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CAMTA2 calmodulin binding transcription activator 2 [ Homo sapiens (human) ]

Gene ID: 23125, updated on 3-Apr-2024

Summary

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Official Symbol
CAMTA2provided by HGNC
Official Full Name
calmodulin binding transcription activator 2provided by HGNC
Primary source
HGNC:HGNC:18807
See related
Ensembl:ENSG00000108509 MIM:611508; AllianceGenome:HGNC:18807
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
Summary
The protein encoded by this gene is a member of the calmodulin-binding transcription activator protein family. Members of this family share a common domain structure that consists of a transcription activation domain, a DNA-binding domain, and a calmodulin-binding domain. The encoded protein may be a transcriptional coactivator of genes involved in cardiac growth. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jan 2010]
Expression
Ubiquitous expression in brain (RPKM 16.2), testis (RPKM 10.6) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
17p13.2
Exon count:
24
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (4967997..4987675, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (4858321..4878006, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (4871292..4890970, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8054 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8055 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11562 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8056 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8057 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:4854946-4855680 Neighboring gene enolase 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:4868801-4869478 Neighboring gene uncharacterized LOC124900387 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:4870157-4870834 Neighboring gene sperm associated antigen 7 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:4870835-4871511 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:4872157-4873356 Neighboring gene uncharacterized LOC124903901 Neighboring gene microRNA 6864 Neighboring gene microRNA 6865 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8059 Neighboring gene CAMTA2 antisense RNA 1 Neighboring gene inhibitor of CDK, cyclin A1 interacting protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8060 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8061 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8062 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:4902950-4903561 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:4903562-4904172 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:4906716-4907915 Neighboring gene kinesin family member 1C Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8063 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:4923264-4924463 Neighboring gene KIF1C antisense RNA 1

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
  • 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. Identification of a novel genetic locus underlying tremor and dystonia. Monies D, et al. Hum Genomics, 2017 Nov 6. PMID 29110692, Free PMC Article
  2. CAMTAs: calmodulin-binding transcription activators from plants to human. Finkler A, et al. FEBS Lett, 2007 Aug 21. PMID 17689537
  3. Coactivator control of cardiovascular growth and remodeling. Liu N, et al. Curr Opin Cell Biol, 2006 Dec. PMID 17046230
  4. CAMTA in cardiac hypertrophy. Schwartz RJ, et al. Cell, 2006 May 5. PMID 16678087
  5. A novel family of calmodulin-binding transcription activators in multicellular organisms. Bouché N, et al. J Biol Chem, 2002 Jun 14. PMID 11925432

See all (22) citations in PubMed

GeneRIFs: Gene References Into Functions

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

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

  • KIAA0909

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables chromatin binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables double-stranded DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables histone deacetylase binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
  
enables transcription coactivator activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables transcription coregulator activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within cardiac muscle hypertrophy in response to stress IDA
Inferred from Direct Assay
more info
 PubMed 
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II IGI
Inferred from Genetic Interaction
more info
 PubMed 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
part_of chromatin IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
calmodulin-binding transcription activator 2

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_001171166.2 → NP_001164637.1  calmodulin-binding transcription activator 2 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, has multiple differences in the coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AC004771, AL833974, BC010050, DB275145
    Consensus CDS
    CCDS54073.1
    UniProtKB/TrEMBL
    B2RZG4
    Related
    ENSP00000370712.5, ENST00000381311.9
    Conserved Domains (5) summary
    smart01076
    Location:36 → 152
    CG-1; CG-1 domains are highly conserved domains of about 130 amino-acid residues
    cd00204
    Location:713 → 811
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam01833
    Location:536 → 616
    TIG; IPT/TIG domain
    pfam13637
    Location:713 → 777
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:712 → 755
    ANK; ANK repeat [structural motif]

  2. NM_001171167.2 → NP_001164638.1  calmodulin-binding transcription activator 2 isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' and 3' UTRs and has multiple coding region differences, compared to variant 1, one of which results in a frameshift. The resulting protein (isoform 4) has distinct N- and C-termini compared to isoform 1.
    Source sequence(s)
    AC004771, AL831849, BC142606
    Consensus CDS
    CCDS54072.1
    UniProtKB/TrEMBL
    B2RZG4
    Related
    ENSP00000412886.3, ENST00000414043.7
    Conserved Domains (5) summary
    smart01076
    Location:57 → 173
    CG-1; CG-1 domains are highly conserved domains of about 130 amino-acid residues
    cd00204
    Location:734 → 832
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam01833
    Location:557 → 637
    TIG; IPT/TIG domain
    pfam13637
    Location:734 → 798
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:733 → 776
    ANK; ANK repeat [structural motif]

  3. NM_001171168.2 → NP_001164639.1  calmodulin-binding transcription activator 2 isoform 3

    See identical proteins and their annotated locations for NP_001164639.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, has multiple differences in the coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (3) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AC004771, AL831849
    Consensus CDS
    CCDS54071.1
    UniProtKB/TrEMBL
    B7ZM30
    Related
    ENSP00000354828.5, ENST00000361571.9
    Conserved Domains (5) summary
    cd00204
    Location:710 → 808
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam01833
    Location:533 → 613
    TIG; IPT/TIG domain
    pfam13637
    Location:710 → 774
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:709 → 752
    ANK; ANK repeat [structural motif]
    cl04295
    Location:57 → 149
    CG-1; CG-1 domain

