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SRGAP2B Gene

pseudogene   GIFtS: 17
GCID: GC01P143915

SLIT-ROBO Rho GTPase Activating Protein 2B

(Previous names: SLIT-ROBO Rho GTPase activating protein 2 pseudogene 2,...)
(Previous symbol: SRGAP2P2)
  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
SLIT-ROBO Rho GTPase Activating Protein 2B1 2
SRGAP2P21 2
SLIT-ROBO Rho GTPase Activating Protein 2 Pseudogene 21 2
SLIT-ROBO Rho GTPase Activating Protein 2B (Pseudogene)1 2
SRGAP2L2

External Ids:    HGNC: 352371   Entrez Gene: 6471352   Ensembl: ENSG000001963697   OMIM: 6147035   

Export aliases for SRGAP2B gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SRGAP2B Gene:
This locus encodes a member of the SLIT-ROBO Rho GTPase activating protein family. This human-specific locus
resulted from incomplete segmental duplication of the SLIT-ROBO Rho GTPase activating protein 2 locus. The
encoded protein lacks the GTPase activating protein domain compared to proteins encoded by SLIT-ROBO Rho GTPase
activating protein 2. The functionality of the protein encoded by this locus has been questioned, as several
normal individuals with homozygous deletions for this locus have been identified, and the expression of this
locus appears to be much lower than the similar SLIT-ROBO Rho GTPase activating protein 2C (SRGAP2C) locus. The
SRGAP2C locus has been shown to encode a protein that functions antagonistically to SLIT-ROBO Rho GTPase
activating protein 2 in cortical neuron development. (provided by RefSeq, Dec 2012)

GeneCards Summary for SRGAP2B Gene:
SRGAP2B (SLIT-ROBO Rho GTPase activating protein 2B) is a pseudogene. Diseases associated with SRGAP2B include neuronitis.




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Search for regulatory transcription factor binding sites for SRGAP2B
         Other transcription factors

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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SRGAP2B


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

Entrez Gene cytogenetic band: 1q21.1   Ensembl cytogenetic band:  1q21.1   HGNC cytogenetic band: 1q21.1

SRGAP2B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SRGAP2B gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P143915:  view genomic region     (about GC identifiers)

Start:
143,913,615 bp from pter      End:
144,094,477 bp from pter
Size:
180,863 bases      Orientation:
plus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for SRGAP2B

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB: --
Explore proteomics data for SRGAP2B at MOPED


See SRGAP2B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_001258799.1  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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(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,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Animal Models:
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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(SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SRGAP2B
Interactions:

    Search GeneGlobe Interaction Network for SRGAP2B

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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(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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for SRGAP2B gene: 
NM_001271870.1  

4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000467933(uc010oxm.1) ENST00000463366 ENST00000494534 ENST00000491897

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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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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SRGAP2B expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
SRGAP2B Expression
About this image

SRGAP2B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

SRGAP2B Protein Expression
    Custom PCR Arrays for SRGAP2B
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In Situ
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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)
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ENSEMBL Gene Tree for SRGAP2B (if available)
TreeFam Gene Tree for SRGAP2B (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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(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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for SRGAP2B (see all 1455)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 1 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs3758318611,2
C--143915182(+) GCCCCC/GCCCCC 1 -- us2k10--------
rs1831206101,2
--143915206(+) GCTGCC/TAAGAG 1 -- us2k10--------
rs1920309471,2
C--143917129(+) GACCTA/GTCTTC 1 -- int10--------
rs1996986441,2
C--143917186(+) TAGCG-/TTTTTT 1 -- int10--------
rs2000185771,2
--143918455(+) TCTCA-/AT    
   TCTCT
ATTCT
1 -- int10--------
rs3749461761,2
C--143918910(+) GAATTG/TGAGAC 1 -- int10--------
rs1878259491,2
--143918945(+) CTCTGC/TCCCCC 1 -- int10--------
rs3761648391,2
C--143919563(+) GGTTCA/GCCTGT 1 -- int10--------
rs1442675091,2
C--143919707(+) ACCTGC/TTTGCA 1 -- int10--------
rs93311691,2
C--143919849(-) GGAATC/GTGGGC 1 -- int10--------

HapMap Linkage Disequilibrium report for SRGAP2B (143913615 - 144094477 bp)

Structural Variations
      Database of Genomic Variants (DGV) variations for SRGAP2B: --
Site Specific Mutation Identification with PCR Assays
Search QIAGEN SeqTarget long-range PCR primers for resequencing SRGAP2B
DNA2.0 Custom Variant and Variant Library Synthesis for SRGAP2B

(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.)
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OMIM gene information: 614703    OMIM disorders: --

1 disease for SRGAP2B:    
About MalaCards
neuronitis


SRGAP2B for disorders           About GeneDecksing


Export disorders for SRGAP2B 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)
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PubMed articles for SRGAP2B gene integrated from 10 sources:
(articles sorted by number of sources associating them with SRGAP2B)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Inhibition of SRGAP2 function by its human-specific paralogs induces neoteny during spine maturation. (PubMed id 22559944)1, 3 Charrier C....Polleux F. (Cell 2012)
  2. Evolution of human-specific neural SRGAP2 genes by incomplete segmental duplication. (PubMed id 22559943)1, 3 Dennis M.Y....Eichler E.E. (Cell 2012)
  3. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 647135 HGNC: 35237 Ensembl:ENSG00000196369 euGenes: HUgn647135 ECgene: SRGAP2B
H-InvDB: SRGAP2B

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for SRGAP2B gene:
Search GeneIP for patents involving SRGAP2B

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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