TENT4B

protein-coding

terminal nucleotidyltransferase 4B, the group of Terminal nucleotidyltransferases|Non-canonical poly(A) polymerases

Gene summary

Enables guanylyltransferase activity; poly(A) RNA polymerase activity; and telomerase RNA binding activity. Involved in several processes, including RNA metabolic process; negative regulation of telomere maintenance via telomerase; and regulation of mRNA stability. Located in cytosol and nucleolus. Part of TRAMP complex. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

PAPD5

MANE transcript

NM_001365324.3

Inheritance

—

ClinVar variants

U:84B:7

Top phenotype

TENT4B-related disorder

gnomAD constraint

pLI —, LoF o/e 0.07

Max pathogenic AF

—

Genomic locus

chr16:50,152,911-50,235,310

External References & Databases

Ensembl (ENSG00000121274)

Transcript & Mutation Effects

hg38 • Region Span ~82.4 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 TENT4B variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 81

TENT4B-related disorderTotal: 2

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001365324.3. 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			2 clinvar	1 clinvar		3
missense			82 clinvar	6 clinvar		88
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	84	7	0	91

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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_001365324.3	RefSeq	NP_001352253.1	12	MANE Select
ENST00000561678.7	Ensembl	ENSP00000455837.3	12	MANE Select
NM_001040284.3	RefSeq	NP_001035374.2	13	Standard
NM_001040285.3	RefSeq	NP_001035375.2	13	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

rRNA processing
mRNA polyadenylation
cell cycle
miRNA catabolic process
negative regulation of telomere maintenance via telomerase

Molecular Function

DNA binding
RNA binding
DNA-directed DNA polymerase activity
polynucleotide adenylyltransferase activity
protein binding

Cellular Component

nucleolus
cytoplasm
TRAMP complex

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000436909
Coding exons: 13
Length: 82393
Individuals with no LoFs: 124629
Homozygous LoFs: 0
Heterozygous LoFs: 6
Defined: 124635
p: 0.0000241

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	3.55	154	338	0.456	0.0000170	4511
Missense (PolyPhen)		12	78.284	0.15329		1045
Synonymous	0.684	127	137	0.926	0.00000750	1378
Loss of Function	4.77	2	30.3	0.0660	0.00000156	396

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00020	0.00019	rare
Latino/Admixed American	0.000029	0.000029	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000056	0.000056	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.0000089	0.0000088	rare
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Catalytic subunit of a TRAMP-like complex which has a poly(A) RNA polymerase activity and is involved in a post- transcriptional quality control mechanism. Polyadenylation with short oligo(A) tails is required for the degradative activity of the exosome on several of its nuclear RNA substrates. Doesn't need a cofactor for polyadenylation activity (in vitro) (PubMed:21788334, PubMed:21855801). Required for cytoplasmic polyadenylation of mRNAs involved in carbohydrate metabolism, including the glucose transporter SLC2A1/GLUT1 (PubMed:28383716). Plays a role in replication-dependent histone mRNA degradation, probably through terminal uridylation of mature histone mRNAs. May play a role in sister chromatid cohesion (PubMed:18172165). Mediates 3' adenylation of the microRNA MIR21 followed by its 3'- to-5' trimming by the exoribonuclease PARN leading to degradation (PubMed:25049417). Mediates 3' adenylation of H/ACA box snoRNAs (small nucleolar RNAs) followed by its 3'-to-5' trimming by the exoribonuclease PARN which enhances snoRNA stability and maturation (PubMed:22442037). {ECO:0000269|PubMed:18172165, ECO:0000269|PubMed:21788334, ECO:0000269|PubMed:21855801, ECO:0000269|PubMed:22442037, ECO:0000269|PubMed:25049417, ECO:0000269|PubMed:28383716}.;

Recessive Scores

pRec: 0.105

Intolerance Scores

RVIS EVS: -0.18
RVIS percentile EVS: 39.95

Essentials

Essential (gene trap): N