SPTBN5 Gene
protein-coding GIFtS: 52
GCID: GC15M042140
|
|
spectrin, beta, non-erythrocytic 5
| |
Aliases
for SPTBN5 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Spectrin, Beta, Non-Erythrocytic 51 2 | | Beta V Spectrin2 | | BSPECV1 2 3 5 | | Spectrin Beta Chain, Brain 42 | | HUBSPECV1 2 3 | | Spectrin Beta Chain, Non-Erythrocytic 52 | | HUSPECV1 2 3 | | Spectrin, Non-Erythroid Beta Chain 42 | | Beta-V Spectrin2 3 | | |
Export aliases for SPTBN5 gene to outside databasesPrevious GC identifers: GC15M037508 GC15M035036 GC15M039719 GC15M039856 GC15M039927 GC15M018988 |
Summaries
for SPTBN5 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Gene Wiki entry for SPTBN5
|
Genomic Views
for SPTBN5 gene
(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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000015.9 NC_018926.1 NT_010194.17
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the SPTBN5 gene promoter:
p53 AML1a AP-1 Lmo2 E47 HEN1 PPAR-gamma1 HOXA5 PPAR-gamma2
Other transcription factors
Search SABiosciences Chromatin IP Primers for SPTBN5
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SPTBN5 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 15q21 Ensembl cytogenetic band: 15q15.1 HGNC cytogenetic band: 15q21SPTBN5 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 15 GeneLoc Exon Structure GeneLoc location for GC15M042140: view genomic region
(about GC identifiers)
Start:
|
42,140,344 bp from pter |
End:
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42,186,275 bp from pter |
Size:
|
45,932 bases |
Orientation:
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minus strand |
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Proteins
for SPTBN5 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: SPTN5_HUMAN, Q9NRC6 (See
protein sequence)Recommended Name: Spectrin beta chain, non-erythrocytic 5 Size: 3674 amino acids; 416835 Da
Subunit: Probably associates with an alpha chain. Interacts (via C-terminus) with TRPC4
Subcellular location: Cytoplasm, cytoskeleton. Note=Detected prominently in the outer segments of photoreceptor rodsand cones and in the basolateral membrane and cytosol of gastric epithelial cellsExplore the universe of human proteins at neXtProt for SPTBN5: NX_Q9NRC6
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9NRC6
SPTBN5 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_057726.3
ENSEMBL proteins: ENSP00000317790 Reactome Protein details: Q9NRC6
Human Recombinant Protein Products for SPTBN5:
Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table
SPTBN5 for ontologies About GeneDecksing
SPTBN5 Antibody Products:
Assay Products for SPTBN5: |
Protein
Domains /
Families
for SPTBN5 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
SPTBN5 for domains About GeneDecksing
5/6 InterPro domains/families (see all 6):Graphical View of Domain Structure for InterPro Entry Q9NRC6ProtoNet protein and cluster: Q9NRC6 5 Blocks protein families: IPB001589 Actin-binding IPB001605 Spectrin pleckstrin homology domain signature IPB001715 Calponin-like actin-binding IPB001849 Pleckstrin-like IPB002017 Spectrin repeat
UniProtKB/Swiss-Prot: SPTN5_HUMAN, Q9NRC6Similarity: Belongs to the spectrin familySimilarity: Contains 2 CH (calponin-homology) domainsSimilarity: Contains 1 PH domainSimilarity: Contains 31 spectrin repeats |
Function
for SPTBN5 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
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,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table
SPTBN5 for ontologies About GeneDecksing
Phenotypes:
2 GenomeRNAi human phenotypes for SPTBN5:
Animal Models:
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SPTBN5
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SPTBN5
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: SPTBN5 (NM_016642) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SPTBN5 | |  | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat SPTBN5 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPTBN5 |
|
Pathways & Interactions
for SPTBN5 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
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 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Axon guidance | | | 2 | Sertoli-Sertoli Cell Junction Dynamics | | | 3 | Interaction between L1 and Ankyrins | | | 4 | NCAM signaling for neurite out-growth | |
Pathway sources
See GeneCards unified pathways
Show all pathways
2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for SPTBN5
5 
Reactome Pathways for SPTBN5
SPTBN5 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SPTBN5
STRING Interaction
Network Preview (showing 5 interactants - click image to see 21)
5/23 Interacting proteins for SPTBN5 (Q9NRC63 ENSP000003177904) via UniProtKB, MINT, STRING, and/or I2D (see all 23)About this table
Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table
SPTBN5 for ontologies About GeneDecksing
|
Drugs & Compounds
for SPTBN5 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for SPTBN5
Search CenterWatch for drugs/clinical trials and news about SPTBN5 / SPTN5
|
Transcripts
for SPTBN5 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
Sirion Biotech,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for SPTBN5 gene: NM_016642.2 Unigene Cluster for SPTBN5: Spectrin, beta, non-erythrocytic 5 Hs.709819 [show with all ESTs]Unigene Representative Sequence: NM_0166422 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000320955(uc001zos.3) ENST00000563899
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SPTBN5
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SPTBN5
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: SPTBN5 (NM_016642) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SPTBN5 | | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat SPTBN5 |
