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Aliases for CAMTA2 Gene

Aliases for CAMTA2 Gene

  • Calmodulin Binding Transcription Activator 2 2 3 5
  • KIAA0909 4

External Ids for CAMTA2 Gene

Previous GeneCards Identifiers for CAMTA2 Gene

  • GC17M005290
  • GC17M004816
  • GC17M005071
  • GC17M004812
  • GC17M004871

Summaries for CAMTA2 Gene

Entrez Gene Summary for CAMTA2 Gene

  • 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]

GeneCards Summary for CAMTA2 Gene

CAMTA2 (Calmodulin Binding Transcription Activator 2) is a Protein Coding gene. Diseases associated with CAMTA2 include Miller-Dieker Lissencephaly Syndrome and Neuroblastoma. Gene Ontology (GO) annotations related to this gene include chromatin binding and histone deacetylase binding. An important paralog of this gene is CAMTA1.

UniProtKB/Swiss-Prot for CAMTA2 Gene

  • Transcription activator. May act as tumor suppressor.

Additional gene information for CAMTA2 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CAMTA2 Gene

Genomics for CAMTA2 Gene

GeneHancer (GH) Regulatory Elements for CAMTA2 Gene

Promoters and enhancers for CAMTA2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17I004985 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 575.9 +0.1 84 3.7 HDGF PKNOX1 MLX ARID4B SIN3A DMAP1 ZNF2 ZBTB7B IRF4 YY1 CAMTA2 ENSG00000262678 LOC101927979 ZNF594 LOC100130950 CHRNE ZNF232 DERL2 NUP88 MIS12
GH17I004937 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 25.4 +42.7 42656 14.4 CLOCK MLX FEZF1 DMAP1 IRF4 YY1 E2F8 ZNF143 SP3 NFYC ENO3 RNF167 SLC25A11 PFN1 SPAG7 CHRNE CAMTA2 ZNF594 LOC100130950 ZZEF1
GH17I004996 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 15.1 -11.2 -11174 4.2 HDGF MLX ARID4B SIN3A DMAP1 YBX1 YY1 ZNF766 ZNF207 ZNF143 INCA1 KIF1C CHRNE ZNF232 NUP88 MIS12 ZZEF1 CAMTA2 DERL2 ENSG00000234203
GH17I004965 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 12.9 +19.1 19057 5.4 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ZNF548 SP3 SPAG7 MIR6864 MIR6865 PIR49988 ENSG00000262429 ZNF232 NUP88 MIS12 INCA1 CHRNE
GH17I004832 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.1 +153.1 153057 4.2 HDGF PKNOX1 FOXA2 SIN3A ZNF2 ZNF207 ZNF143 KLF13 SP3 REST MINK1 CHRNE DERL2 ZZEF1 LOC102724009 LOC100130950 ZMYND15 CXCL16 NUP88 CAMTA2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CAMTA2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CAMTA2 gene promoter:

Genomic Locations for CAMTA2 Gene

Genomic Locations for CAMTA2 Gene
chr17:4,967,992-4,987,673
(GRCh38/hg38)
Size:
19,682 bases
Orientation:
Minus strand
chr17:4,871,287-4,890,960
(GRCh37/hg19)

Genomic View for CAMTA2 Gene

Genes around CAMTA2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CAMTA2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CAMTA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CAMTA2 Gene

Proteins for CAMTA2 Gene

  • Protein details for CAMTA2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O94983-CMTA2_HUMAN
    Recommended name:
    Calmodulin-binding transcription activator 2
    Protein Accession:
    O94983
    Secondary Accessions:
    • B9EGL0
    • D3DTL5
    • E7EWU5
    • Q7Z6M8
    • Q8N3V0
    • Q8NDG4
    • Q96G17

    Protein attributes for CAMTA2 Gene

    Size:
    1202 amino acids
    Molecular mass:
    131530 Da
    Quaternary structure:
    • May interact with calmodulin.
    SequenceCaution:
    • Sequence=AAH16163.1; Type=Frameshift; Positions=865; Evidence={ECO:0000305}; Sequence=BAA74932.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for CAMTA2 Gene

neXtProt entry for CAMTA2 Gene

Post-translational modifications for CAMTA2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CAMTA2 Gene

Domains & Families for CAMTA2 Gene

Gene Families for CAMTA2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

O94983

UniProtKB/Swiss-Prot:

CMTA2_HUMAN :
  • Belongs to the CAMTA family.
Family:
  • Belongs to the CAMTA family.
genes like me logo Genes that share domains with CAMTA2: view

Function for CAMTA2 Gene

Molecular function for CAMTA2 Gene

UniProtKB/Swiss-Prot Function:
Transcription activator. May act as tumor suppressor.

