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Aliases for CAMSAP2 Gene

Aliases for CAMSAP2 Gene

  • Calmodulin Regulated Spectrin Associated Protein Family Member 2 2 3 5
  • Calmodulin-Regulated Spectrin-Associated Protein 1-Like Protein 1 3 4
  • CAMSAP1L1 3 4
  • Calmodulin Regulated Spectrin-Associated Protein Family, Member 2 2
  • Calmodulin Regulated Spectrin-Associated Protein 1-Like 1 2
  • Calmodulin-Regulated Spectrin-Associated Protein 2 3
  • KIAA1078 4

External Ids for CAMSAP2 Gene

Previous HGNC Symbols for CAMSAP2 Gene

  • CAMSAP1L1

Previous GeneCards Identifiers for CAMSAP2 Gene

  • GC01P200709

Summaries for CAMSAP2 Gene

GeneCards Summary for CAMSAP2 Gene

CAMSAP2 (Calmodulin Regulated Spectrin Associated Protein Family Member 2) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include microtubule binding and microtubule minus-end binding. An important paralog of this gene is CAMSAP1.

UniProtKB/Swiss-Prot for CAMSAP2 Gene

  • Key microtubule-organizing protein that specifically binds the minus-end of non-centrosomal microtubules and regulates their dynamics and organization (PubMed:23169647, PubMed:24486153, PubMed:24706919). Specifically recognizes growing microtubule minus-ends and autonomously decorates and stabilizes microtubule lattice formed by microtubule minus-end polymerization (PubMed:24486153, PubMed:24706919). Acts on free microtubule minus-ends that are not capped by microtubule-nucleating proteins or other factors and protects microtubule minus-ends from depolymerization (PubMed:24486153, PubMed:24706919). In addition, it also reduces the velocity of microtubule polymerization (PubMed:24486153, PubMed:24706919). Through the microtubule cytoskeleton, also regulates the organization of cellular organelles including the Golgi and the early endosomes (PubMed:27666745). Essential for the tethering, but not for nucleation of non-centrosomal microtubules at the Golgi: together with Golgi-associated proteins AKAP9 and PDE4DIP, required to tether non-centrosomal minus-end microtubules to the Golgi, an important step for polarized cell movement (PubMed:27666745). Also acts as a regulator of neuronal polarity and development: localizes to non-centrosomal microtubule minus-ends in neurons and stabilizes non-centrosomal microtubules, which is required for neuronal polarity, axon specification and dendritic branch formation (PubMed:24908486). Through the microtubule cytoskeleton, regulates the autophagosome transport (PubMed:28726242).

Additional gene information for CAMSAP2 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CAMSAP2 Gene

Genomics for CAMSAP2 Gene

GeneHancer (GH) Regulatory Elements for CAMSAP2 Gene

Promoters and enhancers for CAMSAP2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I200737 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 557.4 +0.5 465 4.3 CLOCK ARID4B NEUROD1 SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B YY1 ZNF213 CAMSAP2 PIR37471
GH01I201435 Enhancer 1.4 Ensembl ENCODE dbSUPER 27.9 +696.4 696411 0.9 HDGF CLOCK SMAD1 ARNT ZFP64 NEUROD1 SIN3A FEZF1 ZNF2 ZBTB7B IPO9 IPO9-AS1 ENSG00000224818 ENSG00000235121 CAMSAP2 RNPEP ENSG00000273478 DDX59 PHLDA3 LAD1
GH01I200890 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.2 +156.1 156077 10 PKNOX1 CLOCK FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF207 ZNF143 INAVA DDX59 MROH3P CAMSAP2 ENSG00000234132 CSRP1 IGFN1 TMEM9 GC01M200900
GH01I201635 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 11 +899.1 899130 6.9 YBX1 ZBTB7B ARID2 ZNF207 ATF7 FOS ZNF488 ZNF623 GMEB1 ZNF184 GC01M201635 RNPEP ENSG00000273478 DDX59 ENSG00000235121 RPS27P8 ELF3-AS1 ENSG00000224818 NAV1 CAMSAP2
GH01I201718 Enhancer 1.4 Ensembl ENCODE dbSUPER 9.8 +981.0 980990 4 PKNOX1 ATF1 ARNT FEZF1 ZNF2 IRF4 ZNF121 GLIS2 ZNF213 ZNF302 MIR5191 ENSG00000235121 IPO9 CAMSAP2 NAV1 GC01P201733 IPO9-AS1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CAMSAP2 on UCSC Golden Path with GeneCards custom track

