U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

    CALM2 calmodulin 2 [ Homo sapiens (human) ]

    Gene ID: 805, updated on 11-Apr-2024

    Summary

    Official Symbol
    CALM2provided by HGNC
    Official Full Name
    calmodulin 2provided by HGNC
    Primary source
    HGNC:HGNC:1445
    See related
    Ensembl:ENSG00000143933 MIM:114182; AllianceGenome:HGNC:1445
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    caM; CALM; CAM1; CAM3; CAMC; PHKD; CAMII; LQT15; PHKD2; CALML2; CAMIII
    Summary
    This gene is a member of the calmodulin gene family. There are three distinct calmodulin genes dispersed throughout the genome that encode the identical protein, but differ at the nucleotide level. Calmodulin is a calcium binding protein that plays a role in signaling pathways, cell cycle progression and proliferation. Several infants with severe forms of long-QT syndrome (LQTS) who displayed life-threatening ventricular arrhythmias together with delayed neurodevelopment and epilepsy were found to have mutations in either this gene or another member of the calmodulin gene family (PMID:23388215). Mutations in this gene have also been identified in patients with less severe forms of LQTS (PMID:24917665), while mutations in another calmodulin gene family member have been associated with catecholaminergic polymorphic ventricular tachycardia (CPVT)(PMID:23040497), a rare disorder thought to be the cause of a significant fraction of sudden cardiac deaths in young individuals. Pseudogenes of this gene are found on chromosomes 10, 13, and 17. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2015]
    Expression
    Ubiquitous expression in brain (RPKM 152.2), testis (RPKM 98.3) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CALM2 in Genome Data Viewer
    Location:
    2p21
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (47160082..47176936, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (47165201..47182048, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (47387221..47404075, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11457 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:47143015-47143989 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11458 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11459 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15716 Neighboring gene multiple coagulation factor deficiency 2, ER cargo receptor complex subunit Neighboring gene Sharpr-MPRA regulatory region 4700 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:47184163-47184662 Neighboring gene tetratricopeptide repeat domain 7A Neighboring gene Sharpr-MPRA regulatory region 1272/3994 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:47201305-47202504 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15717 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15718 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15719 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15720 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:47214570-47215070 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:47215071-47215571 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:47229712-47229877 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:47231529-47232241 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:47233455-47234351 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:47247642-47248142 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:47252405-47252904 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:47260876-47262075 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:47273445-47273945 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:47272944-47273444 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:47276757-47277730 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:47278786-47278992 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:47282739-47283687 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15721 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:47293527-47294085 Neighboring gene VISTA enhancer hs1967 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:47307103-47307880 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:47307881-47308656 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:47316060-47317259 Neighboring gene sperm-tail PG-rich repeat containing 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15722 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:47402112-47402778 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:47402802-47402952 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15724 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15725 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:47420493-47421014 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:47419971-47420492 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:47434831-47435330 Neighboring gene EPCAM divergent transcript Neighboring gene uncharacterized LOC105374588 Neighboring gene uncharacterized LOC124907763 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:47465802-47466556

    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
    Long QT syndrome 15
    MedGen: C4015695 OMIM: 616249 GeneReviews: Long QT Syndrome Overview
    Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp160, precursor env The calmodulin-binding domains in HIV-1 gp160 are involved in Fas-mediated apoptosis PubMed
    env The carboxyl-terminal domains (residues 768-788 and 826-854) of HIV-1 gp160 bind to calmodulin (CaM) PubMed
    Envelope transmembrane glycoprotein gp41 env The carboxyl terminus (amino acid residues 768-788 and 828-855) of HIV-1 gp41 binds efficiently to purified calmodulin (CaM) and inhibits in vitro CaM-mediated stimulation of phosphodiesterase activity PubMed
    env The fusion between CD4+ human cells and cells stably expressing HIV-1 gp41 and gp120 is inhibited by calmodulin PubMed
    Nef nef HIV-1 Nef induces interleukin 10 expression through an interaction with the calcium/calmodulin-dependent phosphodiesterase signal transduction pathway PubMed
    nef HIV-1 Nef-induced CCL-2/MCP-1 upregulation in astrocytes depends on the myristoylation moiety (residues 2-3) of Nef and requires functional calmodulin PubMed
    nef Fluorescence spectroscopy analyses indicate the myristoylated N-terminal eight amino acids of HIV-1 Nef directly interact with calcium bound calmodulin PubMed
    Tat tat Calmodulin and calmodulin-dependent protein kinase-II (CaMK-II)-activated p38 MAPK play a role in extracellular Tat-induced IL-10 expression in primary human monocytes PubMed
    matrix gag An HIV-1 MA peptide (residues 8-43) binds to CaM with a very high affinity with dissociation constant 25 nm PubMed
    gag Calmodulin (CaM) binding to HIV-1 MA induces the extrusion of the myristate group, suggesting that hydrophobic contacts between CaM and MA are critical for binding PubMed
    gag Calmodulin binds to both HIV-1 Gag and Matrix proteins through an extended calmodulin-binding domain in Matrix (amino acids 11-46) PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ99410

