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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

SRPX2 Gene

protein-coding GIFtS: 53
GCID: GC0XP099899

sushi-repeat containing protein, X-linked 2

(Previous names: sushi-repeat-containing protein, X-linked 2 )

Explore 19 diseases affiliated with
SRPX2 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Sushi-Repeat Containing Protein, X-Linked 2¹ ²		CBPS²
SRPUL¹ ² ³ ⁵		PMGX²
Sushi-Repeat-Containing Protein, X-Linked 2¹ ²		Sushi Repeat-Containing Protein SRPX2²
RESDX² ⁵		Sushi-Repeat Protein Up-Regulated In Leukemia²
BPP²

External Ids:	HGNC: 30668¹	Entrez Gene: 27286²	Ensembl: ENSG00000102359⁷	OMIM: 300642⁵	UniProtKB: O60687³

Export aliases for SRPX2 gene to outside databases

Previous GC identifers: GC0XP098672 GC0XP099705 GC0XP089699

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SRPX2:

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)

UniProtKB/Swiss-Prot: SRPX2_HUMAN, O60687

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 in cancer cells. Increases the phosphorylation levels of FAK. May have a role in the perisylvian region,

critical for language and cognitive development

Gene Wiki entry for SRPX2

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000023.10 NC_018934.1 NT_011651.17

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the SRPX2 gene promoter:
E2F-4 E2F-3a E2F-5 E2F-2 Evi-1 E2F E2F-1 POU2F1 POU2F1a RSRFC4
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SRPX2 promoter sequence

Search SABiosciences Chromatin IP Primers for SRPX2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SRPX2

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq21.33-q23 Ensembl cytogenetic band: Xq22.1 HGNC cytogenetic band: Xq21.33-q23

SRPX2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SRPX2 gene location

GeneLoc information about chromosome X GeneLoc Exon Structure

GeneLoc location for GC0XP099899: view genomic region (about GC identifiers)

Start:	99,899,163 bp from pter	End:	99,926,296 bp from pter
Size:	27,134 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: SRPX2_HUMAN, O60687 (See protein sequence)

Recommended Name: Sushi repeat-containing protein SRPX2 precursor

Size: 465 amino acids; 52972 Da

Subunit: Interacts with ADAMTS4, CTSB and PLAUR. Interacts with PLAUR (via the UPAR/Ly6 domains)

Subcellular location: Cytoplasm. Secreted

Secondary accessions: B3KQT3 Q8WW85

Explore the universe of human proteins at neXtProt for SRPX2: NX_O60687

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_O60687

SRPX2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_055282.1

ENSEMBL proteins:

ENSP00000362095

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	Uscn Proteins for SRPX2

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	IEA	--
GO:0005737	cytoplasm	IDA	19065654
GO:0015630	microtubule cytoskeleton	IDA	--

SRPX2 for ontologies About GeneDecksing

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

SRPX2 for domains About GeneDecksing

3 InterPro domains/families:

IPR003410 Hyalin

IPR000436 Sushi_SCR_CCP

IPR025232 DUF4174

Graphical View of Domain Structure for InterPro Entry O60687

ProtoNet protein and cluster: O60687

UniProtKB/Swiss-Prot: SRPX2_HUMAN, O60687

Similarity: Contains 1 HYR domain

Similarity: Contains 3 Sushi (CCP/SCR) domains

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: SRPX2_HUMAN, O60687

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 in cancer cells. Increases the phosphorylation levels of FAK. May have a role in the perisylvian region,

critical for language and cognitive development

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005102	receptor binding	IPI	18718938
GO:0005515	protein binding	IPI	18718938

SRPX2 for ontologies About GeneDecksing

Animal Models:

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In Situ Assay
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(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for SRPX2

STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

4 Interacting proteins for SRPX2 (O60687^{2, 3} ENSP00000362095⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ADAMTS4	O75173³, ENSP00000356975⁴	I2D: score=1 STRING: ENSP00000356975
CTSB	P07858³, ENSP00000342070⁴	I2D: score=1 STRING: ENSP00000342070
PLAUR	Q03405³, ENSP00000339328⁴	I2D: score=1 STRING: ENSP00000339328
--	Q9WMX2²	MINT-7048217

