QuickView for NBEA;jsessionid=1F7F2CC3FE0387F79CEBF3DAE51E30AC (gene)

Gene Symbol:

NBEA Homo sapiens

Full name:

neurobeachin

Synonyms:

BCL8B, LYST2, neurobeachin, lysosomal-trafficking regulator 2

Genomic Location:

Chr 13: 34414456-35144873

Description:

This gene encodes a member of a large, diverse group of A-kinase anchor proteins that target the activity of protein kinase A to specific subcellular sites by binding to its type II regulatory subunits. Brain-specific expression and coat protein-like membrane recruitment of a highly similar protein in mouse suggest an involvement in neuronal post-G...

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This gene encodes a member of a large, diverse group of A-kinase anchor proteins that target the activity of protein kinase A to specific subcellular sites by binding to its type II regulatory subunits. Brain-specific expression and coat protein-like membrane recruitment of a highly similar protein in mouse suggest an involvement in neuronal post-Golgi membrane traffic. Mutations in this gene may be associated with a form of autism. This gene and its expression are frequently disrupted in patients with multiple myeloma. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants may exist, but their full-length nature has not been determined.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  C. elegans ,  Macaca mulatta ,  Gallus gallus ,  Pan troglodytes ,  Canis lupus familiaris ,  Bos taurus ,  Danio rerio

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

CTTGTAT_MIR381 ,  TTTGCAC_MIR19A_MIR19B ,  DR3_Q4 ,  AAGCCAT_MIR135A_MIR135B ,  GCATTTG_MIR105 ,  AREB6_02 ,  AAAGGGA_MIR204_MIR211 ,  NFAT_Q6 ,  YTATTTTNR_MEF2_02 ,  GCANCTGNY_MYOD_Q6 ,  CTTTGCA_MIR527 ,  TGTGTGA_MIR377 ,  TTTGTAG_MIR520D ,  RNCTGNYNRNCTGNY_UNKNOWN ,  ATGTACA_MIR493 ,  TTGCACT_MIR130A_MIR301_MIR130B ,  SREBP1_Q6 ,  CTTTGA_LEF1_Q2 ,  ATGGYGGA_UNKNOWN ,  GCCATNTTG_YY1_Q6 ,  CTTTGTA_MIR524 ,  WTGAAAT_UNKNOWN ,  MEF2_02 ,  GTGTGAG_MIR342 ,  AR_Q6 ,  CATTTCA_MIR203 ,  CAGGTA_AREB6_01 ,  CATGTAA_MIR496 ,  CAGGTG_E12_Q6 ,  CACCAGC_MIR138 ,  GCACTTT_MIR175P_MIR20A_MIR106A_MIR106B_MIR20B_MIR519D ,  AREB6_01 ,  AAGGGAT_MIR188 ,  ATGTTTC_MIR494 ,  CTTTAAR_UNKNOWN ,  AGGTGCA_MIR500 ,  CACGTTT_MIR302A ,  AREB6_03 ,  GGCACTT_MIR519E ,  ATATGCA_MIR448 ,  CCAGGGG_MIR331 ,  MEF2_03 ,  CTGCAGY_UNKNOWN ,  TGCACTT_MIR519C_MIR519B_MIR519A ,  CAGCCTC_MIR4855P ,  RCGCANGCGY_NRF1_Q6 ,  CAGCTG_AP4_Q5 ,  AP4_Q5 ,  CACTTTG_MIR520G_MIR520H ,  LMO2COM_01 ,  LBP1_Q6

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miRNA binding sites
(Source: TargetScan):

Predicted Gene Targets for miR-129 ,  Predicted Gene Targets for miR-130 ,  Predicted Gene Targets for miR-135 ,  Predicted Gene Targets for miR-138 ,  Predicted Gene Targets for miR-148 ,  Predicted Gene Targets for miR-153 ,  Predicted Gene Targets for miR-181 ,  Predicted Gene Targets for miR-19 ,  Predicted Gene Targets for miR-190 ,  Predicted Gene Targets for miR-194 ,  Predicted Gene Targets for miR-20 ,  Predicted Gene Targets for miR-204 ,  Predicted Gene Targets for miR-21 ,  Predicted Gene Targets for miR-218 ,  Predicted Gene Targets for miR-330 ,  Predicted Gene Targets for miR-331 ,  Predicted Gene Targets for miR-342 ,  Predicted Gene Targets for miR-377 ,  Predicted Gene Targets for miR-381 ,  Predicted Gene Targets for miR-448 ,  Predicted Gene Targets for miR-485-5p ,  Predicted Gene Targets for miR-494 ,  Predicted Gene Targets for miR-539 ,  Predicted Gene Targets for miR-137 ,  Predicted Gene Targets for miR-188 ,  Predicted Gene Targets for miR-203 ,  Predicted Gene Targets for miR-409-5p ,  Predicted Gene Targets for miR-421 ,  Predicted Gene Targets for miR-488 ,  Predicted Gene Targets for miR-493-5p ,  Predicted Gene Targets for miR-496 ,  Predicted Gene Targets for miR-500

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Cytogenetic Map:

13q13.3

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