Human Gene SNTB2 (ENST00000336278.9_4) from GENCODE V47lift37
  Description: syntrophin beta 2, transcript variant 4 (from RefSeq NR_172090.1)
Gencode Transcript: ENST00000336278.9_4
Gencode Gene: ENSG00000168807.17_10
Transcript (Including UTRs)
   Position: hg19 chr16:69,221,067-69,342,955 Size: 121,889 Total Exon Count: 7 Strand: +
Coding Region
   Position: hg19 chr16:69,221,070-69,334,827 Size: 113,758 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:69,221,067-69,342,955)mRNA (may differ from genome)Protein (540 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblExonPrimerGeneCardsHGNC
Human Cortex Gene ExpressionMalacardsMGIPubMedUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: SNTB2_HUMAN
DESCRIPTION: RecName: Full=Beta-2-syntrophin; AltName: Full=59 kDa dystrophin-associated protein A1 basic component 2; AltName: Full=Syntrophin-3; Short=SNT3; AltName: Full=Syntrophin-like; Short=SNTL;
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.
SUBUNIT: 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.
SUBCELLULAR LOCATION: Membrane. Cytoplasmic vesicle, secretory vesicle membrane; Peripheral membrane protein. Cell junction (By similarity). 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.
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.
DOMAIN: The PH 1 domain mediates the oligomerization in a calcium dependent manner (By similarity).
DOMAIN: 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).
DOMAIN: The SU domain binds calmodulin in a calcium-dependent manner (By similarity).
PTM: Phosphorylated. Partially dephosphorylated upon insulin stimulation.
SIMILARITY: Belongs to the syntrophin family.
SIMILARITY: Contains 1 PDZ (DHR) domain.
SIMILARITY: Contains 2 PH domains.
SIMILARITY: Contains 1 SU (syntrophin unique) domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: SNTB2
Diseases sorted by gene-association score: duchenne muscular dystrophy (5)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 10.10 RPKM in Thyroid
Total median expression: 244.91 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
3' UTR -2365.908128-0.291 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001478 - PDZ
IPR001849 - Pleckstrin_homology
IPR015482 - Syntrophin

Pfam Domains:
PF00595 - PDZ domain
PF18012 - PH domain

SCOP Domains:
50156 - PDZ domain-like
50729 - PH domain-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2VRF - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q13425
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003723 RNA binding
GO:0003779 actin binding
GO:0005198 structural molecule activity
GO:0005515 protein binding
GO:0005516 calmodulin binding

Cellular Component:
GO:0005737 cytoplasm
GO:0005856 cytoskeleton
GO:0005874 microtubule
GO:0005925 focal adhesion
GO:0016010 dystrophin-associated glycoprotein complex
GO:0016020 membrane
GO:0030054 cell junction
GO:0030658 transport vesicle membrane
GO:0031410 cytoplasmic vesicle
GO:0032991 macromolecular complex
GO:0045202 synapse


-  Descriptions from all associated GenBank mRNAs
  BC031058 - Homo sapiens cDNA clone IMAGE:5278559, containing frame-shift errors.
AF243385 - Homo sapiens beta-2 syntrophin mRNA, complete cds, alternatively spliced.
U40572 - Human beta2-syntrophin (SNT B2) mRNA, complete cds.
BC048215 - Homo sapiens syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2), mRNA (cDNA clone MGC:52142 IMAGE:5805707), complete cds.
EU831538 - Synthetic construct Homo sapiens clone HAIB:100066567; DKFZo004E0318 syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2) protein (SNTB2) gene, encodes complete protein.
EU831451 - Synthetic construct Homo sapiens clone HAIB:100066480; DKFZo008E0317 syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2) protein (SNTB2) gene, encodes complete protein.
JD024276 - Sequence 5300 from Patent EP1572962.
JD036333 - Sequence 17357 from Patent EP1572962.
JD043593 - Sequence 24617 from Patent EP1572962.
JD449443 - Sequence 430467 from Patent EP1572962.
JD115046 - Sequence 96070 from Patent EP1572962.
JD106582 - Sequence 87606 from Patent EP1572962.
