Description
coiled-coil and C2 domain containing 2A [Source:HGNC Symbol;Acc:HGNC:29253]
Gene Synonyms
JBTS9, KIAA1345, MKS6
Location
Chromosome 4: 15,469,865-15,601,552 forward strand.
GRCh38:CM000666.2
About this gene
This gene has 23 transcripts (splice variants), 282 orthologues, 2 paralogues and is associated with 9 phenotypes.
Transcripts
| Name | Transcript ID | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq Match | Flags |
|---|---|---|---|---|---|---|---|---|---|
| CC2D2A-203 | ENST00000503292.6 | 5226 | 1620aa | ENSP00000421809.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS47026 | Q9P2K1-4 | - | <p>TSL 1: A transcript where all splice junctions are supported by at least one non-suspect mRNA.</p><p>The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users, based on the type and quality of the alignments used to annotate the transcript.</p>TSL:1, The GENCODE set is the gene set for human and mouse. <a href="/Help/Glossary?id=500" class="popup">GENCODE Basic</a> is a subset of representative transcripts (splice variants).GENCODE basic, <p>APPRIS P2: Where the APPRIS core modules are unable to choose a clear principal variant (approximately 25% of human protein coding genes), the database chooses two or more of the CDS variants as "candidates" to be the principal variant.</p><p>APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods to identify the most functionally important transcript(s) of a gene.</p>APPRIS P2, |
| CC2D2A-202 | ENST00000424120.6 | 5184 | 1620aa | ENSP00000403465.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS47026 | Q9P2K1-4 | NM_001378615.1 | <p>TSL 5: A transcript where no single transcript supports the model structure.</p><p>The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users, based on the type and quality of the alignments used to annotate the transcript.</p>TSL:5, The GENCODE set is the gene set for human and mouse. <a href="/Help/Glossary?id=500" class="popup">GENCODE Basic</a> is a subset of representative transcripts (splice variants).GENCODE basic, <p>APPRIS P2: Where the APPRIS core modules are unable to choose a clear principal variant (approximately 25% of human protein coding genes), the database chooses two or more of the CDS variants as "candidates" to be the principal variant.</p><p>APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods to identify the most functionally important transcript(s) of a gene.</p>APPRIS P2, The Matched Annotation from NCBI and EMBL-EBI is a collaboration between Ensembl/GENCODE and RefSeq. The MANE Select is a default transcript per human gene that is representative of biology, well-supported, expressed and highly-conserved. This transcript set matches GRCh38 and is 100% identical between RefSeq and Ensembl/GENCODE for 5' UTR, CDS, splicing and 3'UTR.MANE Select v0.91, |
| CC2D2A-215 | ENST00000515124.6 | 1521 | 111aa | ENSP00000424368.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS54744 | Q9P2K1-6 | - | <p>TSL 1: A transcript where all splice junctions are supported by at least one non-suspect mRNA.</p><p>The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users, based on the type and quality of the alignments used to annotate the transcript.</p>TSL:1, The GENCODE set is the gene set for human and mouse. <a href="/Help/Glossary?id=500" class="popup">GENCODE Basic</a> is a subset of representative transcripts (splice variants).GENCODE basic, |
| CC2D2A-204 | ENST00000503658.2 | 605 | 122aa | ENSP00000426846.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS47027 | Q9P2K1-5 | - | <p>TSL 1: A transcript where all splice junctions are supported by at least one non-suspect mRNA.</p><p>The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users, based on the type and quality of the alignments used to annotate the transcript.</p>TSL:1, The GENCODE set is the gene set for human and mouse. <a href="/Help/Glossary?id=500" class="popup">GENCODE Basic</a> is a subset of representative transcripts (splice variants).GENCODE basic, |
| CC2D2A-206 | ENST00000507954.5 | 548 | 111aa | ENSP00000427221.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS54744 | Q9P2K1-6 | - | <p>TSL 2: A transcript where the best supporting mRNA is flagged as suspect or the support is from multiple ESTs</p><p>The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users, based on the type and quality of the alignments used to annotate the transcript.</p>TSL:2, The GENCODE set is the gene set for human and mouse. <a href="/Help/Glossary?id=500" class="popup">GENCODE Basic</a> is a subset of representative transcripts (splice variants).GENCODE basic, |
| CC2D2A-201 | ENST00000389652.11 | 5044 | 1632aa | ENSP00000374303.8 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | A0A140T8Y7 | - | <p>TSL 5: A transcript where no single transcript supports the model structure.</p><p>The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users, based on the type and quality of the alignments used to annotate the transcript.</p>TSL:5, The GENCODE set is the gene set for human and mouse. <a href="/Help/Glossary?id=500" class="popup">GENCODE Basic</a> is a subset of representative transcripts (splice variants).GENCODE basic, <p>APPRIS ALT2: For genes in which the APPRIS core modules are unable to choose a clear principal isoform, the ALT1 is the candidate transcript(s) models that appear to be conserved in fewer than three tested species.</p><p>APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods to identify the most functionally important transcript(s) of a gene.</p>APPRIS ALT2, |
