BTBD17

protein-coding

BTB domain containing 17, the group of BTB domain containing

Gene summary

Predicted to be involved in negative regulation of viral genome replication and response to virus. Predicted to be located in cytoplasm and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_001080466.2

Inheritance

—

ClinVar variants

U:63B:82

Top phenotype

EBV-positive nodal T- and NK-cell lymphoma

gnomAD constraint

pLI —, LoF o/e 0.37

Max pathogenic AF

—

Genomic locus

chr17:74,356,416-74,361,868

External References & Databases

Ensembl (ENSG00000204347)

Transcript & Mutation Effects

hg38 • Region Span ~5.5 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 BTBD17 variants in ClinVar

3 Conditions Cataloged

not providedTotal: 77

not specifiedTotal: 66

EBV-positive nodal T- and NK-cell lymphomaTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001080466.2. 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			1 clinvar	77 clinvar		78
missense			62 clinvar	5 clinvar		67
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	63	82	0	145

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_001080466.2	RefSeq	NP_001073935.1	3	MANE Select
ENST00000375366.4	Ensembl	ENSP00000364515.3	3	MANE Select
ENST00001138001.1	Ensembl	ENSP00000810532.1	3	Standard
XM_011524791.3	RefSeq	XP_011523093.1	3	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

response to virus
negative regulation of viral genome replication

Cellular Component

extracellular region
cytoplasm
plasma membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000375366
Coding exons: 3
Length: 5531
Individuals with no LoFs: 125673
Homozygous LoFs: 0
Heterozygous LoFs: 8
Defined: 125681
p: 0.0000318

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	2.37	164	274	0.598	0.0000184	2941
Missense (PolyPhen)		36	81.141	0.44367		947
Synonymous	2.30	101	135	0.748	0.00000983	1036
Loss of Function	2.13	5	13.4	0.372	5.82e-7	137

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00013	0.00012	rare
Latino/Admixed American	0.000058	0.000058	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000059	0.000054	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.000018	0.000018	rare
South Asian	0.000036	0.000033	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.454

Gene Damage Prediction

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