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Aliases for SNTB1 Gene

Aliases for SNTB1 Gene

  • Syntrophin Beta 1 2 3 5
  • Tax Interaction Protein 43 2 3 4
  • Syntrophin, Beta 1 (Dystrophin-Associated Protein A1, 59kDa, Basic Component 1) 2 3
  • 59 KDa Dystrophin-Associated Protein A1 Basic Component 1 3 4
  • Syntrophin-2 3 4
  • SNT2B1 3 4
  • DAPA1B 3 4
  • TIP-43 3 4
  • BSYN2 3 4
  • Dystrophin-Associated Protein A1, 59kD, Basic Component 1 3
  • Beta-1-Syntrophin 3
  • 59-DAP 3
  • SNT2 3
  • A1B 3

External Ids for SNTB1 Gene

Previous HGNC Symbols for SNTB1 Gene

  • SNT2B1

Previous GeneCards Identifiers for SNTB1 Gene

  • GC08M121607
  • GC08M121218
  • GC08M121506
  • GC08M121619
  • GC08M116868

Summaries for SNTB1 Gene

Entrez Gene Summary for SNTB1 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 SNTB1 Gene

SNTB1 (Syntrophin Beta 1) is a Protein Coding gene. Diseases associated with SNTB1 include Muscular Dystrophy and Myopia. Among its related pathways are Muscular Dystrophies and Dystrophin-Glycoprotein Complex and BMP Pathway. Gene Ontology (GO) annotations related to this gene include actin binding and PDZ domain binding. An important paralog of this gene is SNTB2.

UniProtKB/Swiss-Prot for SNTB1 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.

Gene Wiki entry for SNTB1 Gene

Additional gene information for SNTB1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SNTB1 Gene

Genomics for SNTB1 Gene

GeneHancer (GH) Regulatory Elements for SNTB1 Gene

Promoters and enhancers for SNTB1 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
GH08J120806 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE 652.1 +3.3 3252 6.1 HDGF PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 YBX1 ZNF2 SNTB1 ENSG00000272502 LOC101927543
GH08J120813 Enhancer 0.9 ENCODE 656.5 -1.4 -1356 3 ELF3 FOXA2 MLX ZFP64 ARID4B DMAP1 RAD21 DNMT3B THRB ZNF48 SNTB1 ENSG00000272502 GC08P120906
GH08J120860 Enhancer 1.4 FANTOM5 Ensembl ENCODE 16.9 -48.4 -48422 1.5 FOXA2 MLX ARID4B FEZF1 DMAP1 ZNF48 ETS1 NFKBIZ RXRA ZNF518A SNTB1 GC08P120906
GH08J120777 Enhancer 1.3 Ensembl ENCODE dbSUPER 16.3 +33.6 33586 5.1 FOXA2 MLX ARID4B FEZF1 FOS NFKBIZ RXRA SP5 MXD4 MIER2 SNTB1 LOC101927543 ENSG00000272502
GH08J120844 Enhancer 1.1 ENCODE dbSUPER 16.8 -33.2 -33151 3.5 FOXA2 MLX YY1 NFKBIZ RXRA SP5 MIER2 REST PPARG KAT8 SNTB1 LOC101927543 GC08P120906
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SNTB1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SNTB1 gene promoter:
  • Pax-6
  • E47
  • AP-1
  • FOXJ2
  • FOXJ2 (long isoform)
  • E4BP4
  • CUTL1
  • Gfi-1

Genomic Locations for SNTB1 Gene

Genomic Locations for SNTB1 Gene
chr8:120,535,745-120,813,273
(GRCh38/hg38)
Size:
277,529 bases
Orientation:
Minus strand
chr8:121,547,985-121,825,513
(GRCh37/hg19)
Size:
277,529 bases
Orientation:
Minus strand

Genomic View for SNTB1 Gene

Genes around SNTB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SNTB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SNTB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SNTB1 Gene

Proteins for SNTB1 Gene

  • Protein details for SNTB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13884-SNTB1_HUMAN
    Recommended name:
    Beta-1-syntrophin
    Protein Accession:
    Q13884
    Secondary Accessions:
    • A8K9E0
    • O14912
    • Q4KMG8

    Protein attributes for SNTB1 Gene

    Size:
    538 amino acids
    Molecular mass:
    58061 Da
    Quaternary structure:
    • Monomer and homodimer (Probable). Interacts with the other members of the syntrophin family SNTA1 and SNTB2; with the sodium channel proteins SCN4A and SCN5A (By similarity). Interacts with the viral HTLV-1 TAX protein and with dystrophin protein DMD and related proteins DTNA and UTRN.

