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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for SHOX2 (Homo sapiens) (Information is obtained from NCBI Gene database)

Entrez gene ID 6474 Official gene symbol SHOX2 Full name short stature homeobox 2 Aliases ,OG12,OG12X,SHOT, Gene summary This gene is a member of the homeobox family of genes that encode proteins containing a 60-amino acid residue motif that represents a DNA binding domain. Homeobox genes have been characterized extensively as transcriptional regulators involved in pattern formation in both invertebrate and vertebrate species. Several human genetic disorders are caused by aberrations in human homeobox genes. This locus represents a pseudoautosomal homeobox gene that is thought to be responsible for idiopathic short stature, and it is implicated in the short stature phenotype of Turner syndrome patients. This gene is considered to be a candidate gene for Cornelia de Lange syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq] Location Chromosome: 3   Locus: 3q25-q26.1 Gene position 157823952 - 157813800  Map Viewer Gene orientation minus Gene size 10153 bp Gene sequence >SHOX2:complement(64308946..64319098):Length=10153 CCTCCTCCCTCTCCTCCCCCACCTCCTGTCCCATTGATGTGTTATTATTGGGGGGGCTGG AGCAGTAAAAAAAGAAGAAGGAAAAAAAGAGCGGGGCTCTGCTGGCAGAGGTTGAGCGCC GGGCTGACGTGCGGCGGCGATGGAAGAACTTACGGCGTTCGTCTCCAAGTCTTTTGACCA GAAAGTGAAGGAGAAGAAGGAGGCGATCACGTACCGGGAGGTGCTGGAGAGCGGGCCGCT GCGCGGGGCCAAGGAGCCGACCGGCTGCACCGAGGCGGGCCGCGACGACCGCAGCAGCCC GGCAGTCCGGGCGGCCGGCGGAGGCGGCGGCGGAGGAGGCGGAGGCGGCGGCGGAGGAGG CGGAGGAGGTGTAGGAGGAGGAGGAGCAGGCGGAGGAGCTGGAGGAGGGCGCTCTCCCGT CCGGGAGCTGGACATGGGCGCCGCCGAGAGAAGCAGGGAGCCGGGCAGCCCGCGACTGAC GGAGGGTAACGACCTGACTGACCCCCGGCAGCGGTTCCCCTTCCCGCCTTCCGGACTCCT CTCGGGCGGGAGAGGACTCCGAGGCCCAGCGGGGAGGGGAGAGGGACACGGAGAGGGCCC TGGACCCCAGCTTTGTCAGCTAGAGTGATAGTGGAAGGGTGGGGGTCCGGTGGTATGCTC GGTCATGGGTGGGGTCCTAGTGTGTTGTGGGGGTGGCGTGGGGGGAAGCGTGTGGGGTTT