CD2AP - CD2 associated protein Gene

Homo sapiens

Also known as CMS

Gene ID: 23607 | Gene type: protein coding

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

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

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02224	CD2AP Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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