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Aliases for SNTB2 Gene

Aliases for SNTB2 Gene

  • Syntrophin Beta 2 2 3 5
  • Syntrophin, Beta 2 (Dystrophin-Associated Protein A1, 59kDa, Basic Component 2) 2 3
  • 59 KDa Dystrophin-Associated Protein A1 Basic Component 2 3 4
  • Syntrophin-3 3 4
  • D16S2531E 3 4
  • SNT2B2 3 4
  • SNTL 3 4
  • SNT3 3 4
  • Dystrophin-Associated Protein A1, 59kD, Basic Component 2 3
  • Beta-2-Syntrophin 3
  • Syntrophin-Like 4
  • EST25263 3

External Ids for SNTB2 Gene

Previous HGNC Symbols for SNTB2 Gene

  • SNT2B2
  • SNTL
  • D16S2531E

Previous GeneCards Identifiers for SNTB2 Gene

  • GC16P059906
  • GC16P069598
  • GC16P068956
  • GC16P068997
  • GC16P067778
  • GC16P055093

Summaries for SNTB2 Gene

Entrez Gene Summary for SNTB2 Gene

  • Dystrophin is a large, rod-like cytoskeletal protein found at the inner surface of muscle fibers. Dystrophin is missing in Duchenne Muscular Dystrophy patients and is present in reduced amounts in Becker Muscular Dystrophy patients. The protein encoded by this gene is a peripheral membrane protein found associated with dystrophin and dystrophin-related proteins. This gene is a member of the syntrophin gene family, which contains at least two other structurally-related genes. [provided by RefSeq, Jul 2008]

GeneCards Summary for SNTB2 Gene

SNTB2 (Syntrophin Beta 2) is a Protein Coding gene. Diseases associated with SNTB2 include Duchenne Muscular Dystrophy. GO annotations related to this gene include poly(A) RNA binding and calmodulin binding. An important paralog of this gene is SNTB1.

UniProtKB/Swiss-Prot for SNTB2 Gene

  • Adapter protein that binds to and probably organizes the subcellular localization of a variety of membrane proteins. May link various receptors to the actin cytoskeleton and the dystrophin glycoprotein complex. May play a role in the regulation of secretory granules via its interaction with PTPRN.

Gene Wiki entry for SNTB2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SNTB2 Gene

Genomics for SNTB2 Gene

Regulatory Elements for SNTB2 Gene

Enhancers for SNTB2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16G069223 0.9 ENCODE 26.7 +38.0 38034 3.5 ZFP64 ZBTB40 ZNF121 ZNF138 GATA2 ZNF302 FOS ZNF202 ZNF680 ZBTB11 PDPR SNTB2 LOC400541 UTP4 NONOP1 ENSG00000200164 PDXDC2P PDXDC2P-NPIPB14P SLC7A6OS NOB1
GH16G069130 1.1 ENCODE 20.1 -55.1 -55117 3.9 HDGF PKNOX1 MLX CREB3L1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B SNTB2 PDPR NONOP1 RNU6-22P ENSG00000200164 NOB1 TMED6 CHTF8 UTP4
GH16G069105 1.3 ENCODE dbSUPER 16.5 -80.1 -80128 3.9 PKNOX1 ATF1 AGO1 ZFP64 ARID4B SIN3A FEZF1 ZNF2 GLIS2 DEK NONOP1 SLC7A6OS SNTB2 PDXDC2P-NPIPB14P NPIPB14P PDXDC2P ENSG00000263276 CHTF8 NOB1 GC16M069105
GH16G069310 1.4 FANTOM5 ENCODE 14 +124.3 124312 2.3 PKNOX1 FOXA2 ARNT CREB3L1 AGO1 ZFP64 ARID4B SIN3A YY1 SLC30A9 UTP4 SNTB2 LOC400541 PDPR VPS4A PIR42936
GH16G069274 1.3 Ensembl ENCODE 14.6 +89.4 89356 3.6 FOXA2 PKNOX1 CREB3L1 ARNT AGO1 ARID4B SIN3A DMAP1 YY1 SLC30A9 UTP4 SNTB2 LOC400541 PDPR TMED6 CLEC18C PIR50286 LOC100421641
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SNTB2 on UCSC Golden Path with GeneCards custom track

Promoters for SNTB2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000087383 753 2201 HDGF HNRNPUL1 PKNOX1 FOXA2 ZFP64 SIN3A ARID4B FEZF1 DMAP1 YY1

Genomic Location for SNTB2 Gene

Chromosome:
16
Start:
69,187,129 bp from pter
End:
69,309,052 bp from pter
Size:
121,924 bases
Orientation:
Plus strand

Genomic View for SNTB2 Gene

Genes around SNTB2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SNTB2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SNTB2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SNTB2 Gene

Proteins for SNTB2 Gene

  • Protein details for SNTB2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13425-SNTB2_HUMAN
    Recommended name:
    Beta-2-syntrophin
    Protein Accession:
    Q13425
    Secondary Accessions:
    • Q9BY09

