CAMSAP2 (calmodulin regulated spectrin associated protein family member 2)

2014-11-01  

Identity

HGNC
LOCATION
1q32.1
LOCUSID
ALIAS
CAMSAP1L1
FUSION GENES

Other Information

Locus ID:

NCBI: 23271
MIM: 613775
HGNC: 29188
Ensembl: ENSG00000118200

Variants:

dbSNP: 23271
ClinVar: 23271
TCGA: ENSG00000118200
COSMIC: CAMSAP2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000118200ENST00000236925Q08AD1
ENSG00000118200ENST00000358823Q08AD1
ENSG00000118200ENST00000413307Q08AD1
ENSG00000118200ENST00000447701H0Y4Z1
ENSG00000118200ENST00000475326H0YE13

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
249084862014Microtubule minus-end binding protein CAMSAP2 controls axon specification and dendrite development.63
247069192014Regulation of microtubule minus-end dynamics by CAMSAPs and Patronin.44
195089792009The CKK domain (DUF1781) binds microtubules and defines the CAMSAP/ssp4 family of animal proteins.35
221169392012Two-stage genome-wide association study identifies variants in CAMSAP1L1 as susceptibility loci for epilepsy in Chinese.23
287262422017Noncentrosomal microtubules regulate autophagosome transport through CAMSAP2-EB1 cross-talk.2
241483052013The potential role of CAMSAP1L1 in symptomatic epilepsy.1

Citation

Dessen P

CAMSAP2 (calmodulin regulated spectrin associated protein family member 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61399/camsap2