KEGG   Homo sapiens (human): 23218
Entry
23218             CDS       T01001                                 
Symbol
NBEAL2, BDPLT4, GPS
Name
(RefSeq) neurobeachin like 2
  KO
K23286  neurobeachin-like protein 1/2
Organism
hsa  Homo sapiens (human)
Disease
H02097  Gray platelet syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    23218 (NBEAL2)
Membrane trafficking [BR:hsa04131]
 Endosome - Lysosome transport
  Others
   Others
    23218 (NBEAL2)
SSDB
Motif
Pfam: Beach DUF4800 NBCH_WD40 DUF4704 WD40 PH_BEACH Neurobeachin Laminin_G_3
Other DBs
NCBI-GeneID: 23218
NCBI-ProteinID: NP_055990
OMIM: 614169
HGNC: 31928
Ensembl: ENSG00000160796
UniProt: Q6ZNJ1
Position
3:46979666..47009701
AA seq 2754 aa
MAASERLYELWLLYYAQKDLGYLQQWLKAFVGAFKKSISLSSLEPRRPEEAGAEVPLLPL
DELHVLAEQLHQADLEQALLLLKLFIILCRNLENIEAGRGQVLVPRVLALLTKLVAELKG
CPPPQGRGTQLENVALHALLLCEGLFDPYQTWRRQRSGEVISSKEKSKYKFPPAALPQEF
SAFFQESLQNADHLPPILLLRLIHLFCAVLAGGKENGQMAVSDGSVKGLLSVVRGWSRGP
APDPCLVPLALEALVGAVHVLHASRAPPRGPELRALLESYFHVLNADWPAGLSSGPEEAL
VTLRVSMLDAIPMMLACEDRPVLQATFLSNNCFEHLTRLIQNSKLYLQSRAPPEGDSDLA
TRLLTEPDVQKVLDQDTDAIAVHVVRVLTCIMSDSPSAKEVFKERIGYPHLQEVLQSHGP
PTHRLLQELLNMAVEGDHSMCPPPPIRNEQPVLVLAQWLPSLPTAELRLFLAQRLRWLCD
SCPASRATCVQAGLVGCLLETLSTGLALEARCQEQLLALLQALGRVSIRPMELRHLLRPR
PGLDSEPGGAEAGKARHAGAVIRTLSGMARHQGPARALRYFDLTPSMAGIMVPPVQRWPG
PGFTFHAWLCLHPMDTAPTPAPTRPLQRKQLYSFFTSSGSGFEAFFTAAGTLVVAVCTRK
EYLTMSLPEVSFADSAWHCVAIVHVPGRRPFSQNLVHVYKDGHLVKTAPLRCPSLSEPFS
SCCIGSAGYRTTTTTTGLPTPPVPATLAYTHPALTRSQSVPASTGLGWGSGLVAPLQEGS
IDSTLAGTQDTRWGSPTSLEGELGAVAIFHEALQATALRTLCTLGPNETAPFKPEGELHE
LSTRLLLHYSPQACKNNICLDLSPSHGLDGRLTGHRVETWDVKDVVNCVGGMGALLPLLE
RVAAQPKEAEAGPAETHDLVGPELTSGHNTQGLVLPLGKSSEERMERNAVAAFLLMLRNF
LQGHMVNQESLVQCQGPAIIGALLRKVPSWAMDMNVLMSAQLLMEQVAAEGSGPLLYLLY
QHLLFNFHLWTLSDFAVRLGHIQYMSSIVREHRQKLRKKYGVQFILDALRTHYSPQRERP
LAADDLRTVQTSLLGLAREFLVRSLSADDVQVTQTMLSFLAATGDDGQAVGALDLLLALL
HGSLVQESLAVFLLEPGNLEVLLALLVRPGSLPLLPDRVCKILRRLQQNERLPERSRQRL
RLRECGLQGLVACLPEGTVSPQLCQGLYKLFLGADCLNLSDLLAVVQLSLQADLSVRLDI
CRQLFHLIYGQPDVVRLLARQAGWQDVLTRLYVLEAATAGSPPPSSPESPTSPKPAPPKP
PTESPAEPSDVFLPSEAPCPDPDGFYHALSPFCTPFDLGLERSSVGSGNTAGGGGSSGTL
TPASQPGTPSPLDGPRPFPAAPGRHSSSLSNVLEDGSLPEPTISGDDTSNTSNPQQTSEE
ELCNLLTNVLFSVTWRGVEGSDEAAWRERGQVFSVLTQLGASATLVRPPDCIKRSLLEMM
LESALTDIKEAPVGVLASLTQQALWLLRLLQDFLCAEGHGNQELWSEKLFEGVCSLLDRL
GAWPHLANGTADLREMAQIGLRLVLGYILLEDPQLHAQAYVRLHMLLQTAVPARREEACY
VLSKLEAALGRVLNTSSLESATDEAGSPLAAAAAAAAAERCSWLVPLVRTLLDRAYEPLG
LQWGLPSLPPTNGSPTFFEDFQAFCATPEWRHFIDKQVQPTMSQFEMDTYAKSHDLMSGF
