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

    Gene ID: 23125, updated on 10-Dec-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
    mouse all
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    Genomic context

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    See CAMTA2 in Genome Data Viewer
    Location:
    17p13.2
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (4967997..4987675, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (4858321..4878006, complement)
    RS_2024_09 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. CAMTA in cardiac hypertrophy. Schwartz RJ, et al. Cell, 2006 May 5. PMID 16678087
    3. Coactivator control of cardiovascular growth and remodeling. Liu N, et al. Curr Opin Cell Biol, 2006 Dec. PMID 17046230
    4. CAMTAs: calmodulin-binding transcription activators from plants to human. Finkler A, et al. FEBS Lett, 2007 Aug 21. PMID 17689537
    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 (23) 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)

    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
    located_in 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_2024_08

    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

      UniProtKB/TrEMBL
      B7ZM30

    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

      UniProtKB/TrEMBL
      B2RZG4

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

      UniProtKB/TrEMBL
      B7ZM30

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

      UniProtKB/TrEMBL
      B2RZG4

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

      UniProtKB/TrEMBL
      B2RZG4

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

      UniProtKB/TrEMBL
      B2RZG4

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

      UniProtKB/TrEMBL
      B2RZG4

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

      UniProtKB/TrEMBL
      B7ZM30
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O94983.3 GenPept UniProtKB/Swiss-Prot:O94983

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