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables adenylate cyclase activator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables adenylate cyclase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables calcium channel inhibitor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables calcium ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables calcium ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables calcium-dependent protein binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein phosphatase activator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein serine/threonine kinase activator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein serine/threonine kinase activator activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables titin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transmembrane transporter binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in G protein-coupled receptor signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in G2/M transition of mitotic cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in detection of calcium ion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of calcium ion export across plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of calcium ion transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of peptidyl-threonine phosphorylation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of ryanodine-sensitive calcium-release channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of cyclic-nucleotide phosphodiesterase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of peptidyl-threonine phosphorylation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of phosphoprotein phosphatase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of protein autophosphorylation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of protein dephosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of protein serine/threonine kinase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of ryanodine-sensitive calcium-release channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of ryanodine-sensitive calcium-release channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within regulation of calcium-mediated signaling ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of cardiac muscle contraction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion IC
    Inferred by Curator
    more info
     
    involved_in regulation of cell communication by electrical coupling involved in cardiac conduction IC
    Inferred by Curator
    more info
     
    involved_in regulation of cytokinesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of heart rate IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to calcium ion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in substantia nigra development HEP PubMed 
    Component Evidence Code Pubs
    part_of calcium channel complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of catalytic complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in myelin sheath IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleus HDA PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in sarcomere IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in sperm midpiece IEA
    Inferred from Electronic Annotation
    more info
     
    located_in spindle microtubule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in spindle pole IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in vesicle HDA PubMed 
    located_in vesicle ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    part_of voltage-gated potassium channel complex IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    calmodulin-2
    Names
    Calmodulin-1
    Calmodulin-3
    LP7057 protein
    calmodulin 2 (phosphorylase kinase, delta)
    phosphorylase kinase delta
    phosphorylase kinase subunit delta
    phosphorylase kinase subunit delta 2
    prepro-calmodulin 2
    NP_001292553.1
    NP_001292554.1
    NP_001292555.1
    NP_001734.1

    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.

    Genomic

    1. NG_042065.1 RefSeqGene

      Range
      5426..21853
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001305624.1NP_001292553.1  calmodulin-2 isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AI873701, BC017385, BG563041, HY022313
      UniProtKB/Swiss-Prot
      P0DP24
      Conserved Domains (1) summary
      PTZ00184
      Location:50197
      PTZ00184; calmodulin; Provisional
    2. NM_001305625.2NP_001292554.1  calmodulin-2 isoform 3

      See identical proteins and their annotated locations for NP_001292554.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an alternate exon in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus than isoform 1. Both variants 3 and 4 encode the same protein.
      Source sequence(s)
      AI873701, BC017385, HY108355
      Consensus CDS
      CCDS92749.1
      UniProtKB/TrEMBL
      A0A9K3Y7M0, D6W5B3, E7ETZ0, H0Y7A7, Q96HY3
      Related
      ENSP00000499266.1, ENST00000655450.1
      Conserved Domains (1) summary
      PTZ00184
      Location:1113
      PTZ00184; calmodulin; Provisional
    3. NM_001305626.1NP_001292555.1  calmodulin-2 isoform 3

      See identical proteins and their annotated locations for NP_001292555.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in its 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus than isoform 1. Both variants 3 and 4 encode the same protein.
      Source sequence(s)
      AC073283, AI873701, BC017385, BC047553
      Consensus CDS
      CCDS92749.1
      UniProtKB/TrEMBL
      A0A9K3Y7M0, D6W5B3, E7ETZ0, H0Y7A7, Q96HY3
      Related
      ENST00000460218.5
      Conserved Domains (1) summary
      PTZ00184
      Location:1113
      PTZ00184; calmodulin; Provisional
    4. NM_001743.6NP_001734.1  calmodulin-2 isoform 2

      See identical proteins and their annotated locations for NP_001734.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an exon in the 5' coding region, and uses an alternate start codon compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1, and is the same protein encoded by other calmodulin gene family members.
      Source sequence(s)
      AI873701, BC017385
      Consensus CDS
      CCDS1832.1
      UniProtKB/Swiss-Prot
      P02593, P0DP23, P0DP24, P0DP25, P62158, P70667, P99014, Q13942, Q53S29, Q61379, Q61380, Q96HK3
      UniProtKB/TrEMBL
      B2RDW0, B4DJ51
      Related
      ENSP00000272298.7, ENST00000272298.12
      Conserved Domains (1) summary
      PTZ00184
      Location:1149
      PTZ00184; calmodulin; Provisional

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      47160082..47176936 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      47165201..47182048 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)