WNACYDMLMSSGQRRQWERAQSRRAFQELVLEPAQRRARLEGLRYTAVLKQQATQHSMAL
LHWGALWRQLASPCGAWALRDTPIPRWKLSSAETYSRMRLKLVPNHHFDPHLEASALRDN
LGEVPLTPTEEASLPLAVTKEAKVSTPPELLQEDQLGEDELAELETPMEAAELDEQREKL
VLSAECQLVTVVAVVPGLLEVTTQNVYFYDGSTERVETEEGIGYDFRRPLAQLREVHLRR
FNLRRSALELFFIDQANYFLNFPCKVGTTPVSSPSQTPRPQPGPIPPHTQVRNQVYSWLL
RLRPPSQGYLSSRSPQEMLRASGLTQKWVQREISNFEYLMQLNTIAGRTYNDLSQYPVFP
WVLQDYVSPTLDLSNPAVFRDLSKPIGVVNPKHAQLVREKYESFEDPAGTIDKFHYGTHY
SNAAGVMHYLIRVEPFTSLHVQLQSGRFDCSDRQFHSVAAAWQARLESPADVKELIPEFF
YFPDFLENQNGFDLGCLQLTNEKVGDVVLPPWASSPEDFIQQHRQALESEYVSAHLHEWI
DLIFGYKQRGPAAEEALNVFYYCTYEGAVDLDHVTDERERKALEGIISNFGQTPCQLLKE
PHPTRLSAEEAAHRLARLDTNSPSIFQHLDELKAFFAEVVSDGVPLVLALVPHRQPHSFI
TQGSPDLLVTVSASGLLGTHSWLPYDRNISNYFSFSKDPTMGSHKTQRLLSGPWVPGSGV
SGQALAVAPDGKLLFSGGHWDGSLRVTALPRGKLLSQLSCHLDVVTCLALDTCGIYLISG
SRDTTCMVWRLLHQGGLSVGLAPKPVQVLYGHGAAVSCVAISTELDMAVSGSEDGTVIIH
TVRRGQFVAALRPLGATFPGPIFHLALGSEGQIVVQSSAWERPGAQVTYSLHLYSVNGKL
RASLPLAEQPTALTVTEDFVLLGTAQCALHILQLNTLLPAAPPLPMKVAIRSVAVTKERS
HVLVGLEDGKLIVVVAGQPSEVRSSQFARKLWRSSRRISQVSSGETEYNPTEAR
NT seq 8265 nt   +upstreamnt  +downstreamnt
atggccgcctcggagcggctgtacgagttgtggctgctctactacgcgcagaaggacctg
ggttacctgcagcagtggctgaaggcctttgtaggtgccttcaagaagagcatctcactg
tcctctctggagccacgaaggccagaggaggcaggtgcagaggtcccgctgctaccactg
gatgagctgcatgtgctggccgaacagctgcaccaggctgacctggagcaagccctcctg
ctgctcaagctcttcatcattctctgcaggaacctggagaacatagaggcaggccggggc
caagtgctagtgccccgagtgctggcactgttgaccaagttggtggcggagctgaaagga
tgcccaccaccccagggccgaggcacgcagttggagaatgtggccctacatgctctgctt
ctctgcgagggcctctttgacccttaccaaacctggcggcgccagcgcagtggggaagtc
atcagctccaaggagaagagcaaatacaagttccctcctgctgctttgccccaggaattc
agcgccttcttccaagagagcctacagaatgcagaccacttgcctcccatactgctgtta
cgtctcatccacctcttctgcgccgtcctcgctggaggaaaggagaacgggcagatggct
gtaagtgatggctctgtgaagggcctgctgagtgtggtgcggggctggagccgtgggcca
gccccggacccgtgcctagtgccactggctctagaggcactggtaggtgcagtccatgtc
ttgcatgccagccgcgcacctcctcgtggcccagagcttcgtgccctgcttgagagctac
ttccatgtccttaatgctgactggccagctggtctgagctcaggccccgaagaggccctt
gtcaccctccgggtcagcatgctcgacgccatccccatgatgctggcatgtgaagaccgg
ccagtgctgcaagccaccttcctcagcaacaattgctttgaacacctcactcggctcatt
cagaacagcaagctgtacctgcagtcccgggcgccccccgagggggacagtgacctggct
acccggttactgactgagcccgatgtccaaaaggtcctggaccaagacacagacgccatt
gcagtccatgtagtcagagtgctgacctgcatcatgagtgactccccctcggccaaggag
gtgtttaaggagcgcatcggctaccctcacctgcaggaggttctgcagagccatggtccc
cccacccatcggctgttgcaagagctgctcaacatggctgtggagggtgaccacagcatg
tgcccacctccaccaatccgcaacgagcagccggtactggtgctggcgcagtggctgccg
