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

CAMSAP2 Gene

protein-coding   GIFtS: 46
GCID: GC01P200709

Calmodulin Regulated Spectrin-Associated Protein Family,...

(Previous name: calmodulin regulated spectrin-associated protein 1-like...)
(Previous symbol: CAMSAP1L1)
  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)
About This Section

Aliases
Calmodulin Regulated Spectrin-Associated Protein Family, Member 21 2
CAMSAP1L11 2 3
Calmodulin Regulated Spectrin-Associated Protein 1-Like 11 2
Calmodulin-Regulated Spectrin-Associated Protein 1-Like Protein 12 3
Calmodulin-Regulated Spectrin-Associated Protein 22
KIAA10783

External Ids:    HGNC: 291881   Entrez Gene: 232712   Ensembl: ENSG000001182007   OMIM: 6137755   UniProtKB: Q08AD13   

Export aliases for CAMSAP2 gene to outside databases


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

GeneCards Summary for CAMSAP2 Gene: 
CAMSAP2 (calmodulin regulated spectrin-associated protein family, member 2) is a protein-coding gene. Diseases associated with CAMSAP2 include choroiditis. GO annotations related to this gene include microtubule binding and protein binding. An important paralog of this gene is CAMSAP1.


(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_000001.10  NT_004487.19  NC_018912.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for CAMSAP2
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCAMSAP2 promoter sequence
   Search SABiosciences Chromatin IP Primers for CAMSAP2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CAMSAP2


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

Entrez Gene cytogenetic band: 1q32.1   Ensembl cytogenetic band:  1q32.1   HGNC cytogenetic band: 1q32

CAMSAP2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CAMSAP2 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P200709:  view genomic region     (about GC identifiers)

Start:
200,708,686 bp from pter      End:
200,829,832 bp from pter
Size:
121,147 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: CAMP2_HUMAN, Q08AD1 (See protein sequence)
Recommended Name: Calmodulin-regulated spectrin-associated protein 2  
Size: 1489 amino acids; 168089 Da
Subcellular location: Cytoplasm, cytoskeleton (Potential)
Sequence caution: Sequence=AAH56910.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: B1APG6 Q08AD2 Q6PGN8 Q96FB3 Q9UG20 Q9UPS4
Alternative splicing: 3 isoforms:  Q08AD1-1   Q08AD1-2   Q08AD1-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CAMSAP2: NX_Q08AD1

Explore proteomics data for CAMSAP2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q08AD1

  • CAMSAP2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CAMSAP2 Protein Expression
    REFSEQ proteins: NP_982284.1  
    ENSEMBL proteins: 
     ENSP00000351684   ENSP00000416800   ENSP00000236925   ENSP00000395365   ENSP00000434766  

    Human Recombinant Protein Products for CAMSAP2: 
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    Cloud-Clone Corp. Proteins for CAMSAP2 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005874microtubule IEA--

    CAMSAP2 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:
     IPR011033 PRC_barrel-like
     IPR001715 CH-domain
     IPR014797 CKK_domain

    Graphical View of Domain Structure for InterPro Entry Q08AD1

    ProtoNet protein and cluster: Q08AD1

    UniProtKB/Swiss-Prot: CAMP2_HUMAN, Q08AD1
    Domain: The CKK domain binds microtubules (By similarity)
    Similarity: Belongs to the CAMSAP1 family
    Similarity: Contains 1 CH (calponin-homology) domain
    Similarity: Contains 1 CKK domain


    CAMSAP2 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

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0008017microtubule binding IEA--
         
    CAMSAP2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for CAMSAP2:
     Increased number of cells in m 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for CAMSAP2 
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    SwitchGear 3'UTR luciferase reporter plasmidCAMSAP2 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CAMSAP2


    (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:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CAMSAP2

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    5/10 Interacting proteins for CAMSAP2 (Q08AD11, 3 ENSP000003516844) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EEF1DP296921, 3EBI-1051869,EBI-358607 I2D: score=1 
    YWHAGP619813, ENSP000003063304I2D: score=1 STRING: ENSP00000306330
    ATP5HO759473I2D: score=2 
    H2AFVQ71UI93I2D: score=2 
    NEDD8Q158433I2D: score=2 
    About this table

    (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 CAMSAP2 (CAMP2)

    Search CenterWatch for drugs/clinical trials and news about CAMSAP2 / CAMP2

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    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 CAMSAP2 gene: 
    NM_203459.1  

    Unigene Cluster for CAMSAP2:

    Calmodulin regulated spectrin-associated protein family, member 2
    Hs.23585  [show with all ESTs]
    Unigene Representative Sequence: NM_203459
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000358823(uc001gvk.3 uc001gvl.3 uc001gvm.3) ENST00000413307
    ENST00000236925 ENST00000532732 ENST00000447701 ENST00000475326
    miRNA
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    Inhib. RNA
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CAMSAP2
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    Additional mRNA sequence: 

    AB029001.2 AF087998.1 AK026348.1 AK095640.1 AK126821.1 AL110158.1 BC011385.1 BC029449.1 
    BC045721.1 BC056910.1 BC065508.1 BC125229.1 BC125230.1 

    9 DOTS entries:

    DT.453837  DT.100706453  DT.99988369  DT.100766693  DT.97788814  DT.70103338  DT.75101497  DT.95266531 
    DT.75170223 

    24/192 AceView cDNA sequences (see all 192):

    NM_203459 BM354157 AA243885 BC045721 CK820096 BG571189 BF434784 AA992387 
    AI912919 AA687882 AK095640 BG180254 BC029449 AW025927 CB124482 N20210 
    BM786794 BC065508 AW008233 BU619402 BE349890 AA146963 BM458937 BQ670614 

