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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SNTG2 Gene

protein-coding   GIFtS: 51
GCID: GC02P000942

Syntrophin, Gamma 2

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Syntrophin, Gamma 21 2
G2SYN2 3
SYN52 3
gamma-2-syntrophin2
syntrophin-52
Syntrophin-53

External Ids:    HGNC: 137411   Entrez Gene: 542212   Ensembl: ENSG000001725547   OMIM: 6087155   UniProtKB: Q9NY993   

Export aliases for SNTG2 gene to outside databases

Previous GC identifers: GC02P001386 GC02P9B0036


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SNTG2 Gene:
This gene encodes a protein belonging to the syntrophin family. Syntrophins are cytoplasmic peripheral membrane
proteins that bind to components of mechanosenstive sodium channels and the extreme carboxy-terminal domain of
dystrophin and dystrophin-related proteins. The PDZ domain of this protein product interacts with a protein
component of a mechanosensitive sodium channel that affects channel gating. Absence or reduction of this protein
product has been associated with Duchenne muscular dystrophy. There is evidence of alternative splicing yet the
full-length nature of these variants has not been described. (provided by RefSeq, Jul 2008)

GeneCards Summary for SNTG2 Gene: 
SNTG2 (syntrophin, gamma 2) is a protein-coding gene. Diseases associated with SNTG2 include duchenne muscular dystrophy, and muscular dystrophy. GO annotations related to this gene include PDZ domain binding and phospholipid binding. An important paralog of this gene is SNTA1.

UniProtKB/Swiss-Prot: SNTG2_HUMAN, Q9NY99
Function: Adapter protein that binds to and probably organizes the subcellular localization of a variety of
proteins. May link various receptors to the actin cytoskeleton and the dystrophin glycoprotein complex (By
similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NT_022221.13  NC_018913.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SNTG2 gene promoter:
         Pbx1a   HOXA3   NCX/Ncx   CUTL1   STAT5A   AP-2beta   AP-2alpha   En-1   RSRFC4   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSNTG2 promoter sequence
   Search SABiosciences Chromatin IP Primers for SNTG2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SNTG2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2p25.3   Ensembl cytogenetic band:  2p25.3   HGNC cytogenetic band: 2p25

SNTG2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SNTG2 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P000942:  view genomic region     (about GC identifiers)

Start:
946,554 bp from pter      End:
1,371,385 bp from pter
Size:
424,832 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SNTG2_HUMAN, Q9NY99 (See protein sequence)
Recommended Name: Gamma-2-syntrophin  
Size: 539 amino acids; 60217 Da
Subunit: Interacts with the dystrophin protein DMD and related proteins DTNA and DTNB
Subcellular location: Cell membrane, sarcolemma; Peripheral membrane protein; Cytoplasmic side. Cytoplasm,
cytoskeleton. Note=In skeletal muscle, it localizes at the cytoplasmic side of the sarcolemmal membrane
Secondary accessions: Q05AH5
Alternative splicing: 2 isoforms:  Q9NY99-1   Q9NY99-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SNTG2: NX_Q9NY99

Explore proteomics data for SNTG2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9NY99

  • SNTG2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SNTG2 Protein Expression
    REFSEQ proteins: NP_061841.2  
    ENSEMBL proteins: 
     ENSP00000412249   ENSP00000401997   ENSP00000311837   ENSP00000385020  

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    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005856cytoskeleton IEA--
    GO:0016013syntrophin complex TAS10747910
    GO:0042383sarcolemma IEA--

    SNTG2 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    3 InterPro protein domains:
     IPR015482 Syntrophin
     IPR001478 PDZ
     IPR001849 Pleckstrin_homology

    Graphical View of Domain Structure for InterPro Entry Q9NY99

    ProtoNet protein and cluster: Q9NY99

    2 Blocks protein domains:
    IPB001478 PDZ/DHR/GLGF domain
    IPB001849 Pleckstrin-like


    UniProtKB/Swiss-Prot: SNTG2_HUMAN, Q9NY99
    Domain: The association with dystrophin or related proteins probably leaves the PDZ domain available to recruit
    proteins to the membrane (By similarity)
    Similarity: Belongs to the syntrophin family
    Similarity: Contains 1 PDZ (DHR) domain
    Similarity: Contains 1 PH domain


    SNTG2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SNTG2_HUMAN, Q9NY99
    Function: Adapter protein that binds to and probably organizes the subcellular localization of a variety of
    proteins. May link various receptors to the actin cytoskeleton and the dystrophin glycoprotein complex (By
    similarity)

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IEA--
    GO:0005515protein binding ----
    GO:0005543phospholipid binding IEA--
    GO:0030165PDZ domain binding IPI17292328
         
    SNTG2 for ontologies           About GeneDecksing


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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section




    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SNTG2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 22)

    5/23 Interacting proteins for SNTG2 (Q9NY992, 3 ENSP000003118374) via UniProtKB, MINT, STRING, and/or I2D (see all 23)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SCN5AQ145242, 3, ENSP000003289684MINT-58717 MINT-58718 I2D: score=2 STRING: ENSP00000328968
    DTNBO609413, ENSP000003840844I2D: score=1 STRING: ENSP00000384084
    DMDP115323, ENSP000003549234I2D: score=1 STRING: ENSP00000354923
    DTNAQ9Y4J83, ENSP000003820644I2D: score=1 STRING: ENSP00000382064
    LRP1BQ9NZR23I2D: score=1 
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007417central nervous system development TAS10747910

    SNTG2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SNTG2

    Search CenterWatch for drugs/clinical trials and news about SNTG2

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SNTG2 gene: 
    NM_018968.3  

    Unigene Cluster for SNTG2:

    Syntrophin, gamma 2
    Hs.595069  [show with all ESTs]
    Unigene Representative Sequence: AJ003029
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000452177(uc002qwp.3) ENST00000450962 ENST00000308624(uc002qwq.3 uc010ewi.3)
    ENST00000407292 ENST00000463442 ENST00000475201 ENST00000467759 ENST00000494178
    ENST00000498321 ENST00000489646 ENST00000471239 ENST00000472606
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    Additional mRNA sequence: 

    AJ003029.1 BC035783.1 BC125251.1 

    7 DOTS entries:

    DT.304379  DT.91757858  DT.120969319  DT.92068091  DT.97782001  DT.75143463  DT.86845886 

    18 AceView cDNA sequences:

    BV200947 AA405993 BC035783 BP368994 AI393344 AW592765 BE044431 BM543795 
    AA405742 BG216682 BG204508 Z43606 BG184880 BG209790 AJ003029 BG216683 
    NM_018968 AA448072 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SNTG2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCACTAGTTT
    SNTG2 Expression
    About this image


    See SNTG2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SNTG2

    SOURCE GeneReport for Unigene cluster: Hs.595069

    UniProtKB/Swiss-Prot: SNTG2_HUMAN, Q9NY99
    Tissue specificity: Widely expressed. Strong expression in brain and testis. In CNS, it is expressed in the
    perikaryon and proximal portion of the neuronal processes. Strong expression in the hippocampus, neuron-rich
    dendate granule cells, and pyramidal cell layers. Highly expressed in neurons of the cerebral cortex. Also
    expressed in the cerebellar cortex, deep cerebellar nuclei, thalamus, and basal ganglia

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for SNTG2 gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sntg21 , 5 syntrophin, gamma 21, 5 82.68(n)1
    83.12(a)1
      12 (13.00 cM)5
    2685341  NM_172951.31  NP_766539.21 
     301744825 
    chicken
    (Gallus gallus)
    Aves SNTG21 syntrophin, gamma 2 79.39(n)
    84.69(a)
      421913  XM_419930.3  XP_419930.3 
    lizard
    (Anolis carolinensis)
    Reptilia SNTG26
    syntrophin, gamma 2
    80(a)
    1 ↔ 1
    1(160760133-161150322)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5693201 novel protein similar to vertebrate syntrophin, gamma more 66.41(n)
    65.84(a)
      569320  NM_001126427.1  NP_001119899.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Syn23 cytoskeletal protein binding 35(a)   53C7   --
    worm
    (Caenorhabditis elegans)
    Secernentea F27D9.83 synapse-associated protein 31(a)   X(7711659-7713932)   --


