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Aliases for SRPX2 Gene

Aliases for SRPX2 Gene

  • Sushi Repeat Containing Protein, X-Linked 2 2 3
  • Sushi-Repeat Protein Upregulated In Leukemia 3 4
  • Sushi-Repeat-Containing Protein, X-Linked 2 2 3
  • Sushi-Repeat Containing Protein, X-Linked 2 3 5
  • SRPUL 3 4
  • Sushi-Repeat Protein Up-Regulated In Leukemia 3
  • RESDX 3
  • CBPS 3
  • PMGX 3
  • BPP 3

External Ids for SRPX2 Gene

Previous GeneCards Identifiers for SRPX2 Gene

  • GC0XP098672
  • GC0XP099705
  • GC0XP099899
  • GC0XP089699

Summaries for SRPX2 Gene

Entrez Gene Summary for SRPX2 Gene

  • This gene encodes a secreted protein that contains three sushi repeat motifs. The encoded protein may play a role in the development of speech and language centers in the brain. This protein may also be involved in angiogenesis. Mutations in this gene are the cause of bilateral perisylvian polymicrogyria, rolandic epilepsy, speech dyspraxia and mental retardation. [provided by RefSeq, May 2010]

GeneCards Summary for SRPX2 Gene

SRPX2 (Sushi Repeat Containing Protein, X-Linked 2) is a Protein Coding gene. Diseases associated with SRPX2 include rolandic epilepsy, mental retardation, and speech dyspraxia and rolandic epilepsy-speech dyspraxia syndrome. GO annotations related to this gene include identical protein binding and hepatocyte growth factor binding. An important paralog of this gene is CCDC80.

UniProtKB/Swiss-Prot for SRPX2 Gene

  • 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.

Gene Wiki entry for SRPX2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SRPX2 Gene

Genomics for SRPX2 Gene

Regulatory Elements for SRPX2 Gene

Promoters for SRPX2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SRPX2 on UCSC Golden Path with GeneCards custom track

Genomic Location for SRPX2 Gene

Chromosome:
X
Start:
100,644,166 bp from pter
End:
100,671,299 bp from pter
Size:
27,134 bases
Orientation:
Plus strand

Genomic View for SRPX2 Gene

Genes around SRPX2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SRPX2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SRPX2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SRPX2 Gene

Proteins for SRPX2 Gene

  • Protein details for SRPX2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60687-SRPX2_HUMAN
    Recommended name:
    Sushi repeat-containing protein SRPX2
    Protein Accession:
    O60687
    Secondary Accessions:
    • B3KQT3
    • Q8WW85

    Protein attributes for SRPX2 Gene

    Size:
    465 amino acids
    Molecular mass:
    52972 Da
    Quaternary structure:
    • Forms homooligomers (By similarity). Interacts with PLAUR (via the UPAR/Ly6 domains), ADAMTS4 and CTSB. Interacts with HGF; the interaction increases the mitogenic activity of HGF.

neXtProt entry for SRPX2 Gene

Proteomics data for SRPX2 Gene at MOPED

Post-translational modifications for SRPX2 Gene

Other Protein References for SRPX2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for SRPX2

No data available for DME Specific Peptides for SRPX2 Gene

Domains & Families for SRPX2 Gene

Gene Families for SRPX2 Gene

Protein Domains for SRPX2 Gene

Suggested Antigen Peptide Sequences for SRPX2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O60687

UniProtKB/Swiss-Prot:

SRPX2_HUMAN :
  • Contains 1 HYR domain.
Domain:
  • Contains 1 HYR domain.
  • Contains 3 Sushi (CCP/SCR) domains.
genes like me logo Genes that share domains with SRPX2: view

Function for SRPX2 Gene

Molecular function for SRPX2 Gene

UniProtKB/Swiss-Prot 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.

Phenotypes for SRPX2 Gene

genes like me logo Genes that share phenotypes with SRPX2: view

Human Phenotype Ontology for SRPX2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for SRPX2

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for SRPX2 Gene

Localization for SRPX2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SRPX2 Gene

Secreted. Cytoplasm. Cell surface. Cell junction, synapse.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SRPX2 Gene COMPARTMENTS Subcellular localization image for SRPX2 gene
Compartment Confidence
extracellular 5
plasma membrane 5
cytoskeleton 3
nucleus 2
endoplasmic reticulum 1
lysosome 1
mitochondrion 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for SRPX2 Gene

Pathways & Interactions for SRPX2 Gene

SuperPathways for SRPX2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SRPX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042325 regulation of phosphorylation IDA 19065654
genes like me logo Genes that share ontologies with SRPX2: view

No data available for Pathways by source and SIGNOR curated interactions for SRPX2 Gene

Drugs & Compounds for SRPX2 Gene

No Compound Related Data Available

Transcripts for SRPX2 Gene

mRNA/cDNA for SRPX2 Gene

Unigene Clusters for SRPX2 Gene

Sushi-repeat containing protein, X-linked 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SRPX2 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13
SP1: - - -
SP2: - - - -
SP3: - -
SP4: - -
SP5: -

Relevant External Links for SRPX2 Gene

GeneLoc Exon Structure for
SRPX2
ECgene alternative splicing isoforms for
SRPX2

Expression for SRPX2 Gene

mRNA expression in normal human tissues for SRPX2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SRPX2 Gene

This gene is overexpressed in Adipose - Visceral (Omentum) (x4.7) and Adipose - Subcutaneous (x4.2).