Genomic Locations for CAMSAP2 Gene

Genomic Locations for CAMSAP2 Gene
chr1:200,739,558-200,860,707
(GRCh38/hg38)
Size:
121,150 bases
Orientation:
Plus strand
chr1:200,708,686-200,829,832
(GRCh37/hg19)

Genomic View for CAMSAP2 Gene

Genes around CAMSAP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CAMSAP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CAMSAP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CAMSAP2 Gene

Proteins for CAMSAP2 Gene

  • Protein details for CAMSAP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q08AD1-CAMP2_HUMAN
    Recommended name:
    Calmodulin-regulated spectrin-associated protein 2
    Protein Accession:
    Q08AD1
    Secondary Accessions:
    • B1APG6
    • Q08AD2
    • Q6PGN8
    • Q96FB3
    • Q9UG20
    • Q9UPS4

    Protein attributes for CAMSAP2 Gene

    Size:
    1489 amino acids
    Molecular mass:
    168089 Da
    Quaternary structure:
    • Interacts with CAMSAP3 (By similarity). Interacts with KATNA1 and KATNB1; leading to regulate the length of CAMSAP2-decorated microtubule stretches (PubMed:24486153). Interacts with a complex formed by AKAP9 and PDE4DIP; leading to recruit CAMSAP2 to the Golgi (PubMed:27666745). Interacts with MAPRE1/EB1 (PubMed:28726242).
    SequenceCaution:
    • Sequence=AAH56910.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for CAMSAP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CAMSAP2 Gene

Post-translational modifications for CAMSAP2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CAMSAP2 Gene

Domains & Families for CAMSAP2 Gene

Gene Families for CAMSAP2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

Q08AD1

UniProtKB/Swiss-Prot:

CAMP2_HUMAN :
  • The CKK domain binds microtubules and specifically recognizes the minus-end of microtubules (PubMed:24486153).
  • Belongs to the CAMSAP1 family.
Domain:
  • The CKK domain binds microtubules and specifically recognizes the minus-end of microtubules (PubMed:24486153).
  • The MBD (microtubule-binding domain) region can recognize some features of the microtubule lattice, which might contribute to the specific decoration of growing microtubule minus-ends by CAMSAP2.
Family:
  • Belongs to the CAMSAP1 family.
genes like me logo Genes that share domains with CAMSAP2: view

Function for CAMSAP2 Gene

Molecular function for CAMSAP2 Gene

UniProtKB/Swiss-Prot Function:
Key microtubule-organizing protein that specifically binds the minus-end of non-centrosomal microtubules and regulates their dynamics and organization (PubMed:23169647, PubMed:24486153, PubMed:24706919). Specifically recognizes growing microtubule minus-ends and autonomously decorates and stabilizes microtubule lattice formed by microtubule minus-end polymerization (PubMed:24486153, PubMed:24706919). Acts on free microtubule minus-ends that are not capped by microtubule-nucleating proteins or other factors and protects microtubule minus-ends from depolymerization (PubMed:24486153, PubMed:24706919). In addition, it also reduces the velocity of microtubule polymerization (PubMed:24486153, PubMed:24706919). Through the microtubule cytoskeleton, also regulates the organization of cellular organelles including the Golgi and the early endosomes (PubMed:27666745). Essential for the tethering, but not for nucleation of non-centrosomal microtubules at the Golgi: together with Golgi-associated proteins AKAP9 and PDE4DIP, required to tether non-centrosomal minus-end microtubules to the Golgi, an important step for polarized cell movement (PubMed:27666745). Also acts as a regulator of neuronal polarity and development: localizes to non-centrosomal microtubule minus-ends in neurons and stabilizes non-centrosomal microtubules, which is required for neuronal polarity, axon specification and dendritic branch formation (PubMed:24908486). Through the microtubule cytoskeleton, regulates the autophagosome transport (PubMed:28726242).

Phenotypes From GWAS Catalog for CAMSAP2 Gene

Gene Ontology (GO) - Molecular Function for CAMSAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 20195357
GO:0005516 calmodulin binding IEA --
GO:0008017 microtubule binding IEA --
GO:0030507 spectrin binding IEA --
GO:0051011 microtubule minus-end binding IDA 23169647
genes like me logo Genes that share ontologies with CAMSAP2: view

Phenotypes for CAMSAP2 Gene

genes like me logo Genes that share phenotypes with CAMSAP2: view

Animal Model Products

miRNA for CAMSAP2 Gene

miRTarBase miRNAs that target CAMSAP2

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CAMSAP2 Gene

Localization for CAMSAP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CAMSAP2 Gene

Cytoplasm, cytoskeleton. Golgi apparatus. Note=Associated with the minus-end of microtubules and also detected at the centrosomes (PubMed:23169647, PubMed:24486153, PubMed:24908486, PubMed:24706919, PubMed:27666745, PubMed:28814570). Decorates the minus-end of microtubules by decreasing the rate of tubulin incorporation and remaining bound (PubMed:24486153). The length of CAMSAP2-decorated stretches on the minus-end of microtubules is dependent on MAPRE1/EB1 and MAPRE3/EB3, which promote elongation of CAMSAP2-decorated microtubule stretches (PubMed:28814570). Recruited to the Golgi apparatus by AKAP9 and PDE4DIP (PubMed:27666745). In neurons, localizes to the minus-end of microtubules in axon and dendrites (PubMed:24908486). {ECO:0000269 PubMed:23169647, ECO:0000269 PubMed:24486153, ECO:0000269 PubMed:24706919, ECO:0000269 PubMed:27666745, ECO:0000269 PubMed:28814570}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CAMSAP2 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
golgi apparatus 4
nucleus 2
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Microtubule ends (3)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CAMSAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005794 colocalizes_with Golgi apparatus IEA,IDA 27666745
GO:0005813 colocalizes_with centrosome IDA 23169647
GO:0005829 cytosol IDA --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with CAMSAP2: view

Pathways & Interactions for CAMSAP2 Gene

SuperPathways for CAMSAP2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CAMSAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000226 microtubule cytoskeleton organization IMP 23169647
GO:0031113 regulation of microtubule polymerization IDA 24486153
GO:0031175 neuron projection development IEA --
GO:0033043 regulation of organelle organization IMP 23169647
GO:0050773 regulation of dendrite development IDA,IEA 24908486
genes like me logo Genes that share ontologies with CAMSAP2: view

No data available for Pathways by source and SIGNOR curated interactions for CAMSAP2 Gene

Drugs & Compounds for CAMSAP2 Gene

No Compound Related Data Available

Transcripts for CAMSAP2 Gene

Unigene Clusters for CAMSAP2 Gene

Calmodulin regulated spectrin-associated protein family, member 2:
Representative Sequences:

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for CAMSAP2 Gene

No ASD Table

Relevant External Links for CAMSAP2 Gene

GeneLoc Exon Structure for
CAMSAP2
ECgene alternative splicing isoforms for
CAMSAP2

Expression for CAMSAP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CAMSAP2 Gene

Protein differential expression in normal tissues from HIPED for CAMSAP2 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (30.5), Frontal cortex (7.7), Milk (7.5), and Placenta (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CAMSAP2 Gene



NURSA nuclear receptor signaling pathways regulating expression of CAMSAP2 Gene:

CAMSAP2

SOURCE GeneReport for Unigene cluster for CAMSAP2 Gene:

Hs.23585

Evidence on tissue expression from TISSUES for CAMSAP2 Gene

  • Nervous system(4.6)
  • Eye(4.2)
  • Muscle(2)
genes like me logo Genes that share expression patterns with CAMSAP2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CAMSAP2 Gene

Orthologs for CAMSAP2 Gene

This gene was present in the common ancestor of animals.