tcattgcccaccgctgagctgcggctcttcctagcgcaacgcctcaggtggctctgtgac
agctgccctgccagccgtgccacctgtgtgcaggcaggcctggtgggctgcctgttggag
acactcagcacagggctagccctggaggcccgctgccaagagcagctgctggcactgcta
caagcactgggccgtgtatcaataaggcccatggagctgcgtcacctgctgcgcccccgg
ccaggattggactcggaaccaggcggagctgaggctggaaaggcccgacacgcaggtgct
gtcatccgcacattatcaggcatggccaggcaccagggtcctgcacgtgctctgcgctac
tttgacctcacgcccagcatggcgggcatcatggtaccccctgtacagcgatggccaggg
cctggcttcacctttcatgcctggctctgtctgcaccctatggatacagcacctacccct
gcccccacccgaccactccagcgaaagcagctgtacagcttctttaccagcagcggctca
gggtttgaggccttcttcacggcggccgggaccctggtggtggctgtgtgcacacggaag
gagtatttgaccatgagtttgcccgaagtgtcctttgccgactctgcctggcactgcgtg
gctatcgtccatgtgcctgggcgccggcccttcagccagaacctggtccatgtctacaaa
gacggccatctggtcaagacagcaccccttcgctgcccctccctcagtgagcctttctcc
tcctgctgtatcggctccgctggataccgcacaacgaccaccaccacagggctgcccaca
ccaccagtccccgccaccctggcctacactcaccccgccctcacccgctcccagtcagtc
ccagcctccacagggcttggctgggggtccgggctggtggcccccctgcaggagggcagc
atcgactctaccctcgcaggcacccaggacactcggtggggcagccccacatccctggag
ggtgagctgggggctgtggccatctttcacgaagccctgcaggcgacggctctgaggacc
ctgtgcaccctggggcccaatgagacggcacccttcaagcctgagggggagctgcatgag
ctcagcaccaggctgctcctccattactcacctcaggcttgtaagaacaacatctgcctg
gacctgtcccccagtcatgggcttgatgggcgcctgacgggccacagagtggagacctgg
gatgtgaaggatgtggtgaactgcgttgggggtatgggtgccctgctgcccctgctggag
cgagtagctgcacagcccaaagaggctgaagcaggtccagctgaaacgcatgacctcgtg
ggtcctgaactgacctctggtcacaacacccagggcctggttctcccattgggtaaatct
tcagaggaacggatggagaggaacgcagtggctgcttttctgctgatgctgcggaacttc
cttcagggtcacatggtgaaccaagagagcctggtgcagtgccaggggcctgccatcatc
ggggccctcctgcgaaaggtcccaagctgggccatggacatgaacgtgctcatgtccgcc
cagctgctgatggagcaggtggcagctgagggcagcgggcccctcctgtacctactctac
cagcatttgctcttcaactttcacctctggaccctcagtgacttcgccgtgcgcctcggt
cacatccagtacatgtccagcatagttcgggagcacagacagaagctgcggaagaagtac
ggcgtccagtttatcttggatgctctgcgcacccactacagcccgcagcgggagcgcccc
ctggctgctgacgacctacgcaccgtgcagacctccctcctgggcctggcgagggagttc
ctggtgcggagtctctcagcagatgacgtgcaggtcacgcagaccatgctgagctttttg
gcggccacaggcgatgacggtcaggcggtgggtgcgctggacctgctgctggccctgctg
cacggttccctggtgcaggagtccttggctgtctttctgttggagccagggaacctcgaa
gtgctactggccctgctagtgcggccagggtcactgcccctgctgcccgatcgagtctgc
aagatcctgcgcagactgcagcagaatgagcggctacctgagcggagccgccagcgcctc
cggctgcgggagtgtggtctccagggtctggttgcctgcttgcctgaggggactgtttcc
ccccagctctgccagggcctctacaagctgttcctgggggcagattgcctgaacctctca
gatctgctggctgtggtacagctgtccctccaggctgacctcagcgttcgcctagacatc
tgtcgccagcttttccacctcatctacggacagccagatgtagtgcggcttctggcccga
