Description
presenilin 2 (Alzheimer disease 4) [Source:HGNC Symbol;Acc:9509]
Gene Synonyms
AD3L, AD4, CMD1V, PS2, PSNL2, STM2
Location
Chromosome 1: 227,057,885-227,083,806 forward strand.
GRCh37:CM000663.1
About this gene
This gene has 13 transcripts (splice variants), 1 paralogue and is associated with 4 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000366783.3 | PSEN2-001 | 2302 | 448aa | ENSP00000355747.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS1556 | B4DVM3 E5RFW4 E5RG63 E5RHT1 E5RJM5 P49810 | NM_012486.2 | 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, |
| ENST00000366782.1 | PSEN2-002 | 2465 | 481aa | ENSP00000355746.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B1AP22 B4DVM3 E5RFW4 E5RG63 E5RHT1 E5RJM5 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000340188.4 | PSEN2-201 | 2201 | 415aa | ENSP00000339860.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C9J5P7 E5RHT1 E5RJM5 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000391872.2 | PSEN2-202 | 1972 | 481aa | ENSP00000375745.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B1AP22 B4DVM3 E5RFW4 E5RG63 E5RHT1 E5RJM5 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000422240.2 | PSEN2-007 | 1947 | 447aa | ENSP00000403737.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS44324 | E5RFW4 E5RHT1 E5RJM5 P49810 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000472139.2 | PSEN2-006 | 1163 | 304aa | ENSP00000427806.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E5RFW4 E5RG63 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000460775.1 | PSEN2-005 | 782 | 144aa | ENSP00000427912.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E5RFW4 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000524196.1 | PSEN2-010 | 734 | 21aa | ENSP00000429036.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E5RJM5 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000495488.1 | PSEN2-004 | 627 | 129aa | ENSP00000429682.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E5RHT1 E5RJM5 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000496965.1 | PSEN2-003 | 1614 | 360aa | ENSP00000430647.1 | Nonsense mediated decay | E5RFW4 E5RHT1 E5RJ26 E5RJM5 | - | - | |
| ENST00000471728.1 | PSEN2-009 | 570 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000487450.1 | PSEN2-008 | 566 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000521431.1 | PSEN2-011 | 730 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