About this table

Gene Ontology (GO): 5 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001525	angiogenesis	IEA	--
GO:0016337	cell-cell adhesion	IDA	19065654
GO:0042325	regulation of phosphorylation	IDA	19065654
GO:0048870	cell motility	IDA	19065654
GO:0090050	positive regulation of cell migration involved in sprouting angiogenesis	ISS	--

SRPX2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for SRPX2
Search CenterWatch for drugs/clinical trials and news about SRPX2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for SRPX2 gene:

NM_014467.2

Unigene Cluster for SRPX2:

Sushi-repeat containing protein, X-linked 2

Hs.306339 [show with all ESTs]

Unigene Representative Sequence: NM_014467

2 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000373004(uc004egb.3) ENST00000481988

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Additional cDNA sequence:

AF060567.1 AF393649.1 AK075462.1 BC020733.1

5 DOTS entries:

DT.210785 DT.121300348 DT.75171975 DT.121300340 DT.92010470

24/73 AceView cDNA sequences (see all 73):

AF060567 BP346087 AK075462 BI835932 NM_014467 BQ941800 AU280232 CA411877

AU104738 BM924555 AU099214 BP345580 BU930608 BG697893 BC020733 BQ010463

CA413482 AI362134 CA412206 CD625707 BG122833 BM995061 AI969201 AA916592

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for SRPX2 About this scheme

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:															-

ECgene alternative splicing isoforms for SRPX2

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

SRPX2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GTTAAAGTCA

About this image

SRPX2 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

4 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Eye

Inner Nuclear Layer

Type1 Off Cone Bipolar Cells

Bipolar, Retina

Heart

Atrioventricular Node

Atrioventricular Node Cells

Myocardium

Bone

Cartilage

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 6 LifeMap Cells

Name

Category

PureStem™ mesenchymal progenitor 7PEND24 (Embryonic Progenitor Cell)

Cartilage, Neural Crest

PureStem™ progenitor EN13 (Embryonic Progenitor Cell)

PureStem™ progenitor EN2 (Embryonic Progenitor Cell)

White adipocyte-like cells (Differentiation of ...)

Adipose

Trophoblast-like cells (Generation of tropho...)

HyStem+TGF?3+GDF5-induced 7SMOO32 cells (HyStem+TGF?3+GDF5 in...)

Bone, Cartilage

See SRPX2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SRPX2

SOURCE GeneReport for Unigene cluster: Hs.306339

UniProtKB/Swiss-Prot: SRPX2_HUMAN, O60687

Tissue specificity: Expressed in neurons of the rolandic area of the brain (at protein level). Highly expressed in the

brain, placenta, lung, trachea, uterus and adrenal gland. Weakly expressed in the peripheral blood, brain and bone

marrow. Expressed in numerous cancer cell lines

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for SRPX2 gene from 3/11 species (see all 11) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Details
mouse (Mus musculus)	Mammalia	Srpx2^{1 , 5}	sushi-repeat-containing protein, X-linked 2^{1, 5}	89.61(n)¹ 93.76(a)¹	X (55.47 cM)⁵ 68792¹ NM_001083895.1¹ NP_001077364.1¹ 133908426⁵
chicken (Gallus gallus)	Aves	SRPX2¹	sushi-repeat containing protein, X-linked 2	72.96(n) 74.4(a)	422261 XM_420246.3 XP_420246.3
zebrafish (Danio rerio)	Actinopterygii	LOC100332730¹	sushi repeat-containing protein SRPX2-like	59.34(n) 55.15(a)	100332730 XM_002664435.2 XP_002664481.2