    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

    CAMSAP2 expression in normal human tissues (normalized intensities)      CAMSAP2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCACCAAAAA
    CAMSAP2 Expression
    About this image


    CAMSAP2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/37 selected tissues (see all 37) fully expand
     
     Brain (Nervous System)    fully expand to see all 13 entries
             Cerebral Cortex
             postcentral gyrus   
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             colon ; endothelial cells   

    See CAMSAP2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CAMSAP2

    SOURCE GeneReport for Unigene cluster: Hs.23585
        SABiosciences Custom PCR Arrays for CAMSAP2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CAMSAP2

    (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 CAMSAP2 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 Camsap21 , 5 calmodulin regulated spectrin-associated protein family, more1, 5 87.22(n)1
    93.43(a)1
      1 (59.61 cM)5
    678861  NM_001081360.11  NP_001074829.11 
     1362681235 
    chicken
    (Gallus gallus)
    Aves CAMSAP1L11 calmodulin regulated spectrin-associated protein 1-like more 79.96(n)
    85.25(a)
      424345  XM_422188.3  XP_422188.3 
    lizard
    (Anolis carolinensis)
    Reptilia CAMSAP26
    Uncharacterized protein
    78(a)
    1 ↔ 1
    GL343211.1(1909973-2024108)
    zebrafish
    (Danio rerio)
    Actinopterygii camsap21 calmodulin regulated spectrin-associated protein family, more 64.5(n)
    65.85(a)
      562741  NM_001044996.2  NP_001038461.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Patronin6
    Patronin
    14(a)
    1 → many
    2R(13406529-13423371)
    worm
    (Caenorhabditis elegans)
    Secernentea pqn-341 Protein PQN-34 43.36(n)
    30.07(a)
      181743  NM_078350.4  NP_510751.3 


    ENSEMBL Gene Tree for CAMSAP2 (if available)
    TreeFam Gene Tree for CAMSAP2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CAMSAP2 gene
    CAMSAP12  CAMSAP32  
    2 SIMAP similar genes for CAMSAP2 using alignment to 3 protein entries:     CAMP2_HUMAN (see all proteins):
    KIAA1543    CAMSAP1

    CAMSAP2 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

    10/2268 SNPs in CAMSAP2 are shown (see all 2268)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0383994
    A colorectal cancer sample4--see VAR_0383992 I L mis40--------
    rs1855146961,2
    --200706709(+) GCGTGA/GTGGTG 1 -- us2k10--------
    rs108007301,2
    C,F,A,H--200706763(+) TCGCTT/GGAGCC 1 -- us2k16Minor allele frequency- G:0.21NA WA EA 248
    rs730866141,2
    C,F--200706970(+) ACATGT/CAGTCC 1 -- us2k15Minor allele frequency- C:0.09WA NA EA 362
    rs1891143581,2
    --200707010(+) GGCACC/TGTATA 1 -- us2k10--------
    rs1817330821,2
    --200707064(+) ACCGAC/TAAGTA 1 -- us2k10--------
    rs109200171,2
    C,F,A,H--200707090(+) ACGATG/ATGACA 1 -- us2k124Minor allele frequency- A:0.23NS EA NA WA 2772
    rs1860824121,2
    --200707094(+) TGTGAA/CAGATG 1 -- us2k10--------
    rs730866171,2
    C,F--200707122(+) ACAGGG/TTGCTC 1 -- us2k15Minor allele frequency- T:0.09WA NA EA 362
    rs1920543801,2
    --200707317(+) GAAAAC/TAGAGA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for CAMSAP2 (200708686 - 200829832 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for CAMSAP2:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2721339CNV Deletion23290073
    esv1463839CNV Deletion17803354
    esv33174CNV Loss17666407
    nsv528910CNV Loss19592680
    nsv518356CNV Loss19592680
    nsv873097CNV Loss21882294
    nsv826176CNV Gain20364138
    nsv873096CNV Gain21882294
    nsv873098CNV Gain21882294
    nsv873095CNV Gain21882294

    SABiosciences Cancer Mutation PCR Assays
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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: 613775    OMIM disorders: --

    2 diseases for CAMSAP2:    About MalaCards
    choroiditis    


    CAMSAP2 for disorders           About GeneDecksing


    Export disorders for CAMSAP2 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 CAMSAP2 gene, integrated from 9 sources (see all 26):
    (articles sorted by number of sources associating them with CAMSAP2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The CKK domain (DUF1781) binds microtubules and defines the CAMSAP/ssp4 family of animal proteins. (PubMed id 19508979)1, 3 Baines A.J.... Phillips G.W. (2009)
    2. KIF14 is a candidate oncogene in the 1q minimal region of genomic gain in multiple cancers. (PubMed id 15897902)1, 3 Corson T.W.... Gallie B.L. (2005)
    3. Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10470851)1, 2 Kikuno R....Ohara O. (1999)
    4. Two-stage genome-wide association study identifies var iants in CAMSAP1L1 as susceptibility loci for epilepsy in Chinese. (PubMed id 22116939)1 Guo Y....Kwan P. (2012)
    5. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    6. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (2011)
    7. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    8. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (2010)
    9. A comprehensive resource of interacting protein region s for refining human transcription factor networks. (PubMed id 20195357)1 Miyamoto-Sato E....Yanagawa H. (2010)
    10. Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. (PubMed id 19413330)2 Gauci S....Mohammed S. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 23271 HGNC: 29188 AceView: KIAA1078 Ensembl:ENSG00000118200 euGenes: HUgn23271
    ECgene: CAMSAP2 H-InvDB: CAMSAP2

    (According to HUGE)
    About This Section
    HUGE: KIAA1078

    (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 CAMSAP2 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 CAMSAP2 gene:
    Search GeneIP for patents involving CAMSAP2

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



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