AutismKB 2.0

Annotation Detail for CCM2


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Basic Information Top
Gene Symbol:CCM2 ( C7orf22,MGC4067,MGC4607,MGC74868,OSM )
Gene Full Name: cerebral cavernous malformation 2
Band: 7p13
Quick LinksEntrez ID:83605; OMIM: 607929; Uniprot ID:CCM2_HUMAN; ENSEMBL ID: ENSG00000136280; HGNC ID: 21708
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
384Phosphoserine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
15Phosphoserine(CDC2)HMM predict
37Phosphothreonine(PKC)HMM predict
79Phosphotyrosine(Jak)HMM predict
79Phosphotyrosine(INSR)HMM predict
81N-linkedHMM predict
164Phosphoserine(CDC2)HMM predict
164O-linkedHMM predict
168Phosphoserine(PKA)HMM predict
181Phosphoserine(CK1)HMM predict
239Phosphothreonine(MAPK)HMM predict
251Phosphoserine(CK1)HMM predict
252Phosphoserine(CK1)HMM predict
261Phosphotyrosine(Jak)HMM predict
283Phosphoserine(IKK)HMM predict
283O-linkedHMM predict
292Phosphoserine(CK1)HMM predict
294Phosphoserine(CK2)HMM predict
393Phosphoserine(PKG)HMM predict
393Phosphoserine(PKC)HMM predict
393Phosphoserine(IKK)HMM predict
394O-linkedHMM predict
395O-linkedHMM predict
396O-linkedHMM predict
396Phosphoserine(CK1)HMM predict
397Phosphoserine(CDC2)HMM predict
399O-linkedHMM predict
406Phosphothreonine(PKA)HMM predict
430Phosphoserine(CK1)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001029835
  • Location:chr7 45033509-45082592
  • strand:+
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 45083861 45085789 1928 2233
CTCF G2GSE9613 45086463 45087948 1485 4613
CTCF G2GSE9613 45091385 45092807 1422 9504
CTCF G2GSE9613 45093320 45093597 277 10866
CTCF G2GSE9613 45093950 45094779 829 11772
TFAP2C MCF7GSE21234 45089163 45089659 496 6819
hScc1 G2GSE9613 45084655 45086140 1485 2805
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 45074489 45075138 649 0
CTCF G2GSE9613 45079266 45079795 529 0
CTCF G2GSE9613 45080806 45081331 525 0
CTCF G2GSE9613 45081757 45082451 694 0
Oct1 HelaGSE14283 45034967 45035042 75 0
TFAP2C MCF7GSE21234 45040066 45040323 257 0
TFAP2C MCF7GSE21234 45042013 45042384 371 0
TFAP2C MCF7GSE21234 45079420 45080733 1313 0
p63 keratinocytesGSE17611 45039198 45040630 1432 0
Validated miRNA targets Top
Cis-Nats regulation Top

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018