SVBP

Chr 1p34.2

small vasohibin binding protein

Aliases:: MGC45441
MANE:: ENST00000372521.9

OMIM: 617853 ↗NCBI: 374969 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

SVBP · Q8N300

v62025-08-01

Predicted Aligned Error matrix for SVBP — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

85.1/ 100

Confident

66 residues

Confidence breakdown

Very high(≥ 90)59%
Confident(70–90)17%
Low(50–70)21%
Very low(< 50)3%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Severe microcephaly
BIALLELIC, autosomal or pseudoautosomal
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

neurodevelopmental disorder with ataxia, hypotonia, and microcephaly
0.66
microcephaly
0.43
Intellectual disability
0.43
Lower limb spasticity
0.43
complex neurodevelopmental disorder
0.37
hereditary disease
0.18
hypertensive disorder
0.14
cardiovascular disorder
0.14
Genetic central nervous system malformation
0.07
Polymicrogyria due to TUBB2B mutation
0.06

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Small vasohibin-binding protein

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:31324789). This activity is critical for spindle function and accurate chromosome segregation during mitosis since microtubule detyrosination regulates mitotic spindle length and postioning (PubMed:31171830). Also required to enhance the solubility and secretion of VASH1 and VASH2 (PubMed:20736312, PubMed:27879017, PubMed:30607023). Plays a role in axon and excitatory synapse formation (PubMed:31235911)