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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
  • Alliance
    gene page
  • Transcription Start Sites
    9 TSS
Location &
Maps
more
  • Sequence Map
    Chr17:43103842-43187556 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 17, 19.67 cM
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2224 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1330281
 protein coding gene Chr17:43059857-43187593 (-)
129S1/SvImJ MGP_129S1SvImJ_G0023770
 protein coding gene Chr17:43635104-43731196 (-)
A/J MGP_AJ_G0023728
 protein coding gene Chr17:42670288-42754402 (-)
AKR/J MGP_AKRJ_G0023699
 protein coding gene Chr17:42867140-42961778 (-)
BALB/cJ MGP_BALBcJ_G0023732
 protein coding gene Chr17:42558833-42623312 (-)
C3H/HeJ MGP_C3HHeJ_G0023496
 protein coding gene Chr17:43564913-43625817 (-)
C57BL/6NJ MGP_C57BL6NJ_G0024174
 protein coding gene Chr17:45571117-45671376 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0021625
 protein coding gene Chr17:39545264-39630385 (-)
CAST/EiJ MGP_CASTEiJ_G0022977
 protein coding gene Chr17:43574738-43667033 (-)
CBA/J MGP_CBAJ_G0023472
 protein coding gene Chr17:47198058-47299515 (-)
DBA/2J MGP_DBA2J_G0023598
 protein coding gene Chr17:41486453-41571100 (-)
FVB/NJ MGP_FVBNJ_G0023565
 protein coding gene Chr17:41043099-41127453 (-)
LP/J MGP_LPJ_G0023679
 protein coding gene Chr17:44287743-44373572 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0023594
 protein coding gene Chr17:46848475-46950081 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0024220
 protein coding gene Chr17:43192432-43286297 (-)
PWK/PhJ MGP_PWKPhJ_G0022722
 protein coding gene Chr17:40728219-40789410 (-)
SPRET/EiJ MGP_SPRETEiJ_G0022537
 protein coding gene Chr17:40103591-40191555 (-)
WSB/EiJ MGP_WSBEiJ_G0023042
 protein coding gene Chr17:43735610-43835831 (-)



Homology
more
  • Human Ortholog
    CD2AP, CD2 associated protein
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CD2AP, CD2 associated protein
  • Synonyms
    CMS
  • Links
    NCBI Gene ID: 23607
    neXtProt AC: NX_Q9Y5K6
    UniProt: Q9Y5K6

  • Chr Location
    6p12.3; chr6:47477789-47627263 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with Cd2ap mouse models; 2 with human CD2AP associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
 View 1 model
      
IDs
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
less
  • Phenotype Summary
    24 phenotypes from 3 alleles in 4 genetic backgrounds
    51 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.
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
less
  • All GO Annotations
    139
  • GO References
    36
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    1041
  • Tissues
    243
  • cDNA Data
    25
  • Literature Summary
    19
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000061665 Ensembl Gene Model | MGI Sequence Detail 83715 C57BL/6J ±  kb
    transcript ENSMUST00000024709 Ensembl | MGI Sequence Detail 5364 Not Applicable  
    polypeptide ENSMUSP00000024709 Ensembl | MGI Sequence Detail 637 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 27
      cDNA 26
      Primer pair 1

      Microarray probesets 8
    Other
    Accession IDs
    less
    MGI:1194922, MGI:2146959, MGI:2147127
    References
    more
    • Summaries
      All 114
      Developmental Gene Expression 19
      Diseases 1
      Gene Ontology 36
      Phenotypes 51
    • 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:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory