AC T04038
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ID T04038
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DT 28.11.2000 (created); rio.
DT 20.11.2007 (updated); sba.
CO Copyright (C), QIAGEN.
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FA Gscl
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SY goosecoid like; Gsc-2.
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OS human, Homo sapiens
OC eukaryota; animalia; metazoa; chordata; vertebrata; tetrapoda; mammalia; eutheria; primates
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GE G002117 GSC2; HGNC: GSC2.
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HO Gsx (chick) T04040, Gsc.
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CL C0006; homeo; 3.1.3.9.2.
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SF chromosomal location (22q11.2) in the critical region of DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS) [2] [3];
SF 87% and 78% amino acid identity to chick Gsx T04040 and murine Gscl T04039 [1];
SF may be regulated by Gsc T04037 or Gscl itself [1];
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CP (embryo 9 weeks:) brain [1].
CN (fetus:) brain, lung, liver, kidney, (adult:) heart, brain, placenta, lung, liver, skeletal muscle, kidney, pancreas [1].
EX colon,,,adult; none; Northern blot; mRNA (poly-A); [3].
EX heart,,,fetal-7; none; RT-PCR; RNA (undefined); [3].
EX human, Homo sapiens,leucocyte,,adult; none; Northern blot; mRNA (poly-A); [3].
EX muscles,,,adult; none; RT-PCR; RNA (undefined); [3].
EX ovary (right and left),,,adult; none; Northern blot; mRNA (poly-A); [3].
EX pituitary gland of diencephalon,,,adult; detectable; RT-PCR; RNA (undefined); [3].
EX prostate gland,,,adult; none; Northern blot; mRNA (poly-A); [3].
EX small intestine,,,adult; none; Northern blot; mRNA (poly-A); [3].
EX spleen,,,adult; none; Northern blot; mRNA (poly-A); [3].
EX testis (right and left),,,adult; detectable; Northern blot; mRNA (poly-A); [3].
EX testis (right and left),,,adult; detectable; RT-PCR; RNA (undefined); [3].
EX thymus,,,adult; none; Northern blot; mRNA (poly-A); [3].
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MX M04325 V$GSC2_01.
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DR TRANSPATH: MO000027947.
DR UniProtKB: O15499;
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RN [1]; RE0015377.
RX PUBMED: 9441739.
RA Funke B., Saint-Jore B., Puech A., Sirotkin H., Edelmann L., Carlson C., Raft S., Pandita R. K., Kucherlapati R., Skoultchi A., Morrow B. E.
RT Characterization and mutation analysis of goosecoid-like (GSCL), a homeodomain-containing gene that maps to the critical region for VCFS/DGS on 22q11
RL Genomics 46:364-372 (1997).
RN [2]; RE0015383.
RX PUBMED: 9037598.
RA Galili N., Baldwin H. S., Lund J., Reeves R., Gong W., Wang Z., Roe B. A., Emanuel B. S., Nayak S., Mickanin C., Budarf M. L., Buck C. A.
RT A region of mouse chromosome 16 is syntenic to the DiGeorge, velocardiofacial syndrome minimal critical region
RL Genome Res. 7:17-26 (1997).
RN [3]; RE0015385.
RX PUBMED: 9150167.
RA Gottlieb S., Emanuel B. S., Driscoll D. A., Sellinger B., Wang Z., Roe B., Budarf M. L.
RT The DiGeorge syndrome minimal critical region contains a goosecoid-like (GSCL) homeobox gene that is expressed early in human development
RL Am. J. Hum. Genet. 60:1194-1201 (1997).
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//