CD2AP - CD2 associated protein Gene

中文名称：CD2 相关蛋白

种属: Homo sapiens

同用名: CMS

基因 ID: 23607 | 基因类型: protein coding

关于 CD2AP

Cytogenetic location: 6p12.3 Genomic coordinates (GRCh38): 6:47,477,789-47,627,263 (from NCBI)

This gene has 5 transcripts (splice variants), 209 orthologues, 3 paralogues and is associated with 2 phenotypes. Ubiquitous expression in small intestine (RPKM 31.9), duodenum (RPKM 29.7) and 25 other tissues.

功能概要

该基因编码调节肌动蛋白细胞骨架的支架分子。该蛋白质通过多个肌动蛋白结合位点、SH3 结构域和包含 SH3 结构域结合位点的富含脯氨酸的区域直接与丝状肌动蛋白和多种细胞膜蛋白相互作用。细胞质蛋白定位于膜褶皱、脂筏和细胞前缘。它与受体内吞作用和胞质分裂过程中发生的动态肌动蛋白重塑和膜运输有关。该基因的单倍体不足与肾小球疾病的易感性有关。[RefSeq 提供，2008 年 7 月]

This gene encodes a scaffolding molecule that regulates the actin Cytoskeleton. The protein directly interacts with filamentous actin and a variety of cell membrane proteins through multiple actin binding sites, SH3 domains, and a proline-rich region containing binding sites for SH3 domains. The cytoplasmic protein localizes to membrane ruffles, lipid rafts, and the leading edges of cells. It is implicated in dynamic actin remodeling and membrane trafficking that occurs during receptor endocytosis and cytokinesis. Haploinsufficiency of this gene is implicated in susceptibility to glomerular disease. [provided by RefSeq, Jul 2008]

CD2AP 基因产物(1)

mRNA	Protein	Name
NM_012120.3	NP_036252.1	CD2-associated protein

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 SH3 domain binding	IPI IPI: 通过物理相互作用推断	10339567	GOA
enables identical protein binding	IPI IPI: 通过物理相互作用推断	17020880	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	10339567	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in actin filament organization	IMP IMP: 通过突变表型推断	22891260	GOA
involved in negative regulation of small GTPase mediated signal transduction	IMP IMP: 通过突变表型推断	22891260	GOA
involved in positive regulation of protein secretion	IMP IMP: 通过突变表型推断	27044754	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of filamentous actin	IDA IDA: 通过直接分析推断	10339567	GOA
located in ruffle	IDA IDA: 通过直接分析推断	10339567	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

CD2AP 蛋白结构

SH3_9

SH3_1

0
100
200
300
400
500
600
639 a.a.

蛋白主名

其他名称

CD2-associated protein

Cas ligand with multiple Src homology (SH) 3 domains

CD2AP 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	CD2AP	Q9Y5K6	RIN3	Homo sapiens	Q8TB24	Y2H	32552912
种属内	CD2AP	Q9Y5K6	BLNK	Homo sapiens	Q8WV28	Pull Down	21822214
种属内	CD2AP	Q9Y5K6	IQGAP1	Homo sapiens	P46940	Anti Bait CoIP	22662192
种属内	CD2AP	Q9Y5K6	CBLB	Homo sapiens	Q13191	Anti Tag CoIP	17020880
种属内	CD2AP	Q9Y5K6	CBL	Homo sapiens	P22681	Anti Tag CoIP	17020880
种属内	CD2AP	Q9Y5K6	CD2	Homo sapiens	P06729	NMR	23663663
种属内	CD2AP	Q9Y5K6	CBL	Homo sapiens	P22681	CoIP	11067845
种属内	CD2AP	Q9Y5K6	CD2	Homo sapiens	P06729	SPR	9741631
种属内	CD2AP	Q9Y5K6	CBLB	Homo sapiens	Q13191	ITC	23663663
种属内	CD2AP	Q9Y5K6	CD2	Homo sapiens	P06729	ITC	23663663
种属内	CD2AP	Q9Y5K6	PDCD6IP	Homo sapiens	Q8WUM4	Y2H Fragment Pooling	31413325
种属内	CD2AP	Q9Y5K6	SH3KBP1	Homo sapiens	Q96B97	Y2H Fragment Pooling	31413325
种属内	CD2AP	Q9Y5K6	TSG101	Homo sapiens	Q99816	Anti Tag CoIP	17853893
种属内	CD2AP	Q9Y5K6	FYN	Homo sapiens	P06241	Y2H Fragment Pooling	31413325
种属内	CD2AP	Q9Y5K6	CBLB	Homo sapiens	Q13191	NMR	23663663

