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 cognitive disability. [provided b... See more...

Aliases for SRPX2 Gene

Aliases for SRPX2 Gene

  • Sushi Repeat Containing Protein X-Linked 2 2 3 5
  • SRPUL 2 3 4
  • Sushi-Repeat Protein Upregulated In Leukemia 3 4
  • Sushi Repeat-Containing Protein SRPX2 3 4
  • Sushi-Repeat Protein Up-Regulated In Leukemia 3
  • Sushi-Repeat-Containing Protein, X-Linked 2 2
  • RESDX 3
  • SRPX2 5
  • 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 cognitive disability. [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, X-Linked and Rolandic Epilepsy-Speech Dyspraxia Syndrome. Gene Ontology (GO) annotations related to this gene include identical protein binding and hepatocyte growth factor binding. An important paralog of this gene is SRPX.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SRPX2 Gene

Genomics for SRPX2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SRPX2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ100642 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 615.4 +2.8 2818 8.9 GATAD2A ZNF629 REST SOX13 PRDM1 RBFOX2 RXRB IRF2 SP1 GABPA SRPX2 SYTL4 TSPAN6 ARMCX4 CSTF2 PPIAP90 PCDH19 HSALNG0139159 lnc-TSPAN6-1 RF00017-8584
GH0XJ100591 Enhancer 0.5 Ensembl ENCODE 12.3 -51.5 -51466 3.3 MAFF MAFK TSPAN6 SRPX2 PCDH19 DRP2 TNMD LOC105373298
GH0XJ100609 Enhancer 0.4 Ensembl 13.2 -34.3 -34294 1 ZNF740 CTCF RAD21 GTF2A2 SRPX2 TSPAN6 PCDH19 LOC105373298 TNMD
GH0XJ100450 Enhancer 0.5 Ensembl 5.5 -193.9 -193894 1 SP1 GABPA NR2F2 GABPB1 TFAP4 RAD21 CTCF RXRA SRPX2 NOX1 piR-52294-156 PCDH19 TNMD
GH0XJ100608 Enhancer 0.2 Ensembl 13.2 -35.2 -35194 0.4 TSPAN6 SRPX2 LOC105373298 TNMD
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SRPX2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SRPX2

Top Transcription factor binding sites by QIAGEN in the SRPX2 gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • Evi-1
  • POU2F1
  • POU2F1a
  • RSRFC4

Genomic Locations for SRPX2 Gene

Genomic Locations for SRPX2 Gene
chrX:100,644,195-100,675,788
(GRCh38/hg38)
Size:
31,594 bases
Orientation:
Plus strand
chrX:99,899,163-99,926,296
(GRCh37/hg19)
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

Post-translational modifications for SRPX2 Gene

Other Protein References for SRPX2 Gene

No data available for DME Specific Peptides for SRPX2 Gene

Domains & Families for SRPX2 Gene

Gene Families for SRPX2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for SRPX2 Gene

Suggested Antigen Peptide Sequences for SRPX2 Gene

GenScript: Design optimal peptide antigens:
  • Sushi repeat-containing protein SRPX2 (SRPX2_HUMAN)
genes like me logo Genes that share domains with SRPX2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for SRPX2 Gene

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.

Gene Ontology (GO) - Molecular Function for SRPX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 signaling receptor binding IEA,IPI 18718938
GO:0005201 extracellular matrix structural constituent RCA 25037231
GO:0005515 protein binding IPI 18718938
GO:0036458 hepatocyte growth factor binding IDA 22242148
GO:0042802 identical protein binding IDA 24179158
genes like me logo Genes that share ontologies with SRPX2: view
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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SRPX2

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SRPX2 gene
Compartment Confidence
extracellular 5
plasma membrane 4
cytoskeleton 3
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SRPX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IDA 9864177
GO:0005737 cytoplasm IEA,IDA 9864177
GO:0009986 cell surface ISS --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with SRPX2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SRPX2 Gene

Pathways & Interactions for SRPX2 Gene

PathCards logo

SuperPathways for SRPX2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SRPX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis IEA --
GO:0007155 cell adhesion IEA --
GO:0042325 regulation of phosphorylation IDA 19065654
GO:0048870 cell motility IDA 19065654
GO:0051965 positive regulation of synapse assembly IEA,IDA 24179158
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

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SRPX2

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

Expression for SRPX2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 and MOPED for SRPX2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SRPX2

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.

