Gene: [13q34/COL4A2] collagen, type IV, alpha 2;


MOP

See GEM:13q34/COL4A1.

LIN

See GEM:13q34/COL4A1.

GEN

The primary transcript (6257 bp) contains the 5'-utl region (238 bp), an open reading frame (5136 bp), and the 3'-utl region (838 bp). The primary translation product contains the hydrophobic signal peptide
(36 amino acids), The N-terminal non-collagen region (21 amino acids), the collagen region (1428 amino acids), and the C-terminal non-collagen region (227 amino acids). The mature A2 peptide contains 1676 amino acids (MM 163774 D); it is 34 amino acids more than A1 peptide does (MM 157625 D)."

FAG

See FAM:COL4/00.0.

PRO

[1] probe HT39: pBR322/PstI/1.7 kb;
[2] probe S54: pBR322/PstI/1.7 kb."

POL

Enzyme Alleles in kb/(Popul Freq) Reference; Probe number
[1] TaqI A1= 2.4/(0.26); A2= 2.0/(0.74) Bowcock-1987; Bowcock-1988; Probe 1 A1= /(0.18); A2= /(0.82) Leppert-1988; Probe 2
[2] EcorV B1= 20.0/(0.76); B2= 15.0/(0.24) Bowcock-1987; Bowcock-1988; Probe 1
[3] NciI C1= 5.2/(0.50); C2= 1.35/(0.50) Bowcock-1987; Bowcock-1988; Probe 1"

REF

PRO,POL "Bowcock AM &: PNAS, 85, 2701-2705, 1988
PRO,POL "Bowcock AM &: CCG, 46, (HGM9), 585, 1987
PRO,SEQ,EXP,MOP "Hostikka SL, Tryggvason: JBC, 263, N36, 19488-19493, 1988
PRO "Hostikka SL &: FEBS Lett, 216, 281-286, 1987
PRO,POL "Leppert &: CCG, 46, (HGM9), 648, 1987
PRO,LOC,FAG,EVO "see GEM:13q34/COL4A1 and FAM:COLL/00.0

SWI

SWISSPROT: P08572

KEY

exce

CLA

coding, basic

LOC

13 q34

MIM

MIM: 120090

Смотрите также:

  • Коллагены IV: мутации
  • HUGEN-Коллаген
  • HUGEN-проколлаген