FAM234A

protein-coding

family with sequence similarity 234 member A

Gene summary

Located in cell surface. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

C16orf9
ITFG3

MANE transcript

NM_032039.4

Inheritance

—

ClinVar variants

U:107B:23

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.87

Max pathogenic AF

—

Genomic locus

chr16:234,521-272,183

External References & Databases

Ensembl (ENSG00000167930)

Transcript & Mutation Effects

hg38 • Region Span ~37.7 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 FAM234A variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 109

not providedTotal: 8

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_032039.4. 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			5 clinvar	5 clinvar	2 clinvar	12
missense			98 clinvar	14 clinvar	2 clinvar	114
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			3 clinvar			3
Total	0	0	107	19	4	130

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 221 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_032039.4	RefSeq	NP_114428.1	11	MANE Select
ENST00000399932.8	Ensembl	ENSP00000382814.3	11	MANE Select
NM_001284497.2	RefSeq	NP_001271426.1	11	Standard
ENST00000301678.7	Ensembl	ENSP00000301678.3	11	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

biological_process

Molecular Function

molecular_function

Cellular Component

cell surface
integral component of membrane
extracellular exosome

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000399932
Coding exons: 11
Length: 35398
Individuals with no LoFs: 124645
Homozygous LoFs: 0
Heterozygous LoFs: 179
Defined: 124824
p: 0.000717

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.734	400	361	1.11	0.0000242	3564
Missense (PolyPhen)		114	111.36	1.0237		1220
Synonymous	-0.729	174	162	1.07	0.0000123	1163
Loss of Function	0.587	20	23.0	0.868	0.00000124	245

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00019	0.00019	rare
Latino/Admixed American	0.00084	0.00084	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00039	0.00039	rare
Finnish	0.00019	0.00019	rare
European (Non-Finnish)	0.0010	0.0010	notable
South Asian	0.00023	0.00023	rare
Other	0.0018	0.0018	notable

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.113

Intolerance Scores

RVIS EVS: -0.57
RVIS percentile EVS: 18.96

Essentials

Essential (gene trap): N