• Gene id: 23125

Gene Summary

• Gene Symbol: CAMTA2   Gene   UCSC   Ensembl
• Gene name: calmodulin binding transcription activator 2
• Alternate names: calmodulin-binding transcription activator 2,
• Gene location: 17p13.2 (4988280: 4967992)     Exons: 24     NC_000017.11
• Gene summary(Entrez): 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
• OMIM: 193067

Protein Summary

• Protein general information: O94983  
  • Name: Calmodulin binding transcription activator 2
  • Length: 1202  
  • Mass: 131530
  • Tissue specificity: Detected in brain. Expressed at constant levels throughout the cell cycle in neuroblastoma cell lines. {ECO
• Sequence:

  MNTKDTTEVAENSHHLKIFLPKKLLECLPRCPLLPPERLRWNTNEEIASYLITFEKHDEWLSCAPKTRPQNGSII
  LYNRKKVKYRKDGYLWKKRKDGKTTREDHMKLKVQGMECLYGCYVHSSIVPTFHRRCYWLLQNPDIVLVHYLNVP
  ALEDCGKGCSPIFCSISSDRREWLKWSREELLGQLKPMFHGIKWSCGNGTEEFSVEHLVQQILDTHPTKPAPRTH
  ACLCSGGLGSGSLTHKCSSTKHRIISPKVEPRALTLTSIPHAHPPEPPPLIAPLPPELPKAHTSPSSSSSSSSSG
  FAEPLEIRPSPPTSRGGSSRGGTAILLLTGLEQRAGGLTPTRHLAPQADPRPSMSLAVVVGTEPSAPPAPPSPAF
  DPDRFLNSPQRGQTYGGGQGVSPDFPEAEAAHTPCSALEPAAALEPQAAARGPPPQSVAGGRRGNCFFIQDDDSG
  EELKGHGAAPPIPSPPPSPPPSPAPLEPSSRVGRGEALFGGPVGASELEPFSLSSFPDLMGELISDEAPSIPAPT
  PQLSPALSTITDFSPEWSYPEGGVKVLITGPWTEAAEHYSCVFDHIAVPASLVQPGVLRCYCPAHEVGLVSLQVA
  GREGPLSASVLFEYRARRFLSLPSTQLDWLSLDDNQFRMSILERLEQMEKRMAEIAAAGQVPCQGPDAPPVQDEG
  QGPGFEARVVVLVESMIPRSTWKGPERLAHGSPFRGMSLLHLAAAQGYARLIETLSQWRSVETGSLDLEQEVDPL
  NVDHFSCTPLMWACALGHLEAAVLLFRWNRQALSIPDSLGRLPLSVAHSRGHVRLARCLEELQRQEPSVEPPFAL
  SPPSSSPDTGLSSVSSPSELSDGTFSVTSAYSSAPDGSPPPAPLPASEMTMEDMAPGQLSSGVPEAPLLLMDYEA
  TNSKGPLSSLPALPPASDDGAAPEDADSPQAVDVIPVDMISLAKQIIEATPERIKREDFVGLPEAGASMRERTGA
  VGLSETMSWLASYLENVDHFPSSTPPSELPFERGRLAVPSAPSWAEFLSASTSGKMESDFALLTLSDHEQRELYE
  AARVIQTAFRKYKGRRLKEQQEVAAAVIQRCYRKYKQLTWIALKFALYKKMTQAAILIQSKFRSYYEQKRFQQSR
  RAAVLIQQHYRSYRRRPGPPHRTSATLPARNKGSFLTKKQDQAARKIMRFLRRCRHRMRELKQNQELEGLPQPGL
  AT

• Structural information:
  • Protein Domains: (535..61-)
    (/note="IPT/TIG-)
    (1049..107-)
    (/note="IQ-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00116-)
    (1102..113-)
    (/note="IQ-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00116"-)
  • Interpro: IPR020683  IPR036770  IPR005559  IPR013783  IPR014756   IPR002909  IPR000048  
  • Prosite: PS50297 PS51437 PS50096
  • STRING: ENSP00000412886
• Other Databases: GeneCards:  CAMTA2  Malacards:  CAMTA2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0043565	sequence-specific DNA binding	IBA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0014898	cardiac muscle hypertrophy in response to stress	IDA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IDA	biological process
GO:0003682	chromatin binding	IDA	molecular function
GO:0042826	histone deacetylase binding	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IGI	biological process
GO:0008134	transcription factor binding	IGI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq