FNTB

protein-coding

farnesyltransferase, CAAX box, beta

Gene summary

Enables acetyltransferase activator activity; enzyme binding activity; and zinc ion binding activity. Contributes to protein farnesyltransferase activity. Involved in protein farnesylation and regulation of microtubule-based movement. Part of microtubule associated complex and protein farnesyltransferase complex. Implicated in anxiety disorder. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_002028.4

Inheritance

—

ClinVar variants

U:13B:13

Top phenotype

Pheochromocytoma

gnomAD constraint

pLI —, LoF o/e 0.27

Max pathogenic AF

—

Genomic locus

chr14:64,986,895-65,062,652

External References & Databases

Ensembl (ENSG00000257365)

Transcript & Mutation Effects

hg38 • Region Span ~75.8 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 FNTB variants in ClinVar

5 Conditions Cataloged

not specifiedTotal: 17

not providedTotal: 16

PheochromocytomaTotal: 2

MAX-related disorderTotal: 1

Hereditary cancer-predisposing syndromeTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_002028.4. 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				12 clinvar	1 clinvar	13
missense			13 clinvar			13
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	13	12	1	26

Highest pathogenic variant AF is 0.000009306724

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 27 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_002028.4	RefSeq	NP_002019.1	12	MANE Select
ENST00000246166.3	Ensembl	ENSP00000246166.2	12	MANE Select
ENST00000880245.1	Ensembl	ENSP00000550304.1	13	Standard
ENST00000880245.2	Ensembl	ENSP00000550304.1	13	Standard

Model Organisms & Knockout Phenotypes

Observed phenotypic effects in mouse and zebrafish models

Gene / Model	Organism	Observed Phenotype
fntb	Danio rerio	Structure: whole organism Quality: decreased size abnormal

Gene / Model

Organism

Observed Phenotype

fntb

Danio rerio

Structure: whole organism

Quality: decreased size

abnormal

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Terpenoid backbone biosynthesis - Homo sapiens (human)
Signaling by GPCR
Signal Transduction
G alpha (i) signalling events
Inactivation, recovery and regulation of the phototransduction cascade

Biological Process

negative regulation of cell population proliferation
response to inorganic substance
response to organic cyclic compound
protein prenylation
protein farnesylation

Molecular Function

farnesyltranstransferase activity
protein farnesyltransferase activity
protein binding
drug binding
zinc ion binding

Cellular Component

cytosol
microtubule associated complex
protein farnesyltransferase complex

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000246166
Coding exons: 12
Length: 148166
Individuals with no LoFs: 125738
Homozygous LoFs: 0
Heterozygous LoFs: 9
Defined: 125747
p: 0.0000358

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.38	190	252	0.755	0.0000138	2844
Missense (PolyPhen)		30	88.484	0.33904		1022
Synonymous	-0.659	114	105	1.08	0.00000638	848
Loss of Function	3.43	7	25.8	0.271	0.00000125	293

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.000058	0.000058	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000054	0.000054	rare
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.000044	0.000044	rare
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Essential subunit of the farnesyltransferase complex. Catalyzes the transfer of a farnesyl moiety from farnesyl diphosphate to a cysteine at the fourth position from the C- terminus of several proteins having the C-terminal sequence Cys- aliphatic-aliphatic-X. {ECO:0000269|PubMed:12036349, ECO:0000269|PubMed:12825937, ECO:0000269|PubMed:16893176, ECO:0000269|PubMed:19246009, ECO:0000269|PubMed:8494894}.;

Recessive Scores

pRec: 0.114

Intolerance Scores

RVIS EVS: -0.43
RVIS percentile EVS: 25.37

Essentials

Essential (CRISPR): E
Essential (CRISPR2): E
Essential (gene trap): E
Indispensability pred.: E
Indispensability score: 0.731

Gene Damage Prediction

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