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

Focal Segmental Glomerulosclerosis 3

FSGS3	Focal Segmental Glomerulosclerosis 3, Susceptibility To
Glomerulosclerosis, Focal Segmental, 3	Glomerulosclerosis, Focal Segmental, 3, Susceptibility To
Glomerulosclerosis, Segmental, Focal, Type 3, Susceptibility To

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

Glomerular Disease

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

End Stage Renal Disease

End Stage Renal Failure	End-Stage Kidney Disease
Kidney Failure, Chronic	Chronic Kidney Disease Stage 5

Lipoid Nephrosis

Minimal Change Disease	Minimal Change Glomerulonephritis
Nephrotic Syndrome With Lesion Of Minimal Change Glomerulonephritis	Nephrotic Syndrome With Lesion Of Minimal Change Nephrotic Syndrome
Idiopathic Minimal Change Nephrotic Syndrome	Mcns
Minimal Change Glomerulopathy	Minimal Change Nephrotic Syndrome
Nephrotic Syndrome Minimal Change	Nephrosis, Lipoid
Glomerulonephritis, Minimal Change	Nephrotic Syndrome, Minimal Change

Membranous Nephropathy

Membranous Glomerulonephritis	Glomerulonephritis, Membranous
Idiopathic Membranous Nephropathy	Idiopathic Membranous Glomerulonephritis
MBNP	Membranous Nephropathy, Susceptibility To
Extramembranous Glomerulonephritis	Mgn
Membranous Gn	Primary Membranous Glomerulonephritis
Primary Membranous Nephropathy	Nephropathy Membranous

Frasier Syndrome

Nephrotic Syndrome

Finnish Congenital Nephrotic Syndrome	Ns - [Nephrotic Syndrome]
Nephrosis Syndrome	Nephrosis Nos
Glomerular Lesion Nephrosis

Nephrotic Syndrome, Type 1

Finnish Congenital Nephrosis	NPHS1
Cnf	Finnish Congenital Nephrotic Syndrome
Nephrotic Syndrome Type 1	Nephrosis, Congenital
Congenital Nephrotic Syndrome	Nephrotic Syndrome, Congenital
Congenital Nephrotic Syndrome Finnish Type	Congenital Nephrotic Syndrome 1
Nephrosis 1, Congenital, Finnish Type	Congenital Nephrotic Syndrome, Finnish Type
Nephrotic Syndrome 1	Congenital Nephrotic Syndrome Of The Finnish Type

Nail-Patella Syndrome

Turner-Kieser Syndrome	Onychoosteodysplasia
Fong Disease	NPS
Hereditary Onycho-Osteodysplasia	Nps1
Hereditary Onychoostedysplasia	Iliac Horn Syndrome
Nail Patella Syndrome	Turner-Kiser Syndrome
Arthro-Onychodysplasia	Nps 1
Osteo-Onychodysplasia	Hereditary Osteo-Onychodysplasia
Osterreicher Syndrome	Pelvic Horn Syndrome
Österreicher-Turner Syndrome	Nps - [Nail-Patella Syndrome]
Hood - [Hereditary Onycho-Osteodysplasia] Syndrome

Denys-Drash Syndrome

Drash Syndrome	DDS
Nephropathy, Wilms Tumor, And Genital Anomalies	Wilms Tumor And Pseudohermaphroditism
Wilms Tumor And Pseudo- Or True Hermaphroditism	Nephropathy Associated With Male Pseudohermaphroditism And Wilms' Tumor
Pseudohermaphroditism, Nephron Disorder And Wilms' Tumor	Wilms Tumor-Dsd Syndrome
Wilms Tumor-Disorder Of Sex Development Syndrome

Familial Nephrotic Syndrome

Congenital Nephrotic Syndrome	Nephrosis, Congenital
Finnish Congenital Nephrotic Syndrome

Focal Segmental Glomerulosclerosis 2

FSGS2	Glomerulosclerosis, Focal Segmental, 2
Glomerulosclerosis, Segmental, Focal, Type 2

