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Cd2ap Gene Detail
Summary
  • Symbol
    Cd2ap
  • Name
    CD2-associated protein
  • Synonyms
    Mets1, METS-1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1330281
    NCBI Gene: 12488
  • Gene Overview
    MyGene.info: CD2AP
Location & Maps
more
  • Sequence Map
    Chr17:42792951-42876424 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      83474 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 17, 19.67 cM
  • Mapping Data
    4 experiments
Homology
more
  • Human Ortholog
    CD2AP, CD2 associated protein
  • Vertebrate Orthologs
    10
  • Human Ortholog
    CD2AP, CD2 associated protein
    Orthology source: HomoloGene
  • Synonyms
    CMS
  • Links
    NCBI Gene ID: 23607
    neXtProt AC: NX_Q9Y5K6

  • Chr Location
    6p12; chr6:47477746-47627263 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 7663
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: CD2AP
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Cd2ap mouse models; 1 with human CD2AP associations

Human Disease Mouse Models
       Focal Segmental Glomerulosclerosis 3, Susceptibility To; FSGS3   OMIM: 607832 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    19 phenotypes from 1 allele in 2 genetic backgrounds
    28 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    27
  • Gene trapped
    24
  • Targeted
    3
  • Incidental Mutations
Homozygotes for a targeted null mutation exhibit impaired immune function and die at 6 to 7 weeks of age from kidney failure associated with podocyte defects and mesangial cell hyperplasia. Heterozygotes develop glomerular changes around 9 months.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000061665 Ensembl Gene Model | MGI Sequence Detail 83474 C57BL/6J ±  kb
transcript ENSMUST00000024709 Ensembl | MGI Sequence Detail 5399 Not Applicable  
polypeptide ENSMUSP00000024709 Ensembl | MGI Sequence Detail 637 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    579 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 23
    cDNA 22
    Primer pair 1

    Microarray probesets 8
Other
Accession IDs
less
MGI:1194922, MGI:2146959, MGI:2147127
References
more
  • Summaries
    All 74
    Developmental Gene Expression 14
    Diseases 1
    Gene Ontology 8
    Phenotypes 28
  • Earliest
    J:43777 Jansson S, et al., Mouse metanephric kidney as a model system for identifying developmentally regulated genes. J Cell Physiol. 1997 Nov;173(2):147-51
  • Latest
    J:228459 Schiffer M, et al., Pharmacological targeting of actin-dependent dynamin oligomerization ameliorates chronic kidney disease in diverse animal models. Nat Med. 2015 Jun;21(6):601-9

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/12/2016
MGI 6.04
The Jackson Laboratory