SRGAP2 - SLIT-ROBO Rho GTPase activating protein 2 Gene

中文名称：SLIT-ROBO Rho GTPase 激活蛋白 2

种属: Homo sapiens

同用名: FNBP2; SRGAP3; SRGAP2A; ARHGAP34

基因 ID: 23380 | 基因类型: protein coding

关于 SRGAP2

Cytogenetic location: 1q32.1 Genomic coordinates (GRCh38): 1:206,203,541-206,464,436 (from NCBI)

This gene has 16 transcripts (splice variants), 221 orthologues and 5 paralogues. Ubiquitous expression in skin (RPKM 12.4), spleen (RPKM 10.1) and 23 other tissues.

功能概要

该基因座编码 SLIT-ROBO Rho GTPase 激活蛋白家族的成员。编码的蛋白质刺激 Rac1 的 GTPase 活性，并在皮层神经元发育中发挥作用。该基因座在人类 1 号染色体上有几个由片段复制引起的旁系同源物。虽然这个基因座本身在不同物种中是保守的，但旁系同源物仅存在于人属中，而不存在于非人类类人猿的基因组中。已经针对该基因座描述了选择性剪接的转录物变体。[RefSeq 提供，2014 年 7 月]

This locus encodes a member of the SLIT-ROBO Rho GTPase activating protein family. The encoded protein stimulates GTPase activity of Rac1, and plays a role in cortical neuron development. This locus has several paralogs on human chromosome 1 resulting from segmental duplication. While this locus itself is conserved among various species, the paralogs are found only in the genus Homo, and not in the genomes of non-human great apes. Alternatively spliced transcript variants have been described for this locus. [provided by RefSeq, Jul 2014]

SRGAP2 基因产物(7)

mRNA	Protein	Name
NM_001170637.4	NP_001164108.1	SLIT-ROBO Rho GTPase-activating protein 2 isoform c
NM_001300952.2	NP_001287881.1	SLIT-ROBO Rho GTPase-activating protein 2 isoform d
NM_001377444.1	NP_001364373.1	SLIT-ROBO Rho GTPase-activating protein 2 isoform e
NM_001377445.1	NP_001364374.1	SLIT-ROBO Rho GTPase-activating protein 2 isoform f
NM_001377446.1	NP_001364375.1	SLIT-ROBO Rho GTPase-activating protein 2 isoform g
NM_001377447.1	NP_001364376.1	SLIT-ROBO Rho GTPase-activating protein 2 isoform h
NM_015326.5	NP_056141.2	SLIT-ROBO Rho GTPase-activating protein 2 isoform a

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 GTPase activator activity	IDA IDA: 通过直接分析推断	21148482	GOA
enables GTPase activator activity	IMP IMP: 通过突变表型推断	20810653	GOA
enables identical protein binding	IPI IPI: 通过物理相互作用推断	20810653	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	15161933	GOA
enables protein homodimerization activity	IDA IDA: 通过直接分析推断	20810653	GOA
enables small GTPase binding	IDA IDA: 通过直接分析推断	20810653	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in actin filament severing	IDA IDA: 通过直接分析推断	21148482	GOA
involved in dendritic spine development	IDA IDA: 通过直接分析推断	22559944	GOA
involved in excitatory synapse assembly	IDA IDA: 通过直接分析推断	27373832	GOA
involved in filopodium assembly	IDA IDA: 通过直接分析推断	22559944	GOA
involved in inhibitory synapse assembly	IDA IDA: 通过直接分析推断	27373832	GOA
involved in lamellipodium assembly involved in ameboidal cell migration	IMP IMP: 通过突变表型推断	20810653	GOA
involved in negative regulation of neuron migration	IDA IDA: 通过直接分析推断	22559944	GOA
involved in positive regulation of GTPase activity	IDA IDA: 通过直接分析推断	21148482	GOA
involved in positive regulation of GTPase activity	IMP IMP: 通过突变表型推断	20810653	GOA
involved in substrate adhesion-dependent cell spreading	IMP IMP: 通过突变表型推断	20810653	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in dendritic spine head	IDA IDA: 通过直接分析推断	22559944	GOA
located in lamellipodium	IDA IDA: 通过直接分析推断	20810653	GOA
located in plasma membrane	IDA IDA: 通过直接分析推断	21148482	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