GTGCGCGCCCTTCCCAGATGTTCCCATTCCACCGAAATGCATTTTTCACCAGCGGGAGGA TGGGCCCGCAGCCCGGATGGCCCGCAGGCGGACGTGGAAGTTCGCGGGGCCGGGCTGCAG GAGGGGGTGCTGAACCAGACGGCGGGACTAAAGCTAGCCTCTAGCGCAGAGTTTGCCGGG AGGGAGAAGGGGCAGAGGTGGAAAGCTTAACCCTCCGGTCGCCTAGGTGTTTGGGGCCGC CAAGACCCCTCGAACTCCGCAGAGCCCCTGAATCTTTGGATCTTAGGGGCCAAAACTTCC CATTCTCTTTCAAGGTAGAAGGAAGCCAACGAAAGCTGAGGTCCAGGCTACGCTGCTTCT CCCGGGCGAGGCGTTTCGGTTTCTTGGTGTGTTGGGGGCGGGGGGGGGGGGCGGCGGGGG AGGTGGGGATCTATATTTACACAATTCCTTTAGTGTTTTCAATCACCCAGTACTCGGTTC TCTTAGAGCAAAAATCCTTTGGTGCTAGCTCAGTGTTAGGAAACGTCTTTATCTCAATGG CAGAGCGTTCTATACCAATTCAAAGGAGTTCAACAATAAAATTGATTTGGCACTTGGTGC CTGCAGTAACTGGTGTACTGCCATATTTTTCCAATTAAGAAAATATGTGGCATGCGTGGA ATCACATATTTAAGCAAGCAATTAAGTTGTTTATGACACGGTCTGTTCCTGTTTAGATCA GTAATTGGAAATTTGGGGACAAAAATAGAGATTTTATTAAGTCTATGGATCAACTTGAAA TTTGGACATCTCCTCGAAGCCCCAAAACTTTGAGTGGCATCCACTGTGTAGATGACATGT AATAGACAAAGCCTTCCCACCTCATTGGCAGAATTTGAAGGGTGTGTTTTCATATTTAAA TTTCAATACAATATCAGTAAAAATACTTTGCTATTAAATTGGCCCATAATGTTTACTATA ATGTTCCTTCCTAAAGAAAGGACAAATGTCCACAAAACTAACTCTGAGAACTAGAAAATA CGGCAATATTTAAGATCACCGTAGCTAGAATGCCCGGCAGGGCCGAGATCTAGCGACTCT TCTTCCTCCAAACCAGCACCAGGTCTTCCTAAATTTGTAAAGTGGTGGAGTTACCGTCAA GGTGCCCAGTGCAGCCTCCCGGCCATGAGTCCACAACTACAGGCCCGAACTACAGGTTCG CCAGCGCGCCTGACGGCGAGGTTCAGGTCTGAACCCCCGGCGGGCGCAGTTCCTGGGATT GTTGATTTCCAAGCTCAGGGCAAGTATTAATTTCTCTGCAGACCGGCTCTTCCGGAAATG ATTTTTAACACCCATGCTGGCCTGGATCCTGCGCTGGGAAGAACTGCAAACAGCCTCGAC TATCTAAACTCAGCTTTGACTTCTTAAAACCCGGAGTCTCTGATTCGGGCGCAGAGGATA AAGGTTCCAGGGGGATATATATATGGTGGCTGTATATGCTCACACTAGAAGAGCTCCTGT TTTTAAAGGGAGGAGAAGGACAGGAAAGTGGCAACGGATGTGTGCAAACCCAGAGCAGAA AAATTCATATTTTATTAAACATCCGAGCTGCTGGTTGCATGAAAAGGCTTTGAGCAACCA ATAGAAACCGAGGATCGCGAATATTCCGCTTGAACCTGTTGATCTCTGTGGGTTAAGCGT TTAGGGTCGAGTCTGCGTTTCCACGAGGGAGGGCGAAGAGAGAACAGAAAGAGCGGTTGC TTTCGCCCGCCACCGGAGGCTGGTTTTCCGCCTCCTGCCTTCTGGCCCGGCTTGGGCGGC GAGCCCTTTGGGCAGCCAACATGGCGTGGGCGCCTGTGCTCGTGCGACCCCGGTCGGGCA