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    CAMSAP2 calmodulin regulated spectrin associated protein family member 2 [ Homo sapiens (human) ]

    Gene ID: 23271, updated on 5-May-2024

    Summary

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    Official Symbol
    CAMSAP2provided by HGNC
    Official Full Name
    calmodulin regulated spectrin associated protein family member 2provided by HGNC
    Primary source
    HGNC:HGNC:29188
    See related
    Ensembl:ENSG00000118200 MIM:613775; AllianceGenome:HGNC:29188
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CAMSAP1L1
    Summary
    Enables microtubule minus-end binding activity. Involved in several processes, including axon development; regulation of dendrite development; and regulation of organelle organization. Located in cytosol and microtubule end. Colocalizes with Golgi apparatus; centrosome; and microtubule minus-end. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in brain (RPKM 24.6), thyroid (RPKM 11.0) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CAMSAP2 in Genome Data Viewer
    Location:
    1q32.1
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (200738893..200860704)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (199995917..200117682)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (200708021..200829832)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1673 Neighboring gene kinesin family member 14 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:200589147-200589648 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1674 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:200607918-200608633 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:200608609-200609808 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2301 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1675 Neighboring gene DEAD-box helicase 59 Neighboring gene DDX59 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2302 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1676 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1677 Neighboring gene MPRA-validated peak646 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:200735945-200736445 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2303 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1678 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:200842161-200842803 Neighboring gene ribosomal protein L34 pseudogene 6 Neighboring gene G protein-coupled receptor 25

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. CAMSAP2-mediated noncentrosomal microtubule acetylation drives hepatocellular carcinoma metastasis. Li D, et al. Theranostics, 2020. PMID 32206120, Free PMC Article
    2. The potential role of CAMSAP1L1 in symptomatic epilepsy. Zhang S, et al. Neurosci Lett, 2013 Nov 27. PMID 24148305
    3. Two-stage genome-wide association study identifies variants in CAMSAP1L1 as susceptibility loci for epilepsy in Chinese. Guo Y, et al. Hum Mol Genet, 2012 Mar 1. PMID 22116939
    4. CircRNA SOD2 motivates non-small cell lungs cancer advancement with EMT via acting as microRNA-2355-5p's competing endogenous RNA to mediate calmodulin regulated spectrin associated proteins-2. Lv C, et al. Bioengineered, 2022 Mar. PMID 35188072, Free PMC Article
    5. A chemical genetics approach to examine the functions of AAA proteins. Cupido T, et al. Nat Struct Mol Biol, 2021 Apr. PMID 33782614, Free PMC Article

    See all (56) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CAMSAP2 enhances lung cancer cell metastasis by mediating RASAL2 degradation.
      Title: CAMSAP2 enhances lung cancer cell metastasis by mediating RASAL2 degradation.
    2. [High expression of CAMSAP2 promotes invasion and metastasis of gastric cancer cells by upregulating TGF-beta signaling].
      Title: [High expression of CAMSAP2 promotes invasion and metastasis of gastric cancer cells by upregulating TGF-β signaling].
    3. CircRNA SOD2 motivates non-small cell lungs cancer advancement with EMT via acting as microRNA-2355-5p's competing endogenous RNA to mediate calmodulin regulated spectrin associated proteins-2.
      Title: CircRNA SOD2 motivates non-small cell lungs cancer advancement with EMT via acting as microRNA-2355-5p's competing endogenous RNA to mediate calmodulin regulated spectrin associated proteins-2.
    4. A chemical genetics approach to examine the functions of AAA proteins.
      Title: A chemical genetics approach to examine the functions of AAA proteins.
    5. CAMSAP2-mediated noncentrosomal microtubule acetylation drives hepatocellular carcinoma metastasis.
      Title: CAMSAP2-mediated noncentrosomal microtubule acetylation drives hepatocellular carcinoma metastasis.
    6. Microtubule Minus-End Binding Protein CAMSAP2 and Kinesin-14 Motor KIFC3 Control Dendritic Microtubule Organization.
      Title: Microtubule Minus-End Binding Protein CAMSAP2 and Kinesin-14 Motor KIFC3 Control Dendritic Microtubule Organization.
    7. noncentrosomal MTs regulate autophagy through a cross-talk between CAMSAP2 and EB1
      Title: Noncentrosomal microtubules regulate autophagosome transport through CAMSAP2-EB1 cross-talk.
    8. The CAMSAP/Nezha/Patronin family protein CAMSAP2 specifically localizes to noncentrosomal microtubule minus-ends and is required for proper microtubule organization in neurons.
      Title: Microtubule minus-end binding protein CAMSAP2 controls axon specification and dendrite development.
    9. These results show that members of the CAMSAP/Patronin family all localize to and protect minus-ends but have evolved distinct effects on microtubule dynamics.
      Title: Regulation of microtubule minus-end dynamics by CAMSAPs and Patronin.
    10. the rs2292096 G allele of CAMSAP1L1, which was associated with reduced risk of symptomatic epilepsy, tended to associate with increased expression of CAMSAP1L1, which represses neurite outgrowth.
      Title: The potential role of CAMSAP1L1 in symptomatic epilepsy.
    Submit: New GeneRIF Correction See all GeneRIFs (12)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Two-stage genome-wide association study identifies variants in CAMSAP1L1 as susceptibility loci for epilepsy in Chinese.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA1078, MGC150680, MGC150681