JD565188 - Sequence 546212 from Patent EP1572962.
JD118095 - Sequence 99119 from Patent EP1572962.
JD343700 - Sequence 324724 from Patent EP1572962.
JD257098 - Sequence 238122 from Patent EP1572962.
JD376582 - Sequence 357606 from Patent EP1572962.
JD342708 - Sequence 323732 from Patent EP1572962.
JD239815 - Sequence 220839 from Patent EP1572962.
JD359827 - Sequence 340851 from Patent EP1572962.
JD061005 - Sequence 42029 from Patent EP1572962.
JD023184 - Sequence 4208 from Patent EP1572962.
JD029988 - Sequence 11012 from Patent EP1572962.
JD031683 - Sequence 12707 from Patent EP1572962.
JD407538 - Sequence 388562 from Patent EP1572962.
JD212979 - Sequence 194003 from Patent EP1572962.
JD463067 - Sequence 444091 from Patent EP1572962.
JD099410 - Sequence 80434 from Patent EP1572962.
JD321516 - Sequence 302540 from Patent EP1572962.
JD131580 - Sequence 112604 from Patent EP1572962.
JD206746 - Sequence 187770 from Patent EP1572962.
JD182707 - Sequence 163731 from Patent EP1572962.
JD533799 - Sequence 514823 from Patent EP1572962.
JD095250 - Sequence 76274 from Patent EP1572962.
JD321739 - Sequence 302763 from Patent EP1572962.
JD507518 - Sequence 488542 from Patent EP1572962.
JD065757 - Sequence 46781 from Patent EP1572962.
JD236396 - Sequence 217420 from Patent EP1572962.
JD346739 - Sequence 327763 from Patent EP1572962.
JD357177 - Sequence 338201 from Patent EP1572962.
JD473343 - Sequence 454367 from Patent EP1572962.
JD363257 - Sequence 344281 from Patent EP1572962.
JD531791 - Sequence 512815 from Patent EP1572962.
JD189445 - Sequence 170469 from Patent EP1572962.
DQ589923 - Homo sapiens piRNA piR-57035, complete sequence.
JD363052 - Sequence 344076 from Patent EP1572962.
JD323735 - Sequence 304759 from Patent EP1572962.
JD520881 - Sequence 501905 from Patent EP1572962.
JD234849 - Sequence 215873 from Patent EP1572962.
JD507672 - Sequence 488696 from Patent EP1572962.
BC035134 - Homo sapiens cDNA clone IMAGE:5263917.
JD291120 - Sequence 272144 from Patent EP1572962.
JD367220 - Sequence 348244 from Patent EP1572962.
JD325900 - Sequence 306924 from Patent EP1572962.
JD153106 - Sequence 134130 from Patent EP1572962.
JD527566 - Sequence 508590 from Patent EP1572962.
JD160978 - Sequence 142002 from Patent EP1572962.
JD246346 - Sequence 227370 from Patent EP1572962.
JD139195 - Sequence 120219 from Patent EP1572962.
JD541328 - Sequence 522352 from Patent EP1572962.
DQ589887 - Homo sapiens piRNA piR-56999, complete sequence.
JD545611 - Sequence 526635 from Patent EP1572962.
JD110455 - Sequence 91479 from Patent EP1572962.
JD199169 - Sequence 180193 from Patent EP1572962.
JD156211 - Sequence 137235 from Patent EP1572962.
JD432227 - Sequence 413251 from Patent EP1572962.
JD090332 - Sequence 71356 from Patent EP1572962.
JD549043 - Sequence 530067 from Patent EP1572962.
JD437434 - Sequence 418458 from Patent EP1572962.
JD168480 - Sequence 149504 from Patent EP1572962.
JD469961 - Sequence 450985 from Patent EP1572962.
JD407913 - Sequence 388937 from Patent EP1572962.
JD259983 - Sequence 241007 from Patent EP1572962.
JD432720 - Sequence 413744 from Patent EP1572962.
JD182745 - Sequence 163769 from Patent EP1572962.
JD174920 - Sequence 155944 from Patent EP1572962.
