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 ... See more...

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
  • Beta-2-Syntrophin 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
  • 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 Muscular Dystrophy and Brugada Syndrome. Gene Ontology (GO) annotations related to this gene include calmodulin binding. An important paralog of this gene is SNTB1.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for SNTB2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SNTB2 Gene

Genomics for SNTB2 Gene

GeneHancer (GH) Regulatory Elements for SNTB2 Gene

Promoters and enhancers for SNTB2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J069186 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 531.4 +0.8 773 3.8 ZBTB40 SIN3A NRF1 POLR2G SP1 ZFX EP300 REST POLR2A ZBTB11 SNTB2 lnc-CHTF8-9 PDPR UTP4 NFAT5 ENSG00000260290 ENSG00000263276 ENSG00000247228 CHTF8 PDXDC2P-NPIPB14P
GH16J069298 Promoter/Enhancer 1.1 EPDnew Ensembl 525.1 +113.0 112971 4.2 FOXA2 KAT7 SAP130 ZNF205 GATA3 FOXP1 SMAD4 ZGPAT BCL6 CEBPB SNTB2 ENSG00000260914 UTP4 RNU6-22P NIP7 COG8 TMED6 ENSG00000200164 CHTF8 piR-57035
GH16J069165 Promoter/Enhancer 1.1 EPDnew Ensembl ENCODE 506.3 -20.3 -20268 2.8 ZNF316 MAFF MAFK ZFHX2 BATF FOS JUND JUN BHLHE40 TCF7 SNTB2 UTP4 CHTF8 TMED6 lnc-CHTF8-4 RF00017-2123
GH16J069307 Promoter 0.4 EPDnew 511 +120.2 120209 0.1 TCF7 SNTB2 ENSG00000200164 VPS4A piR-56999-002 ENSG00000260914
GH16J069306 Promoter 0.3 EPDnew 511 +117.9 117930 0.1 SNTB2 piR-56999-002 piR-57035 ENSG00000200164 ENSG00000260914 VPS4A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SNTB2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SNTB2

Top Transcription factor binding sites by QIAGEN in the SNTB2 gene promoter:
  • CUTL1
  • FOXL1
  • p53
  • POU2F1
  • POU2F1a
  • POU3F2
  • POU6F1 (c2)
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c

Genomic Locations for SNTB2 Gene

Genomic Locations for SNTB2 Gene
chr16:69,187,129-69,309,052
(GRCh38/hg38)
Size:
121,924 bases
Orientation:
Plus strand
chr16:69,221,032-69,342,955
(GRCh37/hg19)
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.
    Miscellaneous:
    • [Isoform 2]: Lacks domains required for interaction with dystrophin related proteins. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    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

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

Protein Domains for SNTB2 Gene

Blocks:
  • Pleckstrin-like
  • PDZ/DHR/GLGF domain
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SNTB2 Gene

GenScript: Design optimal peptide antigens:
  • Syntrophin-like (SNTB2_HUMAN)

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.

Phenotypes From GWAS Catalog for SNTB2 Gene

Gene Ontology (GO) - Molecular Function for SNTB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0003779 actin binding IEA --
GO:0005198 structural molecule activity IEA --
GO:0005515 protein binding IEA,IPI 8576247
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

CRISPR Products

miRNA for SNTB2 Gene

miRTarBase miRNAs that target SNTB2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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
cytoskeleton 5
plasma membrane 4
nucleus 2
extracellular 1
mitochondrion 1
peroxisome 1
cytosol 1

Gene Ontology (GO) - Cellular Components for SNTB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IBA 21873635
GO:0005737 cytoplasm IDA,IEA 19786618
GO:0005856 cytoskeleton IEA --
GO:0005874 microtubule IEA --
GO:0005925 focal adhesion HDA 21423176
genes like me logo Genes that share ontologies with SNTB2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SNTB2 Gene

Pathways & Interactions for SNTB2 Gene

PathCards logo

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 Approved Nutra 7884

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

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

Transcripts for SNTB2 Gene

mRNA/cDNA for SNTB2 Gene

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

CRISPR Products

Inhibitory RNA Products

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

Expression for SNTB2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for SNTB2 Gene



Protein tissue co-expression partners for SNTB2 Gene

- Elite partner

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

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 31 30
  • 99.63 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SNTB2 31 30
  • 94.32 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SNTB2 31
  • 93 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SNTB2 31 30
  • 92.65 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Sntb2 17 31 30
  • 91.18 (n)
rat
(Rattus norvegicus)
Mammalia Sntb2 30
  • 90.82 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SNTB2 31
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves SNTB2 31 30
  • 76.41 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SNTB2 31
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sntb2 30
  • 64.33 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100331323 30
  • 62.54 (n)
SNTB2 31
  • 61 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Syn1 31 32
  • 34 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea stn-1 31 32
  • 41 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for SNTB2: view image

Paralogs for SNTB2 Gene

Paralogs for SNTB2 Gene

(13) SIMAP similar genes for SNTB2 Gene using alignment to 5 proteins:

  • SNTB2_HUMAN
  • H0YCS0_HUMAN
  • H7BY41_HUMAN
  • J3KT21_HUMAN
  • L8EAJ4_HUMAN
genes like me logo Genes that share paralogs with SNTB2: view

Variants for SNTB2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SNTB2 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
rs1058482 - p.Asp424Glu
VAR_073697 - p.Ser376Arg

Additional dbSNP identifiers (rs#s) for SNTB2 Gene

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)

Additional Variant Information for SNTB2 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for SNTB2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
muscular dystrophy
  • muscular dystrophies
brugada syndrome
  • right bundle branch block, st segment elevation, and sudden death syndrome
- elite association - COSMIC cancer census association via MalaCards
Search SNTB2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for 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 AH … Kunkel LM (The Journal of biological chemistry 1996) 2 3 4 23 54
  2. Cloning of human basic A1, a distinct 59-kDa dystrophin-associated protein encoded on chromosome 8q23-24. (PMID: 8183929) Ahn AH … Kunkel LM (Proceedings of the National Academy of Sciences of the United States of America 1994) 2 3 23 54
  3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 54
  4. 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 54
  5. An unappreciated role for RNA surveillance. (PMID: 14759258) Hillman RT … Brenner SE (Genome biology 2004) 3 4 54

Products for SNTB2 Gene

Sources for SNTB2 Gene