TENT5B

protein-coding

terminal nucleotidyltransferase 5B, the group of Terminal nucleotidyltransferases

Gene summary

Enables poly(A) RNA polymerase activity. Involved in several processes, including negative regulation of apoptotic process; negative regulation of cell population proliferation; and positive regulation of translation. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

FAM46B

MANE transcript

NM_052943.4

Inheritance

—

ClinVar variants

U:84B:5

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.28

Max pathogenic AF

—

Genomic locus

chr1:27,005,020-27,012,850

External References & Databases

Ensembl (ENSG00000158246)

Transcript & Mutation Effects

hg38 • Region Span ~7.8 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 TENT5B variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 86

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_052943.4. 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			1 clinvar	1 clinvar		2
missense			83 clinvar	4 clinvar		87
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	84	5	0	89

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 3 of 3 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_052943.4	RefSeq	NP_443175.2	2	MANE Select
ENST00000289166.6	Ensembl	ENSP00000289166.5	2	MANE Select
ENST00001144658.1	Ensembl	ENSP00000804725.1	2	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

protein binding
RNA adenylyltransferase activity

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000289166
Coding exons: 2
Length: 7817
Individuals with no LoFs: 125717
Homozygous LoFs: 0
Heterozygous LoFs: 24
Defined: 125741
p: 0.0000954

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.575	254	281	0.904	0.0000194	2682
Missense (PolyPhen)		100	127.57	0.78391		1306
Synonymous	0.182	125	128	0.980	0.00000846	979
Loss of Function	2.20	3	10.8	0.278	5.50e-7	109

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.000088	0.000087	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000057	0.000054	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00016	0.00015	rare
South Asian	0.000065	0.000065	rare
Other	0.00017	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Probable nucleotidyltransferase that may act as a non- canonical poly(A) RNA polymerase. {ECO:0000305|PubMed:27060136}.;

Recessive Scores

pRec: 0.108

Intolerance Scores

RVIS EVS: -0.47
RVIS percentile EVS: 23.43

Essentials

Essential (gene trap): N