GGCGGGACGGAGATTACCTGGCTGTCCAGGGGACCTTATGCAGGGTTTGGCCCGAGCCCA GGGGCAGCGAGGGGCGTCTGCGGATGCGGCTCCCTGTGCGGCACAACACCGGGGTCTGTT GCTCTCGCTGATACCTTTCGGCCCAATTGTTCCTAAATTAGACCAGCAAGTTTGCGGTAG GCAGAGAGCCAGCGGTGGTGAGAGCTGGCCTGAGAACGAGCCAGCCTTCTGGGAATGGCC GGTGTGAGAGGCCAGTGGGTGGCCTTGCCGCGCCCTTATGTCCAGACTTTGCTCTGTGAG AGGCCTGGCGCTGCGCCTTTGATTTCTGTGAGTGCTGCGGAGCAAGTGAGTGCGAAAGTG AGTGGAAACCATTTGGTGTTTGCTGGGGAAGGCCGGTGACTGGGGGGTGAATAGTGAGGC GGTGAGTCGAGGTACGTTTGTGAAGGAGGTGGTGGATGACTGCCCACCTTGCCCCAGGCG GCCGCTCAGACTTGACCTTTGCGCTTCTCCGGGATATTCTTCCTCCGGGTGGGTTGAGAA GCCGGACCAGGATTCCACGAGGGGGAAGGATTCTCTATTCTTTTTTGCGACAAATCTGGT AACAGGATTTGCTGTGCTGTTTTCGTCCGTGTGTGTGTGCGTGTGTGTGTGTGTTCGTGT GGATGCACGTGTGGCCCCGCTGGGGTGCCCCCTCCAGTGTCCCCGGAGCTGAAAGATCGC AAAGAGGATGCGAAAGGGATGGAGGACGAAGGCCAGACCAAAATCAAGCAGAGGCGAAGT CGGACCAATTTCACCCTGGAACAACTCAATGAGCTGGAGAGGCTTTTTGACGAGACCCAC TATCCCGACGCCTTCATGCGAGAGGAACTGAGCCAGCGACTGGGCCTGTCGGAGGCCCGA GTGCAGGTACCCAGCTGCCAGGAGGTCGAGGGCCCAGGGAGCAGAGAGAGCCTGGGGTTG GAAAGAGGCTTGGGGGACACACTCGGGAGGTGGTGCTTCTAGTGTCTGGTGTAAGATGAG AAGGAAAGAGATATCTTTACTAGAGGTCTTATTTTCCAAAGTAGATCTTAGTCCTATAGC ACTCCCCTCCTTTTTTTTTTTTCCATCCTAACATATGTTCCCAGAAGAAGAAAGCTGTGC TGGGCTTTCTCCCAGAGTTTCTATAAACCACACCCCCCTTGCCTCGCACTGGCTTTAATG TGGTTTAATCCTAATGGGCCTACTTTTATAAGGCTTAAAAAAAAATCCCACAGAAAACGT TTTATCTCTGGATGCCTTAAAAGTTCCAAAGAGTATTTTGTTCTCTGGAGTTGGATTTCC TTGAAAGTCTGCTCTGCAGGGTCTAGGTTTGTCAAGCGGATATCCCAATTAGGTTTATAG ATGTGCAGACTATAAAGAAAATTAGTAACTGTTAAGTGCAGAAATTTACAGTCTGCTGTT AGCGGTCGATCTCAAACTGTGTGTGAAATAGCGGAGAAATAAACGCATTTTGGTCACTCT TTGTTCATTCATTTAACCAAGGCAACGAAACTGACCCTAAATACATTAGATTTTAAAACA AACCACATATATTAGTATTTATATTTCCAAAGCCTGCCCTCCAGCACGTGCCATACCCAA TGAAGTTAGGACTGAAACAGATTTTCTTTATTGGTTGTGGAGGCAAATGTAATAGCAAAA ATAGGCTTTGGGGGCATTTAAAGGAGCAAATTGTGTACATTCACATACACATATCCTTCT AGCTTTAGGGGGAACAAATTTAAATGTTTCAGATTGTATTTCCGCTCAGATAATAAAATA GAATAAAATGATAGTTATTATTGGTTTGAACACATGGAGCAGTTTTAGGCCCGCACATCT GCAGCTGTTACAAAGTATCGCTGTAACAGATACTCTTTCGGTCTCTGGGCACAGAGACCA