BTBD8

protein-coding

BTB domain containing 8, the group of BTB domain containing

Gene summary

Predicted to be involved in synaptic vesicle budding from endosome and synaptic vesicle endocytosis. Located in nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

KIAA1107

MANE transcript

NM_001376131.1

Inheritance

—

ClinVar variants

U:34B:5

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.7

Max pathogenic AF

—

Genomic locus

chr1:92,080,305-92,184,725

External References & Databases

Ensembl (ENSG00000189195)

Transcript & Mutation Effects

hg38 • Region Span ~104.4 kb

Loading mutation effect viewer...

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 BTBD8 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 31

not providedTotal: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001376131.1. 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	1 clinvar	4
missense			33 clinvar		1 clinvar	34
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	34	3	2	39

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 15 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001376131.1	RefSeq	NP_001363060.1	18	MANE Select
ENST00000636805.2	Ensembl	ENSP00000490161.1	18	MANE Select
NM_015237.4	RefSeq	NP_056052.3	7	Standard
ENST00000342818.4	Ensembl	ENSP00000343686.3	9	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Cellular Component

nucleoplasm

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000342818
Coding exons: 9
Length: 67532
Individuals with no LoFs: 125708
Homozygous LoFs: 0
Heterozygous LoFs: 36
Defined: 125744
p: 0.000143

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.440	174	191	0.910	0.00000866	2502
Missense (PolyPhen)		48	60.591	0.7922		841
Synonymous	1.27	52	65.1	0.799	0.00000313	675
Loss of Function	1.16	12	17.2	0.699	7.16e-7	250

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00040	0.00037	rare
Latino/Admixed American	0.00018	0.00017	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00039	0.00038	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00011	0.00011	rare
South Asian	0.00018	0.00016	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.0118

Intolerance Scores

LoFtool: 0.714
RVIS EVS: 0.64
RVIS percentile EVS: 83.9

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.462

Gene Damage Prediction

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