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  2. ARHGAP24 - Rho GTPase activating protein 24 Gene

ARHGAP24 - Rho GTPase activating protein 24 Gene

中文名称:Rho GTP 酶激活蛋白 24

种属: Homo sapiens

同用名: p73; FILGAP; RCGAP72; RC-GAP72; p73RhoGAP

基因 ID: 83478 | 基因类型: protein coding

关于 ARHGAP24

Cytogenetic location: 4q21.23-q21.3 Genomic coordinates (GRCh38): 4:85,475,150-86,002,666 (from NCBI)

This gene has 12 transcripts (splice variants), 201 orthologues, 2 paralogues and is associated with 1 phenotype. Broad expression in kidney (RPKM 13.8), thyroid (RPKM 4.3) and 20 other tissues.

功能概要

该基因编码一种 Rho-GTPase 激活蛋白,它对小 GTPase 家族成员 Rac 具有特异性。细丝蛋白 A 与编码蛋白的结合将其靶向膜突出位点,并在此处拮抗 Rac。这导致抑制薄片形成和促进回缩以调节细胞极性。可变剪接导致多个转录本变体。[RefSeq 提供,2016 年 9 月]

This gene encodes a Rho-GTPase activating protein, which is specific for the small GTPase family member Rac. Binding of the encoded protein by filamin A targets it to sites of membrane protrusion, where it antognizes Rac. This results in suppression of lamellae formation and promotion of retraction to regulate cell polarity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]

ARHGAP24 基因产物(5)

mRNA Protein Name
NM_001025616.3 NP_001020787.2 rho GTPase-activating protein 24 isoform 1
NM_001042669.2 NP_001036134.1 rho GTPase-activating protein 24 isoform 3
NM_001287805.2 NP_001274734.1 rho GTPase-activating protein 24 isoform 4
NM_001346093.2 NP_001333022.1 rho GTPase-activating protein 24 isoform 5
NM_031305.3 NP_112595.2 rho GTPase-activating protein 24 isoform 2
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
16862148 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

ARHGAP24 蛋白结构

PH

PH: PH domain (21 - 123)

RhoGAP

RhoGAP: RhoGAP domain (153 - 301)

  • 0
  • 200
  • 400
  • 600
  • 748 a.a.
蛋白主名 其他名称

rho GTPase-activating protein 24

RAC1- and CDC42-specific GTPase-activating protein of 72 kDa

ARHGAP24 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
ARHGAP24 Q8N264 FLNA Homo sapiens P21333 16862148
种属内
ARHGAP24 Q8N264 FLNA Homo sapiens P21333
Y2H
16862148
种属内
ARHGAP24 Q8N264 FLNA Homo sapiens P21333 16862148
种属内
ARHGAP24 Q8N264 FLNA Homo sapiens P21333
IF
16862148
种属内
ARHGAP24 Q8N264 HTT Homo sapiens P42858
Y2H
17500595
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
Genetic Steroid-Resistant Nephrotic Syndrome

Familial Idiopathic Steroid-Resistant Nephrotic Syndrome

Genetic Srns

Hereditary Steroid-Resistant Nephrotic Syndrome

Familial Idiopathic Nephrotic Syndrome

Nephrotic Syndrome, Steroid-Resistant, Autosomal Recessive

Srn1

Tarp Syndrome

TARPS

Pierre Robin Syndrome With Congenital Heart Malformation And Clubfoot

Pierre Robin Sequence-Congenital Heart Defect-Talipes Syndrome

Pierre Robin Syndrome-Congenital Heart Defect-Talipes Syndrome

Talipes Equinovarus-Atrial Septal Defect-Robin Sequence-Persistence Of The Left Superior Vena Cava Syndrome

Talipes Equinovarus, Atrial Septal Defect, Robin Sequence, And Persistence Of Left Superior Vena Cava

Pierre Robin Sequence - Congenital Heart Defect - Talipes

Pierre Robin Syndrome - Congenital Heart Defect - Talipes

Talipes Equinovarus - Atrial Septal Defect - Robin Sequence - Persistence Of The Left Superior Vena Cava

Talipes Equinovarus Atrial Septal Defect Robin Sequence And Persistence Of Left Superior Vena Cava

Melnick-Needles Syndrome

MNS

Melnick-Needles Osteodysplasty

Osteodysplasty Of Melnick And Needles

Osteochondrodysplasias

Frasier Syndrome

FS

Nephrotic Syndrome

Finnish Congenital Nephrotic Syndrome

Ns - [Nephrotic Syndrome]

Nephrosis Syndrome

Nephrosis Nos

Glomerular Lesion Nephrosis

Alport Syndrome

Hereditary Nephritis

Alport Syndrome, X-Linked

Hemorrhagic Hereditary Nephritis

Congenital Hereditary Hematuria

Hemorrhagic Familial Nephritis

Familial Nephritis

Thin Basement Membrane Disease

Thin Basement Membrane Nephropathy

Hematuria-Nephropathy-Deafness Syndrome

Hematuric Hereditary Nephritis

Hereditary Familial Congenital Hemorrhagic Nephritis

Hereditary Hematuria Syndrome

Hereditary Interstitial Pyelonephritis

Alport Deafness-Nephropathy

Alport Hearing Loss-Nephropathy

Alports Syndrome

Nephritis, Hereditary

Periventricular Nodular Heterotopia

Periventricular Heterotopia

Pvnh

Familial Nodular Heterotopia

Heterotopia, Periventricular

Periventricular Heterotopia, X-Linked

Focal Segmental Glomerulosclerosis

Familial Idiopathic Steroid-Resistant Nephrotic Syndrome

Focal Glomerulosclerosis

Fsgs

Segmental Glomerulosclerosis

Glomerulosclerosis, Focal Segmental

Fgs

Focal Glomerular Sclerosis

Familial Idiopathic Nephrotic Syndrome

Focal Sclerosis With Hyalinosis

Glomerulosclerosis, Focal

Glomerulosclerosis Focal

Glomerulosclerosis, Segmental, Focal

Focal Segmental Glomerulosclerosis, Not Otherwise Specified

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

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta ARHGAP24 VGNC VGNC:69904
Mus musculus ARHGAP24 MGD MGI:1922647
Rattus norvegicus ARHGAP24 RGD RGD:1306669
Canis familiaris ARHGAP24 VGNC VGNC:38053
Bos taurus ARHGAP24 VGNC VGNC:26082
Felis catus ARHGAP24 VGNC VGNC:59881