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Aliases for CAMTA1 Gene

Aliases for CAMTA1 Gene

  • Calmodulin Binding Transcription Activator 1 2 3 5
  • Calmodulin-Binding Transcription Activator 1 3
  • KIAA0833 4
  • CANPMR 3

External Ids for CAMTA1 Gene

Previous GeneCards Identifiers for CAMTA1 Gene

  • GC01P006422
  • GC01P006654
  • GC01P006554
  • GC01P006779
  • GC01P005994

Summaries for CAMTA1 Gene

Entrez Gene Summary for CAMTA1 Gene

  • The protein encoded by this gene contains a CG1 DNA-binding domain, a transcription factor immunoglobulin domain, ankyrin repeats, and calmodulin-binding IQ motifs. The encoded protein is thought to be a transcription factor and may be a tumor suppressor. However, a translocation event is sometimes observed between this gene and the WWTR1 gene, with the resulting WWTR1-CAMTA1 oncoprotein leading to epithelioid hemangioendothelioma, a malignant vascular cancer. [provided by RefSeq, Mar 2017]

GeneCards Summary for CAMTA1 Gene

CAMTA1 (Calmodulin Binding Transcription Activator 1) is a Protein Coding gene. Diseases associated with CAMTA1 include Cerebellar Ataxia, Nonprogressive, With Mental Retardation and Epithelioid Hemangioendothelioma. An important paralog of this gene is CAMTA2.

UniProtKB/Swiss-Prot for CAMTA1 Gene

  • Transcriptional activator. May act as a tumor suppressor.

Gene Wiki entry for CAMTA1 Gene

Additional gene information for CAMTA1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CAMTA1 Gene

Genomics for CAMTA1 Gene

Regulatory Elements for CAMTA1 Gene

Enhancers for CAMTA1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01H006404 1 ENCODE 19.4 -380.5 -380489 0.2 ZNF493 ZFP64 ARID4B FEZF1 ZNF121 GLIS2 ZNF302 ZNF143 KLF7 ZNF548 THAP3 NOL9 RPL22 PHF13 CAMTA1 NPHP4 CAMTA1-DT ZBTB48 LOC102724450 GC01M006398
GH01H006819 1.2 Ensembl ENCODE 13 +37.5 37529 7 HDGF FOXA2 ZSCAN4 FEZF1 BATF RAD21 YY1 ZNF366 ZSCAN5C ATF7 CAMTA1 CAMTA1-DT ENSG00000237365 THAP3 RPL37P9
GH01H006412 1.2 Ensembl ENCODE 10.8 -370.3 -370326 4.3 PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A ZNF121 ZNF143 ATF7 RUNX3 ESPN RNF207 LINC00337 ICMT HES3 PLEKHG5 LOC102724450 RPL22 CAMTA1 CHD5
GH01H006723 1.1 Ensembl ENCODE 11.1 -60.8 -60845 1.9 ELF3 FOXA2 SAP130 JUN DMAP1 ZNF644 TEAD3 CC2D1A LCORL FOXK2 THAP3 DNAJC11 CAMTA1 CAMTA1-DT LINC01672 GC01P006718
GH01H007678 1.2 Ensembl ENCODE 9.4 +894.9 894896 3.3 ELF3 FOXA2 KLF17 RAD21 THRB RARA EGR2 SP3 SP5 ZNF623 ENSG00000270171 VAMP3 PER3 CAMTA1 GC01P007609
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CAMTA1 on UCSC Golden Path with GeneCards custom track

Promoters for CAMTA1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000000733 -324 2801 HDGF PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF766

Genomic Locations for CAMTA1 Gene

Genomic Locations for CAMTA1 Gene
984,383 bases
Plus strand

Genomic View for CAMTA1 Gene

Genes around CAMTA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CAMTA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CAMTA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CAMTA1 Gene

Proteins for CAMTA1 Gene

  • Protein details for CAMTA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Calmodulin-binding transcription activator 1
    Protein Accession:
    Secondary Accessions:
    • A7MBM4
    • G3V3Z7
    • Q5VUE1
    • Q6V701
    • Q8WYI3
    • Q96S92