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calmodulin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables microtubule minus-end binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables microtubule minus-end binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables spectrin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in axon development IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cytoplasmic microtubule organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in microtubule cytoskeleton organization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in microtubule cytoskeleton organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of microtubule depolymerization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of Golgi organization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of dendrite development IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of microtubule polymerization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of organelle organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    colocalizes_with Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    colocalizes_with centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in ciliary basal body ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in microtubule end IDA
    Inferred from Direct Assay
    more info
    		  
    colocalizes_with microtubule minus-end IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    colocalizes_with microtubule minus-end IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    calmodulin-regulated spectrin-associated protein 2
    Names
    calmodulin-regulated spectrin-associated protein 1-like protein 1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001297707.3 → NP_001284636.1  calmodulin-regulated spectrin-associated protein 2 isoform 1

      See identical proteins and their annotated locations for NP_001284636.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AL450104
      Consensus CDS
      CCDS72998.1
      UniProtKB/Swiss-Prot
      B1APG6, Q08AD1, Q08AD2, Q6PGN8, Q96FB3, Q9UG20, Q9UPS4
      Related
      ENSP00000236925.4, ENST00000236925.8
      Conserved Domains (3) summary
      pfam08683
      Location:1350 → 1468
      CAMSAP_CKK; Microtubule-binding calmodulin-regulated spectrin-associated
      pfam11971
      Location:237 → 315
      CAMSAP_CH; CAMSAP CH domain
      pfam17095
      Location:754 → 804
      CAMSAP_CC1; Spectrin-binding region of Ca2+-Calmodulin

    2. NM_001297708.3 → NP_001284637.1  calmodulin-regulated spectrin-associated protein 2 isoform 3

      See identical proteins and their annotated locations for NP_001284637.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon and uses an alternate in-frame splice site, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
      Source sequence(s)
      AL450104
      Consensus CDS
      CCDS72999.1
      UniProtKB/Swiss-Prot
      Q08AD1
      UniProtKB/TrEMBL
      B3KTI4
      Related
      ENSP00000416800.2, ENST00000413307.6
      Conserved Domains (3) summary
      pfam08683
      Location:1323 → 1441
      CAMSAP_CKK; Microtubule-binding calmodulin-regulated spectrin-associated
      pfam11971
      Location:226 → 304
      CAMSAP_CH; CAMSAP CH domain
      pfam17095
      Location:727 → 777
      CAMSAP_CC1; Spectrin-binding region of Ca2+-Calmodulin

    3. NM_001389638.1 → NP_001376567.1  calmodulin-regulated spectrin-associated protein 2 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AL450104
      Conserved Domains (4) summary
      PHA03247
      Location:916 → 1125
      PHA03247; large tegument protein UL36; Provisional
      pfam11971
      Location:237 → 315
      CAMSAP_CH; CAMSAP CH domain
      pfam08683
      Location:1334 → 1452
      CAMSAP_CKK; Microtubule-binding calmodulin-regulated spectrin-associated
      pfam17095
      Location:738 → 788
      CAMSAP_CC1; Spectrin-binding region of Ca2+-Calmodulin

    4. NM_203459.4 → NP_982284.1  calmodulin-regulated spectrin-associated protein 2 isoform 2

      See identical proteins and their annotated locations for NP_982284.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AL450104
      Consensus CDS
      CCDS1404.1
      UniProtKB/Swiss-Prot
      Q08AD1
      UniProtKB/TrEMBL
      B3KTI4
      Related
      ENSP00000351684.2, ENST00000358823.7
      Conserved Domains (3) summary
      pfam08683
      Location:1339 → 1457
      CAMSAP_CKK; Microtubule-binding calmodulin-regulated spectrin-associated
      pfam11971
      Location:226 → 304
      CAMSAP_CH; CAMSAP CH domain
      pfam17095
      Location:743 → 793
      CAMSAP_CC1; Spectrin-binding region of Ca2+-Calmodulin

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      200738893..200860704
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017000799.2 → XP_016856288.1  calmodulin-regulated spectrin-associated protein 2 isoform X1

    2. XM_047416200.1 → XP_047272156.1  calmodulin-regulated spectrin-associated protein 2 isoform X2

    3. XM_047416203.1 → XP_047272159.1  calmodulin-regulated spectrin-associated protein 2 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      199995917..200117682
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054335487.1 → XP_054191462.1  calmodulin-regulated spectrin-associated protein 2 isoform X1

    2. XM_054335488.1 → XP_054191463.1  calmodulin-regulated spectrin-associated protein 2 isoform X2

    3. XM_054335489.1 → XP_054191464.1  calmodulin-regulated spectrin-associated protein 2 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q08AD1.3 GenPept UniProtKB/Swiss-Prot:Q08AD1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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