  4. NM_015099.4 → NP_055914.2  calmodulin-binding transcription activator 2 isoform 1

    See identical proteins and their annotated locations for NP_055914.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes isoform 1.
    Source sequence(s)
    AB020716, AC004771, DB275145
    Consensus CDS
    CCDS11063.1
    UniProtKB/Swiss-Prot
    B9EGL0, D3DTL5, E7EWU5, O94983, Q7Z6M8, Q8N3V0, Q8NDG4, Q96G17
    UniProtKB/TrEMBL
    B2RZG4
    Related
    ENSP00000321813.7, ENST00000348066.8
    Conserved Domains (5) summary
    smart01076
    Location:34 → 150
    CG-1; CG-1 domains are highly conserved domains of about 130 amino-acid residues
    cd00204
    Location:711 → 809
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam01833
    Location:534 → 614
    TIG; IPT/TIG domain
    pfam13637
    Location:711 → 775
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:710 → 753
    ANK; ANK repeat [structural motif]

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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    4967997..4987675 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006721478.5 → XP_006721541.1  calmodulin-binding transcription activator 2 isoform X5

    UniProtKB/TrEMBL
    B2RZG4, I3L3W6
    Related
    ENSP00000460779.1, ENST00000572543.5
    Conserved Domains (5) summary
    smart01076
    Location:34 → 155
    CG-1; CG-1 domains are highly conserved domains of about 130 amino-acid residues
    cd00204
    Location:716 → 814
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam01833
    Location:539 → 619
    TIG; IPT/TIG domain
    pfam13637
    Location:716 → 780
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:715 → 758
    ANK; ANK repeat [structural motif]

  2. XM_047435670.1 → XP_047291626.1  calmodulin-binding transcription activator 2 isoform X6

  3. XM_011523749.4 → XP_011522051.1  calmodulin-binding transcription activator 2 isoform X4

    UniProtKB/TrEMBL
    B2RZG4
    Conserved Domains (5) summary
    smart01076
    Location:57 → 173
    CG-1; CG-1 domains are highly conserved domains of about 130 amino-acid residues
    cd00204
    Location:734 → 832
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam01833
    Location:557 → 637
    TIG; IPT/TIG domain
    pfam13637
    Location:734 → 798
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:733 → 776
    ANK; ANK repeat [structural motif]

  4. XM_011523747.4 → XP_011522049.1  calmodulin-binding transcription activator 2 isoform X2

    UniProtKB/TrEMBL
    B2RZG4
    Conserved Domains (5) summary
    smart01076
    Location:57 → 173
    CG-1; CG-1 domains are highly conserved domains of about 130 amino-acid residues
    cd00204
    Location:734 → 832
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam01833
    Location:557 → 637
    TIG; IPT/TIG domain
    pfam13637
    Location:734 → 798
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:733 → 776
    ANK; ANK repeat [structural motif]

  5. XM_011523748.4 → XP_011522050.1  calmodulin-binding transcription activator 2 isoform X3

    UniProtKB/TrEMBL
    B2RZG4
    Conserved Domains (5) summary
    smart01076
    Location:57 → 178
    CG-1; CG-1 domains are highly conserved domains of about 130 amino-acid residues
    cd00204
    Location:739 → 837
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam01833
    Location:562 → 642
    TIG; IPT/TIG domain
    pfam13637
    Location:739 → 803
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:738 → 781
    ANK; ANK repeat [structural motif]

  6. XM_011523746.4 → XP_011522048.1  calmodulin-binding transcription activator 2 isoform X1

    UniProtKB/TrEMBL
    B2RZG4
    Conserved Domains (5) summary
    smart01076
    Location:57 → 178
    CG-1; CG-1 domains are highly conserved domains of about 130 amino-acid residues
    cd00204
    Location:739 → 837
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam01833
    Location:562 → 642
    TIG; IPT/TIG domain
    pfam13637
    Location:739 → 803
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:738 → 781
    ANK; ANK repeat [structural motif]

  7. XM_006721482.4 → XP_006721545.1  calmodulin-binding transcription activator 2 isoform X7

    UniProtKB/TrEMBL
    B7ZM30
    Conserved Domains (4) summary
    cd00204
    Location:524 → 622
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam01833
    Location:347 → 427
    TIG; IPT/TIG domain
    pfam13637
    Location:524 → 588
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:523 → 566
    ANK; ANK repeat [structural motif]

  8. XM_047435671.1 → XP_047291627.1  calmodulin-binding transcription activator 2 isoform X8

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    4858321..4878006 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054315560.1 → XP_054171535.1  calmodulin-binding transcription activator 2 isoform X5

  2. XM_054315561.1 → XP_054171536.1  calmodulin-binding transcription activator 2 isoform X6

  3. XM_054315559.1 → XP_054171534.1  calmodulin-binding transcription activator 2 isoform X4

  4. XM_054315557.1 → XP_054171532.1  calmodulin-binding transcription activator 2 isoform X2

  5. XM_054315558.1 → XP_054171533.1  calmodulin-binding transcription activator 2 isoform X3

  6. XM_054315556.1 → XP_054171531.1  calmodulin-binding transcription activator 2 isoform X1

  7. XM_054315562.1 → XP_054171537.1  calmodulin-binding transcription activator 2 isoform X7

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O94983.3 GenPept UniProtKB/Swiss-Prot:O94983

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