48	3	0

Variants in ASB2

This is a list of pathogenic ClinVar variants found in the ASB2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
14-93934729-C-A		not specified	Uncertain significance (Dec 13, 2022)
14-93934729-C-T		not specified	Uncertain significance (Jul 11, 2023)
14-93934730-G-A		not specified	Uncertain significance (Jan 17, 2024)
14-93934738-C-A		not specified	Uncertain significance (Jun 05, 2023)
14-93934750-C-T		not specified	Uncertain significance (Dec 06, 2021)
14-93934781-G-T		not specified	Uncertain significance (Jan 24, 2024)
14-93937773-T-C		not specified	Uncertain significance (May 20, 2024)
14-93937797-C-T		not specified	Uncertain significance (Jul 30, 2023)
14-93937798-G-C		not specified	Uncertain significance (Dec 22, 2023)
14-93937803-T-A		not specified	Uncertain significance (Mar 14, 2023)
14-93939136-G-A		not specified	Likely benign (Aug 22, 2023)
14-93939136-G-T		not specified	Uncertain significance (Dec 21, 2022)
14-93939148-T-C		not specified	Likely benign (Mar 08, 2024)
14-93939152-A-C		not specified	Uncertain significance (Mar 12, 2024)
14-93939164-G-C		not specified	Uncertain significance (Apr 20, 2024)
14-93939184-G-T		not specified	Uncertain significance (Apr 11, 2023)
14-93939188-C-G		not specified	Uncertain significance (Mar 18, 2024)
14-93939220-C-T		not specified	Uncertain significance (May 28, 2024)
14-93939268-A-G		not specified	Uncertain significance (Jun 10, 2024)
14-93939289-G-T		not specified	Uncertain significance (Jun 05, 2023)
14-93939335-C-T		not specified	Uncertain significance (Jul 11, 2023)
14-93939366-G-C		not specified	Uncertain significance (Jun 21, 2023)
14-93939367-C-T		not specified	Uncertain significance (Sep 22, 2021)
14-93939434-G-T		not specified	Uncertain significance (Nov 22, 2023)
14-93939476-A-G		not specified	Uncertain significance (Oct 12, 2021)

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