Evidence on tissue expression from TISSUES for SRPX2 Gene

  • Nervous system(2.9)
  • Skin(2.6)
  • Heart(2.6)
  • Lung(2.4)
  • Stomach(2.3)
  • Blood(2.3)
  • Kidney(2.2)
  • Liver(2.2)
  • Muscle(2.2)
  • Pancreas(2)
  • Intestine(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SRPX2 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • face
  • head
  • jaw
  • larynx
  • mandible
  • maxilla
  • neck
  • pharynx
  • tongue
General:
  • peripheral nervous system
genes like me logo Genes that share expression patterns with SRPX2: view

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 30 31
  • 99.86 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SRPX2 30 31
  • 93.26 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SRPX2 30 31
  • 91.83 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Srpx2 30 17 31
  • 89.61 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Srpx2 30
  • 89.3 (n)
Oppossum
(Monodelphis domestica)
Mammalia SRPX2 31
  • 88 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SRPX2 31
  • 84 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SRPX2 30 31
  • 72.96 (n)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia srpx2 30
  • 64.17 (n)
Zebrafish
(Danio rerio)
Actinopterygii srpx2 30 31
  • 58.44 (n)
OneToOne
Species where no ortholog for SRPX2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for SRPX2: view image

Paralogs for SRPX2 Gene

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

  • SRPX2_HUMAN
genes like me logo Genes that share paralogs with SRPX2: view

Variants for SRPX2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SRPX2 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
648942 Uncertain Significance: Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked 100,665,582(+) G/C MISSENSE_VARIANT
664168 Uncertain Significance: Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked 100,662,214(+) G/A MISSENSE_VARIANT
667526 Benign: not provided 100,665,978(+) G/A INTRON_VARIANT
668969 Benign: not provided 100,664,479(+) T/C INTRON_VARIANT
670790 Benign: not provided 100,664,736(+) G/A INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for SRPX2 Gene

Structural Variations from Database of Genomic Variants (DGV) for SRPX2 Gene

Variant ID Type Subtype PubMed ID
dgv2347e212 CNV loss 25503493

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)

Additional Variant Information for SRPX2 Gene

Human Gene Mutation Database (HGMD)
SRPX2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SRPX2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SRPX2 Gene

Disorders for SRPX2 Gene

MalaCards: The human disease database

(17) MalaCards diseases for SRPX2 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- 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 may be caused by mutations affecting the gene represented in this entry.

Additional Disease Information for 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. SRPX2 mutations in disorders of language cortex and cognition. (PMID: 16497722) Roll P … Szepetowski P (Human molecular genetics 2006) 3 4 23
  2. Two candidate downstream target genes for E2A-HLF. (PMID: 9864177) Kurosawa H … Look AT (Blood 1999) 2 3 4
  3. The human language-associated gene SRPX2 regulates synapse formation and vocalization in mice. (PMID: 24179158) Sia GM … Huganir RL (Science (New York, N.Y.) 2013) 3 4
  4. SRPX2 is a novel chondroitin sulfate proteoglycan that is overexpressed in gastrointestinal cancer. (PMID: 22242148) Tanaka K … Nishio K (PloS one 2012) 3 4
  5. SRPX2 is overexpressed in gastric cancer and promotes cellular migration and adhesion. (PMID: 19065654) Tanaka K … Nishio K (International journal of cancer 2009) 3 4

Products for SRPX2 Gene

Sources for SRPX2 Gene