Gene Gene information from NCBI Gene database.
Entrez ID 84984
Gene name Centrosomal protein 19
Gene symbol CEP19
Synonyms (NCBI Gene)
C3orf34MOSPGF
Chromosome 3
Chromosome location 3q29
Summary 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.
2
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.
368
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
24
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
615586 28209 ENSG00000174007
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Bardet-Biedl syndrome Pathogenic rs1553794304 RCV000585772
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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.
Phenotype Name Clinical Significance Source Evidence Score
CEP19-related disorder Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Germ cell tumor of testis Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Obesity due to CEP19 deficiency Conflicting classifications of pathogenicity; Uncertain significance; Benign ClinVar
ClinVar, Disgenet, GenCC, Orphanet
ClinVar, Disgenet, GenCC, Orphanet
ClinVar, Disgenet, GenCC, Orphanet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Optic atrophy Uncertain significance ClinVar
Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Azoospermia Azoospermia HPO_DG
★☆☆☆☆
Found in Text Mining only
Bardet-Biedl Syndrome Bardet-Biedl Syndrome CLINVAR_DG 29127258
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ciliopathies Ciliopathies BEFREE 28659385
★☆☆☆☆
Found in Text Mining only
Ciliopathies Ciliopathy Pubtator 28659385 Associate
★☆☆☆☆
Found in Text Mining only
Congestive heart failure Congestive Heart Failure HPO_DG
★☆☆☆☆
Found in Text Mining only
Fatty Liver Fatty Liver HPO_DG
★☆☆☆☆
Found in Text Mining only
Hypertensive disease Hypertension HPO_DG
★☆☆☆☆
Found in Text Mining only
Malnutrition Malnutrition BEFREE 24268657
★☆☆☆☆
Found in Text Mining only
MORBID OBESITY AND SPERMATOGENIC FAILURE MORBID OBESITY AND SPERMATOGENIC FAILURE GENOMICS_ENGLAND_DG 24268657
★☆☆☆☆
Found in Text Mining only
MORBID OBESITY AND SPERMATOGENIC FAILURE MORBID OBESITY AND SPERMATOGENIC FAILURE ORPHANET_DG 24268657
★☆☆☆☆
Found in Text Mining only