    Protein attributes for CAMTA1 Gene

    1673 amino acids
    Molecular mass:
    183672 Da
    Quaternary structure:
    • May interact with calmodulin.
    • A very small segment of 1p36 located within CAMTA1 is deleted in all oligodendroglial tumors with 1p LOH. This minimal deleted region (MDR) also overlaps the neuroblastoma 1p36 MDR. CAMTA1 shows no evidence of inactivation by somatic mutations.
    • Sequence=AAL39006.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA74856.3; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=EAW71580.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CAMTA1 Gene

    Alternative splice isoforms for CAMTA1 Gene


neXtProt entry for CAMTA1 Gene

Post-translational modifications for CAMTA1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CAMTA1 Gene

Domains & Families for CAMTA1 Gene

Gene Families for CAMTA1 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for CAMTA1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the CAMTA family.
  • Belongs to the CAMTA family.
genes like me logo Genes that share domains with CAMTA1: view

Function for CAMTA1 Gene

Molecular function for CAMTA1 Gene

UniProtKB/Swiss-Prot Function:
Transcriptional activator. May act as a tumor suppressor.
UniProtKB/Swiss-Prot Induction:
Detected at low levels at interphase and in resting cells. Up-regulated during S phase and mitosis. Levels decrease at the end of mitosis.

Phenotypes From GWAS Catalog for CAMTA1 Gene

Gene Ontology (GO) - Molecular Function for CAMTA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IBA --
GO:0003677 DNA binding IEA --
GO:0043565 sequence-specific DNA binding IBA --
genes like me logo Genes that share ontologies with CAMTA1: view
genes like me logo Genes that share phenotypes with CAMTA1: view

Human Phenotype Ontology for CAMTA1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CAMTA1 Gene

MGI Knock Outs for CAMTA1:

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CAMTA1 Gene

Localization for CAMTA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CAMTA1 Gene

Nucleus. Cytoplasm.

Subcellular locations from

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 CAMTA1 gene
Compartment Confidence
nucleus 5
cytosol 5
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoli (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CAMTA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA --
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with CAMTA1: view

Pathways & Interactions for CAMTA1 Gene

SuperPathways for CAMTA1 Gene

No Data Available

Interacting Proteins for CAMTA1 Gene

Selected Interacting proteins: Q9Y6Y1-CMTA1_HUMAN for CAMTA1 Gene via IID

Gene Ontology (GO) - Biological Process for CAMTA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription from RNA polymerase II promoter IEA --
GO:0045944 positive regulation of transcription from RNA polymerase II promoter IBA --
GO:0050885 neuromuscular process controlling balance IEA --
genes like me logo Genes that share ontologies with CAMTA1: view

No data available for Pathways by source and SIGNOR curated interactions for CAMTA1 Gene

Drugs & Compounds for CAMTA1 Gene

No Compound Related Data Available

Transcripts for CAMTA1 Gene

Unigene Clusters for CAMTA1 Gene

Calmodulin binding transcription activator 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CAMTA1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21a ·
SP1: - - - - - - - - - - - -
SP3: - - - - - -
SP4: - - - - - -
SP5: - - - -
SP6: - - -
SP9: -

ExUns: 21b ^ 22 ^ 23 ^ 24 ^ 25a · 25b ^ 26a · 26b ^ 27 ^ 28 ^ 29 ^ 30
SP2: -

Relevant External Links for CAMTA1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CAMTA1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CAMTA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CAMTA1 Gene

This gene is overexpressed in CD8 Tcells (36.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CAMTA1 Gene

Protein tissue co-expression partners for CAMTA1 Gene

NURSA nuclear receptor signaling pathways regulating expression of CAMTA1 Gene:


SOURCE GeneReport for Unigene cluster for CAMTA1 Gene:


mRNA Expression by UniProt/SwissProt for CAMTA1 Gene:

Tissue specificity: Normally expressed in non-neoplastic adult central nervous system tissues: detected in whole brain, cerebellum, brain cortex, occipital lobe, frontal lobe, temporal lobe, putamen. Expression levels are low in oligodendroglial tumors, and are reduced by half in oligodendroglioma and astrocytoma cases with 1p loss of heterozygosity. Detected in neuroblastic-type cultured neuroblastoma cells. Expressed in heart and kidney.

