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 142 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 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | - | - | - |
