Human Gene SH3GL2 (ENST00000380607.5_5) from GENCODE V47lift37
  Description: SH3 domain containing GRB2 like 2, endophilin A1 (from RefSeq NM_003026.5)
Gencode Transcript: ENST00000380607.5_5
Gencode Gene: ENSG00000107295.10_8
Transcript (Including UTRs)
   Position: hg19 chr9:17,579,064-17,797,122 Size: 218,059 Total Exon Count: 9 Strand: +
Coding Region
   Position: hg19 chr9:17,579,241-17,795,741 Size: 216,501 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr9:17,579,064-17,797,122)mRNA (may differ from genome)Protein (352 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SH3G2_HUMAN
DESCRIPTION: RecName: Full=Endophilin-A1; AltName: Full=EEN-B1; AltName: Full=Endophilin-1; AltName: Full=SH3 domain protein 2A; AltName: Full=SH3 domain-containing GRB2-like protein 2;
FUNCTION: Implicated in synaptic vesicle endocytosis. May recruit other proteins to membranes with high curvature.
SUBUNIT: Monomer; in cytoplasm. Homodimer; when associated with membranes (By similarity). Interacts with OPHN1 (By similarity). Interacts with SYNJ1 and DNM1. Interacts with MAP4K3; the interaction appears to regulate MAP4K3-mediated JNK activation. Interacts with PDCD6IP. Interacts with ATX2.
INTERACTION: Self; NbExp=2; IntAct=EBI-77938, EBI-77938; Q13444:ADAM15; NbExp=2; IntAct=EBI-77938, EBI-77818; Q13443:ADAM9; NbExp=2; IntAct=EBI-77938, EBI-77903; Q99700:ATXN2; NbExp=4; IntAct=EBI-77938, EBI-697691; P50402:EMD; NbExp=2; IntAct=EBI-77938, EBI-489887; Q99963:SH3GL3; NbExp=4; IntAct=EBI-77938, EBI-473910;
SUBCELLULAR LOCATION: Cytoplasm. Membrane; Peripheral membrane protein. Note=Concentrated in presynaptic nerve terminals in neurons.
TISSUE SPECIFICITY: Brain, mostly in frontal cortex. Expressed at high level in fetal cerebellum.
DOMAIN: An N-terminal amphipathic helix, the BAR domain and a second amphipathic helix inserted into helix 1 of the BAR domain (N-BAR domain) induce membrane curvature and bind curved membranes. The BAR domain dimer forms a rigid crescent shaped bundle of helices with the pair of second amphipathic helices protruding towards the membrane-binding surface.
MISCELLANEOUS: HeLa cells expressing the N-BAR domain of SH3GL2 show tubulation of the plasma membrane. The N-BAR domain binds liposomes and induces formation of tubules from liposomes. The N- terminal amphipathic helix is required for liposome binding. The second amphipathic helix enhances liposome tubulation.
SIMILARITY: Belongs to the endophilin family.
SIMILARITY: Contains 1 BAR domain.
SIMILARITY: Contains 1 SH3 domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: SH3GL2
Diseases sorted by gene-association score: childhood pilocytic astrocytoma (9), vulva squamous cell carcinoma (7), vulva cancer (7)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 180.01 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 766.30 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -73.70177-0.416 Picture PostScript Text
3' UTR -380.201381-0.275 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR004148 - BAR_dom
IPR011511 - SH3_2
IPR001452 - SH3_domain
IPR013315 - Spectrin_alpha_SH3

Pfam Domains:
PF00018 - SH3 domain
PF03114 - BAR domain
PF07653 - Variant SH3 domain
PF10455 - Bin/amphiphysin/Rvs domain for vesicular trafficking
PF14604 - Variant SH3 domain

SCOP Domains:
103657 - BAR/IMD domain-like
50044 - SH3-domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1X03 - X-ray MuPIT 1X04 - X-ray MuPIT 2D4C - X-ray MuPIT 2DBM - NMR MuPIT


ModBase Predicted Comparative 3D Structure on Q99962
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0008022 protein C-terminus binding
GO:0008289 lipid binding
GO:0019901 protein kinase binding
GO:0042802 identical protein binding
GO:0042803 protein homodimerization activity

Biological Process:
GO:0002090 regulation of receptor internalization
GO:0006897 endocytosis
GO:0007165 signal transduction
GO:0007417 central nervous system development
GO:0016191 synaptic vesicle uncoating
GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II
GO:0031175 neuron projection development
GO:0042059 negative regulation of epidermal growth factor receptor signaling pathway
GO:0048488 synaptic vesicle endocytosis
GO:0060988 lipid tube assembly
GO:0061024 membrane organization
GO:0097484 dendrite extension
GO:0097749 membrane tubulation
GO:0099050 vesicle scission
GO:1903527 positive regulation of membrane tubulation
GO:1990416 cellular response to brain-derived neurotrophic factor stimulus
GO:2000369 regulation of clathrin-dependent endocytosis

Cellular Component:
GO:0000139 Golgi membrane
GO:0005737 cytoplasm
GO:0005768 endosome
GO:0005769 early endosome
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0030669 clathrin-coated endocytic vesicle membrane
GO:0043025 neuronal cell body
GO:0045202 synapse
GO:0048471 perinuclear region of cytoplasm
GO:0097441 basilar dendrite
GO:0098793 presynapse


-  Descriptions from all associated GenBank mRNAs
  AK293546 - Homo sapiens cDNA FLJ53715 complete cds, highly similar to SH3-containing GRB2-like protein 2 (EC 2.3.1.-).
BC032825 - Homo sapiens SH3-domain GRB2-like 2, mRNA (cDNA clone MGC:26367 IMAGE:4820321), complete cds.
AK312400 - Homo sapiens cDNA, FLJ92732, Homo sapiens SH3-domain GRB2-like 2 (SH3GL2), mRNA.
AK057744 - Homo sapiens cDNA FLJ25015 fis, clone CBL01559.
AK293592 - Homo sapiens cDNA FLJ54594 complete cds, highly similar to SH3-containing GRB2-like protein 2 (EC 2.3.1.-).
AF036268 - Homo sapiens EEN-B1 mRNA, complete cds.
X99657 - H.sapiens mRNA for protein containing SH3 domain, SH3GL2.
AB464202 - Synthetic construct DNA, clone: pF1KB6462, Homo sapiens SH3GL2 gene for SH3-domain GRB2-like 2, without stop codon, in Flexi system.
CU689554 - Synthetic construct Homo sapiens gateway clone IMAGE:100016957 5' read SH3GL2 mRNA.
KJ901735 - Synthetic construct Homo sapiens clone ccsbBroadEn_11129 SH3GL2 gene, encodes complete protein.
AB206840 - Homo sapiens SH3GL2 mRNA for Endophilin A1 BAR domain, complete cds.
AB206841 - Homo sapiens SH3GL2 mRNA for mutated endophilin A1 BAR domain, complete cds.
CR542102 - Homo sapiens full open reading frame cDNA clone RZPDo834E0337D for gene SH3GL2, SH3-domain GRB2-like 2; complete cds, without stopcodon.
BT019682 - Homo sapiens SH3-domain GRB2-like 2 mRNA, complete cds.
CR542086 - Homo sapiens full open reading frame cDNA clone RZPDo834B0337D for gene SH3GL2, SH3-domain GRB2-like 2; complete cds, incl. stopcodon.
JD416341 - Sequence 397365 from Patent EP1572962.
AK302572 - Homo sapiens cDNA FLJ52909 complete cds, highly similar to SH3-containing GRB2-like protein 2 (EC 2.3.1.-).
AK302273 - Homo sapiens cDNA FLJ52941 complete cds, highly similar to SH3-containing GRB2-like protein 2 (EC 2.3.1.-).
BX538074 - Homo sapiens mRNA; cDNA DKFZp686B23205 (from clone DKFZp686B23205).
JD465634 - Sequence 446658 from Patent EP1572962.
JD558132 - Sequence 539156 from Patent EP1572962.
JD508460 - Sequence 489484 from Patent EP1572962.
JD376923 - Sequence 357947 from Patent EP1572962.
JD316594 - Sequence 297618 from Patent EP1572962.
JD273331 - Sequence 254355 from Patent EP1572962.
JD235239 - Sequence 216263 from Patent EP1572962.
JD530518 - Sequence 511542 from Patent EP1572962.
JD371541 - Sequence 352565 from Patent EP1572962.
JD338111 - Sequence 319135 from Patent EP1572962.
JD455826 - Sequence 436850 from Patent EP1572962.
JD276764 - Sequence 257788 from Patent EP1572962.
JD441036 - Sequence 422060 from Patent EP1572962.
JD109699 - Sequence 90723 from Patent EP1572962.
JD506528 - Sequence 487552 from Patent EP1572962.
JD377257 - Sequence 358281 from Patent EP1572962.
JD555227 - Sequence 536251 from Patent EP1572962.
JD281927 - Sequence 262951 from Patent EP1572962.
JD523716 - Sequence 504740 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q99962 (Reactome details) participates in the following event(s):

