Description
SMAD family member 4 [Source:HGNC Symbol;Acc:6770]
Gene Synonyms
DPC4, JIP, MADH4, MYHRS
Location
Chromosome 18: 48,494,410-48,611,415 forward strand.
GRCh37:CM000680.1
About this gene
This gene has 17 transcripts (splice variants), 7 paralogues and is associated with 106 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000342988.3 | SMAD4-201 | 8769 | 552aa | ENSP00000341551.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS11950 | K7EIJ2 K7EL15 K7EL18 K7ENG1 K7ENG8 Q13485 Q9BYG6 | NM_005359.5 | 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, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000398417.2 | SMAD4-001 | 8495 | 552aa | ENSP00000381452.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS11950 | K7EIJ2 K7EL15 K7EL18 K7ENG1 K7ENG8 Q13485 Q9BYG6 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000588745.1 | SMAD4-004 | 1371 | 456aa | ENSP00000464901.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | K7EIJ2 K7EIU8 K7EL15 K7EL18 K7ENG1 K7ENG8 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000452201.2 | SMAD4-202 | 1207 | 177aa | ENSP00000409551.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | K7EIJ2 K7EL15 K7EL18 K7ENG1 K7ENG8 L7N2F7 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000591914.1 | SMAD4-008 | 992 | 151aa | ENSP00000466941.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | K7EIJ2 K7EL15 K7EL18 K7ENG1 K7ENG8 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000588860.1 | SMAD4-016 | 779 | 126aa | ENSP00000465878.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | K7EL15 K7EL18 K7ENG1 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000589941.1 | SMAD4-010 | 582 | 120aa | ENSP00000465874.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | K7EL15 K7ENG1 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000589076.1 | SMAD4-006 | 576 | 90aa | ENSP00000466934.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | K7ENG1 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000593223.1 | SMAD4-013 | 568 | 82aa | ENSP00000466118.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | K7ELK2 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000590061.1 | SMAD4-007 | 544 | 140aa | ENSP00000464772.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | K7EIJ2 K7EL15 K7EL18 K7ENG1 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000592186.1 | SMAD4-005 | 1306 | 320aa | ENSP00000468611.1 | Nonsense mediated decay | K7EIJ2 K7EL15 K7EL18 K7ENG1 K7ENG8 K7ES96 | - | - | |
| ENST00000586253.1 | SMAD4-014 | 784 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000592911.1 | SMAD4-009 | 475 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000591126.1 | SMAD4-002 | 4970 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000589706.1 | SMAD4-011 | 563 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000590499.1 | SMAD4-012 | 545 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000585448.1 | SMAD4-015 | 459 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
