SVBP (small vasohibin binding protein)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 374969
Gene name Small vasohibin binding protein
Gene symbol SVBP
Synonyms (NCBI Gene)
CCDC23NEDAHMSPG94
Chromosome 1
Chromosome location 1p34.2
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
617853 29204 ENSG00000177868
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
15
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (6)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Intellectual disability Likely pathogenic; Pathogenic rs1570520175, rs1570520229 RCV000790901
RCV000790902
Lower limb spasticity Likely pathogenic; Pathogenic rs1570520175, rs1570520229 RCV000790901
RCV000790902
Microcephaly Likely pathogenic; Pathogenic rs1570520175, rs1570520229 RCV000790901
RCV000790902
Neurodevelopmental disorder with ataxia Likely pathogenic; Pathogenic rs1570520175 RCV004798872