FRMD6

protein-coding

FERM domain containing 6, the group of FERM domain containing

Gene summary

Predicted to enable protein sequestering activity. Predicted to be involved in positive regulation of hippo signaling. Predicted to act upstream of or within apical constriction; intracellular protein localization; and regulation of actin filament-based process. Located in cytoplasm and plasma membrane. Implicated in asthma. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

C14orf31

MANE transcript

NM_001267046.2

Inheritance

—

ClinVar variants

U:94B:5

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.28

Max pathogenic AF

—

Genomic locus

chr14:51,489,100-51,730,727

External References & Databases

Ensembl (ENSG00000139926)

Transcript & Mutation Effects

hg38 • Region Span ~241.6 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 FRMD6 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 93

not providedTotal: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001267046.2. 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	2 clinvar	3
missense			92 clinvar	2 clinvar		94
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	94	3	2	99

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 94 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001267046.2	RefSeq	NP_001253975.1	13	MANE Select
ENST00000344768.10	Ensembl	ENSP00000343899.6	13	MANE Select
NM_001042481.3	RefSeq	NP_001035946.1	13	Standard
NM_001267047.1	RefSeq	NP_001253976.1	4	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Hippo signaling pathway - Homo sapiens (human)
Hippo signaling pathway - multiple species - Homo sapiens (human)

Biological Process

apical constriction
actomyosin structure organization
regulation of actin filament-based process
cellular protein localization

Molecular Function

protein binding

Cellular Component

cytoplasm
cytoskeleton
plasma membrane
apical junction complex

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000344768
Coding exons: 13
Length: 241628
Individuals with no LoFs: 125732
Homozygous LoFs: 0
Heterozygous LoFs: 16
Defined: 125748
p: 0.0000636

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.265	345	359	0.961	0.0000207	4133
Missense (PolyPhen)		105	125.45	0.837		1457
Synonymous	0.382	128	134	0.958	0.00000742	1131
Loss of Function	3.74	9	31.7	0.284	0.00000158	393

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.000087	0.000087	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000054	0.000054	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.000089	0.000088	rare
South Asian	0.000065	0.000065	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.155

Intolerance Scores

LoFtool: 0.161
RVIS EVS: -0.91
RVIS percentile EVS: 10.03

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.710

Gene Damage Prediction

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