2. Gene
  3. SRPX2 - sushi repeat containing protein X-linked 2 Gene

SRPX2 - sushi repeat containing protein X-linked 2 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：含 Sushi 重复序列的 X 连锁蛋白 2

种属: Homo sapiens

同用名: BPP; CBPS; PMGX; RESDX; SRPUL

基因 ID: 27286 | 基因类型: protein coding

关于 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.

功能概要

该基因编码一种包含三个寿司重复基序的分泌蛋白。编码的蛋白质可能在大脑中言语和语言中心的发育中发挥作用。这种蛋白质也可能参与血管生成。该基因的突变是双侧外侧外侧多小脑回、rolandic 癫痫、言语障碍和认知障碍的原因。[RefSeq 提供，2010 年 5 月]

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 基因产物(1)

mRNA Protein Name
NM_014467.3 NP_055282.1 sushi repeat-containing protein SRPX2 precursor
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables hepatocyte growth factor binding IDA
IDA: 通过直接分析推断
22242148 GOA
enables identical protein binding IDA
IDA: 通过直接分析推断
24179158 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
18718938 GOA
enables signaling receptor binding IPI
IPI: 通过物理相互作用推断
18718938 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cell motility IDA
IDA: 通过直接分析推断
19065654 GOA
involved in cell-cell adhesion IDA
IDA: 通过直接分析推断
19065654 GOA
involved in positive regulation of synapse assembly IDA
IDA: 通过直接分析推断
24179158 GOA
involved in regulation of phosphorylation IDA
IDA: 通过直接分析推断
19065654 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
9864177 GOA
located in extracellular space IDA
IDA: 通过直接分析推断
9864177 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

SRPX2 蛋白结构

Sushi

Sushi: Sushi repeat (SCR repeat) (79 - 114)

Sushi

Sushi: Sushi repeat (SCR repeat) (122 - 176)

HYR

HYR: HYR domain (177 - 259)

Sushi

Sushi: Sushi repeat (SCR repeat) (264 - 319)

DUF4174

DUF4174: Domain of unknown function (DUF4174) (335 - 453)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 465 a.a.
蛋白主名 其他名称

sushi repeat-containing protein SRPX2

sushi-repeat protein up-regulated in leukemia

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS13783 SRPX2 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 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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