Chikungunya

Chikungunya Fever	Arbovirus A Chikungunya Type
Chik	Chikv Infection
Ck	Chikungunya Virus Infection
Chikungunya Haemorrhagic Fever	Chikungunya Viral Disease
Chikungunya Mosquito-Borne Viral Fever

Kidney Disease

Renal Failure	Kidney Failure
Kidney Diseases	Nephropathy
Abnormality Of The Kidney	Impaired Renal Function Disease
Renal Anomaly	Kidney Dysfunction
Renal Disease	Nephropathies
Renal Failure Adverse Event	Abnormal Renal Function

Iga Glomerulonephritis

Iga Nephropathy	Glomerulonephritis, Iga
Berger'S Iga Or Igg Nephropathy	Focal Glomerulonephritis
Primary Iga Nephropathy	Segmental Glomerulonephritis
Berger Disease	Berger'S Disease
Igan	Nephritis, Iga Type
Nephropathy Iga	Glomerulonephritis Focal
Iga Nephropathy, Susceptibility To	Primary Immunoglobulin A Nephropathy

Focal Segmental Glomerulosclerosis 5

FSGS5	Glomerulosclerosis, Focal Segmental, 5
Glomerulosclerosis, Segmental, Focal, Type 5

Focal Segmental Glomerulosclerosis 6

FSGS6	Glomerulosclerosis, Focal Segmental, 6
Glomerulosclerosis, Segmental, Focal, Type 6

Pierson Syndrome

Microcoria-Congenital Nephrotic Syndrome	Microcoria-Congenital Nephrosis Syndrome
PIERS	Microcoria - Congenital Nephrosis
Microcoria - Congenital Nephrotic Syndrome	PIERSS

Alzheimer Disease 4

AD4	Alzheimer Disease-4
Alzheimer'S Disease 4	Alzheimer Disease, Familial, 4
Alzheimer Disease, Familial4	Alzheimer'S Disease 4, Early Onset
Alzheimer Disease, Type 4

Oligomeganephronia

Oligomeganephronic Renal Hypoplasia

Oligomeganephronic Hypoplasia Of Kidney

Hematuria, Benign Familial

Benign Familial Hematuria	BFH
Thin Membrane Nephropathy	Tmn
Thin Basement Membrane Nephropathy	Thin-Basement-Membrane Nephropathy
Hematuria, Familial Benign	Hematuria Benign Familial
Hematuria, Benign, Familial	Thin Basement Membrane Disease

Autosomal Recessive Alport Syndrome

Alport Syndrome, Recessive Type	Alport Syndrome, Autosomal Recessive
Alport Syndrome Autosomal Recessive	Alport Syndrome Recessive Type
Nephropathy And Deafness

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

Galloway-Mowat Syndrome

Galloway Mowat Syndrome	Galloway Syndrome
Hiatal Hernia-Microcephaly-Nephrosis, Galloway Type	Microcephaly Nephrosis Syndrome
Microcephaly, Hiatal Hernia, And Nephrotic Syndrome	Nephrosis Neuronal Dysmigration Syndrome
Microcephaly-Hiatus Hernia-Nephrotic Syndrome	Nephrosis-Neuronal Dysmigration Syndrome

Wilms Tumor 1

Nephroblastoma	Wilms Tumor
WT1	Wilms' Tumor
Bilateral Wilms Tumor	Wilms Tumor, Type 1
Wilms Tumor, Somatic	Adult Nephroblastoma
Wt1 Disorder	Renal Embryonic Tumor
Adult Kidney Wilms Tumor	Childhood Kidney Wilms Tumor
Nonanaplastic Kidney Wilms Tumor

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-RS02224	CD2AP Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Macaca mulatta	CD2AP	VGNC	VGNC:70709
Canis familiaris	CD2AP	VGNC	VGNC:38945
Rattus norvegicus	CD2AP	RGD	RGD:727803
Bos taurus	CD2AP	VGNC	VGNC:27022
Mus musculus	CD2AP	MGD	MGI:1330281
Felis catus	CD2AP	VGNC	VGNC:60605

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沪ICP备15051369号-4

上海工商

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沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

CD2AP - CD2 associated protein Gene

关于 CD2AP

功能概要

CD2AP 基因产物(1)

CD2AP 蛋白结构

CD2AP 蛋白互作信息

关联疾病

直系同源

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CD2AP - CD2 associated protein Gene

关于 CD2AP

功能概要

CD2AP 基因产物(1)

CD2AP 蛋白结构

CD2AP 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

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