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for SRPX2 gene

SRPX²

1 SIMAP similar gene for SRPX2 using alignment to 1 protein entry: SRPX2_HUMAN:

SRPX

SRPX2 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr X pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs121918363^1,2	C,F	pathogenic	99922289(+)	`CGTCAA/GCGTCA`	2	N S	mis¹		1		NA	4550
rs5921617^1,2	C,A	--	99897249(+)	`CTCTCA/TCACAC`	1	--	us2k¹		1		NA	2
rs201566969^1,2		--	99897287(+)	`CTCAA-/ACACACA`	1	--	us2k¹		0	--	--	--	--
rs151109658^1,2		--	99897318(+)	`TTCACC/TATTTT`	1	--	us2k¹		0	--	--	--	--
rs191661184^1,2		--	99897350(+)	`AACTCC/TTATAT`	1	--	us2k¹		0	--	--	--	--
rs184101047^1,2		--	99897450(+)	`TAAAGG/TTGAAC`	1	--	us2k¹		0	--	--	--	--
rs186612278^1,2		--	99897580(+)	`TATTAC/TGGTAG`	1	--	us2k¹		0	--	--	--	--
rs139708870^1,2	C	--	99897791(+)	`TTGATG/TTCTGT`	1	--	us2k¹		0	--	--	--	--
rs73555457^1,2	C	--	99897939(+)	`TTTTGT/ACTGTC`	1	--	us2k¹		1		WA	2
rs191155029^1,2		--	99898005(+)	`GAATGA/TATAAG`	1	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for SRPX2 (99899163 - 99926296 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for SRPX2: --
Human Gene Mutation Database (HGMD): SRPX2

Locus Specific Mutation Databases (LSDB): SRPX2

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SRPX2

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

SRPX2 for disorders           About GeneDecksing

OMIM gene information: 300642
OMIM disorders: 300643
UniProtKB/Swiss-Prot: SRPX2_HUMAN, O60687

Defects in SRPX2 are a cause of 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 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

19 diseases for SRPX2: About MalaCards

bilateral perisylvian polymicrogyria rolandic epilepsy, mental retardation, and speech dyspraxia polymicrogyria landau-kleffner syndrome

mental retardation, x-linked periventricular nodular heterotopia brachial plexus neuropathy pseudobulbar palsy

mental retardation epilepsy developmental disabilities leukemia intellectual disability

oligohydramnios heterotopia pneumonia gastric cancer

pancreatic cancer pancreatitis neuronitis

3 diseases from the University of Copenhagen DISEASES database for SRPX2:

Benign epilepsy with centrotemporal spikes Pseudobulbar palsy Oligohydramnios

Export disorders for SRPX2 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for SRPX2 gene, integrated from 9 sources (see all 20):
(articles sorted by number of sources associating them with SRPX2)

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SRPX2 mutations in disorders of language cortex and cognition. (PubMed id 16497722)^{1, 2, 9} Roll P....Szepetowski P. (2006)
SRPX2 is overexpressed in gastric cancer and promotes cellular migration and adhesion. (PubMed id 19065654)^{1, 2} Tanaka K....Nishio K. (2009)
Epileptic and developmental disorders of the speech cortex: ligand/receptor interaction of wild-type and mutant SRPX2 with the plasminogen activator receptor uPAR. (PubMed id 18718938)^{1, 2} Royer-Zemmour B....Szepetowski P. (2008)
The DNA sequence of the human X chromosome. (PubMed id 15772651)^{1, 2} Ross M.T.... Bentley D.R. (2005)
Signal sequence and keyword trap in silico for selection of full- length human cDNAs encoding secretion or membrane proteins from oligo- capped cDNA libraries. (PubMed id 16303743)^{1, 2} Otsuki T....Isogai T. (2005)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Two candidate downstream target genes for E2A-HLF. (PubMed id 9864177)^{1, 3} Kurosawa H....Look A.T. (1999)
SRPX2 is a novel chondroitin sulfate proteoglycan that is overexpressed in gastrointestinal cancer. (PubMed id 22242148)¹ Tanaka K....Nishio K. (2012)
Molecular networks implicated in speech-related disor ders: FOXP2 regulates the SRPX2/uPAR complex. (PubMed id 20858596)¹ Roll P....Szepetowski P. (2010)
Characterization of SVEP1, KIAA, and SRPX2 in an in v itro cell culture model of endotoxemia. (PubMed id 20236627)¹ Schwanzer-Pfeiffer D....Falkenhagen D. (2010)

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 27286	HGNC: 30668	AceView: SRPX2	Ensembl:ENSG00000102359	euGenes: HUgn27286
ECgene: SRPX2	H-InvDB: SRPX2

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
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Name	Description
PharmGKB entry for SRPX2	Pharmacogenomics, SNPs, Pathways

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SRPX2 Gene

sushi-repeat containing protein, X-linked 2

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SRPX2 Gene

sushi-repeat containing protein, X-linked 2

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