    Alternative splice isoforms for SNTB1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SNTB1 Gene

Post-translational modifications for SNTB1 Gene

Other Protein References for SNTB1 Gene

No data available for DME Specific Peptides for SNTB1 Gene

Domains & Families for SNTB1 Gene

Gene Families for SNTB1 Gene

Protein Domains for SNTB1 Gene

Suggested Antigen Peptide Sequences for SNTB1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q13884

UniProtKB/Swiss-Prot:

SNTB1_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 SNTB1: view

Function for SNTB1 Gene

Molecular function for SNTB1 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.

Phenotypes From GWAS Catalog for SNTB1 Gene

Gene Ontology (GO) - Molecular Function for SNTB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0005198 structural molecule activity IEA --
GO:0005515 protein binding IPI 7844150
GO:0005516 calmodulin binding IEA --
GO:0030165 PDZ domain binding IEA --
genes like me logo Genes that share ontologies with SNTB1: view
genes like me logo Genes that share phenotypes with SNTB1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SNTB1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SNTB1 Gene

Localization for SNTB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SNTB1 Gene

Cell membrane, sarcolemma; Peripheral membrane protein; Cytoplasmic side. Cell junction. Cytoplasm, cytoskeleton. Note=In skeletal muscle, it localizes at the cytoplasmic side of the sarcolemmal membrane and at neuromuscular junctions. {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 SNTB1 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 3
nucleus 2
cytosol 2
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SNTB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane IEA --
GO:0005925 focal adhesion HDA 21423176
GO:0016010 dystrophin-associated glycoprotein complex TAS 8119949
genes like me logo Genes that share ontologies with SNTB1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SNTB1 Gene

Pathways & Interactions for SNTB1 Gene

genes like me logo Genes that share pathways with SNTB1: view

Pathways by source for SNTB1 Gene

Gene Ontology (GO) - Biological Process for SNTB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006936 muscle contraction TAS 8183929
genes like me logo Genes that share ontologies with SNTB1: view

No data available for SIGNOR curated interactions for SNTB1 Gene

Drugs & Compounds for SNTB1 Gene

(1) Drugs for SNTB1 Gene - From: HMDB

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

(1) Additional Compounds for SNTB1 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 SNTB1: view

Transcripts for SNTB1 Gene

mRNA/cDNA for SNTB1 Gene

Unigene Clusters for SNTB1 Gene

Syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SNTB1

Alternative Splicing Database (ASD) splice patterns (SP) for SNTB1 Gene

No ASD Table

Relevant External Links for SNTB1 Gene

GeneLoc Exon Structure for
SNTB1
ECgene alternative splicing isoforms for
SNTB1

Expression for SNTB1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SNTB1 Gene

mRNA differential expression in normal tissues according to GTEx for SNTB1 Gene

This gene is overexpressed in Adrenal Gland (x9.8) and Liver (x5.0).

Protein differential expression in normal tissues from HIPED for SNTB1 Gene

This gene is overexpressed in Breast (21.2) and Salivary gland (14.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SNTB1 Gene



Protein tissue co-expression partners for SNTB1 Gene

NURSA nuclear receptor signaling pathways regulating expression of SNTB1 Gene:

SNTB1

SOURCE GeneReport for Unigene cluster for SNTB1 Gene:

Hs.46701

mRNA Expression by UniProt/SwissProt for SNTB1 Gene:

Q13884-SNTB1_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for SNTB1 Gene

  • Liver(4.4)
  • Muscle(4.4)
  • Lung(4.3)
  • Blood(4.2)
genes like me logo Genes that share expression patterns with SNTB1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SNTB1 Gene

