CD2AP - CD2 associated protein Gene

Also Known as CMS

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 23607

About 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.

Summary

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 Products (1)

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables SH3 domain binding	IPI IPI: Inferred from physical interaction	10339567	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	17020880	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10339567	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in actin filament organization	IMP IMP: Inferred from mutant phenotype	22891260	GOA
involved in negative regulation of small GTPase mediated signal transduction	IMP IMP: Inferred from mutant phenotype	22891260	GOA
involved in positive regulation of protein secretion	IMP IMP: Inferred from mutant phenotype	27044754	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of filamentous actin	IDA IDA: Inferred from direct assay	10339567	GOA
located in ruffle	IDA IDA: Inferred from direct assay	10339567	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CD2AP Protein Structure

SH3_9

SH3_1

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

Protein Preferred Names	Protein Names
CD2-associated protein	Cas ligand with multiple Src homology (SH) 3 domains

CD2AP Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	CD2AP	Q9Y5K6	RIN3	Homo sapiens	Q8TB24	Y2H	32552912
Intra	CD2AP	Q9Y5K6	BLNK	Homo sapiens	Q8WV28	Pull Down	21822214
Intra	CD2AP	Q9Y5K6	IQGAP1	Homo sapiens	P46940	Anti Bait CoIP	22662192
Intra	CD2AP	Q9Y5K6	CBLB	Homo sapiens	Q13191	Anti Tag CoIP	17020880
Intra	CD2AP	Q9Y5K6	CBL	Homo sapiens	P22681	Anti Tag CoIP	17020880
Intra	CD2AP	Q9Y5K6	CD2	Homo sapiens	P06729	NMR	23663663
Intra	CD2AP	Q9Y5K6	CBL	Homo sapiens	P22681	CoIP	11067845
Intra	CD2AP	Q9Y5K6	CD2	Homo sapiens	P06729	SPR	9741631
Intra	CD2AP	Q9Y5K6	CBLB	Homo sapiens	Q13191	ITC	23663663
Intra	CD2AP	Q9Y5K6	CD2	Homo sapiens	P06729	ITC	23663663
Intra	CD2AP	Q9Y5K6	PDCD6IP	Homo sapiens	Q8WUM4	Y2H Fragment Pooling	31413325
Intra	CD2AP	Q9Y5K6	SH3KBP1	Homo sapiens	Q96B97	Y2H Fragment Pooling	31413325
Intra	CD2AP	Q9Y5K6	TSG101	Homo sapiens	Q99816	Anti Tag CoIP	17853893
Intra	CD2AP	Q9Y5K6	FYN	Homo sapiens	P06241	Y2H Fragment Pooling	31413325
Intra	CD2AP	Q9Y5K6	CBLB	Homo sapiens	Q13191	NMR	23663663

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
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	FS
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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02224	CD2AP Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21509	Cd2ap Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28027	Cd2ap Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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
Others	CD2AP	NCBI