Description
cerebral cavernous malformation 2 [Source:HGNC Symbol;Acc:21708]
Gene Synonyms
C7orf22, MGC4607, OSM
Location
Chromosome 7: 45,039,074-45,116,068 forward strand.
GRCh37:CM000669.1
About this gene
This gene has 19 transcripts (splice variants), 1 paralogue and is associated with 3 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000475551.1 | CCM2-002 | 2471 | 438aa | ENSP00000417180.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000381112.3 | CCM2-201 | 2471 | 465aa | ENSP00000370503.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS34630 | Q9BSQ5 | NM_001029835.2 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000258781.6 | CCM2-001 | 1894 | 444aa | ENSP00000258781.6 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS5500 | Q9BSQ5 | NM_031443.3 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000541586.1 | CCM2-202 | 1719 | 386aa | ENSP00000444725.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS55109 | Q9BSQ5 | NM_001167934.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000544363.1 | CCM2-203 | 1620 | 353aa | ENSP00000438035.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS55108 | Q9BSQ5 | NM_001167935.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000474617.1 | CCM2-016 | 1532 | 347aa | ENSP00000419474.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C9JUH3 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000480382.1 | CCM2-014 | 406 | 135aa | ENSP00000418763.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | - | 5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete, | |
| ENST00000488727.1 | CCM2-010 | 1719 | 271aa | ENSP00000417251.1 | Nonsense mediated decay | E9PEC4 | - | - | |
| ENST00000461377.1 | CCM2-003 | 1983 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000482714.1 | CCM2-006 | 1459 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000472223.1 | CCM2-007 | 981 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000478582.1 | CCM2-012 | 937 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000478169.1 | CCM2-011 | 542 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000476594.1 | CCM2-013 | 533 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000481194.1 | CCM2-004 | 5304 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000477605.1 | CCM2-005 | 2050 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000480658.1 | CCM2-008 | 1136 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000492883.1 | CCM2-009 | 1061 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000470837.1 | CCM2-015 | 549 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
