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Erc2 Gene Detail
Summary
  • Symbol
    Erc2
  • Name
    ELKS/RAB6-interacting/CAST family member 2
  • Synonyms
    CAST, D14Ertd171e, ELKS2alpha
  • Feature Type
    protein coding gene
  • IDs
    MGI:1098749
    NCBI Gene: 238988
  • Alliance
    gene page
  • Transcription Start Sites
    16 TSS
Location &
Maps
more
  • Sequence Map
    Chr14:27344385-28200494 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 14, 16.51 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    22063 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1098749
 protein coding gene Chr14:27344232-28200494 (+)
129S1/SvImJ MGP_129S1SvImJ_G0021094
 protein coding gene Chr14:20632647-21516139 (+)
A/J MGP_AJ_G0021042
 protein coding gene Chr14:19836024-20687629 (+)
AKR/J MGP_AKRJ_G0021019
 protein coding gene Chr14:20888407-21755862 (+)
BALB/cJ MGP_BALBcJ_G0021046
 protein coding gene Chr14:19945399-20793787 (+)
C3H/HeJ MGP_C3HHeJ_G0020829
 protein coding gene Chr14:20754321-21626343 (+)
C57BL/6NJ MGP_C57BL6NJ_G0021478
 protein coding gene Chr14:21495091-22394852 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0019041
 protein coding gene Chr14:19957204-20803933 (+)
CAST/EiJ MGP_CASTEiJ_G0020354
 protein coding gene Chr14:20399766-21307285 (+)
CBA/J MGP_CBAJ_G0020796
 protein coding gene Chr14:22357809-23279387 (+)
DBA/2J MGP_DBA2J_G0020918
 protein coding gene Chr14:19910664-20764234 (+)
FVB/NJ MGP_FVBNJ_G0020902
 protein coding gene Chr14:19873386-20715815 (+)
LP/J MGP_LPJ_G0020987
 protein coding gene Chr14:20958471-21827016 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0020928
 protein coding gene Chr14:21714957-22610767 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0021511
 protein coding gene Chr14:20666083-21533364 (+)
PWK/PhJ MGP_PWKPhJ_G0020102
 protein coding gene Chr14:19324486-20181476 (+)
SPRET/EiJ MGP_SPRETEiJ_G0019926
 protein coding gene Chr14:20165601-21067619 (+)
WSB/EiJ MGP_WSBEiJ_G0020409
 protein coding gene Chr14:20706782-21584985 (+)



Homology
more
  • Human Ortholog
    ERC2, ELKS/RAB6-interacting/CAST family member 2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ERC2, ELKS/RAB6-interacting/CAST family member 2
  • Synonyms
    CAST, CAST1, ELKSL, SPBC110, Spc110
  • Links
    NCBI Gene ID: 26059
    neXtProt AC: NX_O15083
    UniProt: O15083

  • Chr Location
    3p14.3; chr3:55508311-56469095 (-)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    16 phenotypes from 3 alleles in 4 genetic backgrounds
    30 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.
Mice homozygous for targeted disruptions of this gene are viable and fertile. However, homozygotes for one allele display abnormal CNS synaptic transmission. Homozygotes for a second allele display retinal abnormalities and impaired vision.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    35
  • GO References
    11
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
    988
  • Tissues
    65
  • cDNA Data
    15
  • Literature Summary
    13
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000040640 Ensembl Gene Model | MGI Sequence Detail 856110 C57BL/6J ±  kb
    transcript ENSMUST00000090302 Ensembl | MGI Sequence Detail 6083 Not Applicable  
    polypeptide ENSMUSP00000087773 Ensembl | MGI Sequence Detail 1002 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 18
      cDNA 15
      Primer pair 3

      Microarray probesets 3
    References
    more
    • Summaries
      All 68
      Developmental Gene Expression 13
      Gene Ontology 11
      Phenotypes 30
    • Earliest
      J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
    • Latest
      J:358058 Emperador-Melero J, et al., Distinct active zone protein machineries mediate Ca(2+) channel clustering and vesicle priming at hippocampal synapses. Nat Neurosci. 2024 Sep;27(9):1680-1694
    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
    12/17/2024
    MGI 6.24     		The Jackson Laboratory