| CC2D2A-205 | ENST00000506643.5 | 4989 | 1571aa | ENSP00000422931.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | H0Y941 | - | <p>TSL 2: A transcript where the best supporting mRNA is flagged as suspect or the support is from multiple ESTs</p><p>The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users, based on the type and quality of the alignments used to annotate the transcript.</p>TSL:2, The GENCODE set is the gene set for human and mouse. <a href="/Help/Glossary?id=500" class="popup">GENCODE Basic</a> is a subset of representative transcripts (splice variants).GENCODE basic, <p>APPRIS ALT2: For genes in which the APPRIS core modules are unable to choose a clear principal isoform, the ALT1 is the candidate transcript(s) models that appear to be conserved in fewer than three tested species.</p><p>APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods to identify the most functionally important transcript(s) of a gene.</p>APPRIS ALT2, |
| CC2D2A-220 | ENST00000674945.1 | 4809 | 1512aa | ENSP00000502333.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | - | - | The GENCODE set is the gene set for human and mouse. <a href="/Help/Glossary?id=500" class="popup">GENCODE Basic</a> is a subset of representative transcripts (splice variants).GENCODE basic, <p>APPRIS ALT2: For genes in which the APPRIS core modules are unable to choose a clear principal isoform, the ALT1 is the candidate transcript(s) models that appear to be conserved in fewer than three tested species.</p><p>APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods to identify the most functionally important transcript(s) of a gene.</p>APPRIS ALT2, |
| CC2D2A-210 | ENST00000512702.6 | 3676 | 687aa | ENSP00000422875.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | D6R9V3 | - | <p>TSL 2: A transcript where the best supporting mRNA is flagged as suspect or the support is from multiple ESTs</p><p>The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users, based on the type and quality of the alignments used to annotate the transcript.</p>TSL:2, The GENCODE set is the gene set for human and mouse. <a href="/Help/Glossary?id=500" class="popup">GENCODE Basic</a> is a subset of representative transcripts (splice variants).GENCODE basic, |
| CC2D2A-218 | ENST00000651385.1 | 3427 | 638aa | ENSP00000499005.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | A0A494C1C5 | - | The GENCODE set is the gene set for human and mouse. <a href="/Help/Glossary?id=500" class="popup">GENCODE Basic</a> is a subset of representative transcripts (splice variants).GENCODE basic, |
| CC2D2A-214 | ENST00000514450.3 | 1121 | 276aa | ENSP00000502062.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | - | - | <p>TSL 3: A transcript where the only support is from a single EST</p><p>The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users, based on the type and quality of the alignments used to annotate the transcript.</p>TSL:3, The GENCODE set is the gene set for human and mouse. <a href="/Help/Glossary?id=500" class="popup">GENCODE Basic</a> is a subset of representative transcripts (splice variants).GENCODE basic, |
| CC2D2A-213 | ENST00000514039.6 | 969 | 322aa | ENSP00000488534.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | A0A0J9YXT3 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, <p>TSL 3: A transcript where the only support is from a single EST</p><p>The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users, based on the type and quality of the alignments used to annotate the transcript.</p>TSL:3, |
| CC2D2A-219 | ENST00000652443.1 | 754 | 62aa | ENSP00000502719.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | - | - | The GENCODE set is the gene set for human and mouse. <a href="/Help/Glossary?id=500" class="popup">GENCODE Basic</a> is a subset of representative transcripts (splice variants).GENCODE basic, |
| CC2D2A-217 | ENST00000650860.2 | 5513 | 963aa | ENSP00000498775.1 | Nonsense mediated decay | - | A0A494C0X1 | - | - |
| CC2D2A-216 | ENST00000634028.2 | 4784 | 1411aa | ENSP00000488669.2 | Nonsense mediated decay | - | A0A0J9YY35 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, <p>TSL 1: A transcript where all splice junctions are supported by at least one non-suspect mRNA.</p><p>The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users, based on the type and quality of the alignments used to annotate the transcript.</p>TSL:1, |
| CC2D2A-223 | ENST00000676337.1 | 4588 | 963aa | ENSP00000501728.1 | Nonsense mediated decay | - | - | - | - |
| CC2D2A-208 | ENST00000511544.6 | 1038 | 73aa | ENSP00000426109.2 | Nonsense mediated decay | - | A0A0M3HER0 | - | <p>TSL 1: A transcript where all splice junctions are supported by at least one non-suspect mRNA.</p><p>The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users, based on the type and quality of the alignments used to annotate the transcript.</p>TSL:1, |
| CC2D2A-212 | ENST00000513811.5 | 2744 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | <p>TSL 1: A transcript where all splice junctions are supported by at least one non-suspect mRNA.</p><p>The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users, based on the type and quality of the alignments used to annotate the transcript.</p>TSL:1, |
| CC2D2A-222 | ENST00000675768.1 | 2447 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | - |
| CC2D2A-221 | ENST00000675619.1 | 4929 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | - |
| CC2D2A-209 | ENST00000512202.1 | 600 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | <p>TSL 4: A transcript where the best supporting EST is flagged as suspect</p><p>The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users, based on the type and quality of the alignments used to annotate the transcript.</p>TSL:4, |
| CC2D2A-207 | ENST00000510220.1 | 406 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | <p>TSL 3: A transcript where the only support is from a single EST</p><p>The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users, based on the type and quality of the alignments used to annotate the transcript.</p>TSL:3, |
| CC2D2A-211 | ENST00000513035.2 | 406 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | <p>TSL 2: A transcript where the best supporting mRNA is flagged as suspect or the support is from multiple ESTs</p><p>The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users, based on the type and quality of the alignments used to annotate the transcript.</p>TSL:2, |
