2. Gene
  3. SRGAP2C - SLIT-ROBO Rho GTPase activating protein 2C Gene

SRGAP2C - SLIT-ROBO Rho GTPase activating protein 2C Gene

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

中文名称：SLIT-ROBO Rho GTP 酶激活蛋白 2C

种属: Homo sapiens

同用名: SRGAP2P1

基因 ID: 653464 | 基因类型: protein coding

关于 SRGAP2C

Cytogenetic location: 1p11.2 Genomic coordinates (GRCh38): 1:121,184,975-121,392,874 (from NCBI)

This gene has 5 transcripts (splice variants), 218 orthologues and 5 paralogues. Ubiquitous expression in skin (RPKM 12.8), spleen (RPKM 10.6) 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。这个人类特有的位点是由 SLIT-ROBO Rho GTPase 激活蛋白 2B 位点的片段重复引起的。与 SLIT-ROBO Rho GTPase 激活蛋白 2 编码的蛋白相比，所编码的蛋白缺少 GTPase 激活蛋白结构域，并且在皮层神经元发育过程中对这些蛋白起拮抗作用。[RefSeq 提供，2012 年 12 月]

This locus encodes a member of the SLIT-ROBO Rho GTPase activating protein family. This human-specific locus resulted from segmental duplication of the SLIT-ROBO Rho GTPase activating protein 2B locus. The encoded protein lacks the GTPase activating protein domain compared to proteins encoded by SLIT-ROBO Rho GTPase activating protein 2, and acts antagonistically to these proteins in cortical neuron development. [provided by RefSeq, Dec 2012]

SRGAP2C 基因产物(2)

mRNA Protein Name
NM_001271872.3 NP_001258801.1 SLIT-ROBO Rho GTPase-activating protein 2C isoform 2
NM_001329984.2 NP_001316913.1 SLIT-ROBO Rho GTPase-activating protein 2C isoform 1
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 protein heterodimerization activity IPI
IPI: 通过物理相互作用推断
22559944 GOA
enables protein homodimerization activity IPI
IPI: 通过物理相互作用推断
22559944 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cerebral cortex development IDA
IDA: 通过直接分析推断
27373832 GOA
involved in excitatory synapse assembly IDA
IDA: 通过直接分析推断
27373832 GOA
involved in extension of a leading process involved in cell motility in cerebral cortex radial glia guided migration 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 negative regulation of dendritic spine development IDA
IDA: 通过直接分析推断
22559944 GOA
involved in negative regulation of filopodium assembly IDA
IDA: 通过直接分析推断
22559944 GOA
involved in positive regulation of neuron migration IDA
IDA: 通过直接分析推断
22559944 GOA
involved in regulation of synapse assembly IDA
IDA: 通过直接分析推断
22559944 GOA
involved in regulation of synapse assembly IMP
IMP: 通过突变表型推断
22559944 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
is active in glutamatergic synapse IDA
IDA: 通过直接分析推断
22559944 GOA
is active in glutamatergic synapse IMP
IMP: 通过突变表型推断
22559944 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 2C

SLIT-ROBO Rho GTPase activating protein 2 pseudogene 1

关联疾病

疾病名称 别名
B-Lymphoblastic Leukemia/Lymphoma Mll Rearranged

B-Lymphoblastic Leukemia/Lymphoma Kmt2a Rearranged

B Lymphoblastic Leukemia/Lymphoma With T

Mll Rearranged

B-All Kmt2a Rearranged

B-Lymphoblastic Leukemia/Lymphoma With T

Kmt2a Rearranged
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
Chromosome 15q13.3 Deletion Syndrome

Chromosome 15q13.3 Microdeletion Syndrome

15q13.3 Microdeletion Syndrome

15q13.3 Microdeletion

Microdeletion 15q13.3 Syndrome

Del(15)(Q13.3)

Monosomy 15q13.3
Gestational Trophoblastic Neoplasm

Hydatidiform Mole

Molar Pregnancy

Gestational Trophoblastic Neoplasia

Gestational Trophoblastic Tumor

Gtn

Gestational Trophoblastic Disease

Gestational Trophoblastic Neoplasms

Hydatidiform Mole, Recurrent, 1

Hydatidiform Mole Benign

Trophoblastic Disease

Trophoblastic Disease Nos

Trophoblastic Disorder

Vesicular Mole Nos

Vesicular Mole

Hydatidiform Mole Nos
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
Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder
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-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
Mus musculus SRGAP2C MGD MGI:109605
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