Description

cerebral cavernous malformation 2 [Source:HGNC Symbol;Acc:HGNC:21708]

Synonyms

C7orf22, MGC4607, OSM

Location

Chromosome 7: 44,999,475-45,076,469 forward strand.

GRCh38:CM000669.2

About this gene

This gene has 19 transcripts (splice variants), 63 orthologues, 1 paralogue, is a member of 2 Ensembl protein families and is associated with 2 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
CCM2-001ENST000002587811894444aaENSP00000258781
 
Protein coding
CCDS5500Q9BSQ5 NM_031443
NP_113631
TSL:1GENCODE basicAPPRIS P3
CCM2-201ENST000003811121881465aaENSP00000370503
 
Protein coding
CCDS34630Q9BSQ5 NM_001029835
NP_001025006
TSL:2GENCODE basicAPPRIS ALT2
CCM2-202ENST000005415861719386aaENSP00000444725
 
Protein coding
CCDS55109Q9BSQ5 NM_001167934
NP_001161406
TSL:3GENCODE basic
CCM2-203ENST000005443631620353aaENSP00000438035
 
Protein coding
CCDS55108Q9BSQ5 NM_001167935
NP_001161407
TSL:3GENCODE basic
CCM2-002ENST000004755512471438aaENSP00000417180
 
Protein coding
-A0A0A0MT72 -TSL:2GENCODE basicAPPRIS ALT2
CCM2-016ENST000004746171532347aaENSP00000419474
 
Protein coding
-C9JUH3 -TSL:5GENCODE basic
CCM2-014ENST00000480382406135aaENSP00000418763
 
Protein coding
-H7C516 -CDS 5' and 3' incompleteTSL:3
CCM2-010ENST000004887271719271aaENSP00000417251
 
Nonsense mediated decay
-E9PEC4 -TSL:5
CCM2-003ENST000004613771983No protein-
 
Processed transcript
---TSL:5
CCM2-006ENST000004827141459No protein-
 
Processed transcript
---TSL:2
CCM2-007ENST00000472223981No protein-
 
Processed transcript
---TSL:3
CCM2-012ENST00000478582937No protein-
 
Processed transcript
---TSL:3
CCM2-011ENST00000478169542No protein-
 
Processed transcript
---TSL:4
CCM2-013ENST00000476594533No protein-
 
Processed transcript
---TSL:3
CCM2-004ENST000004811945304No protein-
 
Retained intron
---TSL:1
CCM2-005ENST000004776052050No protein-
 
Retained intron
---TSL:1
CCM2-008ENST000004806581136No protein-
 
Retained intron
---TSL:2
CCM2-009ENST000004928831061No protein-
 
Retained intron
---TSL:2
CCM2-015ENST00000470837549No protein-
 
Retained intron
---TSL:5

Gene-based displays