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Sh3gl2 Gene Detail
Summary
  • Symbol
    Sh3gl2
  • Name
    SH3-domain GRB2-like 2
  • Synonyms
    9530001L19Rik, B930049H17Rik, EEN1, EEN-B1, endophilin A1, endophilin I, Sh3d2a
  • Feature Type
    protein coding gene
  • IDs
    MGI:700009
    NCBI Gene: 20404
  • Alliance
    gene page
  • Transcription Start Sites
    14 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:85123340-85307617 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 4, 40.23 cM
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1904 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    2
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_700009
 protein coding gene Chr4:85123340-85557432 (+)
129S1/SvImJ MGP_129S1SvImJ_G0028408
 protein coding gene Chr4:84887948-85351298 (+)
A/J MGP_AJ_G0028369
 protein coding gene Chr4:81932316-82358336 (+)
AKR/J MGP_AKRJ_G0028318
 protein coding gene Chr4:84028392-84477923 (+)
BALB/cJ MGP_BALBcJ_G0028389
 protein coding gene Chr4:82146520-82572391 (+)
C3H/HeJ MGP_C3HHeJ_G0028104
 protein coding gene Chr4:84661330-85109530 (+)
C57BL/6NJ MGP_C57BL6NJ_G0028828
 protein coding gene Chr4:88184985-88626567 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0026128
 protein coding gene Chr4:77845779-78251892 (+)
CAST/EiJ MGP_CASTEiJ_G0027545
 protein coding gene Chr4:82575700-83017197 (+)
CBA/J MGP_CBAJ_G0028073
 protein coding gene Chr4:90880003-91361508 (+)
DBA/2J MGP_DBA2J_G0028222
 protein coding gene Chr4:81718184-82136806 (+)
FVB/NJ MGP_FVBNJ_G0028188
 protein coding gene Chr4:80702561-81127333 (+)
LP/J MGP_LPJ_G0028322
 protein coding gene Chr4:85233067-85688797 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0028217
 protein coding gene Chr4:95982094-96450226 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0028865
 protein coding gene Chr4:84101009-84529883 (+)
PWK/PhJ MGP_PWKPhJ_G0027268
 protein coding gene Chr4:80057720-80490586 (+)
SPRET/EiJ MGP_SPRETEiJ_G0027093
 protein coding gene Chr4:81677387-82116129 (+)
WSB/EiJ MGP_WSBEiJ_G0027621
 protein coding gene Chr4:84284606-84724711 (+)



Homology
more
  • Human Ortholog
    SH3GL2, SH3 domain containing GRB2 like 2, endophilin A1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SH3GL2, SH3 domain containing GRB2 like 2, endophilin A1
  • Synonyms
    CNSA2, EEN-B1, SH3D2A, SH3P4
  • Links
    NCBI Gene ID: 6456
    neXtProt AC: NX_Q99962
    UniProt: Q99962

  • Chr Location
    9p22.2; chr9:17578954-17797129 (+)  GRCh38.p7
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    7 phenotypes from 2 alleles in 2 genetic backgrounds
    19 phenotypes from multigenic genotypes
    22 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Mice homozygous for a knock-out allele are normal and fertile. Mice homozygous for knock-out alleles of Sh3gl1-3 exhibit neonatal lethality, respiratory distress, absence of gastric milk, abnormal synaptic transmission and abnormal synaptic vesicle recycling.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    57
  • GO References
    14
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
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
non-membrane-bounded 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
    762
  • Tissues
    54
  • cDNA Data
    36
  • Literature Summary
    4
  • Comparison Matrix
    Gene Expression + Phenotype
    • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 20404 NCBI Gene Model | MGI Sequence Detail 184278 C57BL/6J ±  kb
    transcript NM_019535 RefSeq | MGI Sequence Detail 2837 C57BL/6  
    polypeptide Q62420 UniProt | EBI | MGI Sequence Detail 352 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 38
      cDNA 38

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGI:2140194, MGI:2140599, MGI:2441867, MGI:2445166
    References
    more
    • Summaries
      All 72
      Developmental Gene Expression 4
      Gene Ontology 14
      Phenotypes 22
    • Earliest
      J:35786 Sparks AB, et al., Cloning of ligand targets: systematic isolation of SH3 domain-containing proteins. Nat Biotechnol. 1996 Jun;14(6):741-4
    • Latest
      J:332132 Cattaneo P, et al., DOT1L regulates chamber-specific transcriptional networks during cardiogenesis and mediates postnatal cell cycle withdrawal. Nat Commun. 2022 Dec 2;13(1):7444
    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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    05/09/2023
    MGI 6.22     		The Jackson Laboratory