Evidence on tissue expression from TISSUES for CAMTA1 Gene

  • Nervous system(4.9)
  • Heart(4.4)
  • Skin(4.3)
  • Lung(3)
  • Liver(2.3)
  • Muscle(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CAMTA1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • cheek
  • chin
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • skull
  • lower limb
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with CAMTA1: view

No data available for mRNA differential expression in normal tissues for CAMTA1 Gene

Orthologs for CAMTA1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CAMTA1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia CAMTA1 33 34
  • 94.67 (n)
(Canis familiaris)
Mammalia CAMTA1 33 34
  • 92.75 (n)
(Monodelphis domestica)
Mammalia -- 34
  • 92 (a)
-- 34
  • 79 (a)
(Bos Taurus)
Mammalia CAMTA1 33 34
  • 91.13 (n)
(Mus musculus)
Mammalia Camta1 33 16 34
  • 90.18 (n)
(Rattus norvegicus)
Mammalia Camta1 33
  • 89 (n)
(Ornithorhynchus anatinus)
Mammalia CAMTA1 34
  • 84 (a)
(Gallus gallus)
Aves CAMTA1 33 34
  • 79.64 (n)
(Anolis carolinensis)
Reptilia CAMTA1 34
  • 70 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia camta1 33
  • 74.09 (n)
(Danio rerio)
Actinopterygii camta1a 33 34
  • 68.4 (n)
CR847998.1 34
  • 57 (a)
fruit fly
(Drosophila melanogaster)
Insecta Camta 34
  • 16 (a)
(Caenorhabditis elegans)
Secernentea camt-1 34
  • 13 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 32 (a)
Species where no ortholog for CAMTA1 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)
  • 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)
  • 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 CAMTA1 Gene

Gene Tree for CAMTA1 (if available)
Gene Tree for CAMTA1 (if available)

Paralogs for CAMTA1 Gene

Paralogs for CAMTA1 Gene

(1) SIMAP similar genes for CAMTA1 Gene using alignment to 8 proteins: Pseudogenes for CAMTA1 Gene

genes like me logo Genes that share paralogs with CAMTA1: view

Variants for CAMTA1 Gene

Sequence variations from dbSNP and Humsavar for CAMTA1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs886041635 Pathogenic 7,744,883(+) CTGAC(C/T)GAATC reference, stop-gained
rs886041999 Pathogenic 7,663,429(+) CGGAC(-/A)GGGGG reference, frameshift-variant
rs863224853 Likely pathogenic 7,736,507(+) GGGCT(A/G)TGCCA reference, missense
rs886043243 Likely pathogenic 7,745,021(+) AGATC(C/T)GGTGA reference, stop-gained
rs12128526 Likely benign 7,663,897(+) AGCTC(A/G)GAGAG reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for CAMTA1 Gene

