Sh3gl3 Gene Detail

Summary

• Symbol
  Sh3gl3
• Name
  SH3-domain GRB2-like 3
• Synonyms
  EEN-B2, endophilin III, Sh3d2c, Sh3d2c2, SH3P13

• Feature Type
  protein coding gene
• IDs
  MGI:700011
  NCBI Gene: 20408
• Gene Overview
  MyGene.info: SH3GL3
• Alliance
  gene page

Location & Maps

• Sequence Map
  Chr7:82173840-82307419 bp, + strand
• From VEGA annotation of GRCm38
  

  Mouse Genome Browser
  
  

• Download
  Sequence
    133580 bp   ±  kb flank
  
  
• Genome Browsers
  VEGA | Ensembl | UCSC | NCBI

• Genetic Map
  Chromosome 7, 47.15 cM, cytoband D2-3
• Mapping Data
  7 experiments

Homology

• Human Ortholog
  SH3GL3, SH3 domain containing GRB2 like 3, endophilin A3

• Vertebrate Orthologs
  10

• Human Ortholog
  SH3GL3, SH3 domain containing GRB2 like 3, endophilin A3
  Orthology source: HomoloGene, HGNC
• Synonyms
  CNSA3, EEN-B2, HsT19371, SH3D2C, SH3P13
• Links
  HGNC:10832

  NCBI Gene ID: 6457

  neXtProt AC: NX_Q99963

  UniProt: Q99963

  
  
• Chr Location
  15q25.2; chr15:83447123-83618743 (+)  GRCh38.p7

---

• HomoloGene
  Vertebrate Homology Class 37723
  1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  
• HCOP
  human homology predictions: SH3GL3
• Gene Tree
  Sh3gl3
  

Mutations,
Alleles, and
Phenotypes

• Phenotype Summary
  1 phenotype from 1 allele in 1 genetic background
  12 phenotypes from multigenic genotypes
  17 phenotype references
  

• All Mutations and Alleles
  11
• Chemically induced (other)
  1
• Gene trapped
  6
• Radiation induced
  2
• Targeted
  2
• Genomic Mutations
  3 involving Sh3gl3
• Incidental Mutations
  CvDC
• Find Mice (IMSR)
  7 strains or lines available

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

• All GO Annotations
  11
• GO References
  6

• External Resources
  FuncBase

Expression

• Assay Results
  54
• Tissues
  52
• cDNA Data
  5
• Literature Summary
  1

Tissue x Stage Matrix

• Other Mouse Links
  Allen Institute
  GEO
  Expression Atlas
• Other Vertebrate Links
  ZFIN sh3gl3b

Interactions

• Sh3gl3 interacts with 244 markers (Mir1a-1, Mir1a-2, Mir1b, ...) View All

Sequences &
Gene Models

• All Sequences
  52
• RefSeq
  6
• UniProt
  7

• VEGA
  OTTMUSG00000042384 (Evidence)
• Ensembl
  ENSMUSG00000030638 (Evidence)
• NCBI Gene
  20408

Representative Sequences			Length	Strain/Species
genomic	OTTMUSG00000042384	VEGA Gene Model | MGI Sequence Detail	133580	C57BL/6J
transcript	OTTMUST00000111696	VEGA | MGI Sequence Detail	1647	Not Applicable
polypeptide	OTTMUSP00000062591	VEGA | MGI Sequence Detail	347	Not Applicable

Polymorphisms

• SNPs within 2kb
  1066 from dbSNP Build 142

• PCR
  1
• RFLP
  2

Protein
Information

• UniProt
  7 Sequences
• InterPro Domains
  IPR027267 AH/BAR domain superfamily
  IPR004148 BAR domain
  IPR028501 Endophilin-A
  IPR032469 Endophilin-A3, BAR domain
  IPR035824 Endophilin-A, SH3 domain
  IPR001452 SH3 domain

Molecular
Reagents

• All nucleic 7

  Genomic 1

  cDNA 5

  Primer pair 1

  
  

  Microarray probesets 3

References

• Summaries
  All 41

  Developmental Gene Expression 1

  Gene Ontology 6

  Phenotypes 17
• Earliest
  J:88307 Giometti CS, et al., The analysis of recessive lethal mutations in mice by using two-dimensional gel electrophoresis of liver proteins. Mutat Res. 1990 Sep;242(1):47-55
• Latest
  J:240727 Murdoch JD, et al., Endophilin-A Deficiency Induces the Foxo3a-Fbxo32 Network in the Brain and Causes Dysregulation of Autophagy and the Ubiquitin-Proteasome System. Cell Rep. 2016 Oct 18;17(4):1071-1086