BC036429 - Homo sapiens cDNA clone IMAGE:4801045.
JD054353 - Sequence 35377 from Patent EP1572962.
JD244768 - Sequence 225792 from Patent EP1572962.
JD507931 - Sequence 488955 from Patent EP1572962.
JD157398 - Sequence 138422 from Patent EP1572962.
JD296129 - Sequence 277153 from Patent EP1572962.
JD532768 - Sequence 513792 from Patent EP1572962.
JD291983 - Sequence 273007 from Patent EP1572962.
JD350366 - Sequence 331390 from Patent EP1572962.
JD543348 - Sequence 524372 from Patent EP1572962.
JD478636 - Sequence 459660 from Patent EP1572962.
JD463891 - Sequence 444915 from Patent EP1572962.
JD421833 - Sequence 402857 from Patent EP1572962.
JD386216 - Sequence 367240 from Patent EP1572962.
JD376722 - Sequence 357746 from Patent EP1572962.
JD376820 - Sequence 357844 from Patent EP1572962.
JD259110 - Sequence 240134 from Patent EP1572962.
JD417583 - Sequence 398607 from Patent EP1572962.
JD258491 - Sequence 239515 from Patent EP1572962.
JD411806 - Sequence 392830 from Patent EP1572962.
JD410064 - Sequence 391088 from Patent EP1572962.
JD501881 - Sequence 482905 from Patent EP1572962.
JD379132 - Sequence 360156 from Patent EP1572962.
JD359907 - Sequence 340931 from Patent EP1572962.
JD504214 - Sequence 485238 from Patent EP1572962.
JD030183 - Sequence 11207 from Patent EP1572962.
JD257068 - Sequence 238092 from Patent EP1572962.
JD086193 - Sequence 67217 from Patent EP1572962.
JD266738 - Sequence 247762 from Patent EP1572962.
LF374373 - JP 2014500723-A/181876: Polycomb-Associated Non-Coding RNAs.
JD093985 - Sequence 75009 from Patent EP1572962.
JD330563 - Sequence 311587 from Patent EP1572962.
JD237034 - Sequence 218058 from Patent EP1572962.
JD083608 - Sequence 64632 from Patent EP1572962.
JD361907 - Sequence 342931 from Patent EP1572962.
JD166447 - Sequence 147471 from Patent EP1572962.
JD563480 - Sequence 544504 from Patent EP1572962.
JD103194 - Sequence 84218 from Patent EP1572962.
JD401917 - Sequence 382941 from Patent EP1572962.
JD466056 - Sequence 447080 from Patent EP1572962.
JD040459 - Sequence 21483 from Patent EP1572962.
JD295551 - Sequence 276575 from Patent EP1572962.
JD491409 - Sequence 472433 from Patent EP1572962.
JD409237 - Sequence 390261 from Patent EP1572962.
LF374375 - JP 2014500723-A/181878: Polycomb-Associated Non-Coding RNAs.
JD270372 - Sequence 251396 from Patent EP1572962.
JD327968 - Sequence 308992 from Patent EP1572962.
JD404270 - Sequence 385294 from Patent EP1572962.
JD294845 - Sequence 275869 from Patent EP1572962.
JD556078 - Sequence 537102 from Patent EP1572962.
LF374377 - JP 2014500723-A/181880: Polycomb-Associated Non-Coding RNAs.
MA609950 - JP 2018138019-A/181876: Polycomb-Associated Non-Coding RNAs.
MA609952 - JP 2018138019-A/181878: Polycomb-Associated Non-Coding RNAs.
MA609954 - JP 2018138019-A/181880: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: D16S2531E, ENST00000336278.1, ENST00000336278.2, ENST00000336278.3, ENST00000336278.4, ENST00000336278.5, ENST00000336278.6, ENST00000336278.7, ENST00000336278.8, NR_172090, Q13425, Q9BY09, SNT2B2, SNTB2_HUMAN, SNTL, uc317umf.1, uc317umf.2
UCSC ID: ENST00000336278.9_4
RefSeq Accession: NM_006750.4
Protein: Q13425 (aka SNTB2_HUMAN or SNB2_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.