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Sh3gl1 Gene Detail
Summary
  • Symbol
    Sh3gl1
  • Name
    SH3-domain GRB2-like 1
  • Synonyms
    EEN, endophilin A2, endophilin II, Sh3d2b, SH3P8
  • Feature Type
    protein coding gene
  • IDs
    MGI:700010
    NCBI Gene: 20405
  • Alliance
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr17:56323750-56343635 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 17, 29.11 cM
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    96 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_700010
protein coding gene Chr17:56323750-56343659 (-)
129S1/SvImJ MGP_129S1SvImJ_G0023908
protein coding gene Chr17:57641812-57664402 (-)
A/J MGP_AJ_G0023868
protein coding gene Chr17:56088429-56109498 (-)
AKR/J MGP_AKRJ_G0023837
protein coding gene Chr17:56774213-56794097 (-)
BALB/cJ MGP_BALBcJ_G0023869
protein coding gene Chr17:55923541-55945111 (-)
C3H/HeJ MGP_C3HHeJ_G0023632
protein coding gene Chr17:57481784-57501668 (-)
C57BL/6NJ MGP_C57BL6NJ_G0024313
protein coding gene Chr17:59925950-59945834 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0021760
protein coding gene Chr17:52606300-52626561 (-)
CAST/EiJ MGP_CASTEiJ_G0023115
protein coding gene Chr17:57786149-57812479 (-)
CBA/J MGP_CBAJ_G0023609
protein coding gene Chr17:62231531-62254750 (-)
DBA/2J MGP_DBA2J_G0023737
protein coding gene Chr17:54823159-54843043 (-)
FVB/NJ MGP_FVBNJ_G0023703
protein coding gene Chr17:54340298-54360841 (-)
LP/J MGP_LPJ_G0023817
protein coding gene Chr17:58364553-58384433 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0023730
protein coding gene Chr17:61791742-61811633 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0024358
protein coding gene Chr17:57148518-57168402 (-)
PWK/PhJ MGP_PWKPhJ_G0022860
protein coding gene Chr17:54165402-54185417 (-)
SPRET/EiJ MGP_SPRETEiJ_G0022672
protein coding gene Chr17:53914758-53934636 (-)
WSB/EiJ MGP_WSBEiJ_G0023179
protein coding gene Chr17:57762057-57781937 (-)



Homology
more
  • Human Ortholog
    SH3GL1, SH3 domain containing GRB2 like 1, endophilin A2
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SH3GL1, SH3 domain containing GRB2 like 1, endophilin A2
  • Synonyms
    CNSA1, EEN, SH3D2B, SH3P8
  • Links
    NCBI Gene ID: 6455
    neXtProt AC: NX_Q99961
    UniProt: Q99961

  • Chr Location
    19p13.3; chr19:4360370-4400547 (-)  GRCh38

Human Diseases
more
  • Diseases
    2 with human SH3GL1 associations

Human Disease Mouse Models
      
IDs
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
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  • Phenotype Summary
    1 phenotype from 1 allele in 1 genetic background
    25 phenotypes from multigenic genotypes
    22 phenotype references
Mice homozygous for a knock-out allele exhibit normal life span and no obvious phenotypic defects. Mice homozygous for knock-out alleles of Sh3gl1-3 exhibit neonatal lethality, respiratory distress, absence of gastric milk, abnormal synaptic transmissionand abnormal synaptic vesicle recycling.
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
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000003200 Ensembl Gene Model | MGI Sequence Detail 19886 C57BL/6J ±  kb
transcript ENSMUST00000003268 Ensembl | MGI Sequence Detail 2073 Not Applicable  
polypeptide ENSMUSP00000003268 Ensembl | MGI Sequence Detail 368 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 14
    Genomic 1
    cDNA 13

    Microarray probesets 4
Other
Accession IDs
less
MGI:2147117
References
more
  • Summaries
    All 56
    Developmental Gene Expression 5
    Diseases 1
    Gene Ontology 7
    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:301279 Norin U, et al., Endophilin A2 deficiency protects rodents from autoimmune arthritis by modulating T cell activation. Nat Commun. 2021 Jan 27;12(1):610

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)
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Funding Information
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last database update
03/19/2024
MGI 6.23
The Jackson Laboratory