TMA16

protein-coding

translation machinery associated 16 homolog

Gene summary

Enables preribosome binding activity and protein-macromolecule adaptor activity. Involved in ribosomal large subunit biogenesis. Located in nucleolus and nucleoplasm. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

C4orf43

MANE transcript

NM_018352.3

Inheritance

—

ClinVar variants

U:24B:3

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.63

Max pathogenic AF

—

Genomic locus

chr4:163,494,442-163,520,539

External References & Databases

Ensembl (ENSG00000198498)

Transcript & Mutation Effects

hg38 • Region Span ~26.1 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 TMA16 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 24

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_018352.3. 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			23 clinvar	2 clinvar	1 clinvar	26
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	24	2	1	27

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 39 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_018352.3	RefSeq	NP_060822.2	7	MANE Select
ENST00000358572.10	Ensembl	ENSP00000351380.5	7	MANE Select
ENST00000508268.1	Ensembl	ENSP00000423375.1	6	Standard
ENST00000508268.2	Ensembl	ENSP00000423375.1	6	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

protein binding

Cellular Component

nucleus
nucleolus

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000358572
Coding exons: 7
Length: 26098
Individuals with no LoFs: 124768
Homozygous LoFs: 0
Heterozygous LoFs: 20
Defined: 124788
p: 0.0000801

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.364	94	104	0.900	0.00000588	1335
Missense (PolyPhen)		20	25.475	0.7851		406
Synonymous	0.670	32	37.2	0.860	0.00000209	332
Loss of Function	1.21	8	12.7	0.632	6.84e-7	153

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00026	0.00026	rare
Latino/Admixed American	0.000058	0.000058	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00038	0.00033	rare
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.000066	0.000062	rare
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.101

Intolerance Scores

RVIS EVS: 0.7
RVIS percentile EVS: 85.42

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Essential (gene trap): E
Indispensability pred.: N
Indispensability score: 0.114