PNRC1

protein-coding

proline rich nuclear receptor coactivator 1

Gene summary

Predicted to be involved in DNA-templated transcription and mRNA metabolic process. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

PROL2

MANE transcript

NM_006813.3

Inheritance

—

ClinVar variants

U:60

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0

Max pathogenic AF

—

Genomic locus

chr6:89,080,751-89,085,160

External References & Databases

Ensembl (ENSG00000146278)

Transcript & Mutation Effects

hg38 • Region Span ~4.4 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 PNRC1 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 57

not providedTotal: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_006813.3. 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			57 clinvar			57
nonsense						0
start loss						0
frameshift			2 clinvar			2
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	60	0	0	60

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 12 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_006813.3	RefSeq	NP_006804.1	2	MANE Select
ENST00000336032.4	Ensembl	ENSP00000336931.3	2	MANE Select
ENST00000354922.3	Ensembl	ENSP00000347000.3	1	Standard
ENST00000354922.4	Ensembl	ENSP00000347000.3	1	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

AndrogenReceptor

Molecular Function

protein binding

Cellular Component

nucleus

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000336032
Coding exons: 2
Length: 4410
Individuals with no LoFs: 125732
Homozygous LoFs: 0
Heterozygous LoFs: 3
Defined: 125735
p: 0.0000119

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.734	136	162	0.838	0.00000741	2053
Missense (PolyPhen)		41	55.302	0.74138		697
Synonymous	-0.508	76	70.6	1.08	0.00000341	707
Loss of Function	2.57	0	7.70	0.00	3.28e-7	109

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0.000099	0.000099	rare
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.000018	0.000018	rare
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Nuclear receptor coactivator. May play a role in signal transduction. {ECO:0000269|PubMed:10894149}.;

Recessive Scores

pRec: 0.155

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.592

Gene Damage Prediction

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