Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	134359
Gene name	POC5 centriolar protein
Gene symbol	POC5
Synonyms (NCBI Gene)	C5orf37
Chromosome	5
Chromosome location	5q13.3

SNP ID	Visualize variation	Clinical significance	Consequence
rs1561480377	CT>-	Uncertain-significance, pathogenic	Coding sequence variant, 5 prime UTR variant, non coding transcript variant, stop gained

20 Show/Hide all (20)

miRTarBase ID	miRNA	Experiments	Reference
MIRT613581	hsa-miR-7109-3p	HITS-CLIP	23824327
MIRT613580	hsa-miR-6819-3p	HITS-CLIP	23824327
MIRT613579	hsa-miR-6877-3p	HITS-CLIP	23824327
MIRT613578	hsa-miR-643	HITS-CLIP	23824327
MIRT613577	hsa-miR-2682-3p	HITS-CLIP	23824327
MIRT613576	hsa-miR-6781-3p	HITS-CLIP	23824327
MIRT613575	hsa-miR-2054	HITS-CLIP	23824327
MIRT613581	hsa-miR-7109-3p	HITS-CLIP	23824327
MIRT613580	hsa-miR-6819-3p	HITS-CLIP	23824327
MIRT613579	hsa-miR-6877-3p	HITS-CLIP	23824327
MIRT613578	hsa-miR-643	HITS-CLIP	23824327
MIRT613577	hsa-miR-2682-3p	HITS-CLIP	23824327
MIRT613576	hsa-miR-6781-3p	HITS-CLIP	23824327
MIRT613575	hsa-miR-2054	HITS-CLIP	23824327
MIRT1246366	hsa-miR-4775	CLIP-seq
MIRT1246367	hsa-miR-590-3p	CLIP-seq
MIRT2072753	hsa-miR-330-3p	CLIP-seq
MIRT2072754	hsa-miR-4422	CLIP-seq
MIRT2072755	hsa-miR-520d-5p	CLIP-seq
MIRT2072756	hsa-miR-524-5p	CLIP-seq

11 Show/Hide all (11)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25416956, 26638075, 27107012, 28514442, 29892012, 30845169, 31515488, 32296183, 32814053, 33961781, 35271311, 35709258
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA	21399614, 37934472
GO:0005813	Component	Centrosome	IEA
GO:0005814	Component	Centriole	IDA	32110738, 32946374, 37934472
GO:0005814	Component	Centriole	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0032391	Component	Photoreceptor connecting cilium	IBA
GO:0042462	Process	Eye photoreceptor cell development	IBA
GO:0061511	Process	Centriole elongation	IMP	32946374
GO:1903723	Process	Negative regulation of centriole elongation	IMP	37934472

MIM	HGNC	e!Ensembl
617880	26658	ENSG00000152359

Q8NA72

Protein name

Centrosomal protein POC5 (Protein of centriole 5) (hPOC5)

Protein function

Essential for the assembly of the distal half of centrioles, required for centriole elongation (PubMed:19349582, PubMed:32946374). Acts as a negative regulator of centriole elongation (PubMed:37934472). {ECO:0000269|PubMed:19349582, ECO:0000269|

Family and domains

Sequence

MSSDEEKYSLPVVQNDSSRGSSVSSNLQEEYEELLHYAIVTPNIEPCASQSSHPKGELVP
DVRISTIHDILHSQGNNSEVRETAIEVGKGCDFHISSHSKTDESSPVLSPRKPSHPVMDF
FSSHLLADSSSPATNSSHTDAHEILVSDFLVSDENLQKMENVLDLWSSGLKTNIISELSK
WRLNFIDWHRMEMRKEKEKHAAHLKQLCNQINELKELQKTFEISIGRKDEVISSLSHAIG
KQKEKIELMRTFFHWRIGHVRARQDVYEGKLADQYYQRTLLKKVWKVWRSVVQKQWKDVV
ERACQARAEEVCIQISNDYEAKVAMLSGALENAKAEIQRMQHEKEHFEDSMKKAFMRGVC
ALNLEAMTIFQNRNDAGIDSTNNKKEEYGPGVQGKEHSAHLDPSAPPMPLPVTSPLLPSP
PAAVGGASATAVPSAASMTSTRAASASSVHVPVSALGAGSAATAASEEMYVPRVVTSAQQ
KAGRTITARITGRCDFASKNRISSSLAIMGVSPPMSSVVVEKHHPVTVQTIPQATAAKYP
RTIHPESSTSASRSLGTRSAHTQSLTSVHSIKVVD

Sequence length

575

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal. Show/Hide Unknown Diseases (30)
ANOREXIA NERVOSA	—	GWAS catalog	36738649	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	27790247	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	36738649	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANCER	—	GWAS catalog	27790247	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	27790247	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS	—	GWAS catalog	27790247, 39024449	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	GWAS catalog	27790247	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	31589552, 39349817	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	32632093, 34294844	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	23563607, 39024449	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic atrophy	Benign	ClinVar Disgenet	—	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
POC5-related disorder	Conflicting classifications of pathogenicity; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal dystrophy	Benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis pigmentosa	Conflicting classifications of pathogenicity	ClinVar CTD, Disgenet CTD, Disgenet	29272404	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
RETINITIS PIGMENTOSA 1	—	CTD	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS, UNSPECIFIED	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	GWAS catalog	27790247	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Syndromic retinitis pigmentosa	Conflicting classifications of pathogenicity	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	29632382, 30054458, 30297969, 31589552, 35551307, 36738649, 38685053, 39024449, 39349817	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (10)
Androgen-Insensitivity Syndrome	Androgen-Insensitivity Syndrome	BEFREE	29189569, 30845169		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	29632382, 30054458		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	30652413		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	BEFREE	29272404		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	GWASDB_DG	23563607		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	GWASCAT_DG	23563607		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	26537541	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal Dystrophies	Retinal Dystrophy	BEFREE	29272404		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	29272404		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Scoliosis	Scoliosis	Pubtator	34356048, 37239471	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

POC5 (POC5 centriolar protein)

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