Gene: [07q35/CASP2] caspase 2 (NEDD2 apoptosis regulatory gene); protease ICH-1 (isoforms L and S); neural precursor cell expressed, developmentally down-regulated 2; holoprosencephaly?;
COM | The CASP2/NEDD2 gene was mapped to Chr 7q34-q35 by FISH (Kumar-1995). This location was refined as Chr 7q35 using radiation hybrid mapping (Tiso-1996)." |
FUN | Acts as a positive regulator of programmed cell death. |
FUN | The biologic activity of CASP2 in the positive regulation of programmed cell death clearly makes it a candidate for tumor suppressor function (Kumar-1995). Overexpression of CASP2/Nedd2 in cultured mammalian cells induces apoptosis that can be blocked by BCL2 (GEM:18q2133/BCL2); see Kumar-1994." |
EXP | L (long) and S (short) forms are produced by alternative splicing (Wang-1994). |
FAG | About a negative regulator of programmed cell death see GEM:11q22/CASP4. |
ASS | Tiso et al. observed that each of the 4 CASP family genes mapped colocalizes with an autosomal dominant malformative disease. They suggested holoprosencephaly as a candidate genetic disease (Tiso-1996) but this suggestion was not confirmed, see GEM:07q36/SHH." |
REF | LOC "Kumar S &: Hum Genet, 95, 641-644, 1995 EXP,FUN,MOU "Kumar S &: Genes Dev, 8, 1613-1626, 1994 IDN,MOU,NOM "Kumar S &: BBRC, 185, N3, 1155-1161, 1992 PRO,LOC,FAG,ASS "Tiso N &: BBRC, 225, N3, 983-989, 1996 COD,SEQ,EXP "Wang L &: Cell, 78, 739-750, 1994 |
SWI | SWISSPROT: P42575 |
KEY | neu, onc, ont, imm, pep |
CLA | coding, basic |
LOC | 07 q35 |
MIM | MIM: 600639 |
EZN | ENZYME: 3.4.22.? |
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