蛋白主名

其他名称

SLIT-ROBO Rho GTPase-activating protein 2

SLIT-ROBO GAP2

SRGAP2 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	SRGAP2	O75044	SRGAP2	Homo sapiens	O75044	Anti Tag CoIP	20810653
种属内	SRGAP2	O75044	SRGAP2	Homo sapiens	O75044	X-Ray Diffraction	26365803
种属内	SRGAP2	O75044	SRGAP2	Homo sapiens	O75044	Crosslink	26365803
种属内	SRGAP2	O75044	YWHAG	Homo sapiens	P61981	CoIP	15324660
种属内	SRGAP2	O75044	SRGAP2	Homo sapiens	O75044	SLS	26365803
种属内	SRGAP2	O75044	SRGAP2	Homo sapiens	O75044	GMS	26365803
种属内	SRGAP2	O75044	YWHAZ	Homo sapiens	P63104	Pull Down	15161933
种属内	SRGAP2	O75044	PRMT5	Homo sapiens	O14744	Methyltransferase Ass	20810653
种属内	SRGAP2	O75044	PRMT5	Homo sapiens	O14744	Anti Bait CoIP	20810653
种属内	SRGAP2	O75044	ROBO1	Homo sapiens	Q9Y6N7	SPR	26365803
种属内	SRGAP2	O75044	ROBO1	Homo sapiens	Q9Y6N7	MST	26365803
种属内	SRGAP2	O75044	HTT	Homo sapiens	P42858	Y2H	17500595
种属内	SRGAP2	O75044	FASLG	Homo sapiens	P48023	Phage Display	19807924
种属内	SRGAP2	O75044	FASLG	Homo sapiens	P48023	Pull Down	16318909
种属内	SRGAP2	O75044	FMNL1	Homo sapiens	O95466	Anti Bait CoIP	21148482
种属内	SRGAP2	O75044	FMNL1	Homo sapiens	O95466	Pull Down	21148482
种属间	SRGAP2	O75044	Fmnl3	Mus musculus	Q6ZPF4	Y2H	21148482

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

Non-Specific Early-Onset Epileptic Encephalopathy

Undetermined Early-Onset Epileptic Encephalopathy	Non-Specific Eoee
Undetermined Eoee

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

Chromosome 3pter-P25 Deletion Syndrome

3p- Syndrome	3p Deletion Syndrome
Distal Monosomy 3p	Chromosome 3, Monosomy 3p
3p Partial Monosomy Syndrome	Chromosome 3, Deletion 3p
Chromosome 3p Deletion Syndrome	Del Syndrome
Deletion 3p	Monosomy 3p
Partial Monosomy 3p	Distal 3p Deletion
Monosomy 3pter	Telomeric Monosomy 3p
Chromosome Deletion Syndrome 3pter-P25

Lissencephaly 5

LIS5	Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Cobblestone Lissencephaly Without Muscular Or Eye Involvement	Lissencephaly Type 2 Without Muscular Or Eye Involvement
Lissencephaly Type 2 Without Muscular Or Ocular Involvement	Lissencephaly, Type 5

Avoidant Personality Disorder

Anxious Personality Disorder

Personality Disorders

Pilomyxoid Astrocytoma

Retinitis Pigmentosa 23

RP23	Retinitis Pigmentosa-23
Retinitis Pigmentosa, Type 23	Rp23 Gene

Fibrillary Astrocytoma

Fibrillary Astrocytic Tumors	Diffuse Astrocytoma
Gemistocytic Astrocytoma	Protoplasmic Astrocytoma

Childhood Pilocytic Astrocytoma

Pediatric Pilocytic Astrocytoma

West Syndrome

Infantile Spasms	Infantile Spasms Syndrome
Infantile Spasm	X-Linked Infantile Spasm Syndrome
X-Linked Infantile Spasms	Epileptic Encephalopathy, Early Infantile, 1
Is	Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg
West'S Syndrome	Spasms, Infantile
Is -[Infantile Spasm]	Salaam Spasm
Salaam Tic

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS13763	SRGAP2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否
HY-RS13764	SRGAP2C Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Felis catus	SRGAP2	VGNC	VGNC:107944
Macaca mulatta	SRGAP2	VGNC	VGNC:99699
Rattus norvegicus	SRGAP2	RGD	RGD:1566016
Bos taurus	SRGAP2	VGNC	VGNC:108505
Mus musculus	SRGAP2	MGD	MGI:109605

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