SRPX2 - sushi repeat containing protein X-linked 2 Gene

Also Known as BPP; CBPS; PMGX; RESDX; SRPUL

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 27286

About SRPX2

Cytogenetic location: Xq22.1 Genomic coordinates (GRCh38): X:100,644,199-100,675,788 (from NCBI)

This gene has 11 transcripts (splice variants), 199 orthologues, 39 paralogues and is associated with 5 phenotypes. Broad expression in urinary bladder (RPKM 13.2), placenta (RPKM 7.8) and 18 other tissues.

Summary

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]

SRPX2 Products (1)

mRNA	Protein	Name
NM_014467.3	NP_055282.1	sushi repeat-containing protein SRPX2 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables hepatocyte growth factor binding	IDA IDA: Inferred from direct assay	22242148	GOA
enables identical protein binding	IDA IDA: Inferred from direct assay	24179158	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	18718938	GOA
enables signaling receptor binding	IPI IPI: Inferred from physical interaction	18718938	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cell motility	IDA IDA: Inferred from direct assay	19065654	GOA
involved in cell-cell adhesion	IDA IDA: Inferred from direct assay	19065654	GOA
involved in positive regulation of synapse assembly	IDA IDA: Inferred from direct assay	24179158	GOA
involved in regulation of phosphorylation	IDA IDA: Inferred from direct assay	19065654	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	9864177	GOA
located in extracellular space	IDA IDA: Inferred from direct assay	9864177	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SRPX2 Protein Structure

Sushi

HYR

Sushi

DUF4174

0
100
200
300
400
465 a.a.

Protein Preferred Names	Protein Names
sushi repeat-containing protein SRPX2	sushi-repeat protein up-regulated in leukemia

Related Diseases

Diseases	Alias
Rolandic Epilepsy, Impaired Intellectual Development, And Speech Dyspraxia, X-Linked	RESDX Rolandic Epilepsy, Mental Retardation, And Speech Dyspraxia, X-Linked Rolandic Epilepsy, Impaired Intellectual Development, And Speech Dyspraxia
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Polymicrogyria, Bilateral Perisylvian, X-Linked	Bilateral Perisylvian Polymicrogyria Polymicrogyria, Bilateral Perisylvian Pmgx Perisylvian Syndrome, Congenital Bilateral Cbps Congenital Bilateral Perisylvian Syndrome Perisylvian Syndrome BPPX Bpp
Benign Epilepsy With Centrotemporal Spikes	Rolandic Epilepsy Benign Rolandic Epilepsy Epilepsy, Rolandic Bcects Benign Childhood Epilepsy With Centrotemporal Spike Sylvan Seizures Becrs Bects Bre Benign Epilepsy Of Childhood With Centrotemporal Spikes Benign Familial Epilepsy Of Childhood With Rolandic Spikes Centrotemporal Epilepsy
Polymicrogyria	Pmg
Schwannoma Of Twelfth Cranial Nerve	Hypoglossal Schwannoma Schwannoma Of The Twelfth Cranial Nerve
Hypoglossal Nerve Disease	Hypoglossal Nerve Diseases Disorder Of 12th Nerve Disorder Of Hypoglossal [12th] Nerve Disorder Of Hypoglossal Nerve Disorder Of Xii Nerve Disorders Of The Twelfth Cranial Nerve Disorders Of 12th Cranial Nerve
Epilepsy	Epilepsy Syndrome Epileptic Syndrome Epilepsies Symptomatic Epilepsies Post Traumatic Epilepsy Traumatic Epilepsy Traumatic Epileptic Epilepsy Due To Hippocampal Sclerosis Epilepsy With Ammon'S Horn Sclerosis Epilepsy Due To Cortical Dysplasia Epilepsy Due To Neuronal Migration Disorders
Myopathy With Extrapyramidal Signs	Proximal Myopathy With Extrapyramidal Signs MPXPS Myopathy, With Extrapyramidal Signs
Syndromic X-Linked Intellectual Disability Hedera Type	Mental Retardation, X-Linked, Syndromic, Hedera Type Mrxe Mrxsh
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp	Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer'S Cramp Syndrome EPRPDC Re-Ped-Wc Epilepsy, Rolandic, With Proxysmal Exercise-Induce Dystonia And Writer'S Cramp Epilepsy, Rolandic, With Paroxysmal Exercise-Induce Dystonia And Writer'S Cramp Rolandic Epilepsy With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp Rolandic-Type Focal Motor Epilepsy And Exercise-Induced Dystonia Rolandic Epilepsy Exercise-Induced Dystonia Epilepsy, Rolandic With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Verbal Auditory Agnosia
Speech And Communication Disorders	Language Disorder Communication Disorder Language Disorders Communication Disorders Speech Language Disorder Speech-Language Disorder Communication Impairment Speech And Language Disorder
Milker'S Nodule	Poxviridae Infections Milker Nodule Milkers' Node Paravaccinia Pseudocowpox Milker'S Nodes
Klippel-Feil Syndrome 4
Developmental And Epileptic Encephalopathy 9	Efmr Epileptic Encephalopathy, Early Infantile, 9 Eiee9 DEE9 Juberg-Hellman Syndrome Epilepsy, Female-Restricted, With Mental Retardation Developmental And Epileptic Encephalopathy, 9 Early Infantile Epileptic Encephalopathy 9 Early Infantile Female-Limited Epilecptic Encephalopathy Female Restricted Epilepsy With Mental Retardation Juberg Hellman Syndrome Pcdh19-Related Female-Limited Epilepsy Epilepsy And Intellectual Disability Limited To Females Epilepsy, Female Restricted, With Intellectual Disability Familial Epilepsy And Intellectual Disability Limited To Females Female Restricted Epilepsy With Intellectual Delays Pcdh19-Related Fle Pcdh19-Related Infantile Epileptic Encephalopathy Female Restricted Epilepsy With Intellectual Disability Encephalopathy, Epileptic, Early Infantile, Type 9
Landau-Kleffner Syndrome	Acquired Epileptic Aphasia Lks Acquired Aphasia With Convulsive Disorder Acquired Epileptiform Aphasia Landau Kleffner Syndrome Childhood Epileptic Aphasia
Developmental And Epileptic Encephalopathy 94	Epileptic Encephalopathy, Childhood-Onset Eeoc DEE94 Childhood Onset Epileptic Encephalopathy Encephalopathy, Epileptic, Childhood-Onset
Otomycosis	Singapore Ear
Campylobacteriosis	Campylobacter Infections Campylobacter Infection Enteric Campylobacteriosis
Childhood Electroclinical Syndrome
Speech Disorder	Speech Disorders
Specific Language Impairment	Language Impairment, Specific
Periventricular Nodular Heterotopia	Periventricular Heterotopia Pvnh Familial Nodular Heterotopia Heterotopia, Periventricular Periventricular Heterotopia, X-Linked
Early Infantile Epileptic Encephalopathy	Early Infantile Epileptic Encephalopathy With Burst-Suppression Early Infantile Epileptic Encephalopathy With Suppression Bursts Eiee Early Infantile Epileptic Encephalopathy With Suppression-Bursts Ohtahara Syndrome Encephalopathy, Epileptic, Early Infantile

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13783	SRPX2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17995	Srpx2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24466	Srpx2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	SRPX2	RGD	RGD:1562444
Canis familiaris	SRPX2	VGNC	VGNC:54668
Mus musculus	SRPX2	MGD	MGI:1916042
Others	SRPX2	NCBI