POC5 (POC5 centriolar protein)

Gene

• Entrez ID: 134359
• Gene name: POC5 centriolar protein
• Gene symbol: POC5
• Synonyms (NCBI Gene): C5orf37
• Chromosome: 5
• Chromosome location: 5q13.3

SNPs

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

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 617880
• HGNC: 26658
• e!Ensembl: ENSG00000152359

Protein

• UniProt ID: 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|
• Sequence:

  MSSDEEKYSLPVVQNDSSRGSSVSSNLQEEYEELLHYAIVTPNIEPCASQSSHPKGELVP
  DVRISTIHDILHSQGNNSEVRETAIEVGKGCDFHISSHSKTDESSPVLSPRKPSHPVMDF
  FSSHLLADSSSPATNSSHTDAHEILVSDFLVSDENLQKMENVLDLWSSGLKTNIISELSK
  WRLNFIDWHRMEMRKEKEKHAAHLKQLCNQINELKELQKTFEISIGRKDEVISSLSHAIG
  KQKEKIELMRTFFHWRIGHVRARQDVYEGKLADQYYQRTLLKKVWKVWRSVVQKQWKDVV
  ERACQARAEEVCIQISNDYEAKVAMLSGALENAKAEIQRMQHEKEHFEDSMKKAFMRGVC
  ALNLEAMTIFQNRNDAGIDSTNNKKEEYGPGVQGKEHSAHLDPSAPPMPLPVTSPLLPSP
  PAAVGGASATAVPSAASMTSTRAASASSVHVPVSALGAGSAATAASEEMYVPRVVTSAQQ
  KAGRTITARITGRCDFASKNRISSSLAIMGVSPPMSSVVVEKHHPVTVQTIPQATAAKYP
  RTIHPESSTSASRSLGTRSAHTQSLTSVHSIKVVD

• Sequence length: 575

Associated diseases

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANOREXIA NERVOSA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANCER	—	GWAS catalog	★★☆☆☆ 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	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	GWAS catalog	★★☆☆☆ 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	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ 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	★★★☆☆ 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	★★☆☆☆ 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	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
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