ABTB2

protein-coding

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

Gene summary

Predicted to enable protein heterodimerization activity. Predicted to act upstream of or within cellular response to toxic substance. Located in nucleoplasm. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_145804.3

Inheritance

—

ClinVar variants

U:181B:2

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.29

Max pathogenic AF

—

Genomic locus

chr11:34,150,987-34,358,010

External References & Databases

Ensembl (ENSG00000166016)

Transcript & Mutation Effects

hg38 • Region Span ~207.0 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to ABTB2 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 171

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_145804.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			3 clinvar			3
missense			173 clinvar	2 clinvar		175
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			4 clinvar			4
Total	0	0	181	2	0	183

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 5 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_145804.3	RefSeq	NP_665803.2	17	MANE Select
ENST00000435224.3	Ensembl	ENSP00000410157.2	17	MANE Select
ENST00000868012.1	Ensembl	ENSP00000538071.1	16	Standard
ENST00000868012.2	Ensembl	ENSP00000538071.1	16	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

cellular response to toxic substance

Molecular Function

molecular_function
protein heterodimerization activity

Cellular Component

cellular_component
nucleus
nucleoplasm

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000435224
Coding exons: 17
Length: 207021
Individuals with no LoFs: 125724
Homozygous LoFs: 0
Heterozygous LoFs: 24
Defined: 125748
p: 0.0000954

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.23	516	601	0.859	0.0000357	6605
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00019	0.00018	rare
Latino/Admixed American	0.000059	0.000058	rare
Ashkenazi Jewish	0.000099	0.000099	rare
East Asian	0.00011	0.00011	rare
Finnish	0.000099	0.000092	rare
European (Non-Finnish)	0.000062	0.000062	rare
South Asian	0.00017	0.00016	rare
Other	0.00035	0.00033	rare

dbNSFP Gene Annotations

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

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Indispensability pred.: E
Indispensability score: 0.877

Gene Damage Prediction

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