NBEAL2
| NBEAL2 | |||||||||||||||||||||||||
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| Identifikatori | |||||||||||||||||||||||||
| Aliasi | NBEAL2 | ||||||||||||||||||||||||
| Vanjski ID-jevi | OMIM: 614169 MGI: 2448554 HomoloGene: 86422 GeneCards: NBEAL2 | ||||||||||||||||||||||||
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| Ortolozi | |||||||||||||||||||||||||
| Vrste | Čovjek | Miš | |||||||||||||||||||||||
| Entrez | |||||||||||||||||||||||||
| Ensembl | |||||||||||||||||||||||||
| UniProt | |||||||||||||||||||||||||
| RefSeq (mRNK) | |||||||||||||||||||||||||
| RefSeq (bjelančevina) | |||||||||||||||||||||||||
| Lokacija (UCSC) | Chr 3: 46.98 – 47.01 Mb | Chr 9: 110.45 – 110.48 Mb | |||||||||||||||||||||||
| PubMed pretraga | [3] | [4] | |||||||||||||||||||||||
| Wikipodaci | |||||||||||||||||||||||||
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Neurobeahinoliki protein 2 jest protein koji je kod ljudi kodiran genom NBEAL2 sa hromosoma 3.[5]
Aminokiselinska sekvenca
[uredi | uredi izvor]Dužina polipeptidnog lanca je 2 754 aminokiseline, а molekulska težina 302.517 Da.[6].
| 10 | 20 | 30 | 40 | 50 | ||||
|---|---|---|---|---|---|---|---|---|
| MAASERLYEL | WLLYYAQKDL | GYLQQWLKAF | VGAFKKSISL | SSLEPRRPEE | ||||
| AGAEVPLLPL | DELHVLAEQL | HQADLEQALL | LLKLFIILCR | NLENIEAGRG | ||||
| QVLVPRVLAL | LTKLVAELKG | CPPPQGRGTQ | LENVALHALL | LCEGLFDPYQ | ||||
| TWRRQRSGEV | ISSKEKSKYK | FPPAALPQEF | SAFFQESLQN | ADHLPPILLL | ||||
| RLIHLFCAVL | AGGKENGQMA | VSDGSVKGLL | SVVRGWSRGP | APDPCLVPLA | ||||
| LEALVGAVHV | LHASRAPPRG | PELRALLESY | FHVLNADWPA | GLSSGPEEAL | ||||
| VTLRVSMLDA | IPMMLACEDR | PVLQATFLSN | NCFEHLTRLI | QNSKLYLQSR | ||||
| APPEGDSDLA | TRLLTEPDVQ | KVLDQDTDAI | AVHVVRVLTC | IMSDSPSAKE | ||||
| VFKERIGYPH | LQEVLQSHGP | PTHRLLQELL | NMAVEGDHSM | CPPPPIRNEQ | ||||
| PVLVLAQWLP | SLPTAELRLF | LAQRLRWLCD | SCPASRATCV | QAGLVGCLLE | ||||
| TLSTGLALEA | RCQEQLLALL | QALGRVSIRP | MELRHLLRPR | PGLDSEPGGA | ||||
| EAGKARHAGA | VIRTLSGMAR | HQGPARALRY | FDLTPSMAGI | MVPPVQRWPG | ||||
| PGFTFHAWLC | LHPMDTAPTP | APTRPLQRKQ | LYSFFTSSGS | GFEAFFTAAG | ||||
| TLVVAVCTRK | EYLTMSLPEV | SFADSAWHCV | AIVHVPGRRP | FSQNLVHVYK | ||||
| DGHLVKTAPL | RCPSLSEPFS | SCCIGSAGYR | TTTTTTGLPT | PPVPATLAYT | ||||
| HPALTRSQSV | PASTGLGWGS | GLVAPLQEGS | IDSTLAGTQD | TRWGSPTSLE | ||||
| GELGAVAIFH | EALQATALRT | LCTLGPNETA | PFKPEGELHE | LSTRLLLHYS | ||||
| PQACKNNICL | DLSPSHGLDG | RLTGHRVETW | DVKDVVNCVG | GMGALLPLLE | ||||
| RVAAQPKEAE | AGPAETHDLV | GPELTSGHNT | QGLVLPLGKS | SEERMERNAV | ||||
| AAFLLMLRNF | LQGHMVNQES | LVQCQGPAII | GALLRKVPSW | AMDMNVLMSA | ||||
| QLLMEQVAAE | GSGPLLYLLY | QHLLFNFHLW | TLSDFAVRLG | HIQYMSSIVR | ||||
| EHRQKLRKKY | GVQFILDALR | THYSPQRERP | LAADDLRTVQ | TSLLGLAREF | ||||
| LVRSLSADDV | QVTQTMLSFL | AATGDDGQAV | GALDLLLALL | HGSLVQESLA | ||||