Orthologs for CAMSAP2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CAMSAP1L1 33 34
  • 99.68 (n)
dog
(Canis familiaris)
Mammalia CAMSAP2 33 34
  • 91.58 (n)
rat
(Rattus norvegicus)
Mammalia Camsap2 33
  • 87.55 (n)
mouse
(Mus musculus)
Mammalia Camsap2 33 16 34
  • 87.11 (n)
oppossum
(Monodelphis domestica)
Mammalia CAMSAP2 34
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CAMSAP2 34
  • 84 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CAMSAP2 34
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves CAMSAP2 33 34
  • 79.67 (n)
lizard
(Anolis carolinensis)
Reptilia CAMSAP2 34
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia camsap2 33
  • 68.28 (n)
zebrafish
(Danio rerio)
Actinopterygii camsap2 33 34
  • 69.6 (n)
CAMSAP2 (1 of 2) 34
  • 55 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Patronin 34
  • 17 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ptrn-1 34
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1969 34
  • 28 (a)
OneToMany
Species where no ortholog for CAMSAP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CAMSAP2 Gene

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

Paralogs for CAMSAP2 Gene

Paralogs for CAMSAP2 Gene

(2) SIMAP similar genes for CAMSAP2 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with CAMSAP2: view

Variants for CAMSAP2 Gene

Sequence variations from dbSNP and Humsavar for CAMSAP2 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
VAR_038399 A colorectal cancer sample p.Ile361Leu
rs1000058825 -- 200,749,157(+) G/C intron_variant
rs1000058907 -- 200,761,925(+) A/G intron_variant
rs1000081365 -- 200,792,848(+) C/T intron_variant
rs1000100203 -- 200,802,992(+) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CAMSAP2 Gene

Variant ID Type Subtype PubMed ID
esv1463839 CNV deletion 17803354
esv2721339 CNV deletion 23290073
esv33174 CNV loss 17666407
esv3545077 CNV deletion 23714750
esv3575438 CNV gain 25503493
esv3588563 CNV gain 21293372
nsv1000619 CNV gain 25217958
nsv1012562 CNV gain 25217958
nsv1127052 CNV deletion 24896259
nsv518356 CNV loss 19592680
nsv528910 CNV loss 19592680
nsv548991 CNV gain 21841781
nsv826176 CNV gain 20364138

Variation tolerance for CAMSAP2 Gene

Residual Variation Intolerance Score: 8.14% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.98; 49.61% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CAMSAP2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CAMSAP2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CAMSAP2 Gene

Disorders for CAMSAP2 Gene

UniProtKB/Swiss-Prot

CAMP2_HUMAN
  • Note=Defects in CAMSAP2 may be a cause of susceptibility to epilepsy in the Chinese population. {ECO:0000305 PubMed:22116939}.

Additional Disease Information for CAMSAP2

No disorders were found for CAMSAP2 Gene.

No data available for MalaCards and Genatlas for CAMSAP2 Gene

Publications for CAMSAP2 Gene

  1. Noncentrosomal microtubules regulate autophagosome transport through CAMSAP2-EB1 cross-talk. (PMID: 28726242) Wei J … Meng W (FEBS letters 2017) 3 4 58
  2. Molecular Pathway of Microtubule Organization at the Golgi Apparatus. (PMID: 27666745) Wu J … Akhmanova A (Developmental cell 2016) 3 4 58
  3. Microtubule minus-end stabilization by polymerization-driven CAMSAP deposition. (PMID: 24486153) Jiang K … Akhmanova A (Developmental cell 2014) 3 4 58
  4. Regulation of microtubule minus-end dynamics by CAMSAPs and Patronin. (PMID: 24706919) Hendershott MC … Vale RD (Proceedings of the National Academy of Sciences of the United States of America 2014) 3 4 58
  5. Microtubule minus-end binding protein CAMSAP2 controls axon specification and dendrite development. (PMID: 24908486) Yau KW … Hoogenraad CC (Neuron 2014) 3 4 58

Products for CAMSAP2 Gene

Sources for CAMSAP2 Gene

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