Description
Fanconi anemia, complementation group D2 [Source:HGNC Symbol;Acc:3585]
Gene Synonyms
FA-D2, FA4, FACD, FAD, FAD2, FANCD
Location
Chromosome 3: 10,068,098-10,143,614 forward strand.
GRCh37:CM000665.1
About this gene
This gene has 13 transcripts (splice variants) and is associated with 93 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000287647.3 | FANCD2-001 | 5219 | 1471aa | ENSP00000287647.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS2595 | Q9BXW9 | NM_033084.3 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000419585.1 | FANCD2-002 | 5185 | 1451aa | ENSP00000398754.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS33696 | Q9BXW9 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000383807.1 | FANCD2-202 | 5102 | 1451aa | ENSP00000373318.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS33696 | Q9BXW9 | NM_001018115.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000383806.1 | FANCD2-201 | 5008 | 1249aa | ENSP00000373317.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | Q9BXW9 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000431693.1 | FANCD2-003 | 2450 | 241aa | ENSP00000399354.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | Q9BXW9 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000421731.1 | FANCD2-004 | 3425 | 749aa | ENSP00000389936.1 | Nonsense mediated decay | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000435522.1 | FANCD2-005 | 567 | 38aa | ENSP00000402166.1 | Nonsense mediated decay | F8WE37 | - | - | |
| ENST00000438741.1 | FANCD2-008 | 558 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000470757.1 | FANCD2-011 | 547 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000483276.1 | FANCD2-006 | 505 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000470028.1 | FANCD2-012 | 449 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000480909.1 | FANCD2-010 | 603 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000464934.1 | FANCD2-007 | 563 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
