SVBP - small vasohibin binding protein Gene

Homo sapiens

Also known as CCDC23; NEDAHM

Gene ID: 374969 | Gene type: protein coding

About SVBP

Cytogenetic location: 1p34.2 Genomic coordinates (GRCh38): 1:42,807,052-42,817,397 (from NCBI)

This gene has 3 transcripts (splice variants), 182 orthologues and is associated with 2 phenotypes. Ubiquitous expression in testis (RPKM 21.3), fat (RPKM 15.7) and 24 other tissues.

Summary

Enables microtubule binding activity. Involved in axon development; proteolysis; and regulation of metallopeptidase activity. Acts upstream of or within negative regulation of endothelial cell migration; negative regulation of protein ubiquitination; and protein secretion. Located in apical part of cell. [provided by Alliance of Genome Resources, Apr 2022]

SVBP Products(1)

mRNA	Protein	Name
NM_199342.4	NP_955374.1	small vasohibin-binding protein

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables microtubule binding	IDA IDA: Inferred from direct assay	31324789	GOA
enables peptidase activator activity	IDA IDA: Inferred from direct assay	31171830	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	29146869	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in axon development	IMP IMP: Inferred from mutant phenotype	31324789	GOA
acts upstream of or within negative regulation of endothelial cell migration	IGI IGI: Inferred from genetic interaction	20736312	GOA
acts upstream of or within negative regulation of protein ubiquitination	IDA IDA: Inferred from direct assay	20736312	GOA
acts upstream of or within protein secretion	IDA IDA: Inferred from direct assay	20736312	GOA
involved in proteolysis	IDA IDA: Inferred from direct assay	29146869	GOA
involved in regulation of metallopeptidase activity	IMP IMP: Inferred from mutant phenotype	31171830	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in apical part of cell	IDA IDA: Inferred from direct assay	20736312	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names

Protein Names

small vasohibin-binding protein

coiled-coil domain containing 23

SVBP Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	SVBP	Q8N300	VASH1	Homo sapiens	Q7L8A9-1	X-Ray Diffraction	31270470

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly

NEDAHM

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Non-Specific Syndromic Intellectual Disability

Complex Neurodevelopmental Disorder

Hypotonia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14057	SVBP Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-148542	EpoY		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	SVBP	MGD	MGI:1916466
Bos taurus	SVBP	VGNC	VGNC:35497
Rattus norvegicus	SVBP	RGD	RGD:1311232
Macaca mulatta	SVBP	VGNC	VGNC:106503
Canis familiaris	SVBP	VGNC	VGNC:49865
Felis catus	SVBP	VGNC	VGNC:107670

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