Variant ID Type Subtype PubMed ID
esv2742250 CNV deletion 23290073
esv2742139 CNV deletion 23290073
esv2742028 CNV deletion 23290073
esv2741917 CNV deletion 23290073
esv2741695 CNV deletion 23290073
esv2741472 CNV deletion 23290073
esv2741361 CNV deletion 23290073
esv2741250 CNV deletion 23290073
esv2741139 CNV deletion 23290073
esv2741028 CNV deletion 23290073
esv2740917 CNV deletion 23290073
esv2740806 CNV deletion 23290073
esv2740695 CNV deletion 23290073
esv2740584 CNV deletion 23290073
esv2740472 CNV deletion 23290073
esv2740361 CNV deletion 23290073
esv2740250 CNV deletion 23290073
esv2740139 CNV deletion 23290073
esv2672475 CNV deletion 23128226
esv2671025 CNV deletion 23128226
esv2666029 CNV deletion 23128226
esv2662615 CNV deletion 23128226
esv2661964 CNV deletion 23128226
esv2661908 CNV deletion 23128226
esv2659209 CNV deletion 23128226
esv2657512 CNV deletion 23128226
esv2647714 CNV deletion 19546169
esv2592830 CNV deletion 19546169
esv2556451 CNV insertion 19546169
esv25521 CNV loss 19812545
esv2482000 CNV insertion 19546169
esv2444029 CNV deletion 19546169
esv23816 CNV loss 19812545
esv2190574 CNV deletion 18987734
esv1979443 CNV deletion 18987734
esv1977744 CNV deletion 18987734
esv1935214 CNV deletion 18987734
esv1611358 CNV deletion 17803354
esv1590628 CNV insertion 17803354
esv1124399 CNV deletion 17803354
esv1086035 CNV deletion 17803354
dgv94n54 CNV loss 21841781
dgv93n54 CNV loss 21841781
dgv92n54 CNV loss 21841781
dgv91n54 CNV loss 21841781
dgv90n54 CNV loss 21841781
dgv89n54 CNV loss 21841781
dgv88n54 CNV loss 21841781
dgv87n54 CNV gain 21841781
dgv86n54 CNV loss 21841781
dgv85n54 CNV gain+loss 21841781
dgv84n54 CNV gain 21841781
dgv83n54 CNV loss 21841781
dgv82n54 CNV loss 21841781
dgv81n54 CNV gain 21841781
dgv3e201 CNV deletion 23290073
dgv36e59 CNV duplication 20981092
dgv35e59 CNV duplication 20981092
dgv34e59 CNV duplication 20981092
dgv33e59 CNV duplication 20981092
dgv31n106 CNV deletion 24896259
dgv30n106 CNV deletion 24896259
dgv10n67 CNV gain 20364138
dgv10e212 CNV loss 25503493
nsv958568 CNV deletion 24416366
nsv955443 CNV deletion 24416366
nsv955214 CNV deletion 24416366
nsv955213 CNV deletion 24416366
nsv955212 CNV deletion 24416366
nsv955211 CNV deletion 24416366
nsv953452 CNV deletion 24416366
nsv831758 CNV gain+loss 17160897
nsv826808 CNV gain 20364138
nsv826475 CNV loss 20364138
nsv826364 CNV gain 20364138
nsv820592 CNV deletion 20802225
nsv819302 CNV loss 19587683
nsv7991 CNV gain 18304495
nsv545336 CNV loss 21841781
nsv545335 CNV loss 21841781
nsv545333 CNV loss 21841781
nsv545301 CNV loss 21841781
nsv545300 CNV loss 21841781
nsv545299 CNV loss 21841781
nsv545298 CNV loss 21841781
nsv545297 CNV loss 21841781
nsv545296 CNV loss 21841781
nsv545289 CNV loss 21841781
nsv545283 CNV gain+loss 21841781
nsv545273 CNV loss 21841781
nsv527595 CNV loss 19592680
nsv527338 CNV loss 19592680
nsv526782 CNV loss 19592680
nsv522589 CNV loss 19592680
nsv520077 CNV loss 19592680
nsv519205 CNV loss 19592680
nsv518903 CNV loss 19592680
nsv512715 CNV insertion 21212237
nsv512714 CNV insertion 21212237
nsv476621 CNV novel sequence insertion 20440878
nsv462394 CNV loss 19166990
nsv1410 CNV insertion 18451855
nsv1153960 CNV deletion 26484159
nsv1153206 CNV duplication 26484159
nsv1147277 CNV deletion 26484159
nsv1145316 CNV deletion 24896259
nsv1144347 CNV deletion 24896259
nsv1144346 CNV deletion 24896259
nsv1140405 CNV tandem duplication 24896259
nsv1137723 CNV deletion 24896259
nsv1137208 CNV deletion 24896259
nsv1133804 CNV deletion 24896259
nsv1133802 CNV deletion 24896259
nsv1133126 CNV tandem duplication 24896259
nsv1132279 CNV duplication 24896259
nsv1129456 CNV tandem duplication 24896259
nsv1125168 CNV insertion 24896259
nsv1124559 CNV duplication 24896259
nsv1124184 CNV deletion 24896259
nsv1122289 CNV deletion 24896259
nsv1121746 CNV deletion 24896259
nsv1116587 CNV tandem duplication 24896259
nsv1116586 CNV tandem duplication 24896259
nsv1116585 CNV tandem duplication 24896259
nsv1116484 OTHER inversion 24896259
nsv1115336 CNV duplication 24896259
nsv1115335 CNV duplication 24896259
nsv1113070 CNV deletion 24896259
nsv1076313 CNV duplication 25765185
nsv1076053 CNV deletion 25765185
nsv1076048 CNV deletion 25765185
nsv1076034 CNV deletion 25765185
nsv1075535 CNV deletion 25765185
nsv1075533 CNV deletion 25765185
nsv1075528 CNV deletion 25765185
nsv1075515 CNV deletion 25765185
nsv1075512 CNV deletion 25765185
nsv1075104 CNV deletion 25765185
nsv1075096 CNV deletion 25765185
nsv1075090 CNV deletion 25765185
nsv1074663 CNV deletion 25765185
nsv1011512 CNV loss 25217958
nsv1004598 CNV gain 25217958
nsv1001550 CNV gain 25217958
esv999225 CNV deletion 20482838
esv993163 CNV deletion 20482838
esv990496 CNV deletion 20482838
esv988826 CNV insertion 20482838
esv8105 CNV loss 19470904
esv7233 CNV loss 19470904
esv3915 CNV loss 18987735
esv3585130 CNV loss 21293372
esv3585129 CNV loss 21293372
esv3585127 CNV loss 21293372
esv3585126 CNV loss 21293372
esv3585124 CNV loss 21293372
esv3585123 CNV gain 21293372
esv3585122 CNV loss 21293372
esv3585119 CNV loss 21293372
esv3585118 CNV loss 21293372
esv3585117 CNV loss 21293372
esv3585114 CNV loss 21293372
esv3577713 CNV loss 25503493
esv3541455 CNV deletion 23714750
esv3541344 CNV deletion 23714750
esv3541122 CNV deletion 23714750
esv3540344 CNV deletion 23714750
esv3421992 CNV insertion 20981092
esv3418854 CNV insertion 20981092
esv3410484 CNV duplication 20981092
esv3394495 CNV duplication 20981092
esv3363193 CNV insertion 20981092
esv3351162 CNV duplication 20981092
esv3347816 CNV duplication 20981092
esv3345755 CNV insertion 20981092
esv3310514 CNV novel sequence insertion 20981092
esv3304817 CNV mobile element insertion 20981092
esv28688 CNV loss 19812545
esv28595 CNV gain 19812545
esv28432 CNV gain+loss 19812545
esv2764250 CNV loss 21179565
esv2758918 CNV gain 17122850
esv275496 CNV loss 21479260
esv2742806 CNV deletion 23290073
esv2742694 CNV deletion 23290073
esv2742583 CNV deletion 23290073
esv2742472 CNV deletion 23290073
esv2742361 CNV deletion 23290073