Orthologs for SNTB1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SNTB1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SNTB1 34 33
  • 99.94 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SNTB1 34 33
  • 92.03 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Sntb1 16 34 33
  • 89.25 (n)
rat
(Rattus norvegicus)
Mammalia Sntb1 33
  • 88.8 (n)
cow
(Bos Taurus)
Mammalia SNTB1 34 33
  • 86.31 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SNTB1 34
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SNTB1 34
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves SNTB1 34 33
  • 81.55 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SNTB1 34
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sntb1 33
  • 73 (n)
Str.13583 33
zebrafish
(Danio rerio)
Actinopterygii sntb1 34 33
  • 69.32 (n)
OneToOne
Dr.12127 33
fruit fly
(Drosophila melanogaster)
Insecta Syn1 34 35 33
  • 54.9 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012354 33
  • 40.25 (n)
worm
(Caenorhabditis elegans)
Secernentea stn-1 34 35 33
  • 48.69 (n)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 17 (a)
ManyToMany
Species where no ortholog for SNTB1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 SNTB1 Gene

ENSEMBL:
Gene Tree for SNTB1 (if available)
TreeFam:
Gene Tree for SNTB1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SNTB1: view image

Paralogs for SNTB1 Gene

Paralogs for SNTB1 Gene

(2) SIMAP similar genes for SNTB1 Gene using alignment to 2 proteins:

  • SNTB1_HUMAN
  • E5RIX7_HUMAN
genes like me logo Genes that share paralogs with SNTB1: view

Variants for SNTB1 Gene

Sequence variations from dbSNP and Humsavar for SNTB1 Gene

SNP ID Clin Chr 08 pos Variation AA Info Type
rs10090787 association, Lip and oral cavity carcinoma 120,798,309(-) C/T intron_variant
rs1000009743 -- 120,797,105(-) A/C intron_variant
rs1000043255 -- 120,730,871(-) G/A intron_variant
rs1000045197 -- 120,594,260(-) A/AA intron_variant
rs1000062366 -- 120,637,058(-) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for SNTB1 Gene

Variant ID Type Subtype PubMed ID
dgv472n21 CNV loss 19592680
esv2384067 CNV deletion 18987734
esv2627304 CNV deletion 19546169
esv2737504 CNV deletion 23290073
esv2759640 CNV gain 17122850
esv27731 CNV loss 19812545
esv3544114 CNV deletion 23714750
esv3618611 CNV loss 21293372
esv9493 CNV loss 19470904
esv991277 CNV deletion 20482838
nsv1016172 CNV loss 25217958
nsv396363 CNV deletion 16902084
nsv476152 CNV novel sequence insertion 20440878
nsv518562 CNV loss 19592680
nsv519152 CNV gain 19592680
nsv527545 CNV gain 19592680
nsv612113 CNV loss 21841781
nsv6367 CNV insertion 18451855
nsv6368 CNV insertion 18451855
nsv6369 CNV deletion 18451855
nsv956048 CNV deletion 24416366

Variation tolerance for SNTB1 Gene

Residual Variation Intolerance Score: 23.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.72; 46.56% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SNTB1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SNTB1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SNTB1 Gene

Disorders for SNTB1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SNTB1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
muscular dystrophy
  • muscular dystrophies
myopia
  • near vision
- elite association - COSMIC cancer census association via MalaCards
Search SNTB1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SNTB1

genes like me logo Genes that share disorders with SNTB1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SNTB1 Gene

Publications for SNTB1 Gene

  1. 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 4 22 58
  2. The C-terminus of the HTLV-1 Tax oncoprotein mediates interaction with the PDZ domain of cellular proteins. (PMID: 9482110) Rousset R … Jalinot P (Oncogene 1998) 2 3 4 58
  3. Syntrophin binds to an alternatively spliced exon of dystrophin. (PMID: 7844150) Ahn AH … Kunkel LM (The Journal of cell biology 1995) 3 4 22 58
  4. Common variants at 5q22 associate with pediatric eosinophilic esophagitis. (PMID: 20208534) Rothenberg ME … Hakonarson H (Nature genetics 2010) 3 44 58
  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 58

Products for SNTB1 Gene

Sources for SNTB1 Gene

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