caggctggctggcaagatgtgctgacccggctatatgtcctggaggctgccacagccggc
agcccccctccgtcttccccagagtcacctacctcccccaagccagccccacccaagcca
cccactgagtcacctgctgagccttcagatgtcttcctgccctcagaggccccctgccct
gaccctgatggcttttaccatgctctctccccattctgcacgccctttgacctgggcctg
gaacggtctagtgtaggatcaggcaacactgctggtggtggcggcagcagtgggactctt
actccagccagccagcccggcactccttcgccactggatgggccgcggccctttcctgct
gctcctggccgccacagctccagtctctccaatgtgctggaggacggcagcctcccggag
cccaccattagcggggatgatacctcgaacaccagcaacccacagcaaacctctgaggaa
gagttgtgcaatctgctcaccaacgtgctgttctcggtgacgtggcgtggcgtggaaggc
agcgatgaggctgcctggcgggagcgtggccaggttttctcagtgctcacccagctgggg
gcctcagccacacttgtgcgcccaccagactgcatcaagcgcagcctcctggagatgatg
ctggagtcagccctgaccgacatcaaagaggcccccgtgggggtcctggccagcctcacc
cagcaagcgctttggctgctgcgtctgctgcaggacttcctgtgtgctgaaggccatggt
aaccaggaactgtggagtgagaagctctttgaaggtgtatgcagcctacttgatcgcctg
ggagcctggccccacctggccaacggcacagctgatctccgtgagatggcgcagattggc
ctacggcttgtacttggctacatcctgctggaagacccacagctgcatgcccaggcctac
gtgagattgcacatgctgctacagactgcagtgccagcccgccgcgaggaggcctgctat
gtgctctccaagctggaggctgcactggggcgggtgctgaacacctcttccttggagtca
gccactgatgaggcagggtccccacttgcagctgcagcagctgcagcagctgcagagcgc
tgctcctggctggtgccactggtgcgcacgctgctagaccgtgcctatgagccgctgggg
ctgcagtggggactgccctccctgccacccaccaatggcagccccaccttctttgaagac
ttccaggctttttgtgccacacccgaatggcgccacttcatcgacaaacaggtacagcca
accatgtcccagttcgaaatggacacgtatgctaagagccacgaccttatgtcaggtttc
tggaatgcctgctatgacatgcttatgagcagtgggcagcggcgccagtgggagcgcgcc
cagagtcgtcgggccttccaggagctggtgctggaacctgcgcagaggcgggcgcgcctg
gaggggctacgctacacggcagtgctgaagcagcaggcaacgcagcactccatggccctg
ctgcactggggggcgctgtggcgccagctcgccagcccatgtggggcctgggcgctgagg
gacactcccatcccccgctggaaactgtccagcgccgagacatattcacgcatgcgtctg
aagctggtgcccaaccatcacttcgaccctcacctggaagccagcgctctccgagacaat
ctgggtgaggttcccctgacacccaccgaggaggcctcactgcctctggcagtgaccaaa
gaggccaaagtgagcaccccacccgagttgctgcaggaggaccagctcggcgaggacgag
ctggctgagctggagaccccgatggaggcagcagaactggatgagcagcgtgagaagctg
gtgctgtcggccgagtgccagctggtgacggtagtggccgtggtcccagggctgctggag
gtcaccacacagaatgtatacttctacgatggcagcactgagcgcgtggaaaccgaggag
ggcatcggctatgatttccggcgcccactggcccagctgcgtgaggtccacctgcggcgt
ttcaacctgcgccgttcagcacttgagctcttctttatcgatcaggccaactacttcctc
aacttcccatgcaaggtgggcacgaccccagtctcatctcctagccagactcccagaccc
cagcctggccccatcccaccccatacccaggtacggaaccaggtgtactcgtggctcctg
cgcctacggcccccctctcaaggctacctaagcagccgctccccccaggagatgctgcgt
gcctcaggccttacccagaaatgggtacagcgtgagatatccaacttcgagtacttgatg
