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.?

鸯铗痂蝈 蜞赕:

  • Gene: [11q22/CASP1] caspase 1, apoptosis-related cysteine protease; interleukin 1, beta, convertase;
  • Gene: [12q22/NEDD1] neural precursor cell expressed, developmentally down-regulated 1;