Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
84984
Gene name Gene Name - the full gene name approved by the HGNC.
Centrosomal protein 19
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CEP19
Synonyms (NCBI Gene) Gene synonyms aliases
C3orf34, MOSPGF
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q29
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene localizes to centrosomes and primary cilia and co-localizes with a marker for the mother centriole. This gene resides in a region of human chromosome 3 that is linked to morbid obesity. A homozygous knockout of the ortholo
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs587777230 G>A Pathogenic Stop gained, coding sequence variant
rs1553794304 ->T Pathogenic Stop gained, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT019930 hsa-miR-375 Microarray 20215506
MIRT021514 hsa-miR-145-5p Reporter assay;Microarray 21351259
MIRT024629 hsa-miR-215-5p Microarray 19074876
MIRT026631 hsa-miR-192-5p Microarray 19074876
MIRT503759 hsa-miR-548an HITS-CLIP 21572407
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000922 Component Spindle pole IBA
GO:0000922 Component Spindle pole IDA 21399614
GO:0000922 Component Spindle pole IEA
GO:0005515 Function Protein binding IPI 16189514, 25416956, 25814554, 26638075, 28428259, 28514442, 28625565, 28659385, 32296183, 33961781
GO:0005654 Component Nucleoplasm IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
615586 28209 ENSG00000174007
Protein
UniProt ID Q96LK0
Protein name Centrosomal protein of 19 kDa (Cep19)
Protein function Required for ciliation (PubMed:28428259, PubMed:28625565, PubMed:28659385). Recruits the RABL2B GTPase to the ciliary base to initiate ciliation. After specifically capturing the activated GTP-bound RABL2B, the CEP19-RABL2B complex binds intrafl
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14933 CEP19 6 156 CEP19-like protein Family
Sequence
Sequence length 163
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)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Bardet-Biedl Syndrome bardet-biedl syndrome rs1553794304 N/A
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Ciliopathies Associate 28659385
Obesity Morbid Associate 28659385