    Protein attributes for SNTB2 Gene

    Size:
    540 amino acids
    Molecular mass:
    57950 Da
    Quaternary structure:
    • Monomer and homodimer (Probable). Interacts with the other members of the syntrophin family: SNTA1 and SNTB1; and with the sodium channel proteins SCN4A and SCN5A. Interacts with SAST, MAST205, microtubules and microtubule-associated proteins (By similarity). Interacts with the dystrophin protein DMD and related proteins DTNA and UTRN, and with the neuroregulin receptor ERBB4. Interacts with PTPRN when phosphorylated, protecting PTPRN from protein cleavage by CAPN1. Dephosphorylation upon insulin stimulation disrupts the interaction with PTPRN and results in the cleavage of PTPRN.

    Three dimensional structures from OCA and Proteopedia for SNTB2 Gene

    Alternative splice isoforms for SNTB2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SNTB2 Gene

Post-translational modifications for SNTB2 Gene

  • Phosphorylated. Partially dephosphorylated upon insulin stimulation.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SNTB2 Gene

No data available for DME Specific Peptides for SNTB2 Gene

Domains & Families for SNTB2 Gene

Gene Families for SNTB2 Gene

Protein Domains for SNTB2 Gene

Suggested Antigen Peptide Sequences for SNTB2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q13425

UniProtKB/Swiss-Prot:

SNTB2_HUMAN :
  • The PH 1 domain mediates the oligomerization in a calcium dependent manner.
  • Belongs to the syntrophin family.
Domain:
  • The PH 1 domain mediates the oligomerization in a calcium dependent manner.
  • The PDZ domain binds to the last three or four amino acids of ion channels and receptor proteins. The association with dystrophin or related proteins probably leaves the PDZ domain available to recruit proteins to the membrane (By similarity).
  • The SU domain binds calmodulin in a calcium-dependent manner.
Family:
  • Belongs to the syntrophin family.
genes like me logo Genes that share domains with SNTB2: view

Function for SNTB2 Gene

Molecular function for SNTB2 Gene

UniProtKB/Swiss-Prot Function:
Adapter protein that binds to and probably organizes the subcellular localization of a variety of membrane proteins. May link various receptors to the actin cytoskeleton and the dystrophin glycoprotein complex. May play a role in the regulation of secretory granules via its interaction with PTPRN.

Gene Ontology (GO) - Molecular Function for SNTB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA 22658674
GO:0003779 actin binding IEA --
GO:0005198 structural molecule activity IEA --
GO:0005515 protein binding IPI 12763866
GO:0005516 calmodulin binding IEA --
genes like me logo Genes that share ontologies with SNTB2: view
genes like me logo Genes that share phenotypes with SNTB2: view

Animal Models for SNTB2 Gene

MGI Knock Outs for SNTB2:

Animal Model Products

  • Taconic Biosciences Mouse Models for SNTB2

miRNA for SNTB2 Gene

miRTarBase miRNAs that target SNTB2

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for SNTB2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SNTB2 Gene

Localization for SNTB2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SNTB2 Gene

Membrane. Cytoplasmic vesicle, secretory vesicle membrane; Peripheral membrane protein. Cell junction. Cytoplasm, cytoskeleton. Note=Membrane-associated. In muscle, it is exclusively localized at the neuromuscular junction (By similarity). In insulinoma cell line, it is enriched in secretory granules. {ECO:0000250}.

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 SNTB2 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 5
mitochondrion 2
nucleus 2
peroxisome 1
cytosol 1

Gene Ontology (GO) - Cellular Components for SNTB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA,IEA 19786618
GO:0005856 cytoskeleton IEA --
GO:0005874 microtubule IEA --
GO:0005925 focal adhesion IDA 21423176
GO:0016010 dystrophin-associated glycoprotein complex TAS 8576247
genes like me logo Genes that share ontologies with SNTB2: view

Pathways & Interactions for SNTB2 Gene

SuperPathways for SNTB2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SNTB2 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for SNTB2 Gene

Drugs & Compounds for SNTB2 Gene

(1) Drugs for SNTB2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0

(1) Additional Compounds for SNTB2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Sodium
  • Sodium ion
7440-23-5
genes like me logo Genes that share compounds with SNTB2: view

Transcripts for SNTB2 Gene

Unigene Clusters for SNTB2 Gene

Syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2):
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for SNTB2

Alternative Splicing Database (ASD) splice patterns (SP) for SNTB2 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b · 6c · 6d ^ 7 ^ 8 ^ 9
SP1: - -
SP2: - - - - - -
SP3:
SP4: - - -
SP5: - -
SP6: - -
SP7: - - - -

Relevant External Links for SNTB2 Gene

GeneLoc Exon Structure for
SNTB2
ECgene alternative splicing isoforms for
SNTB2

Expression for SNTB2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SNTB2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SNTB2 Gene

This gene is overexpressed in Uterus (9.6), Urinary Bladder (9.1), and Prostate (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SNTB2 Gene



Protein tissue co-expression partners for SNTB2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SNTB2 Gene:

SNTB2

SOURCE GeneReport for Unigene cluster for SNTB2 Gene:

Hs.461117

mRNA Expression by UniProt/SwissProt for SNTB2 Gene:

Q13425-SNTB2_HUMAN
Tissue specificity: Ubiquitous. Isoform 1 is the predominant isoform. Weak level of isoform 2 is present in all tested tissues, except in liver and heart where it is highly expressed.

