PABPC4L

protein-coding

poly(A) binding protein cytoplasmic 4 like, the group of RNA binding motif containing

Gene summary

Predicted to enable mRNA 3'-UTR binding activity; poly(A) binding activity; and poly(U) RNA binding activity. Predicted to be involved in positive regulation of gene expression. Predicted to be part of ribonucleoprotein complex. Predicted to be active in cytoplasmic stress granule; cytosol; and nucleus. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_001114734.2

Inheritance

—

ClinVar variants

U:49B:2

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.56

Max pathogenic AF

—

Genomic locus

chr4:134,196,333-134,201,789

External References & Databases

Ensembl (ENSG00000254535)

Transcript & Mutation Effects

hg38 • Region Span ~5.5 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 PABPC4L variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 50

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001114734.2. 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			48 clinvar	2 clinvar		50
nonsense						0
start loss			1 clinvar			1
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	49	2	0	51

Loading ClinVar variants...

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_001114734.2	RefSeq	NP_001108206.3	1	MANE Select
ENST00000421491.4	Ensembl	ENSP00000463233.1	1	MANE Select
NM_001363585.1	RefSeq	NP_001350514.1	1	Standard
ENST00000884201.1	Ensembl	ENSP00000554260.1	1	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

RNA degradation - Homo sapiens (human)
mRNA surveillance pathway - Homo sapiens (human)
RNA transport - Homo sapiens (human)

Molecular Function

RNA binding
mRNA 3'-UTR binding
poly(A) binding
poly(U) RNA binding

Cellular Component

nucleus
cytoplasm
cytosol
cytoplasmic stress granule
ribonucleoprotein complex

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000529122
Coding exons: 1
Length: 5416
Individuals with no LoFs: 108852
Homozygous LoFs: 0
Heterozygous LoFs: 2
Defined: 108854
p: 0.00000919

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.47	175	239	0.732	0.0000127	2834
Missense (PolyPhen)		72	98.407	0.73165		1189
Synonymous	1.70	70	90.6	0.773	0.00000475	808
Loss of Function	1.45	7	12.6	0.558	8.96e-7	139

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000079	0.000078	rare
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000062	0.000062	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0	0.0	absent
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May bind RNA. {ECO:0000305}.;

Essentials

Essential (CRISPR2): N

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium