Aliases for SH3GLB2 Gene

Aliases for SH3GLB2 Gene

  • SH3 Domain Containing GRB2 Like, Endophilin B2 2 3 5
  • SH3 Domain-Containing GRB2-Like Protein B2 3 4
  • Endophilin-B2 3 4
  • KIAA1848 2 4
  • SH3-Domain, GRB2-Like, Endophilin B2 2
  • SH3-Domain GRB2-Like Endophilin B2 3
  • Retinoid Receptor-Induced Gene 1 3
  • SH3-Containing Protein SH3GLB2 3
  • SH3GLB2 5
  • PP6569 3
  • PP9455 3
  • RRIG1 3

External Ids for SH3GLB2 Gene

Previous GeneCards Identifiers for SH3GLB2 Gene

  • GC09M122884
  • GC09M123416
  • GC09M125223
  • GC09M127146
  • GC09M128849
  • GC09M130810
  • GC09M131769
  • GC09M101377

Summaries for SH3GLB2 Gene

GeneCards Summary for SH3GLB2 Gene

SH3GLB2 (SH3 Domain Containing GRB2 Like, Endophilin B2) is a Protein Coding gene. Among its related pathways are Endocytosis. An important paralog of this gene is SH3GLB1.

Gene Wiki entry for SH3GLB2 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SH3GLB2 Gene

Genomics for SH3GLB2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SH3GLB2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SH3GLB2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SH3GLB2

Top Transcription factor binding sites by QIAGEN in the SH3GLB2 gene promoter:
  • AML1a
  • c-Ets-1
  • Evi-1
  • FOXF2
  • GATA-2
  • MIF-1
  • MRF-2
  • NF-1
  • p53
  • Sp1

Genomic Locations for SH3GLB2 Gene

Latest Assembly
chr9:129,007,036-129,028,331
(GRCh38/hg38)
Size:
21,296 bases
Orientation:
Minus strand

Previous Assembly
chr9:131,769,315-131,790,610
(GRCh37/hg19 by Entrez Gene)
Size:
21,296 bases
Orientation:
Minus strand

chr9:131,769,315-131,790,582
(GRCh37/hg19 by Ensembl)
Size:
21,268 bases
Orientation:
Minus strand

Genomic View for SH3GLB2 Gene

Genes around SH3GLB2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SH3GLB2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SH3GLB2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SH3GLB2 Gene

Proteins for SH3GLB2 Gene

  • Protein details for SH3GLB2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NR46-SHLB2_HUMAN
    Recommended name:
    Endophilin-B2
    Protein Accession:
    Q9NR46
    Secondary Accessions:
    • A6NC47
    • A8MPS4
    • Q8WY61
    • Q96JH9

    Protein attributes for SH3GLB2 Gene

    Size:
    395 amino acids
    Molecular mass:
    43974 Da
    Quaternary structure:
    • Homodimer, and heterodimer with SH3GLB1.
    SequenceCaution:
    • Sequence=AAG23792.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=BAB47477.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for SH3GLB2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SH3GLB2 Gene

Post-translational modifications for SH3GLB2 Gene

  • Ubiquitination at Lys26 and Lys276
  • Modification sites at PhosphoSitePlus

Antibodies for research

  • Abcam antibodies for SH3GLB2

No data available for DME Specific Peptides for SH3GLB2 Gene

Domains & Families for SH3GLB2 Gene

Gene Families for SH3GLB2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for SH3GLB2 Gene

InterPro:
Blocks:
  • SH3 domain signature
ProtoNet:

Suggested Antigen Peptide Sequences for SH3GLB2 Gene

GenScript: Design optimal peptide antigens:
  • SH3 domain-containing GRB2-like protein B2 (SHLB2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NR46

UniProtKB/Swiss-Prot:

SHLB2_HUMAN :
  • Belongs to the endophilin family.
Family:
  • Belongs to the endophilin family.
genes like me logo Genes that share domains with SH3GLB2: view

Function for SH3GLB2 Gene

Phenotypes From GWAS Catalog for SH3GLB2 Gene

Gene Ontology (GO) - Molecular Function for SH3GLB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 11161816
GO:0042802 identical protein binding IPI 20562859
GO:0045296 cadherin binding HDA 25468996
genes like me logo Genes that share ontologies with SH3GLB2: view
genes like me logo Genes that share phenotypes with SH3GLB2: view

miRNA for SH3GLB2 Gene

miRTarBase miRNAs that target SH3GLB2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SH3GLB2

Clone products for research

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SH3GLB2 Gene

Localization for SH3GLB2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SH3GLB2 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SH3GLB2 gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SH3GLB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA,IDA 11161816
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with SH3GLB2: view

Pathways & Interactions for SH3GLB2 Gene

PathCards logo

SuperPathways for SH3GLB2 Gene

SuperPathway Contained pathways
1 Endocytosis
genes like me logo Genes that share pathways with SH3GLB2: view

Pathways by source for SH3GLB2 Gene

1 KEGG pathway for SH3GLB2 Gene

Gene Ontology (GO) - Biological Process for SH3GLB2 Gene

None

No data available for SIGNOR curated interactions for SH3GLB2 Gene

Drugs & Compounds for SH3GLB2 Gene

No Compound Related Data Available

Transcripts for SH3GLB2 Gene

mRNA/cDNA for SH3GLB2 Gene

6 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SH3GLB2

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for SH3GLB2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12
SP1: - -
SP2: - - - -
SP3: -
SP4: -
SP5:

Relevant External Links for SH3GLB2 Gene

GeneLoc Exon Structure for
SH3GLB2

Expression for SH3GLB2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SH3GLB2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SH3GLB2 Gene

This gene is overexpressed in Frontal cortex (10.6), Peripheral blood mononuclear cells (7.2), and Bone marrow mesenchymal stem cell (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SH3GLB2 Gene



Protein tissue co-expression partners for SH3GLB2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SH3GLB2

SOURCE GeneReport for Unigene cluster for SH3GLB2 Gene:

Hs.460238

mRNA Expression by UniProt/SwissProt for SH3GLB2 Gene:

Q9NR46-SHLB2_HUMAN
Tissue specificity: Detected in skeletal muscle, adipocyte, brain, lung, colon and mammary gland.

Evidence on tissue expression from TISSUES for SH3GLB2 Gene

  • Nervous system(4.9)
  • Muscle(4.3)
  • Skin(2.5)
  • Lung(2.4)
genes like me logo Genes that share expression patterns with SH3GLB2: view

Primer products for research

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for SH3GLB2 Gene

Orthologs for SH3GLB2 Gene

This gene was present in the common ancestor of animals.

Orthologs for SH3GLB2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SH3GLB2 30 31
  • 99.49 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SH3GLB2 30 31
  • 91.22 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SH3GLB2 30 31
  • 91.18 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Sh3glb2 30 17 31
  • 90.38 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SH3GLB2 31
  • 85 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SH3GLB2 31
  • 76 (a)
OneToOne
Chicken
(Gallus gallus)
Aves -- 31
  • 79 (a)
OneToMany
SH3GLB2 30 31
  • 77.55 (n)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 25 (a)
ManyToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia sh3glb2 30
  • 74.87 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.12363 30
Zebrafish
(Danio rerio)
Actinopterygii sh3glb2b 31
  • 73 (a)
OneToMany
sh3glb2a 30 31
  • 71.87 (n)
OneToMany
zgc55887 30
Fruit Fly
(Drosophila melanogaster)
Insecta endoB 31 32
  • 42 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea erp-1 30 31
  • 53.54 (n)
OneToMany
F35A5.8b 32
  • 49 (a)
F35A5.8a 32
  • 43 (a)
Species where no ortholog for SH3GLB2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for SH3GLB2 Gene

ENSEMBL:
Gene Tree for SH3GLB2 (if available)
TreeFam:
Gene Tree for SH3GLB2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SH3GLB2: view image

Paralogs for SH3GLB2 Gene

(1) SIMAP similar genes for SH3GLB2 Gene using alignment to 6 proteins:

  • SHLB2_HUMAN
  • B7ZC38_HUMAN
  • B7ZC39_HUMAN
  • F8WFB9_HUMAN
  • G5E9J1_HUMAN
  • H7C1Z6_HUMAN
genes like me logo Genes that share paralogs with SH3GLB2: view

Variants for SH3GLB2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SH3GLB2 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
rs16930816 Benign: not provided 129,010,135(-) T/A
NM_001287045.1(SH3GLB2):c.735A>T (p.Gly245=)
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS
rs17455475 - p.Pro319Leu
rs17455482 - p.Ala305Val

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SH3GLB2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SH3GLB2 Gene

Variant ID Type Subtype PubMed ID
esv2030052 CNV deletion 18987734
esv2568076 CNV deletion 19546169
esv3621822 CNV loss 21293372
nsv509323 CNV insertion 20534489
nsv818725 CNV gain 17921354
nsv831729 CNV loss 17160897

Variation tolerance for SH3GLB2 Gene

Residual Variation Intolerance Score: 45.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.37; 42.04% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SH3GLB2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SH3GLB2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SH3GLB2 Gene

Disorders for SH3GLB2 Gene

Additional Disease Information for SH3GLB2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform

No disorders were found for SH3GLB2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SH3GLB2 Gene

Publications for SH3GLB2 Gene

  1. SH3GLB, a new endophilin-related protein family featuring an SH3 domain. (PMID: 11161816) Pierrat B … Heim J (Genomics 2001) 2 3 4 23
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  3. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 3 4
  4. Large-scale cDNA transfection screening for genes related to cancer development and progression. (PMID: 15498874) Wan D … Gu J (Proceedings of the National Academy of Sciences of the United States of America 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for SH3GLB2 Gene

Sources for SH3GLB2 Gene