R-HSA-177501 Endocytosis (internalization) of clathrin-coated vesicle
R-HSA-555065 Formation of clathrin coated vesicle
R-HSA-445071 Reinsertion of L1 into the plasma membrane
R-HSA-421831 trans-Golgi Network Coat Assembly
R-HSA-432706 trans-Golgi Network Lysosome Vesicle Destined Membrane Coat Assembly
R-HSA-421835 trans-Golgi Network Vesicle Scission
R-HSA-432707 trans-Golgi Network Lysosomal Vesicle Scission
R-HSA-2130486 Uncoating of clathrin-coated vesicles and fusion with endosomes
R-HSA-177479 Axonal transport of NGF:Trk complexes
R-HSA-374696 Phosphorylation of L1 by p90rsk
R-HSA-392749 Transport of L1 into endosomes
R-HSA-445077 Transport of L1 from C-domain to P-domain
R-HSA-445079 Phosphorylation of L1 by ERK
R-HSA-8867754 F- and N- BAR domain proteins bind the clathrin-coated pit
R-HSA-8868230 SNX9 recruits components of the actin polymerizing machinery
R-HSA-8871194 RAB5 and GAPVD1 bind AP-2
R-HSA-8868658 HSPA8-mediated ATP hydrolysis promotes vesicle uncoating
R-HSA-8868659 Clathrin recruits auxilins to the clathrin-coated vesicle
R-HSA-8868661 Dynamin-mediated GTP hydrolysis promotes vesicle scission
R-HSA-8868660 Auxilin recruits HSPA8:ATP to the clathrin-coated vesicle
R-HSA-8868648 SYNJ hydrolyze PI(4,5)P2 to PI(4)P
R-HSA-182994 Assembly of EGFR complex in clathrin-coated vesicles
R-HSA-183072 EGFR non-clathrin mediated endocytosis
R-HSA-8875482 CBL recruits CIN85:endophilin to ubiquitinated MET
R-HSA-8876255 CBL recruits CIN85:endophilin complex to InlB-bound MET
R-HSA-8951490 CIN85 dissociates from EGF:p-6Y-EGFR:CBL:Beta-Pix:CDC42:GTP:CIN85
R-HSA-8868236 BAR domain proteins recruit dynamin
R-HSA-183002 Beta-Pix:CDC42:GTP binds CBL in EGF:p-6Y-EGFR:CBL:CIN85
R-HSA-8867044 EGFR binds EPS15, EPN1, EPS15L1
R-HSA-182986 CBL-mediated ubiquitination of CIN85
R-HSA-182990 Sprouty sequesters CBL away from active EGFR
R-HSA-8876262 EPS15 and HGS bind CBL-monoubiquitinated MET engaged with Listeria InlB
R-HSA-8868651 Endophilins recruit synaptojanins to the clathrin-coated pit
R-HSA-8867041 EGFR phosphorylates EPS15
R-HSA-8867047 PTPN3 dephosphorylates EPS15
R-HSA-8866279 Epsin family proteins bind ubiquitinated cargo
R-HSA-8875490 EPS15 and HGS bind ubiquitinated MET
R-HSA-8867756 CLASP proteins and cargo are recruited to the nascent clathrin-coated pit
R-HSA-8868071 Clathrin recruits PIK3C2A
R-HSA-8868072 Clathrin-associated PIK3C2A phosphorylates PI(4)P to PI(3,4)P2
R-HSA-177504 Retrograde neurotrophin signalling
R-HSA-437239 Recycling pathway of L1
R-HSA-2132295 MHC class II antigen presentation
R-HSA-432722 Golgi Associated Vesicle Biogenesis
R-HSA-432720 Lysosome Vesicle Biogenesis
R-HSA-187037 Signaling by NTRK1 (TRKA)
R-HSA-373760 L1CAM interactions
R-HSA-1280218 Adaptive Immune System
R-HSA-421837 Clathrin derived vesicle budding
R-HSA-166520 Signaling by NTRKs
R-HSA-422475 Axon guidance
R-HSA-168256 Immune System
R-HSA-8856828 Clathrin-mediated endocytosis
R-HSA-199992 trans-Golgi Network Vesicle Budding
R-HSA-9006934 Signaling by Receptor Tyrosine Kinases
R-HSA-1266738 Developmental Biology
R-HSA-182971 EGFR downregulation
R-HSA-6807004 Negative regulation of MET activity
R-HSA-8875360 InlB-mediated entry of Listeria monocytogenes into host cell
R-HSA-199991 Membrane Trafficking
R-HSA-162582 Signal Transduction
R-HSA-177929 Signaling by EGFR
R-HSA-6806834 Signaling by MET
R-HSA-8876384 Listeria monocytogenes entry into host cells
R-HSA-5653656 Vesicle-mediated transport
R-HSA-8856825 Cargo recognition for clathrin-mediated endocytosis
R-HSA-5663205 Infectious disease
R-HSA-1643685 Disease

-  Other Names for This Gene
  Alternate Gene Symbols: B2R618, CNSA2, ENST00000380607.1, ENST00000380607.2, ENST00000380607.3, ENST00000380607.4, NM_003026, Q99962, Q9NQK5, SH3D2A, SH3G2_HUMAN, uc318psh.1, uc318psh.2
UCSC ID: ENST00000380607.5_5
RefSeq Accession: NM_003026.5
Protein: Q99962 (aka SH3G2_HUMAN or SH32_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.