SVBP (small vasohibin binding protein)

Gene
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
374969
Gene name Gene Name - the full gene name approved by the HGNC.
Small vasohibin binding protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SVBP
Synonyms (NCBI Gene) Gene synonyms aliases
CCDC23, NEDAHM, SPG94
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p34.2
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all(16)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 29146869, 31171830, 31235910, 31235911, 31270470, 31324789
GO:0005576 Component Extracellular region IEA
GO:0005737 Component Cytoplasm IEA
GO:0005856 Component Cytoskeleton IEA
GO:0006508 Process Proteolysis IDA 29146869
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
617853 29204 ENSG00000177868
Protein
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Q8N300
Protein name Small vasohibin-binding protein (Coiled coil domain-containing protein 23)
Protein function Enhances the tyrosine carboxypeptidase activity of VASH1 and VASH2, thereby promoting the removal of the C-terminal tyrosine residue of alpha-tubulin (PubMed:29146869, PubMed:31171830, PubMed:31235910, PubMed:31235911, PubMed:31270470, PubMed:31
PDB 6J4O , 6J4P , 6J4Q , 6J4S , 6J4U , 6J4V , 6J7B , 6J8F , 6J8N , 6J8O , 6J91 , 6J9H , 6JZC , 6JZD , 6JZE , 6K81 , 6LPG , 6NVQ , 6OCF , 6OCG , 6OCH , 6QBY , 6WSL , 7ZCW
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15674 CCDC23 4 → 66 Coiled-coil domain-containing protein 23 Family
Sequence
Sequence length 66
Interactions View interactions
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (1)
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
Mental retardation syndromic intellectual disability N/A N/A GenCC