Homo sapiens (human): 23218
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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)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
Beach
DUF4800
NBCH_WD40
DUF4704
WD40
PH_BEACH
Neurobeachin
WD40_Prp19
WD40_WDHD1_1st
Beta-prop_EML_2
Beta-prop_TEP1_2nd
WD40_CDC20-Fz
Beta-prop_IFT122_1st
Beta-prop_DCAF12
Beta-prop_CAF1B_HIR1
WD40_MABP1-WDR62_2nd
Laminin_G_3
Motif
Other DBs
NCBI-GeneID:
23218
NCBI-ProteinID:
NP_055990
OMIM:
614169
HGNC:
31928
Ensembl:
ENSG00000160796
UniProt:
Q6ZNJ1
LinkDB
All DBs
Position
3:46979666..47009701
Genome browser
AA seq
2754 aa
AA seq
DB search
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
NT seq
+upstream
nt +downstream
nt
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
DBGET
integrated database retrieval system
