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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for LAMTOR2 (Homo sapiens) (Information is obtained from NCBI Gene database)

Entrez gene ID 28956 Official gene symbol LAMTOR2 Full name roadblock domain containing 3 Aliases ,ENDAP,HSPC003,MAPBPIP,MAPKSP1AP,ROBLD3,Ragulator2,p14, Gene summary The product of this gene is highly conserved with a mouse protein associated with the cytoplasmic face of late endosomes and lysosomes. The mouse protein interacts with MAPK scaffold protein 1, a component of the mitogen-activated protein kinase pathway. In humans, a mutation in this gene has been associated with a primary immunodeficiency syndrome, and suggests a role for this protein in endosomal biogenesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] Location Chromosome: 1   Locus: 1q22 Gene position 156024517 - 156028301  Map Viewer Gene orientation plus Gene size 3785 bp Gene sequence >ROBLD3:7513159..7516943:Length=3785 GGTGGGGCGGGGTTGAGTCGGAACCACAATAGCCAGGCGAAGAAACTACAACTCCCAGGG CGTCCCGGAGCAGGCCAACGGGACTACGGGAAGCAGCGGGCAGCGGCCCGCGGGAGGCAC CTCGGAGATCTGGGTGCAAAAGCCCAGGGTTAGGAACCGTAGGCATGCTGCGCCCCAAGG CTTTGACCCAGGTGCTAAGCCAAGCCAACACTGGAGGCGTCCAGAGCACCCTGTGAGTGC AGACCACGGACCCGAGCGGCGAGCGCTGCAGTGGGGCGGCGCGCGGCTCCCTGAGGGAGG GGTGGGGAAGGATCACCAGGAAGGGAGGAAGCGGCAGAGGGGGCAGCGGCTGGGGATACC GGCCGGGAGGTCCCCTGTCGAAAAGGGAAGCCGGTGTGCTGGGTGCTTAGGGCATGTTCC GGGACACGCTCAGGCCAGAGCCTTGCTGGATGTGCCCTTGGTGGGACTTGGGATGGAAAC CCAGACGTTTTACTCCCCGCTCTGAGCACATCGCTATCCCTCCCCGCCCCTCACCAGGCT GCTGAATAACGAGGGATCACTGCTGGCCTACTCTGGTTACGGGGACACTGACGCCCGGGT CACCGCTGCCATAGCCAGTAACATCTGGGCCGCCTACGACCGGAACGGGAACCAAGCGTT TAATGAAGACAATCTCAAATTCATCCTCATGGACTGCATGGTATGGAGAGGGGAGCCAGA CTTCCCCTGTCCCCCAAAGGGGATCCCAAGGGGGCGACCTGGACCCCATCCTGGATGGTT GGAGGGGCAGGGACAGGATCTCCGGAAGATTACTAAGAGTTGGTCTGCAGCAGCATTTGT AATAGGCAGGACCCTATTCATCAAGTGGTGGTGAGGAAGGATCCCTGGACCTGAGAGGTC TGACTTGGGTTCTGGTCTCAGCCATCCACTTATCAGTTGTGGAACCTTGGGTAAGTCGCT TAACCTCTCTCAGCTTCCTTACCTCATGTTTAAGGAGAAGACAATAATTTCCCTCTCCCC GCTCCCCTCATGGGTTGTTGTGAAGGTCAGATGAAATAATGGGTATAAACAGTAGAATGA CGTGCAAACACAAAGTGTTGTCATCCCAGTTTCACCGACTCACAGAACCATGGCAGTCTC CAGACCCTAGTCCAACCCCTTAAGCTTTCAAAGAAAGGAAAATGAAGTCCAGAAAGGGGA AGTCACCATTAGATTGTGAACTTCTTAGTATCTGTTCGGTCGACAAGTATTTAGGTCCTT GCAGTATTCTCAGGACTAGGGAAAAAATAGCAAACAGAAAGACAAAACCCCCAGCCCTAA TAAATCTTACACAGTGATACAATCACGGCTCACTGCAGCCTCGACCTCCCTGGGCTCAGG TGATCCTCCTGCCCCAGCCTCCTGAGTAGCCGGGACTACAGACATGCACCACCACACCTC