Gene Gene information from NCBI Gene database.
Entrez ID 23125
Gene name Calmodulin binding transcription activator 2
Gene symbol CAMTA2
Synonyms (NCBI Gene)
-
Chromosome 17
Chromosome location 17p13.2
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 calmoduli
miRNA miRNA information provided by mirtarbase database.
238
miRTarBase ID miRNA Experiments Reference
MIRT049340 hsa-miR-92a-3p CLASH 23622248
MIRT861046 hsa-miR-106a CLIP-seq
MIRT861047 hsa-miR-106b CLIP-seq
MIRT861048 hsa-miR-124 CLIP-seq
MIRT861049 hsa-miR-1268 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
17
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin IDA 16678093
GO:0003677 Function DNA binding IEA
GO:0003682 Function Chromatin binding IDA 16678093
GO:0003690 Function Double-stranded DNA binding IBA
GO:0003712 Function Transcription coregulator activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611508 18807 ENSG00000108509
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O94983
Protein name Calmodulin-binding transcription activator 2
Protein function Transcription activator. May act as tumor suppressor.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03859 CG-1 37 149 CG-1 domain Domain
PF01833 TIG 533 614 IPT/TIG domain Domain
Tissue specificity TISSUE SPECIFICITY: Detected in brain. Expressed at constant levels throughout the cell cycle in neuroblastoma cell lines. {ECO:0000269|PubMed:11925432, ECO:0000269|PubMed:15138581}.
Sequence
MNTKDTTEVAENSHHLKIFLPKKLLECLPRCPLLPPERLRWNTNEEIASYLITFEKHDEW
LSCAPKTRPQNGSIILYNRKKVKYRKDGYLWKKRKDGKTTREDHMKLKVQGMECLYGCYV
HSSIVPTFHRRCYWLLQNPDIVLVHYLNV
PALEDCGKGCSPIFCSISSDRREWLKWSREE
LLGQLKPMFHGIKWSCGNGTEEFSVEHLVQQILDTHPTKPAPRTHACLCSGGLGSGSLTH
KCSSTKHRIISPKVEPRALTLTSIPHAHPPEPPPLIAPLPPELPKAHTSPSSSSSSSSSG
FAEPLEIRPSPPTSRGGSSRGGTAILLLTGLEQRAGGLTPTRHLAPQADPRPSMSLAVVV
GTEPSAPPAPPSPAFDPDRFLNSPQRGQTYGGGQGVSPDFPEAEAAHTPCSALEPAAALE
PQAAARGPPPQSVAGGRRGNCFFIQDDDSGEELKGHGAAPPIPSPPPSPPPSPAPLEPSS
RVGRGEALFGGPVGASELEPFSLSSFPDLMGELISDEAPSIPAPTPQLSPALSTITDFSP
EWSYPEGGVKVLITGPWTEAAEHYSCVFDHIAVPASLVQPGVLRCYCPAHEVGLVSLQVA
GREGPLSASVLFEY
RARRFLSLPSTQLDWLSLDDNQFRMSILERLEQMEKRMAEIAAAGQ
VPCQGPDAPPVQDEGQGPGFEARVVVLVESMIPRSTWKGPERLAHGSPFRGMSLLHLAAA
QGYARLIETLSQWRSVETGSLDLEQEVDPLNVDHFSCTPLMWACALGHLEAAVLLFRWNR
QALSIPDSLGRLPLSVAHSRGHVRLARCLEELQRQEPSVEPPFALSPPSSSPDTGLSSVS
SPSELSDGTFSVTSAYSSAPDGSPPPAPLPASEMTMEDMAPGQLSSGVPEAPLLLMDYEA
TNSKGPLSSLPALPPASDDGAAPEDADSPQAVDVIPVDMISLAKQIIEATPERIKREDFV
GLPEAGASMRERTGAVGLSETMSWLASYLENVDHFPSSTPPSELPFERGRLAVPSAPSWA
EFLSASTSGKMESDFALLTLSDHEQRELYEAARVIQTAFRKYKGRRLKEQQEVAAAVIQR
CYRKYKQLTWIALKFALYKKMTQAAILIQSKFRSYYEQKRFQQSRRAAVLIQQHYRSYRR
RPGPPHRTSATLPARNKGSFLTKKQDQAARKIMRFLRRCRHRMRELKQNQELEGLPQPGL
AT
Sequence length 1202
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CEREBELLAR DYSFUNCTION WITH VARIABLE COGNITIVE AND BEHAVIORAL ABNORMALITIES Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Dystonia Associate 29110692
★☆☆☆☆
Found in Text Mining only
Fetal Diseases Associate 36585686
★☆☆☆☆
Found in Text Mining only
Pancreatic Neoplasms Associate 25502777
★☆☆☆☆
Found in Text Mining only
Tetralogy of Fallot Associate 30582441
★☆☆☆☆
Found in Text Mining only