CCATCTGTAGCGAACTATGCACAATTCTTAAGGGGCTTCCCCACATCTTGTAACAGGATC AGGAAAAAAAAAAACAGAGCAGTCACGTTGAAGAGGAAAAGTAATAATAGGCTGCCTTGG TCATCACAGCATCAGCAGCAGAGCCTTCCTTTTTAAGCCTCTCCTGCTTCGCTCTGTGCA CTGAGATCTCCAGAGGCTCAGCAACCCCTTAAAAACATGATGATAATTATTACAGTTATG ATTATTAGTATCTTAATTCCAACTCTTCTAGGGGAAAAAAAGGCAAGAAGCCTCAGGCCA TGTGAATTACACAAAGGATGCCACCCTGGCACAAAATCCACCCTCTGTTGTACTAAATAG CAGAGAAATTTTTGAAGATTTACATTGACTATGACACTTGCTTTCAAAAACATACCAATG AAAGCTCTGAAGCAGTATTTTTACTTTAATGGGGTTTTAAAAACTTTAATTTGTGAGTCA ATCAATATGCTTTATTATTGAAAGTGGAATACAAAAGCAAGCTTTATTTGAATTTTAAAA AATCTGTCATACTGCCTGTAAAAGTTGTCAAGTTTAAGCAGGTAACATCCAGGAGAACAA AGTACCTAAGAGTTACTTGCTTTATATATACTTCATTCTCCTTTCGCTGAGTGCTCTTCT TTTTTTCTCTTAAGAAGTGAACTTTATTGTTGTTTCATACTTTTATTTACATTTTAGTTA TTTTCTAGATGTTTTCCTACTATCCTAACTGCAAACAGTGGCTTTTTCTAAAGAAGCAAA TTAGATTATCATGATAATGGTGCACAATTATTCTGCTACTGTGTTTCACTCTGCTGCACA GCAGAACAGAGAAATTCTAAACTTCTTTGTAGTGAGGCTTTTATGACACTAATTACCTCT CCCCAACCCTTACAACTCCTTCTCCGCAAAGGAGTCATTATTTGCTCTGGTGTTTGGTTT TTCTTTAAGATGAAGCTAATTAACATTACAGGCTATTAATGAACACATTCTTCTCAGGTC TTAACTGGGCAAATATCTAAACCATTATCATGTTGGTATCAGGTACCAAGCAGAGTTTTA GGCCATGGGGACTCTGTTATGTGAAAAGATGAAATCAGGACTAATAGTAATCTATCTTGT GAAAGTCTATAAAATCTATCTTTCTATTTCTGTAGTTAATTTACATGTTTAACTTTGGAA TTTGAGGCTGTTTTATACAATTCAAAGATTGCTTGCTGTATCTCCCAATTCTTGTCTAAA CCACGACTCTTTTCTCTTTGTACTTTTGTAATTTAAAAAAATTTTTAGTCATAACATCTA GGTTTTATTTTTTTTCCCCCTCCAACCTATAGGTTTGGTTTCAAAATCGAAGAGCTAAAT GTAGAAAACAAGAAAATCAACTCCATAAAGGTATGCTTCTTATACAAGGAACATTTGATA GTCTGAGCAAAGAGAGAAGTAGTGAATATTACTATTACAATGACAGAAAAAAAGGAACCT CAAAAATGACAATAGTTCTTGACTTAATAATCTTCAAAGGCTGTTAATGGAGTCCTAAAG TTTGGGAGTAAGTTACATTTATTTAAATTTTGGATGCAGTTTAGAAAGATAATAGTCCAT TTTCAAAGGAATTCGTTCTGTCTTGTACCCTTTGGAACCCTGAAAAATGCTACAAACGTT AACCTCACATTATTTTTCTCTTGTACTTTTTACAGGTGTTCTCATAGGGGCCGCCAGCCA GTTTGAAGCTTGTAGAGTCGCACCTTATGTCAACGTAGGTGCTTTAAGGATGCCATTTCA GCAGGCAAGTACAGCCTAGTTTCAAGCTGTTTTTAAATATGAAAATACCTGAATGTTTGC