SRPX2 - sushi repeat containing protein X-linked 2 Gene

Homo sapiens

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

Gene ID: 27286 | Gene type: protein coding

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13783	SRPX2 Human Pre-designed siRNA Set A		/	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

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