GCTAATTTTTGCATTTTTCCAGAGACTGGGTTTTGCCATGTTGCCCAGGCTGGTCTCAAA CTCCTGGCTCAAGCGATCTACCCACGTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GTCACTGTGCCTGGCCACATTTTTTAAAATAAGTAAAATATATAGTATATATTAGGTATT GAAAATGCAATGGAGAGAAAGCAGGGAAGTGAAAGAGTATGAGTTTGTTGGGTGTATGTG TCAGGGACAGTCTCACTGAAAAGGTGACATTTGATCAATGATCTGAAGAAAGGTGGGGGA CAAGCCATGTGGTTATCTGAGGGAAGAATATTTTGGACAGAACAGCAAGTACCAAGGCCC TGAGGCAGAATTATGCCTGCTCAAGGATCAACAGGGTTGGTTGGTATGGCTGGAGTTACG TGAGATGGAGGAGGGTAGTAGGAGATGAGGTCAGAGAGGCAGGGAGTGCAGTGCTTGGTT CCTGGCATACAATAAATACCTAGTAAAAGTTTGCTGAACTTACTTTTGTTTTTTTCAAAT TGGCCAGAAGGTGAACTCTCCAGGAAGGATCTTCATTGTAACTCAACTGCCTACTCTCCC CTACCCCCTGCACAACCAATGCCATTTTTAGTTCAACATATGACTCCTACTGGATGCCTA GAGCTGGTGCTATAGGGCAATAGCTTTCAAACGTTTTGACCACAACCCAGCCATAAGAAA TACATTTTAAGGGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCC GAGGCGGGCGGATCACAAAGTCAGGTGTTCAAGACCAGCCTGGCCAACATGGTGAAACCC CATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGTGCGTGCCTGTAATCCCAGC CACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGTGGTTGCAGTGAGC CGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAA AAAAAAAAAAAGAAATACATTTTAAGGCTGAGCACAGTGCCTCACTCCTGTAATCCCAAC ACTTTGGGAGGCTGAGGCTGGAGGATTATCTGAGGCCAGGAGTTCAAGACCAGCCTTGGT GACCTAATAAGACCCCATCTCTACAAAAAAAATTTTAATAAATAAATAAATAGGAAAAAA TTTTTTAAGAAAGACATTTTAAGTCAGAGCTCAACACACACATAGACCCACTAAAACAAA AGTCATGAAACAATACTTTTCCTACTACATGTAATATACTTCATTTTTTCTTTTTTGGTT TTTAATGCTGATCAACCTTCTTAATTTATCTCCTAACTGTGGGGTCAAATCTGCAATTTG AAAAACATTACCATGGGAAAAGAGGAGAAATACCAGTTGGGTTACCACTCCCATGCCCCT CTCAGTGTCTGTGGGGTGAGCTCACAGTAATAACATCACTCATTTGGACAACTGTTGGCA GATATGAAATTTCATGGTATTAGCACCCTCACCAACTGGGATGAGGTAGGGATTACAGAA AGAAAAACTGAATTTCTGAGAGACTAAGTTTCCCAGAGTAACATGGTTAGTAGGTGGCTG TGCTGAGGCTGGAACCTGGGCTCAGAACCCCATGTTCAGGGCTGTGGCCAAAAGCTTTTC CGCTGAACTTCCTGCTGTGCCCAGGGCATGGGAGGAAGATATAGTCTCTCTGGGGCCAGA GAAGCCTTTGGGGAAGGAGGGTGCTAAGGGTGCCAAGCAGAACATCACATCCCATCATAT CACCCCCACCAGGAGGGCCGTGTAGCCATCACCCGAGTGGCCAACCTTCTGCTGTGTATG TATGCCAAGGAGACCGTGGGCTTTGGAATGCTCAAGGCCAAGGTGTGTATGTGCCCATCC CTCCATAGCCCTGGGCCCAGCCTTCGTGCTTCTACACTGTGTTCACTCCCACCAGGACCC TGTTTCTAGAGTTCTCATGTCTACTCAGTCCATTTCTGGTGTGGGCCAGCTCCCAAGAGC AGGTGGGGGTTGGGGGCTGGTTGCTTCCTATGGCACTGGGAGCAGACCTGGATTTGGGGT CCCTAATGCCAGGCTGTGTGCGGGACTGATCTCTGTTCTCCCTCTGCAGGCCCAGGCTTT GGTGCAGTACCTGGAGGAGCCCCTCACCCAAGTGGCGGCATCTTAACGGCATTGGTGGAA GCTGGGGTCAGAAAAGAGAAATGACCATTTGGAGGGGCGGGGCCTCCTAGAAGAACCTTC TTAGACAATGGGGGGAGGATGGGACTTTGTTTTTTCCAAGAATAAACTTCAACTCCTGTC ATGTG OMIM ID 610389