TTGAACTGTTGAACATCACCTGTCTCTGAGCCCAGATGTCAATGTCTGCATAGTTGGAGA ATCATTTTGAGATGATATAGTGGACCCACTACCCTTTAAAAACCTATACGGTATTAAAGG CCTGAATGCCTAGTCCCTTCTGTCCTCATGGGAATCCCTGAAGGGGCCTGGGGGCAGTAA CTGGTCCTTTAAAAATACACTAAAGATTGCCCTTAGAGAGAGAGGAAGGAAAAGCCTTTT GATTAAGATTTTGTCAAATCCAATACAGAGGTTAGTCCTAAGGTATTTCTAAGGCAACCC TCTAGATACTTTTCTAGGTATTTTCTACCTCTTAGTCACATTAAATAACTCTGACAGAAG AAAAATAAACACAAGTACTCCCAGCTCATACTTTTGTTTTTTCGTTCTTTTGTTTTTAAA TCTGTTTCTGCAAACAAAGCTTCATCTCTGGTAAAGAGAGAAGTCTTGGTCTTCCCAGGG CTGCCCTGCCTTTGCAATCCCTTAGCCATAAAGAAACCTTTAAGAGTACATTTTAAAAGG ACAGCCTGCAGCAATGATTTAATCCTGGGAAATCCCAGTGCTCTGAACTCCCCACTTTCC AAGCCTGAGGGCGAAATCCTTTCCCAACCAGTGTCTGACCTTCCCTATCCTCAGCCAGGA CCCCTGCTTGGCATGCCTGTGATGTCATGAATTAGCTCTCAGTCTCCAGTGACTTGGACC GGGGAGACAGATAGGTGTGACCATGAATTGAGAGTCGGTGTTAGGGAGATCTTAGCTCTC TTGGTGCCACAGGACTCTGGCATCCTGATGCTTGGCTTTGGAAACAAGAGAGAATGACTG AAGAAAGAGGGAGGGGTGACTTTAAAAGGAGACCTTTACTACTCAAAAGGTAATCTTTGG GCCAGCAGCAACAACACCGTCTGGGAGATTGTTAGAAATTCAGAATCTCAGGCCCCAACC TAGACCTTGCGAATCAGAATCTGAATTTTAACGAGATCCCTGGGTAATTGTTATGGCAAT AAAGGTTAGAAGTACCGACTCACAATTGTGCCTATTGTGGTGAAGATGGAGTAACTTCCC TGAATGACATTAAAAAGTTGCGTAGTTTGCTTGTTGATACTCCGTTGTTTTGGTAGTGGG GTAAGAGATGCATGGCAGCATCAAGAGAAGAGGGTAAGGGTCCTCACCCGCAGTCTTTCC AATATACCATTTCAGCCCAGTTCCCAGGGGAGACGGCCACATTCCTGCAGAAGGGGGTTC CCGGGGTCCGGGGAAATAAGCCTACCCTAAGCGAGTTTCGGAGACCCAGGGGACACTGGA GTATCCATGTGGAACCCCAGATTCAGCAACAGGCTGAGAAGGTCACTGTCGGAACAAGAT GCACAGCCAAATGCCCTCTCCCCGTGCCCAAACACAACCCAACTCTCTCTCTGGCCAAGC TGGACGCCGTTAATGCTCTGTTTCTATTCTGTTGTCACCCTAGGATAGTCATTGCAACGT GACGCCCTTGTCCTTTCAGGTTCAGGCGCAGCTGCAGCTGGACAGCGCTGTGGCGCACGC GCACCACCACCTGCATCCGCACCTGGCCGCGCACGCGCCCTACATGATGTTCCCAGCACC GCCCTTCGGACTGCCGCTCGCCACGCTGGCCGCGGATTCGGCTTCCGCCGCCTCGGTAGT GGCGGCCGCAGCAGCCGCCAAGACCACCAGCAAGAACTCCAGCATCGCCGATCTCAGACT GAAAGCCAAAAAGCACGCCGCAGCCCTGGGTCTGTGACGCCAACGCCAGCACCAATGTCG CGCCTGTCCCGCGGCACTCAGCCTGCACGCCCTCCGCGCCCCGCTGCTTCTCCGTTACCC CTTTGAGACCTCGGGAGCCGGCCCTCTTCCCGCCTCACTGACCATCCCTCGTCCCCTATC