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 |
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