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

    Gene ID: 23271, updated on 10-Dec-2024

    Summary

    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 Golgi apparatus; cytosol; and microtubule cytoskeleton. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in brain (RPKM 24.6), thyroid (RPKM 11.0) and 23 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See CAMSAP2 in Genome Data Viewer
    Location:
    1q32.1
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (200738893..200860704)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (199995917..200117682)
    RS_2024_09 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

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (29 hits/1261 screens)

    EBI GWAS Catalog

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

    Interactions

    General gene information

    Clone Names

    • KIAA1078, MGC150680, MGC150681

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calmodulin binding  
    enables microtubule minus-end binding  
    enables microtubule minus-end binding PubMed 
    enables protein binding PubMed 
    enables spectrin binding  
    Component Evidence Code Pubs
    colocalizes_with Golgi apparatus PubMed 
    colocalizes_with centrosome PubMed 
    located_in ciliary basal body  
    located_in cytosol  
    located_in microtubule end  
    colocalizes_with microtubule minus-end  
    colocalizes_with microtubule minus-end PubMed 

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    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, ENST00000236925.9
      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_2024_08

    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

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