Details for: CACNA2D2
Associated with
Other Information
Genular Protein ID: 3315068318
Symbol: CA2D2_HUMAN
Name: Voltage-dependent calcium channel subunit alpha-2/delta-2
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 9880589
Title: Molecular diversity of the calcium channel alpha2delta subunit.
PubMed ID: 9880589
PubMed ID: 10766861
Title: Functional properties of a new voltage-dependent calcium channel alpha(2)delta auxiliary subunit gene (CACNA2D2).
PubMed ID: 10766861
PubMed ID: 10762351
Title: Neuronal distribution and functional characterization of the calcium channel alpha2delta-2 subunit.
PubMed ID: 10762351
PubMed ID: 9628581
Title: Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.
PubMed ID: 9628581
PubMed ID: 16641997
Title: The DNA sequence, annotation and analysis of human chromosome 3.
PubMed ID: 16641997
DOI: 10.1038/nature04728
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 11687876
Title: Tissue-specific expression and gabapentin-binding properties of calcium channel alpha2delta subunit subtypes.
PubMed ID: 11687876
PubMed ID: 15000524
Title: Calcium channel alpha2delta subunits: differential expression, function, and drug binding.
PubMed ID: 15000524
PubMed ID: 12555074
Title: CACNA2D2-mediated apoptosis in NSCLC cells is associated with alterations of the intracellular calcium signaling and disruption of mitochondria membrane integrity.
PubMed ID: 12555074
PubMed ID: 15111129
Title: Modulation of gating currents of the Ca(v)3.1 calcium channel by alpha 2 delta 2 and gamma 5 subunits.
PubMed ID: 15111129
PubMed ID: 19349973
Title: Mass-spectrometric identification and relative quantification of N-linked cell surface glycoproteins.
PubMed ID: 19349973
DOI: 10.1038/nbt.1532
PubMed ID: 23339110
Title: Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy.
PubMed ID: 23339110
PubMed ID: 24358150
Title: A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy.
PubMed ID: 24358150
PubMed ID: 30410802
Title: Epileptic encephalopathy and cerebellar atrophy resulting from compound heterozygous CACNA2D2 variants.
PubMed ID: 30410802
DOI: 10.1155/2018/6308283
PubMed ID: 29997391
Title: Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies.
PubMed ID: 29997391
PubMed ID: 33798445
Title: Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes.
PubMed ID: 33798445
Sequence Information:
- Length: 1150
- Mass: 129817
- Checksum: 502B86A5E6279AA0
- Sequence:
MAVPARTCGA SRPGPARTAR PWPGCGPHPG PGTRRPTSGP PRPLWLLLPL LPLLAAPGAS AYSFPQQHTM QHWARRLEQE VDGVMRIFGG VQQLREIYKD NRNLFEVQEN EPQKLVEKVA GDIESLLDRK VQALKRLADA AENFQKAHRW QDNIKEEDIV YYDAKADAEL DDPESEDVER GSKASTLRLD FIEDPNFKNK VNYSYAAVQI PTDIYKGSTV ILNELNWTEA LENVFMENRR QDPTLLWQVF GSATGVTRYY PATPWRAPKK IDLYDVRRRP WYIQGASSPK DMVIIVDVSG SVSGLTLKLM KTSVCEMLDT LSDDDYVNVA SFNEKAQPVS CFTHLVQANV RNKKVFKEAV QGMVAKGTTG YKAGFEYAFD QLQNSNITRA NCNKMIMMFT DGGEDRVQDV FEKYNWPNRT VRVFTFSVGQ HNYDVTPLQW MACANKGYYF EIPSIGAIRI NTQEYLDVLG RPMVLAGKEA KQVQWTNVYE DALGLGLVVT GTLPVFNLTQ DGPGEKKNQL ILGVMGIDVA LNDIKRLTPN YTLGANGYVF AIDLNGYVLL HPNLKPQTTN FREPVTLDFL DAELEDENKE EIRRSMIDGN KGHKQIRTLV KSLDERYIDE VTRNYTWVPI RSTNYSLGLV LPPYSTFYLQ ANLSDQILQV KLPISKLKDF EFLLPSSFES EGHVFIAPRE YCKDLNASDN NTEFLKNFIE LMEKVTPDSK QCNNFLLHNL ILDTGITQQL VERVWRDQDL NTYSLLAVFA ATDGGITRVF PNKAAEDWTE NPEPFNASFY RRSLDNHGYV FKPPHQDALL RPLELENDTV GILVSTAVEL SLGRRTLRPA VVGVKLDLEA WAEKFKVLAS NRTHQDQPQK CGPNSHCEMD CEVNNEDLLC VLIDDGGFLV LSNQNHQWDQ VGRFFSEVDA NLMLALYNNS FYTRKESYDY QAACAPQPPG NLGAAPRGVF VPTVADFLNL AWWTSAAAWS LFQQLLYGLI YHSWFQADPA EAEGSPETRE SSCVMKQTQY YFGSVNASYN AIIDCGNCSR LFHAQRLTNT NLLFVVAEKP LCSQCEAGRL LQKETHSDGP EQCELVQRPR YRRGPHICFD YNATEDTSDC GRGASFPPSL GVLVSLQLLL LLGLPPRPQP QVLVHASRRL
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.