Variation tolerance for CAMTA1 Gene

Residual Variation Intolerance Score: 6.67% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.36; 76.87% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CAMTA1 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CAMTA1 Gene

Disorders for CAMTA1 Gene

MalaCards: The human disease database

(13) MalaCards diseases for CAMTA1 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cerebellar ataxia, nonprogressive, with mental retardation
  • canpmr
epithelioid hemangioendothelioma
  • hemangioendothelioma epithelioid
vascular cancer
  • blood vessel neoplasm
histiocytoid hemangioma
  • angiolymphoid hyperplasia with eosinophilia
- elite association - COSMIC cancer census association via MalaCards


  • Cerebellar ataxia, non-progressive, with mental retardation (CANPMR) [MIM:614756]: A neurodevelopmental disorder characterized by mildly delayed psychomotor development, early onset of cerebellar ataxia, and intellectual disability later in childhood and adult life. Other features may include neonatal hypotonia, dysarthria, and dysmetria. Brain imaging in some patients shows cerebellar atrophy. Dysmorphic facial features are variable. {ECO:0000269 PubMed:22693284}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CAMTA1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with CAMTA1: view

No data available for Genatlas for CAMTA1 Gene

Publications for CAMTA1 Gene

  1. Calmodulin-binding transcription activator 1 (CAMTA1) alleles predispose human episodic memory performance. (PMID: 17470457) Huentelman MJ … Stephan DA (Human molecular genetics 2007) 3 22 45 60
  2. Allelic variants of CAMTA1 and FLJ10737 within a commonly deleted region at 1p36 in neuroblastoma. (PMID: 17222547) Henrich KO … Westermann F (European journal of cancer (Oxford, England : 1990) 2007) 3 4 22 60
  3. Cell cycle-dependent transcriptional regulation of calmodulin-binding transcription activator 1 in neuroblastoma cells. (PMID: 15138581) Nakatani K … Nobori T (International journal of oncology 2004) 3 4 22 60
  4. 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 60
  5. Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability. (PMID: 22693284) Thevenon J … Thauvin-Robinet C (Journal of medical genetics 2012) 3 4 60

Products for CAMTA1 Gene

Sources for CAMTA1 Gene

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