FAM241A

protein-coding

family with sequence similarity 241 member A

Gene summary

Located in Golgi apparatus. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

C4orf32

MANE transcript

NM_152400.3

Inheritance

—

ClinVar variants

U:4

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0

Max pathogenic AF

—

Genomic locus

chr4:112,145,454-112,195,256

External References & Databases

Ensembl (ENSG00000174749)

Transcript & Mutation Effects

hg38 • Region Span ~49.8 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 FAM241A variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_152400.3. 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						0
missense			4 clinvar			4
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	4	0	0	4

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 7 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_152400.3	RefSeq	NP_689613.2	2	MANE Select
ENST00000309733.6	Ensembl	ENSP00000310182.4	2	MANE Select
ENST00001117028.1	Ensembl	ENSP00000786833.1	2	Standard
ENST00001117029.1	Ensembl	ENSP00000786834.1	2	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Cellular Component

Golgi apparatus
integral component of membrane
intracellular membrane-bounded organelle

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000309733
Coding exons: 2
Length: 49860
Individuals with no LoFs: 125716
Homozygous LoFs: 0
Heterozygous LoFs: 16
Defined: 125732
p: 0.0000636

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.412	38	45.9	0.829	0.00000215	836
Missense (PolyPhen)		17	25.286	0.67231		350
Synonymous	-0.567	19	16.1	1.18	8.03e-7	272
Loss of Function	1.73	0	3.49	0.00	2.47e-7	52

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000062	0.000062	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)	0.00011	0.00011	rare
South Asian	0	0.0	absent
Other	0.00033	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.0784

Essentials

Essential (gene trap): N