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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for GSC2 (Homo sapiens) (Information is obtained from NCBI Gene database)

Entrez gene ID 2928 Official gene symbol GSC2 Full name goosecoid homeobox 2 Aliases ,GSCL, Gene summary Goosecoidlike (GSCL), a homeodomain-containing gene, resides in the critical region for VCFS/DGS on 22q11. Velocardiofacial syndrome (VCFS) is a developmental disorder characterized by conotruncal heart defects, craniofacial anomalies, and learning disabilities. VCFS is phenotypically related to DiGeorge syndrome (DGS) and both syndromes are associated with hemizygous 22q11 deletions. Because many of the tissues and structures affected in VCFS/DGS derive from the pharyngeal arches of the developing embryo, it is believed that haploinsufficiency of a gene involved in embryonic development may be responsible for its etiology. The gene is expressed in a limited number of adult tissues, as well as in early human development. [provided by RefSeq] Location Chromosome: 22   Locus: 22q11.21 Gene position 19137796 - 19136504  Map Viewer Gene orientation minus Gene size 1293 bp Gene sequence >GSC2:complement(2288654..2289946):Length=1293 ATGGCGGCAGCGGCTGGGGGCGCGGCGAGCCGCCGGGGTGCCGGGCGGCCCTGCCCCTTC TCCATCGAGCACATCCTCTCCAGCCTGCCCGAGCGGAGCCTCCCGGCCCGGGCCGCCTGC CCACCGCAGCCCGCCGGTCGCCAGAGCCCCGCGAAGCCAGAGGAGCCCGGGGCGCCCGAG GCTGCGCCCTGCGCCTGCTGCTGCTGCTGCGGCCCCCGCGCGGCGCCCTGCGGGCCCCCA GAGGCGGCCGCCGGGCTGGGTGAGTGGGCGCGGAGCGGGGCGCGGGGCCCGGCGGAGCCC GGGGCGCGGCGCAGTGGGTGCCGAGCTTGGCCCCAGCCCCGCGCCTCACCGCGCCCTCGC TCCGCAGGCGCTCGTCTGGCGTGGCCGCTGAGGCTGGGACCGGCGGTGCCCTTGTCTCTG GGTGCGCCAGCCGGAGGTTCCGGGGCGCTCCCGGGCGCGGTCGGCCCGGGTTCGCAGCGG CGCACGAGGCGCCACCGCACCATCTTCAGCGAAGAGCAGCTGCAGGCGCTCGAGGCGCTT TTCGTGCAGAACCAGTATCCTGACGTGAGTACGCGCGAGCGCCTGGCCGGCCGCATCCGC CTTCGCGAGGAGCGCGTGGAGGTGAGTGCCCCGCCCAGCCTTTCCCCGGAGCGCGCGGGC CGCGGCTACACTGGACTGGGGTCCTGGCGGGCGGGCGCCCTTTGCAAAGACGGCCTCGGC CCAAGCCCCGCCCTGGCGCGCCGGAGGGAGGAGGTCCCTGGACGGCGCTGGGCGTCCGGG GGTATGAGGAGCGGGTGAGAGCAGGGAGGTGCCGCGGGAAAGGAACCGGAGGGCTACTTT TCTTTTCTTTTGTTTTACACTTTCCTCTGGTGACGAAAGAGGCCCGCGTTCACGTCCAGA ATTTGGGAAATTCAGAAGAGCCCGCAACCCAAGAAGGGGCGTCCTGGTCGCCGCCAGCTG GAGGCTGGGGCGGGTACTAAGGGGGTTCCCATCTCGCGTCCAGACCCACCGAGTCTGTCC GCAGCGAATAAGGGCAGGTGGCGCGCAGCCGCGGCCCGGGTGTCGGCTCTACAGCGCCGT CCGCCCACATCCCTGTTGCGAAGCTCCCCTCTCGGTCCCTGTGGGACCCTCGGGAGCCGG TGGGACGCAGGACCTGGGGCTAGGGCTGAGCATTCCCCCCATCCCCAGGTCTGGTTCAAG AACCGCCGGGCCAAATGGCGACACCAGAAGCGCGCGTCGGCTTCCGCGAGGCTCCTGCCC GGCGTCAAGAAGTCCCCGAAGGGGAGCTGCTGA OMIM ID 601845