BTBD6

protein-coding

BTB domain containing 6, the group of BTB domain containing

Gene summary

Predicted to be involved in neurogenesis. Predicted to be located in cytoplasm. Predicted to be active in cytosol. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_001387567.1

Inheritance

—

ClinVar variants

U:92B:11

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.64

Max pathogenic AF

—

Genomic locus

chr14:105,248,533-105,251,093

External References & Databases

Ensembl (ENSG00000184887)

Transcript & Mutation Effects

hg38 • Region Span ~2.6 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 BTBD6 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 90

not providedTotal: 10

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001387567.1. 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			2 clinvar	5 clinvar	1 clinvar	8
missense			87 clinvar	5 clinvar		92
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	92	10	1	103

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_001387567.1	RefSeq	NP_001374496.1	4	MANE Select
ENST00000392554.8	Ensembl	ENSP00000376337.4	4	MANE Select
NM_033271.3	RefSeq	NP_150374.2	4	Standard
ENST00000463376.6	Ensembl	ENSP00000418150.3	3	Standard

Model Organisms & Knockout Phenotypes

Observed phenotypic effects in mouse and zebrafish models

Gene / Model	Organism	Observed Phenotype
btbd6a	Danio rerio	Structure: primary neuron Quality: decreased amount abnormal

Gene / Model

Organism

Observed Phenotype

btbd6a

Danio rerio

Structure: primary neuron

Quality: decreased amount

abnormal

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Post-translational protein modification
Metabolism of proteins
Immune System
Adaptive Immune System
Antigen processing: Ubiquitination & Proteasome degradation

Biological Process

neurogenesis
post-translational protein modification

Cellular Component

cytosol

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000392554
Coding exons: 4
Length: 2604
Individuals with no LoFs: 125676
Homozygous LoFs: 0
Heterozygous LoFs: 67
Defined: 125743
p: 0.000266

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.822	223	260	0.857	0.0000168	3120
Missense (PolyPhen)		82	102.96	0.79646		1245
Synonymous	-2.27	150	119	1.27	0.00000871	1005
Loss of Function	1.37	11	17.1	0.642	0.00000110	179

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00012	0.00012	rare
Latino/Admixed American	0.00017	0.00017	rare
Ashkenazi Jewish	0.00070	0.00069	rare
East Asian	0.00093	0.00092	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00027	0.00027	rare
South Asian	0.000065	0.000065	rare
Other	0.00033	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Adapter protein for the cul3 E3 ubiquitin-protein ligase complex (By similarity). Involved in late neuronal development and muscle formation (By similarity). {ECO:0000250|UniProtKB:A9JRD8, ECO:0000250|UniProtKB:Q2LE78}.;

Recessive Scores

pRec: 0.110

Intolerance Scores

LoFtool: 0.584
RVIS EVS: -0.89
RVIS percentile EVS: 10.37

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Indispensability pred.: N
Indispensability score: 0.0866

Gene Damage Prediction

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