LIN52

protein-coding

lin-52 DREAM MuvB core complex component

Gene summary

Predicted to be involved in negative regulation of DNA-templated transcription and positive regulation of transcription by RNA polymerase II. Predicted to be located in nucleoplasm. Predicted to be part of DRM complex. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

C14orf46

MANE transcript

NM_001024674.3

Inheritance

—

ClinVar variants

U:15

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0

Max pathogenic AF

—

Genomic locus

chr14:74,084,956-74,201,493

External References & Databases

Ensembl (ENSG00000205659)

Transcript & Mutation Effects

hg38 • Region Span ~116.5 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 LIN52 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 15

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001024674.3. 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			15 clinvar			15
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	15	0	0	15

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 43 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001024674.3	RefSeq	NP_001019845.2	6	MANE Select
ENST00000555028.7	Ensembl	ENSP00000451812.2	6	MANE Select
NM_001372005.1	RefSeq	NP_001358934.1	6	Standard
NM_001372006.1	RefSeq	NP_001358935.1	6	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Cellular senescence - Homo sapiens (human)
Polo-like kinase mediated events
Transcription of E2F targets under negative control by DREAM complex
G0 and Early G1
Mitotic G1-G1/S phases

Biological Process

transcription, DNA-templated
regulation of cell cycle

Cellular Component

nucleoplasm
DRM complex

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000555028
Coding exons: 6
Length: 116438
Individuals with no LoFs: 125695
Homozygous LoFs: 0
Heterozygous LoFs: 1
Defined: 125696
p: 0.00000398

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.05	39	62.4	0.625	0.00000328	752
Missense (PolyPhen)		6	13.766	0.43587		195
Synonymous	1.51	12	20.7	0.579	0.00000105	213
Loss of Function	2.63	0	8.04	0.00	4.07e-7	91

Population LoF Frequency

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

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.130

Intolerance Scores

RVIS EVS: 0.15
RVIS percentile EVS: 64.11

Essentials

Essential (CRISPR): N
Essential (CRISPR2): E
Essential (gene trap): E
Indispensability pred.: E
Indispensability score: 0.978

Gene Damage Prediction

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