HIX0001647: Presenilin-2 (EC 3.4.23.-) (PS-2) (STM-2) (E5-1) (AD3LP) (AD5) [Contains: Presenilin-2 NTF subunit; Presenilin-2 CTF subunit].
Chromosome: 1
Position: 227058273..227083806 (25.5Kbp)
Strand: +
Number of RASVs: 3
ORF:
Full-length
Truncated
NMD
UTR
Splice-site:
GT-AG
GC-AG
AT-AC
Other
NAGNAG
AS:
AS exon
AS junction
Polymorphism:
SNP
Locus and transcript information
AS locus
RASV
Other ASV
Hyperlink management |
HUGO |
OMIM |
Cell type |
Tissue type |
Development stage |
Sex |
Definition |
HIT000193897 |
PSEN2 |
606889 |
colon cancer cell |
brain and colon |
fetus and adult |
|
Presenilin-2 (EC 3.4.23.-) (PS-2) (STM-2) (E5-1) (AD3LP) (AD5) [Contains: Presenilin-2 NTF subunit; Presenilin-2 CTF subunit]. |
HIT000425096 |
PSEN2 |
606889 |
|
testis |
|
|
Presenilin 2 isoform 2. |
RefSeq
ID |
Definition |
NM_000447 |
Homo sapiens presenilin 2 (Alzheimer disease 4) (PSEN2), transcript variant 1, mRNA. |
NM_012486 |
Homo sapiens presenilin 2 (Alzheimer disease 4) (PSEN2), transcript variant 2, mRNA. |
Ensembl
ID |
Definition |
ENST00000366782 |
Presenilin-2 (PS-2)(EC 3.4.23.-)(STM-2)(E5- 1)(AD3LP)(AD5) [Contains Presenilin-2 NTF subunit;Presenilin-2 CTF subunit] [Source:UniProtKB/Swiss- Prot;Acc:P49810] |
ENST00000366783 |
Presenilin-2 (PS-2)(EC 3.4.23.-)(STM-2)(E5- 1)(AD3LP)(AD5) [Contains Presenilin-2 NTF subunit;Presenilin-2 CTF subunit] [Source:UniProtKB/Swiss- Prot;Acc:P49810] |
ENST00000391872 |
Presenilin-2 (PS-2)(EC 3.4.23.-)(STM-2)(E5- 1)(AD3LP)(AD5) [Contains Presenilin-2 NTF subunit;Presenilin-2 CTF subunit] [Source:UniProtKB/Swiss- Prot;Acc:P49810] |
ENST00000422240 |
Presenilin-2 (PS-2)(EC 3.4.23.-)(STM-2)(E5- 1)(AD3LP)(AD5) [Contains Presenilin-2 NTF subunit;Presenilin-2 CTF subunit] [Source:UniProtKB/Swiss- Prot;Acc:P49810] |
ENST00000340188 |
Presenilin-2 (PS-2)(EC 3.4.23.-)(STM-2)(E5- 1)(AD3LP)(AD5) [Contains Presenilin-2 NTF subunit;Presenilin-2 CTF subunit] [Source:UniProtKB/Swiss- Prot;Acc:P49810] |