Description
coiled-coil and C2 domain containing 2A [Source:HGNC Symbol;Acc:29253]
Gene Synonyms
JBTS9, KIAA1345, MKS6
Location
Chromosome 4: 15,471,489-15,603,180 forward strand.
GRCh37:CM000666.1
About this gene
This gene has 17 transcripts (splice variants), 4 paralogues and is associated with 8 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000424120.1 | CC2D2A-202 | 5249 | 1620aa | ENSP00000403465.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS47026 | D6R9V3 Q9P2K1 | - | A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000413206.1 | CC2D2A-201 | 5234 | 1620aa | ENSP00000398391.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS47026 | D6R9V3 Q9P2K1 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000503292.1 | CC2D2A-002 | 5175 | 1620aa | ENSP00000421809.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS47026 | D6R9V3 Q9P2K1 | NM_001080522.2 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000389652.5 | CC2D2A-010 | 4790 | 1512aa | ENSP00000374303.5 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | Q9P2K1 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000512702.1 | CC2D2A-003 | 1949 | 588aa | ENSP00000422875.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | D6R9V3 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000438599.2 | CC2D2A-203 | 1673 | 122aa | ENSP00000401154.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS47027 | Q9P2K1 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000511544.1 | CC2D2A-004 | 1659 | 122aa | ENSP00000426109.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS47027 | Q9P2K1 | NM_020785.2 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000515124.1 | CC2D2A-005 | 1474 | 111aa | ENSP00000424368.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS54744 | Q9P2K1 | NM_001164720.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000503658.1 | CC2D2A-006 | 630 | 122aa | ENSP00000426846.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS47027 | Q9P2K1 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000507954.1 | CC2D2A-013 | 548 | 111aa | ENSP00000427221.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS54744 | Q9P2K1 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000506643.1 | CC2D2A-012 | 3259 | 903aa | ENSP00000422931.1 | Nonsense mediated decay | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000513811.1 | CC2D2A-008 | 2744 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000514039.1 | CC2D2A-016 | 425 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000514450.1 | CC2D2A-009 | 1124 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000512202.1 | CC2D2A-014 | 600 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000510220.1 | CC2D2A-017 | 406 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000513035.1 | CC2D2A-015 | 395 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