Evidence on tissue expression from TISSUES for SNTB2 Gene

  • Muscle(4.4)
  • Liver(4.3)
  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with SNTB2: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for SNTB2 Gene

Orthologs for SNTB2 Gene

This gene was present in the common ancestor of animals.

Orthologs for SNTB2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SNTB2 34 35
  • 99.63 (n)
dog
(Canis familiaris)
Mammalia SNTB2 34 35
  • 94.32 (n)
oppossum
(Monodelphis domestica)
Mammalia SNTB2 35
  • 93 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SNTB2 34 35
  • 92.65 (n)
mouse
(Mus musculus)
Mammalia Sntb2 34 16 35
  • 91.18 (n)
rat
(Rattus norvegicus)
Mammalia Sntb2 34
  • 90.82 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SNTB2 35
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves SNTB2 34 35
  • 76.41 (n)
lizard
(Anolis carolinensis)
Reptilia SNTB2 35
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sntb2 34
  • 64.33 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100331323 34
  • 62.54 (n)
SNTB2 35
  • 61 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Syn1 36 35
  • 38 (a)
worm
(Caenorhabditis elegans)
Secernentea stn-1 36 35
  • 39 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 17 (a)
ManyToMany
Species where no ortholog for SNTB2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 SNTB2 Gene

ENSEMBL:
Gene Tree for SNTB2 (if available)
TreeFam:
Gene Tree for SNTB2 (if available)

Paralogs for SNTB2 Gene

Paralogs for SNTB2 Gene

genes like me logo Genes that share paralogs with SNTB2: view

Variants for SNTB2 Gene

Sequence variations from dbSNP and Humsavar for SNTB2 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs1000054113 -- 69,258,706(+) TCCTG(A/G)GTTCA intron-variant
rs1000065342 -- 69,242,890(+) GTGGC(A/G)GGCGC intron-variant
rs1000128831 -- 69,281,993(+) TCCAC(A/C)TTCCC intron-variant
rs1000134755 -- 69,263,668(+) CTGCC(C/T)TGGCC intron-variant
rs1000189970 -- 69,239,477(+) TGTGC(G/T)ATCCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SNTB2 Gene

Variant ID Type Subtype PubMed ID
esv1482035 CNV insertion 17803354
esv2180832 CNV deletion 18987734
esv2714661 CNV deletion 23290073
esv2714663 CNV deletion 23290073
esv3638921 CNV loss 21293372
esv993295 CNV insertion 20482838
nsv103191 CNV deletion 16902084
nsv1123062 CNV deletion 24896259
nsv1131273 CNV deletion 24896259
nsv1851 CNV insertion 18451855
nsv473371 CNV novel sequence insertion 20440878
nsv475726 CNV novel sequence insertion 20440878
nsv509628 CNV insertion 20534489
nsv819598 CNV loss 19587683

Variation tolerance for SNTB2 Gene

Residual Variation Intolerance Score: 20.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.73; 15.48% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SNTB2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SNTB2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SNTB2 Gene

Disorders for SNTB2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SNTB2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
duchenne muscular dystrophy
  • muscular dystrophy, duchenne type
- elite association - COSMIC cancer census association via MalaCards
Search SNTB2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for SNTB2

Genetic Association Database (GAD)
SNTB2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SNTB2
genes like me logo Genes that share disorders with SNTB2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SNTB2 Gene

Publications for SNTB2 Gene

  1. The three human syntrophin genes are expressed in diverse tissues, have distinct chromosomal locations, and each bind to dystrophin and its relatives. (PMID: 8576247) Ahn A.H. … Kunkel L.M. (J. Biol. Chem. 1996) 2 3 4 22 64
  2. Cloning of human basic A1, a distinct 59-kDa dystrophin-associated protein encoded on chromosome 8q23-24. (PMID: 8183929) Ahn A.H. … Kunkel L.M. (Proc. Natl. Acad. Sci. U.S.A. 1994) 2 3 22 64
  3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen J.V. … Mann M. (Cell 2006) 3 4 64
  4. An unappreciated role for RNA surveillance. (PMID: 14759258) Hillman R.T. … Brenner S.E. (Genome Biol. 2004) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for SNTB2 Gene

  • Addgene plasmids for SNTB2

Sources for SNTB2 Gene

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