GCATCTTGGACTCGGAAAGCCAGACTCCACGCAGGACCAGGGATCTCACGAGGCACGCAG GCTCCGTGGCTCCTGCCCGTTTTCCTACTCGAGGGCCTAGAATTGGGTTTTGTAGGAGCG GGTTTGGGGGAGTCTGGAGAGAGACTGGACAGGGGAGTGCTGGAACCGCGGAGTTTGGCT CACCGCAAAGCTGCAACGATGGACTCTTGCATAGAAAAAAAAATCTTGTTAACAATGAAA AAATGAGCAAACAAAAAAATCGAAAGACAAACGGGAGAGAAAAAGAGGAAGGGAACTTAT TTCTTAACTGCTATTTGGCAGAAGCTGAAATTGGAGAACCAAGGAGCAAAAACAAATTTT AAAATTAAAGTATTTTATACATTTAAAAATATGGAAAAACAACCCAGACGATTCTCGAGA GACTGGGGGGAGTTACCAACTTAAATGTGTGTTTTTAAAAATGCGCTAAGAAGGCAAAGC AGAAAGAAGAGGTATACTTATTTAAAAAACTAAGATGAAAAAAGTGCGCAGCTGGGAAGT TCACAGGTTTTGAAACTGACCTTTTTCTGCGAAGTTCACGTTAACACGAGAAATTTGATG AGAGAGGCGGGCCTCCTTTTACGTTGAATCAGATGCTTTGAGTTTAAACCCACCATGTAT GGAAGAGCAAGAAAAGAGAAAATATTAAAACGAGGAGAGAGAAAAATAATATTAACACAA AAAAATGCCACAGACAATGATTTCTCTGAGAAATTATTATGGCAAAACTGTCTGGACTGC TGACAGTAAATTCCGGTTTGCATGTTACTTGTATTCCATTGATGGTGTGTCTCCTCCCAC CCCCTTATCTCCCATGCACTCACTCCATTTTCATCTTCACTATGAAAAACAATACCAAAA GTATCTGGAAATTGATATATATATATCCATATATATATATCATATATTTGCCATATATAT ATATATATATATATATATATATATATATATATATTTGCCCTGTCTTTGATCCTGGGGAAC AAAAGAAAAAAGTCAGAAAGGGAAAAAATTACACTCATTGTCCTAAGAAGACAGAGGTGG GCAGAATATGTGGGGAAAGGAAAAAGAAAACAAGACCACCAAATGAAATAATGAAGGTAC AGCGCCTCGCTGTGCCAGACACAGTAGGCGCTCAATCAGTATTAGTTCCCACCATTCCCC TTTTCTTGTGTTCCTTCTTGTTGGTTTCCTGAAGTCCTATTTGAAGACAGTGGTTTATTT CCCCCTCTCTATCCCGTCAAATTCACCTTAAATAACACCCAGCTAGATACAGGCACTAGG TTTGTGTAAGATATGTTGATACACACGAACAAAGTTTATTTTGACTATAATGTGTGGACT GACTTTCAACATTTGCATTTTATCTCACAAAGGTGTATCTATTCAAGTAACCTTTTTTTT TTGTTTGTTTGTTTCTTTTTTGTTTTTTTTTTTCTTTTGGTTGTTTGTTTCAATTCATGT AGCTATTTAAACTGGGATACCTTGGACTAAGCCAGTCTGTATCCCAATTCGCTAGCAAGC CTAAGTTTGTGGGGTTTTGTTTTTGTTTTTGTTTTACCTTCTAATTTACAAGAAAGAGGA AAAGCTCTTCTAACTGAACTTTGGTATGCGGTTGAGCTTTGTAACTATTTGTTCTCCATG AAAACAAAATTATTTATATTTGACATATTTTTTTCTAGTGTATTAAGTTATTTTAAACAA AAGATGTTATCTCATGACGTGTTGTCAGTACAAAATGTGTCGCCTCCAATTCTGTTAAAC CTTTTAAATAAGTGCCAAGTTATTAATTGAAGACACTTTGCGATCAATTGAATGAAAATA TCGTTTCATTTGA OMIM ID 602504