Phenotypes From GWAS Catalog for CAMTA2 Gene

Gene Ontology (GO) - Molecular Function for CAMTA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001077 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IBA --
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding IDA 16678093
GO:0005515 protein binding IPI 16678093
GO:0008134 transcription factor binding IGI 16678093
genes like me logo Genes that share ontologies with CAMTA2: view
genes like me logo Genes that share phenotypes with CAMTA2: view

Animal Models for CAMTA2 Gene

MGI Knock Outs for CAMTA2:

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CAMTA2 Gene

Localization for CAMTA2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CAMTA2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CAMTA2 gene
Compartment Confidence
nucleus 5
cytoskeleton 2
mitochondrion 2
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (2)
  • Mitochondria (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CAMTA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 16678093
genes like me logo Genes that share ontologies with CAMTA2: view

Pathways & Interactions for CAMTA2 Gene

SuperPathways for CAMTA2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CAMTA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IDA 16678093
GO:0006366 transcription by RNA polymerase II IEA --
GO:0014898 cardiac muscle hypertrophy in response to stress IDA 16678093
genes like me logo Genes that share ontologies with CAMTA2: view

No data available for Pathways by source and SIGNOR curated interactions for CAMTA2 Gene

Drugs & Compounds for CAMTA2 Gene

No Compound Related Data Available

Transcripts for CAMTA2 Gene

Unigene Clusters for CAMTA2 Gene

Calmodulin binding transcription activator 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CAMTA2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19a · 19b ^ 20a · 20b ^ 21a · 21b ^
SP1: - - -
SP2: -
SP3:
SP4:
SP5: -
SP6:
SP7:

ExUns: 22a · 22b · 22c
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:

Relevant External Links for CAMTA2 Gene

GeneLoc Exon Structure for
CAMTA2
ECgene alternative splicing isoforms for
CAMTA2

Expression for CAMTA2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CAMTA2 Gene

Protein differential expression in normal tissues from HIPED for CAMTA2 Gene

This gene is overexpressed in Plasma (67.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CAMTA2 Gene



Protein tissue co-expression partners for CAMTA2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CAMTA2 Gene:

CAMTA2

SOURCE GeneReport for Unigene cluster for CAMTA2 Gene:

Hs.632242

mRNA Expression by UniProt/SwissProt for CAMTA2 Gene:

O94983-CMTA2_HUMAN
Tissue specificity: Detected in brain. Expressed at constant levels throughout the cell cycle in neuroblastoma cell lines.

Evidence on tissue expression from TISSUES for CAMTA2 Gene

  • Nervous system(4.8)
  • Eye(4.3)
  • Muscle(2)
genes like me logo Genes that share expression patterns with CAMTA2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for CAMTA2 Gene

Orthologs for CAMTA2 Gene

This gene was present in the common ancestor of animals.

Orthologs for CAMTA2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CAMTA2 33 34
  • 99.03 (n)
cow
(Bos Taurus)
Mammalia CAMTA2 33 34
  • 91.77 (n)
dog
(Canis familiaris)
Mammalia CAMTA2 33 34
  • 89.49 (n)
rat
(Rattus norvegicus)
Mammalia Camta2 33
  • 88.87 (n)
mouse
(Mus musculus)
Mammalia Camta2 33 16 34
  • 88.73 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 80 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia CAMTA2 34
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.1392 33
zebrafish
(Danio rerio)
Actinopterygii CAMTA2 34
  • 39 (a)
OneToOne
zgc56118 33
fruit fly
(Drosophila melanogaster)
Insecta Camta 34
  • 14 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea camt-1 34
  • 13 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 30 (a)
OneToMany
Species where no ortholog for CAMTA2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CAMTA2 Gene

ENSEMBL:
Gene Tree for CAMTA2 (if available)
TreeFam:
Gene Tree for CAMTA2 (if available)

Paralogs for CAMTA2 Gene

Paralogs for CAMTA2 Gene

(1) SIMAP similar genes for CAMTA2 Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with CAMTA2: view

Variants for CAMTA2 Gene

Sequence variations from dbSNP and Humsavar for CAMTA2 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1057524315 uncertain-significance, not specified 4,978,503(-) C/T splice_donor_variant
rs1000008477 -- 4,982,968(-) T/G intron_variant
rs1000064517 -- 4,975,692(-) A/T intron_variant
rs1000096604 -- 4,975,935(-) G/A intron_variant
rs1000191463 -- 4,986,832(-) A/C genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for CAMTA2 Gene

Variant ID Type Subtype PubMed ID
dgv5431n54 CNV loss 21841781
nsv574273 CNV gain 21841781
nsv833349 CNV loss 17160897
nsv833350 CNV loss 17160897

Variation tolerance for CAMTA2 Gene

Residual Variation Intolerance Score: 17.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.80; 66.92% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CAMTA2 Gene

Human Gene Mutation Database (HGMD)
CAMTA2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CAMTA2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CAMTA2 Gene

Disorders for CAMTA2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CAMTA2 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
miller-dieker lissencephaly syndrome
  • mdls
neuroblastoma
  • neuroblastoma, susceptibility to
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CAMTA2

genes like me logo Genes that share disorders with CAMTA2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CAMTA2 Gene

Publications for CAMTA2 Gene

  1. A novel family of calmodulin-binding transcription activators in multicellular organisms. (PMID: 11925432) Bouché N … Fromm H (The Journal of biological chemistry 2002) 2 3 4 58
  2. CAMTA in cardiac hypertrophy. (PMID: 16678087) Schwartz RJ … Schneider MD (Cell 2006) 3 22 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  4. Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10048485) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1998) 3 4 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for CAMTA2 Gene

Sources for CAMTA2 Gene

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