FUNDC2

protein-coding

FUN14 domain containing 2

Gene summary

Enables phosphatidylinositol-3,4,5-trisphosphate binding activity. Involved in intracellular triglyceride homeostasis. Located in mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_023934.4

Inheritance

—

ClinVar variants

P:2U:67B:1

Top phenotype

Hereditary factor VIII deficiency disease

gnomAD constraint

pLI —, LoF o/e 0.39

Max pathogenic AF

—

Genomic locus

chrX:155,025,980-155,060,304

External References & Databases

Ensembl (ENSG00000165775)

Transcript & Mutation Effects

hg38 • Region Span ~34.3 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 FUNDC2 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 17

Hereditary factor VIII deficiency diseaseTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_023934.4. 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			6 clinvar			6
missense			40 clinvar	1 clinvar		41
nonsense			2 clinvar			2
start loss	1 clinvar					1
frameshift						0
splice donor/acceptor (+/-2bp)	1 clinvar		19 clinvar			20
Total	2	0	67	1	0	70

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 14 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_023934.4	RefSeq	NP_076423.2	5	MANE Select
ENST00000369498.8	Ensembl	ENSP00000358510.3	5	MANE Select
ENST00000456179.1	Ensembl	ENSP00000395488.1	4	Standard
ENST00000856523.1	Ensembl	ENSP00000526582.1	5	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

autophagy of mitochondrion

Cellular Component

nucleus
mitochondrion
integral component of mitochondrial outer membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000369498
Coding exons: 5
Length: 34324
Individuals with no LoFs: 125727
Homozygous LoFs: 2
Heterozygous LoFs: 2
Defined: 125731
p: 0.0000159

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.363	62	70.6	0.878	0.00000523	1209
Missense (PolyPhen)		8	21.121	0.37877		396
Synonymous	0.773	22	27.1	0.811	0.00000200	379
Loss of Function	1.55	3	7.61	0.394	5.64e-7	121

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00023	0.00018	rare
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.000012	0.0000088	rare
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.0660

Intolerance Scores

LoFtool: 0.240
RVIS EVS: -0.03
RVIS percentile EVS: 51.04

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.887

Gene Damage Prediction

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