• 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
SRPX2 (HGNC:30668) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
sushi repeat containing protein X-linked 2
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
SRPUL
%HI
16.71(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.05(Read more about gnomAD pLI score)
LOEUF
0.54(Read more about gnomAD LOEUF score)
Cytoband
Xq22.1
Genomic Coordinates
GRCh37/hg19: chrX:99899196-99930785 NCBI Ensembl UCSC
GRCh38/hg38: chrX:100644199-100675788 NCBI Ensembl UCSC
MANE Select Transcript
NM_014467.3 ENST00000373004.5 (Read more about MANE Select)
Function
Acts as a ligand for the urokinase plasminogen activator surface receptor. Plays a role in angiogenesis by inducing endothelial cell migration and the formation of vascular network (cords). Involved in cellular migration and adhesion. Increases the phosphorylation levels of FAK. Interacts with and increases the mitogenic activity of HGF. Promotes synapse formation. May have a role in the perisylvian region, critical for language and cognitive development. {ECO:0000269|PubMed:16497722, ECO:000026... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-33352
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
07/25/2012

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
There have been two reports of missense mutations in patients with rolandic epilepsy, mental retardation, and speech dyspraxia (OMIM 300643). A N327S mutation was found in a large family with both males and females affected and results in a gain of N-glycosylation and increased protein retention in the endoplasmic reticulum. A Y72S mutation was identified in a male patient with rolandic seizures who also had bilateral perisylvian polymicrogyria and was present in his mother and maternal aunt, who were normal, and two other maternal aunts who had mild intellectual disability (PMID: 16497722). Royer-Zemmour et al (2008) showed that the Y72S mutation leads to gain of affinity for binding partner uPAR (PMID: 18718938). While loss of function has not been ruled out as a disease mechanism, a dominant-negative effect or other gain of function remain possible mechanisms. Furthermore, two female patients with idiopathic epilepsy (a phenotype that is distinct from rolandic epilepsy) have been described with genomic deletions that include SRPX2. The PCDH19 gene was involved for both patients and considered causative, but the lack of rolandic seizures and speech dyspraxia in these patients may suggest that haploinsufficiency of SRPX2 does not lead to the rolandic epilepsy phenotype (PMIDs: 22091964 and 21053371).
NOTE:

The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
NOTE:

The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.

Genomic View

Select assembly: (NC_000023.10) (NC_000023.11)