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

Gene ID: 23271, updated on 9-May-2021

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
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
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

See CAMSAP2 in Genome Data Viewer
Location:
1q32.1
Exon count:
18
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (200738893..200860707)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (200708700..200829832)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene kinesin family member 14 Neighboring gene DEAD-box helicase 59 Neighboring gene DDX59 antisense RNA 1 Neighboring gene ribosomal protein L34 pseudogene 6 Neighboring gene G protein-coupled receptor 25

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Two-stage genome-wide association study identifies variants in CAMSAP1L1 as susceptibility loci for epilepsy in Chinese.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
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
 
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
PubMed 
colocalizes_with microtubule minus-end IDA
Inferred from Direct Assay
more info
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)

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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_001297707.3NP_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
    Q08AD1
    UniProtKB/TrEMBL
    B3KTI4
    Related
    ENSP00000236925.4, ENST00000236925.8
    Conserved Domains (3) summary
    pfam08683
    Location:13501468
    CAMSAP_CKK; Microtubule-binding calmodulin-regulated spectrin-associated
    pfam11971
    Location:237315
    CAMSAP_CH; CAMSAP CH domain
    pfam17095
    Location:754804
    CAMSAP_CC1; Spectrin-binding region of Ca2+-Calmodulin
  2. NM_001297708.3NP_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:13231441
    CAMSAP_CKK; Microtubule-binding calmodulin-regulated spectrin-associated
    pfam11971
    Location:226304
    CAMSAP_CH; CAMSAP CH domain
    pfam17095
    Location:727777
    CAMSAP_CC1; Spectrin-binding region of Ca2+-Calmodulin
  3. NM_001389638.1NP_001376567.1  calmodulin-regulated spectrin-associated protein 2 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AL450104
  4. NM_203459.4NP_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, ENST00000358823.6
    Conserved Domains (3) summary
    pfam08683
    Location:13391457
    CAMSAP_CKK; Microtubule-binding calmodulin-regulated spectrin-associated
    pfam11971
    Location:226304
    CAMSAP_CH; CAMSAP CH domain
    pfam17095
    Location:743793
    CAMSAP_CC1; Spectrin-binding region of Ca2+-Calmodulin

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210226

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    200738893..200860707
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017000799.1XP_016856288.1  calmodulin-regulated spectrin-associated protein 2 isoform X2

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