caactcaacaccattgcggggcggacctacaatgacctgtctcagtaccctgtgttcccc
tgggtcctgcaggactacgtgtccccaaccctggacctcagcaacccagccgtcttccgg
gacctgtctaagcccatcggtgtggtgaaccccaagcatgcccagctcgtgagggagaag
tatgaaagctttgaggacccagcagggaccattgacaagttccactatggcacccactac
tccaatgcagcaggcgtgatgcactacctcatccgcgtggagcccttcacctccctgcac
gtccagctgcaaagtggccgctttgactgctccgaccggcagttccactcggtggcggca
gcctggcaggcacgcctggagagccctgccgatgtgaaggagctcatcccggaattcttc
tactttcctgacttcctggagaaccagaacggttttgacctgggctgtctccagctgacc
aacgagaaggtaggcgatgtggtgctacccccgtgggccagctctcctgaggacttcatc
cagcagcaccgccaggctctggagtcggagtatgtgtctgcacacctacacgagtggatc
gacctcatctttggctacaagcagcgggggccagccgccgaggaggccctcaatgtcttc
tattactgcacctatgagggggctgtagacctggaccatgtgacagatgagcgggaacgg
aaggctctggagggcattatcagcaactttgggcagactccctgtcagctgctgaaggag
ccacatccaactcggctctcagctgaggaagcagcccatcgccttgcacgcctggacact
aactcacctagcatcttccagcacctggacgaactcaaggcattcttcgcagaggttgtc
agtgatggtgtacccctggtgctagccctggtcccccaccggcagccccactccttcatc
acccagggttccccagacctgttggtgactgtgagtgccagtgggctgctgggcacccac
agctggttgccctatgaccgcaacataagcaactacttcagcttcagcaaagaccccacc
atgggcagccacaagacgcagcgactgctgagtggcccgtgggtgccaggcagtggtgtg
agtggacaagcactggcagtggccccggatggaaagctgctattcagcggtggccactgg
gatggcagcctgcgggtgactgcactaccccgtggcaagctgttgagccagctcagctgc
caccttgatgtagtaacctgccttgcactggacacctgtggcatctacctcatctcaggc
tcccgggacaccacgtgcatggtgtggcggctcctgcatcagggtggtctgtcagtaggc
ctggcaccaaagcctgtgcaggtcctgtatgggcatggggctgcagtgagctgtgtggcc
atcagcactgaacttgacatggctgtgtctggatctgaggatggaactgtgatcatacac
actgtacgccgcggacagtttgtagcggcactacggcctctgggtgccacattccctgga
cctattttccacctggcattggggtccgaaggccagattgtggtacagagctcagcgtgg
gaacgtcctggggcccaggtcacctactccttgcacctgtattcagtcaatgggaagttg
cgggcttcactgcccctggcagagcagcctacagccctgacggtgacagaggactttgtg
ttgctgggcaccgcccagtgcgccctgcacatcctccaactaaacacactgctcccggcc
gcgcctcccttgcccatgaaggtggccatccgcagcgtggccgtgaccaaggagcgcagc
cacgtgctggtgggcctggaggatggcaagctcatcgtggtggtcgcggggcagccctct
gaggtgcgcagcagccagttcgcgcggaagctgtggcggtcctcgcggcgcatctcccag
gtgtcctcgggagagacggaatacaaccctactgaggcgcgctga

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (41)   
   KEGG ORTHOLOGY (1)   
   RefGene (34)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (1)   
   OC (1)   
Protein sequence (28)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (26)   
DNA sequence (50)   
   RefSeq(nuc) (26)   
   GenBank (12)   
   EMBL (12)   
Protein domain (8)   
   Pfam (8)   
All databases (133)   

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