ABTB2

ankyrin repeat and BTB domain containing 2, the group of BTB domain containing|Ankyrin repeat domain containing

Basic information

Region (hg38): 11:34150986-34358010

Links

ENSG00000166016 ∙ NCBI:25841 ∙ ∙ HGNC:23842 ∙ Uniprot:Q8N961 ∙ 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 ABTB2 gene.

• Inborn genetic diseases (57 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ABTB2 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			55	2		57
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	55	2	0

Variants in ABTB2

This is a list of pathogenic ClinVar variants found in the ABTB2 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-34152404-T-C		not specified	Likely benign (Aug 02, 2022)
11-34152443-G-C		not specified	Uncertain significance (Dec 02, 2022)
11-34152482-G-A		not specified	Uncertain significance (Oct 13, 2023)
11-34152496-T-G		not specified	Uncertain significance (Jul 27, 2023)
11-34152499-C-T		not specified	Uncertain significance (Oct 26, 2021)
11-34152509-C-T		not specified	Uncertain significance (Jan 02, 2024)
11-34152549-C-G		not specified	Uncertain significance (Nov 18, 2022)
11-34154288-C-T		not specified	Uncertain significance (Dec 14, 2023)
11-34154298-C-T		not specified	Uncertain significance (Oct 26, 2021)
11-34154318-A-G		not specified	Uncertain significance (Jan 03, 2024)
11-34159328-C-T		not specified	Uncertain significance (Dec 03, 2021)
11-34159922-C-T		not specified	Uncertain significance (Oct 26, 2021)
11-34159967-A-G		not specified	Uncertain significance (Aug 21, 2023)
11-34160259-G-A		not specified	Uncertain significance (Apr 28, 2023)
11-34160271-C-T		not specified	Uncertain significance (Jun 11, 2021)
11-34160272-G-A		not specified	Uncertain significance (Dec 03, 2021)
11-34160289-G-C		not specified	Uncertain significance (Jun 07, 2023)
11-34160301-C-G		not specified	Uncertain significance (Jan 27, 2022)
11-34160344-C-T		not specified	Uncertain significance (Feb 03, 2022)
11-34160910-G-T		not specified	Uncertain significance (Feb 17, 2022)
11-34160914-T-G		not specified	Uncertain significance (Jun 24, 2022)
11-34161052-C-T		not specified	Uncertain significance (Nov 17, 2022)
11-34161078-A-G		not specified	Uncertain significance (Sep 26, 2022)
11-34162581-G-C		not specified	Uncertain significance (Apr 13, 2022)
11-34162606-C-T		not specified	Uncertain significance (Oct 04, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ABTB2	protein_coding	protein_coding	ENST00000435224	17	207021

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00466	0.995	125724	0	24	125748	0.0000954

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.23	516	601	0.859	0.0000357	6605
Missense in Polyphen		145	187.05	0.77519		2149
Synonymous	0.945	247	267	0.926	0.0000172	2071
Loss of Function	4.38	13	44.5	0.292	0.00000224	483

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000249	0.000243
Ashkenazi Jewish	0.0000994	0.0000992
East Asian	0.000109	0.000109
Finnish	0.0000990	0.0000924
European (Non-Finnish)	0.0000621	0.0000615
Middle Eastern	0.000109	0.000109
South Asian	0.000169	0.000163
Other	0.000347	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in the initiation of hepatocyte growth. {ECO:0000250}.

Recessive Scores

• pRec: 0.107

Intolerance Scores

• loftool: 0.393
• rvis_EVS: -1.01
• rvis_percentile_EVS: 8.17

Haploinsufficiency Scores

• pHI: 0.421
• hipred: Y
• hipred_score: 0.554
• ghis: 0.532

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.877

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Abtb2
• Phenotype: behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); hematopoietic system phenotype; immune system phenotype

Gene ontology

• Biological process: cellular response to toxic substance
• Cellular component: cellular_component;nucleus;nucleoplasm
• Molecular function: molecular_function;protein heterodimerization activity