Additional cDNA sequence: AF233523.1 3 DOTS entries: DT.424718 DT.121078107 DT.100742164 24/31 AceView cDNA sequences (see all 31): AF233523 BM710337 CA397858 BM699324 BM695591 AI743728 BF221661 NM_016642 BX100198 BF055283 AA599654 BQ640120 W95287 BM669540 W95544 R84914 AI803545 BF515053 BQ638295 BQ636533 AA020813 BQ638767 H87737 AA021475
GeneLoc Exon Structure
|
Expression
for SPTBN5 gene
(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
| SPTBN5 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GCCCTTCTCA
About this image
See SPTBN5 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SPTBN5
SOURCE GeneReport for Unigene cluster: Hs.709819
UniProtKB/Swiss-Prot: SPTN5_HUMAN, Q9NRC6Tissue specificity: Expressed at very low levels in many tissues, with strongest expression in cerebellum, spinal cord,stomach, pituitary gland, liver, pancreas, salivary gland, kidney, bladder, and heart
SABiosciences Custom PCR Arrays for SPTBN5
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SPTBN5
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SPTBN5 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SPTBN5 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SPTBN5 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPTBN5 |
Orthologs
for SPTBN5 gene
(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 SPTBN5 gene from 5/20 species (see all 20) About this table
ENSEMBL Gene Tree for SPTBN5 (if available)
TreeFam Gene Tree for SPTBN5 (if available) |
Paralogs
for SPTBN5 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for SPTBN5 gene
- ACTN42 SPTBN22 SPTA12 SYNE22 SPTBN42 SPTBN12 SPTB2 ACTN22
- SPTAN12 ACTN12 SYNE12 CLMN2
1 SIMAP similar gene for SPTBN5 using alignment to 1 protein entry: SPTN5_HUMAN:DKFZp434J0328
SPTBN5 for paralogs About GeneDecksing
|
Genomic Variants
for SPTBN5 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 15 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for SPTBN5 (42140344 - 42186275 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for SPTBN5
2 CNVs: 49553 30707
Human Gene Mutation Database (HGMD): SPTBN5
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SPTBN5 |
|
Disorders
/ Diseases
for SPTBN5 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
SPTBN5 for disorders About GeneDecksing
OMIM gene information: 605916
OMIM disorders: --
3  diseases for SPTBN5: About MalaCardsmacular holes proliferative diabetic retinopathy diabetic retinopathy
1 disease from the University of Copenhagen DISEASES database for SPTBN5:Macular holes Human Genome Epidemiology (HuGE) Navigator: SPTBN5 (3 documents)
Export disorders for SPTBN5 gene to outside databases
|
Publications
for SPTBN5 gene (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 SPTBN5 gene integrated from 9 sources:
(articles sorted by number of sources associating them with SPTBN5) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Identification and characterization of beta V spectrin, a mammalian ortholog of Drosophila beta H spectrin. (PubMed id 10764729)1, 2, 3, 9 Stabach P.R. and Morrow J.S. (2000)
- The spectrin cytoskeleton influences the surface expression and activation of human transient receptor potential channel 4 channels. (PubMed id 18048348)1, 2, 9 Odell A.F....Scott J.L. (2008)
- Assessment of a polymorphism of SDK1 with hypertensio n in Japanese Individuals. (PubMed id 19851296)1 Oguri M....Yamada Y. (2010)
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
- Association of genetic variants with ischemic stroke in Japanese individuals with or without metabolic syndrome. (PubMed id 20043139)1 Yoshida T....Yamada Y. (2010)
- Association of genetic variants with hemorrhagic stro ke in Japanese individuals. (PubMed id 20198315)1 Yoshida T....Yamada Y. (2010)
- Organization of focal adhesion plaques is disrupted by action of the HIV-1 protease. (PubMed id 12119179)1 Shoeman R.L....Traub P. (2002)
- Human Sos1: a guanine nucleotide exchange factor for Ras that binds to GRB2. (PubMed id 8493579)1 Chardin P....Bar-Sagi D. (1993)
- Differential expression of vitreous proteins in proliferative diabetic retinopathy. (PubMed id 16531280)9 Kim S.J....Kim Y. (2006)
|
External Searches for SPTBN5 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing SPTBN5 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing SPTBN5 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing SPTBN5 gene(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
|
| Name | Description |
| PharmGKB entry for SPTBN5 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for SPTBN5 gene:
Search GeneIP for patents involving SPTBN5
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for SPTBN5 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for SPTBN5 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SPTBN5 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SPTBN5 | | | Browse OriGene Protein Over-expression Lysates | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for SPTBN5 | | Browse 3'-UTR reporter clones for miRNA target validation | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SPTBN5 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SPTBN5 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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| |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat SPTBN5 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SPTBN5 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SPTBN5 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SPTBN5 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SPTBN5 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SPTBN5 |
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| |  |  |  |  | | | | |
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 |
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 | | | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPTBN5 |
|  |  |  |  | | | | Search ThermoFisher Antibodies for SPTBN5 |
| | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat SPTBN5 |
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