POC5 (POC5 centriolar protein)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
134359
Gene name Gene Name - the full gene name approved by the HGNC.
POC5 centriolar protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
POC5
Synonyms (NCBI Gene) Gene synonyms aliases
C5orf37
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q13.3
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
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 miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
617880 26658 ENSG00000152359
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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|
Family and domains
Sequence 
MSSDEEKYSLPVVQNDSSRGSSVSSNLQEEYEELLHYAIVTPNIEPCASQSSHPKGELVP
DVRISTIHDILHSQGNNSEVRETAIEVGKGCDFHISSHSKTDESSPVLSPRKPSHPVMDF
FSSHLLADSSSPATNSSHTDAHEILVSDFLVSDENLQKMENVLDLWSSGLKTNIISELSK
WRLNFIDWHRMEMRKEKEKHAAHLKQLCNQINELKELQKTFEISIGRKDEVISSLSHAIG
KQKEKIELMRTFFHWRIGHVRARQDVYEGKLADQYYQRTLLKKVWKVWRSVVQKQWKDVV
ERACQARAEEVCIQISNDYEAKVAMLSGALENAKAEIQRMQHEKEHFEDSMKKAFMRGVC
ALNLEAMTIFQNRNDAGIDSTNNKKEEYGPGVQGKEHSAHLDPSAPPMPLPVTSPLLPSP
PAAVGGASATAVPSAASMTSTRAASASSVHVPVSALGAGSAATAASEEMYVPRVVTSAQQ
KAGRTITARITGRCDFASKNRISSSLAIMGVSPPMSSVVVEKHHPVTVQTIPQATAAKYP
RTIHPESSTSASRSLGTRSAHTQSLTSVHSIKVVD
Sequence length 575
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (5)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Diabetes Type 2 diabetes, Type 2 diabetes (adjusted for BMI), Type 2 diabetes (PheCode 250.2) N/A N/A GWAS
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Obesity Obesity N/A N/A GWAS
Retinitis Pigmentosa retinitis pigmentosa, Syndromic retinitis pigmentosa N/A N/A ClinVar
Show/Hide Text Mining Associations (4)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Obesity Associate 26537541
Scoliosis Associate 34356048, 37239471
Smoke Inhalation Injury Associate 26537541
Snoring Associate 32060260