    ENSEMBL Gene Tree for SNTG2 (if available)
    TreeFam Gene Tree for SNTG2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SNTG2 gene
    SNTA12  SNTB12  SNTG12  SNTB22  GOPC2  
    2 SIMAP similar genes for SNTG2 using alignment to 2 protein entries:     SNTG2_HUMAN (see all proteins):
    SNTG1    DLG4

    SNTG2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/11291 SNPs in SNTG2 are shown (see all 11291)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1159306661,2
    F--944603(+) CTTACG/ATGCAG 1 -- us2k11Minor allele frequency- A:0.03WA 118
    rs1818082781,2
    --944634(+) AGCAGA/CTAGGC 1 -- us2k10--------
    rs1868880821,2
    --944639(+) ATAGGA/CAGTTA 1 -- us2k10--------
    rs67092651,2
    C,F,A,H--944751(+) AAAACT/CACATT 1 -- us2k111Minor allele frequency- C:0.27NA WA CSA EA 372
    rs1913316201,2
    --944781(+) AATTAA/CCTTTG 1 -- us2k10--------
    rs739086091,2
    C,F--948389(+) AGATGG/AAGCAT 1 -- int13Minor allele frequency- A:0.15WA CSA 121
    rs101763531,2
    C,F--948437(+) ATTAGG/ATATGT 1 -- int16Minor allele frequency- A:0.16NA WA 246
    rs739086101,2
    C,F--948454(+) CCTACC/GTTAGA 1 -- int13Minor allele frequency- G:0.17WA CSA 121
    rs1505119331,2
    C--948464(+) ACACCA/GGTGCA 1 -- int10--------
    rs743445391,2
    F--948495(+) CTTATG/ATATTT 1 -- int11Minor allele frequency- A:0.04WA 118

    HapMap Linkage Disequilibrium report for SNTG2 (946554 - 1196554 bp, first 250kb of SNTG2)

    Structural Variations
         Database of Genomic Variants (DGV) 10/137 variations for SNTG2 (see all 137):    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv598e201CNV Deletion23290073
    esv2719196CNV Deletion23290073
    dgv597e201CNV Deletion23290073
    esv2719201CNV Deletion23290073
    esv1684264CNV Deletion17803354
    esv2719181CNV Deletion23290073
    esv2024635CNV Deletion18987734
    esv2719232CNV Deletion23290073
    dgv596e201CNV Deletion23290073
    esv2719216CNV Deletion23290073


    Human Gene Mutation Database (HGMD): SNTG2
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 608715    OMIM disorders: --

    4 diseases for SNTG2:    About MalaCards
    duchenne muscular dystrophy    muscular dystrophy    cerebritis    neuronitis


    SNTG2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): SNTG2

    Export disorders for SNTG2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SNTG2 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with SNTG2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Gamma1- and gamma2-syntrophins, two novel dystrophin-binding proteins localized in neuronal cells. (PubMed id 10747910)1, 2, 3, 9 Piluso G.... Nigro V. (2000)
    2. Syntrophin gamma 2 regulates SCN5A gating by a PDZ domain-mediated interaction. (PubMed id 12429735)1, 9 Ou Y....Farrugia G. (2003)
    3. Neuroligins 3 and 4X interact with syntrophin-gamma2, and the interactions are affected by autism-related mutations. (PubMed id 17292328)1, 9 Yamakawa H....Ishiura S. (2007)
    4. Brain-specific angiogenesis inhibitor-1 signaling, reg ulation, and enrichment in the postsynaptic density. (PubMed id 23782696)1 Stephenson J.R....Hall R.A. (2013)
    5. Genome-wide association with bone mass and geometry in the Framingham Heart Study. (PubMed id 17903296)4 Kiel D.P....Karasik D. (2007)
    6. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W....Wilson R.K. (2005)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    8. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    9. Creation of genome-wide protein expression libraries using random activation of gene expression. (PubMed id 11329013)1 Harrington J.J.... Ducar M. (2001)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 54221 HGNC: 13741 AceView: SNTG2 Ensembl:ENSG00000172554 euGenes: HUgn54221
    ECgene: SNTG2 H-InvDB: SNTG2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SNTG2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SNTG2 gene:
    Search GeneIP for patents involving SNTG2

    GeneCards and IP:
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