Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

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

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
GO:0008017	Function	Microtubule binding	IDA	31324789
GO:0009306	Process	Protein secretion	IBA
GO:0009306	Process	Protein secretion	IDA	20736312
GO:0010596	Process	Negative regulation of endothelial cell migration	IGI	20736312
GO:0016504	Function	Peptidase activator activity	IDA	31171830, 31235910, 31235911, 31270470
GO:0031397	Process	Negative regulation of protein ubiquitination	IBA
GO:0031397	Process	Negative regulation of protein ubiquitination	IDA	20736312
GO:0045177	Component	Apical part of cell	IBA
GO:0045177	Component	Apical part of cell	IDA	20736312
GO:0061564	Process	Axon development	IMP	31324789
GO:1905048	Process	Regulation of metallopeptidase activity	IMP	31171830, 31235910, 31235911, 31270470

MIM	HGNC	e!Ensembl
617853	29204	ENSG00000177868

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

MDPPARKEKTKVKESVSRVEKAKQKSAQQELKQRQRAEIYALNRVMTELEQQQFDEFCKQ
MQPPGE

Sequence length

Interactions

View interactions

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)

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Intellectual disability	Likely pathogenic; Pathogenic	rs1570520175, rs1570520229	RCV000790901 RCV000790902	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lower limb spasticity	Likely pathogenic; Pathogenic	rs1570520175, rs1570520229	RCV000790901 RCV000790902	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly	Likely pathogenic; Pathogenic	rs1570520175, rs1570520229	RCV000790901 RCV000790902	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder with ataxia	Likely pathogenic; Pathogenic	rs1570520175	RCV004798872	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly	Likely pathogenic; Pathogenic	rs1570520175, rs1570520229	RCV000850172 RCV000856928	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SVBP-related disorder	Likely pathogenic	rs750216083	RCV003388214	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (3)

Disease Name	Disease (Merged)	Source	PMID	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Intellectual Disability	Mental retardation	BEFREE	30607023	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Liver carcinoma	Liver carcinoma	BEFREE	22614011	★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-specific syndromic intellectual disability	Syndromic Mental Retardation	Orphanet		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

SVBP (small vasohibin binding protein)