POC5

protein-coding

POC5 centriolar protein

Gene summary

Predicted to enable identical protein binding activity. Involved in centriole elongation and negative regulation of centriole elongation. Located in centriole and centrosome. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

C5orf37

MANE transcript

NM_001099271.2

Inheritance

AR, AD

ClinVar variants

P:2U:242B:95

Top phenotype

ciliopathy

gnomAD constraint

pLI —, LoF o/e 0.59

Max pathogenic AF

—

Genomic locus

chr5:75,674,124-75,717,448

External References & Databases

Ensembl (ENSG00000152359)

Transcript & Mutation Effects

hg38 • Region Span ~43.3 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

retinitis pigmentosaLIMITED

Inheritance Pattern: AR

Disease ID:MONDO:0019200

Submitter: Franklin by Genoox

Exome sequencing revealed a homozygous nonsense mutation [c.304_305delGA (p. D102*)] in POC5, in a patient with Retinitis pigmentosa.

ciliopathySTRONG

Inheritance Pattern: AR

Disease ID:MONDO:0005308

Submitter: PanelApp Australia

scoliosisSTRONG

Inheritance Pattern: AD

Disease ID:MONDO:0005392

Submitter: PanelApp Australia

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to POC5 variants in ClinVar

9 Conditions Cataloged

not providedTotal: 337

not specifiedTotal: 87

Retinal dystrophyTotal: 5

POC5-related disorderTotal: 2

Syndromic retinitis pigmentosaTotal: 1

ScoliosisTotal: 1

Optic atrophyTotal: 1

Scoliosis, isolated, susceptibility to, 1Total: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001099271.2. 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			3 clinvar	77 clinvar	5 clinvar	85
missense	1 clinvar		220 clinvar	8 clinvar	5 clinvar	234
nonsense			6 clinvar			6
start loss						0
frameshift		1 clinvar	7 clinvar			8
splice donor/acceptor (+/-2bp)			6 clinvar			6
Total	1	1	242	85	10	339

Highest pathogenic variant AF is 7.333733e-7

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 34 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001099271.2	RefSeq	NP_001092741.1	11	MANE Select
ENST00000428202.7	Ensembl	ENSP00000410216.2	11	MANE Select
NM_152408.3	RefSeq	NP_689621.2	11	Standard
ENST00000446329.6	Ensembl	ENSP00000399481.2	11	Standard

Model Organisms & Knockout Phenotypes

Observed phenotypic effects in mouse and zebrafish models

Gene / Model	Organism	Observed Phenotype
poc5	Danio rerio	Structure: eye photoreceptor cell Quality: decreased length abnormal

Gene / Model

Organism

Observed Phenotype

poc5

Danio rerio

Structure: eye photoreceptor cell

Quality: decreased length

abnormal

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

cell cycle

Molecular Function

protein binding

Cellular Component

nucleus
nucleoplasm
centrosome
centriole
cytosol

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000428202
Coding exons: 11
Length: 43365
Individuals with no LoFs: 124612
Homozygous LoFs: 0
Heterozygous LoFs: 25
Defined: 124637
p: 0.000100

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.390	261	279	0.934	0.0000137	3695
Missense (PolyPhen)		133	143	0.93004		1972
Synonymous	0.0336	96	96.4	0.996	0.00000530	1102
Loss of Function	1.89	15	25.3	0.594	0.00000129	349

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00020	0.00019	rare
Latino/Admixed American	0.000089	0.000087	rare
Ashkenazi Jewish	0.00020	0.00020	rare
East Asian	0.000056	0.000056	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.000092	0.000088	rare
South Asian	0.00018	0.00016	rare
Other	0.00017	0.00017	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Essential for the assembly of the distal half of centrioles, required for centriole elongation. {ECO:0000269|PubMed:19349582}.;

Recessive Scores

pRec: 0.0741

Intolerance Scores

RVIS EVS: 0.62
RVIS percentile EVS: 83.42

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.114

Gene Damage Prediction

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