Protein differential expression in normal tissues from HIPED for SRPX2 Gene

This gene is overexpressed in Ovary (21.8), Pancreas (15.3), Bone marrow mesenchymal stem cell (9.8), and Placenta (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SRPX2 Gene



SOURCE GeneReport for Unigene cluster for SRPX2 Gene Hs.306339

mRNA Expression by UniProt/SwissProt for SRPX2 Gene

O60687-SRPX2_HUMAN
Tissue specificity: Expressed in neurons of the rolandic area of the brain (at protein level). Highly expressed in the brain, placenta, lung, trachea, uterus, adrenal gland, heart, ovary and placenta. Weakly expressed in the peripheral blood, brain and bone marrow. Expressed in numerous cancer cell lines and in gastrointestinal cancer cells. Higher levels found in colorectal cancers than in normal colonic mucosa.
genes like me logo Genes that share expression patterns with SRPX2: view

Primer Products

In Situ Assay Products

No data available for Protein tissue co-expression partners for SRPX2 Gene

Orthologs for SRPX2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SRPX2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SRPX2 36
  • 100 (a)
OneToOne
SRPX2 35
  • 99.86 (n)
  • 99.78 (a)
cow
(Bos Taurus)
Mammalia SRPX2 36
  • 95 (a)
OneToOne
SRPX2 35
  • 91.83 (n)
  • 95.05 (a)
dog
(Canis familiaris)
Mammalia SRPX2 35
  • 93.26 (n)
  • 96.99 (a)
SRPX2 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Srpx2 16
Srpx2 36
  • 93 (a)
OneToOne
Srpx2 35
  • 89.61 (n)
  • 93.76 (a)
oppossum
(Monodelphis domestica)
Mammalia SRPX2 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SRPX2 36
  • 84 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Srpx2 35
  • 89.3 (n)
  • 94.36 (a)
chicken
(Gallus gallus)
Aves SRPX2 35
  • 72.96 (n)
  • 74.4 (a)
SRPX2 36
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia srpx2 35
  • 64.17 (n)
  • 68.06 (a)
zebrafish
(Danio rerio)
Actinopterygii srpx2 36
  • 53 (a)
OneToOne
srpx2 35
  • 58.44 (n)
  • 53.74 (a)
Species with no ortholog for SRPX2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SRPX2 Gene

ENSEMBL:
Gene Tree for SRPX2 (if available)
TreeFam:
Gene Tree for SRPX2 (if available)

Paralogs for SRPX2 Gene

Paralogs for SRPX2 Gene

(1) SIMAP similar genes for SRPX2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with SRPX2: view

Variants for SRPX2 Gene

Sequence variations from dbSNP and Humsavar for SRPX2 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
VAR_030312 Rolandic epilepsy with speech dyspraxia and mental retardation X-linked (RESDX)
rs17851822 - 100,666,831(+) GTGCC(A/T)CCTGT reference, missense
VAR_030314 Rolandic epilepsy with speech dyspraxia and mental retardation X-linked (RESDX)
rs877358 -- 100,648,034(+) TGAGG(A/G)CTCTT intron-variant
rs1204410 -- 100,651,652(+) tggca(C/T)gtgcc intron-variant

Variation tolerance for SRPX2 Gene

Residual Variation Intolerance Score: 92.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.41; 27.69% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SRPX2 Gene

HapMap Linkage Disequilibrium report
SRPX2
Human Gene Mutation Database (HGMD)
SRPX2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for SRPX2 Gene

Disorders for SRPX2 Gene

MalaCards: The human disease database

(16) MalaCards diseases for SRPX2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
rolandic epilepsy, mental retardation, and speech dyspraxia
  • rolandic epilepsy, mental retardation, and speech dyspraxia, x-linked
rolandic epilepsy-speech dyspraxia syndrome
polymicrogyria, bilateral perisylvian
  • bilateral perisylvian polymicrogyria
benign epilepsy with centrotemporal spikes
  • bcects
developmental disabilities
- elite association - COSMIC cancer census association via MalaCards
Search SRPX2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SRPX2_HUMAN
  • Rolandic epilepsy with speech dyspraxia and mental retardation X-linked (RESDX) [MIM:300643]: A condition characterized by the association of rolandic seizures with oral and speech dyspraxia, and mental retardation. Rolandic seizures occur during a period of significant brain maturation. During this time, dysfunction of neural network activities such as focal discharges may be associated with specific developmental disabilities resulting in specific cognitive impairments of language, visuo-spatial abilities or attention. {ECO:0000269 PubMed:16497722}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SRPX2

Genetic Association Database (GAD)
SRPX2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SRPX2
genes like me logo Genes that share disorders with SRPX2: view

No data available for Genatlas for SRPX2 Gene

Publications for SRPX2 Gene

  1. Two candidate downstream target genes for E2A-HLF. (PMID: 9864177) Kurosawa H. … Look A.T. (Blood 1999) 2 3 4 67
  2. SRPX2 mutations in disorders of language cortex and cognition. (PMID: 16497722) Roll P. … Szepetowski P. (Hum. Mol. Genet. 2006) 3 23
  3. Analysis of ELP4, SRPX2, and interacting genes in typical and atypical rolandic epilepsy. (PMID: 24995671) Reinthaler E.M. … Zimprich F. (Epilepsia 2014) 3
  4. Impact of overexpression of Sushi repeat-containing protein X-linked 2 gene on outcomes of gastric cancer. (PMID: 24700475) Yamada T. … Masuda M. (J Surg Oncol 2014) 3
  5. GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction. (PMID: 23933820) Lesca G. … Szepetowski P. (Nat. Genet. 2013) 3

Products for SRPX2 Gene

Sources for SRPX2 Gene

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