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

Gene ID: 23271, updated on 2-Nov-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 Golgi apparatus; cytosol; and microtubule cytoskeleton. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in brain (RPKM 24.6), thyroid (RPKM 11.0) and 23 other tissues See more
Orthologs
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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_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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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. 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
  3. The potential role of CAMSAP1L1 in symptomatic epilepsy. Zhang S, et al. Neurosci Lett, 2013 Nov 27. PMID 24148305
  4. CAMSAP2 and CAMSAP3 localize at microtubule intersections to regulate the spatial distribution of microtubules. Zhang R, et al. J Mol Cell Biol, 2024 Jan 17. PMID 37567766, 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 (61) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. CAMSAP2 and CAMSAP3 localize at microtubule intersections to regulate the spatial distribution of microtubules.
    Title: CAMSAP2 and CAMSAP3 localize at microtubule intersections to regulate the spatial distribution of microtubules.
  2. CAMSAP2 enhances lung cancer cell metastasis by mediating RASAL2 degradation.
    Title: CAMSAP2 enhances lung cancer cell metastasis by mediating RASAL2 degradation.
  3. [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].
  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.
    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.
  5. A chemical genetics approach to examine the functions of AAA proteins.
    Title: A chemical genetics approach to examine the functions of AAA proteins.
  6. CAMSAP2-mediated noncentrosomal microtubule acetylation drives hepatocellular carcinoma metastasis.
    Title: CAMSAP2-mediated noncentrosomal microtubule acetylation drives hepatocellular carcinoma metastasis.
  7. 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.
  8. noncentrosomal MTs regulate autophagy through a cross-talk between CAMSAP2 and EB1
    Title: Noncentrosomal microtubules regulate autophagosome transport through CAMSAP2-EB1 cross-talk.
  9. 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.
  10. 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.
Submit: New GeneRIF Correction See all GeneRIFs (13)

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, ENST00000236925.9
    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

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
Molecular Biology Databases
Research Materials
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