| VFLLEPGNLE | VLLALLVRPG | SLPLLPDRVC | KILRRLQQNE | RLPERSRQRL | ||||
| RLRECGLQGL | VACLPEGTVS | PQLCQGLYKL | FLGADCLNLS | DLLAVVQLSL | ||||
| QADLSVRLDI | CRQLFHLIYG | QPDVVRLLAR | QAGWQDVLTR | LYVLEAATAG | ||||
| SPPPSSPESP | TSPKPAPPKP | PTESPAEPSD | VFLPSEAPCP | DPDGFYHALS | ||||
| PFCTPFDLGL | ERSSVGSGNT | AGGGGSSGTL | TPASQPGTPS | PLDGPRPFPA | ||||
| APGRHSSSLS | NVLEDGSLPE | PTISGDDTSN | TSNPQQTSEE | ELCNLLTNVL | ||||
| FSVTWRGVEG | SDEAAWRERG | QVFSVLTQLG | ASATLVRPPD | CIKRSLLEMM | ||||
| LESALTDIKE | APVGVLASLT | QQALWLLRLL | QDFLCAEGHG | NQELWSEKLF | ||||
| EGVCSLLDRL | GAWPHLANGT | ADLREMAQIG | LRLVLGYILL | EDPQLHAQAY | ||||
| VRLHMLLQTA | VPARREEACY | VLSKLEAALG | RVLNTSSLES | ATDEAGSPLA | ||||
| AAAAAAAAER | CSWLVPLVRT | LLDRAYEPLG | LQWGLPSLPP | TNGSPTFFED | ||||
| FQAFCATPEW | RHFIDKQVQP | TMSQFEMDTY | AKSHDLMSGF | WNACYDMLMS | ||||
| SGQRRQWERA | QSRRAFQELV | LEPAQRRARL | EGLRYTAVLK | QQATQHSMAL | ||||
| LHWGALWRQL | ASPCGAWALR | DTPIPRWKLS | SAETYSRMRL | KLVPNHHFDP | ||||
| HLEASALRDN | LGEVPLTPTE | EASLPLAVTK | EAKVSTPPEL | LQEDQLGEDE | ||||
| LAELETPMEA | AELDEQREKL | VLSAECQLVT | VVAVVPGLLE | VTTQNVYFYD | ||||
| GSTERVETEE | GIGYDFRRPL | AQLREVHLRR | FNLRRSALEL | FFIDQANYFL | ||||
| NFPCKVGTTP | VSSPSQTPRP | QPGPIPPHTQ | VRNQVYSWLL | RLRPPSQGYL | ||||
| SSRSPQEMLR | ASGLTQKWVQ | REISNFEYLM | QLNTIAGRTY | NDLSQYPVFP | ||||
| WVLQDYVSPT | LDLSNPAVFR | DLSKPIGVVN | PKHAQLVREK | YESFEDPAGT | ||||
| IDKFHYGTHY | SNAAGVMHYL | IRVEPFTSLH | VQLQSGRFDC | SDRQFHSVAA | ||||
| AWQARLESPA | DVKELIPEFF | YFPDFLENQN | GFDLGCLQLT | NEKVGDVVLP | ||||
| PWASSPEDFI | QQHRQALESE | YVSAHLHEWI | DLIFGYKQRG | PAAEEALNVF | ||||
| YYCTYEGAVD | LDHVTDERER | KALEGIISNF | GQTPCQLLKE | PHPTRLSAEE | ||||
| AAHRLARLDT | NSPSIFQHLD | ELKAFFAEVV | SDGVPLVLAL | VPHRQPHSFI | ||||
| TQGSPDLLVT | VSASGLLGTH | SWLPYDRNIS | NYFSFSKDPT | MGSHKTQRLL | ||||
| SGPWVPGSGV | SGQALAVAPD | GKLLFSGGHW | DGSLRVTALP | RGKLLSQLSC | ||||
| HLDVVTCLAL | DTCGIYLISG | SRDTTCMVWR | LLHQGGLSVG | LAPKPVQVLY | ||||
| GHGAAVSCVA | ISTELDMAVS | GSEDGTVIIH | TVRRGQFVAA | LRPLGATFPG | ||||
| PIFHLALGSE | GQIVVQSSAW | ERPGAQVTYS | LHLYSVNGKL | RASLPLAEQP | ||||
| TALTVTEDFV | LLGTAQCALH | ILQLNTLLPA | APPLPMKVAI | RSVAVTKERS | ||||
| HVLVGLEDGK | LIVVVAGQPS | EVRSSQFARK | LWRSSRRISQ | VSSGETEYNP | ||||
| TEAR |
Funkcija
[uredi | uredi izvor]Protein kodiran ovim genom sadrži bež i Chediak-Higashijev (BEACH) domen i više WD40 domena, a može imati ulogu u biogenezi megakariocita alfa-granula.[5]
Klinički značaj
[uredi | uredi izvor]Pokazalo se da mutacija ovog gena uzrokuje sindrom sivih trombocita.[7]
Reference
[uredi | uredi izvor]- ^ a b c GRCh38: Ensembl release 89: ENSG00000160796 - Ensembl, maj 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000056724 - Ensembl, maj 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ a b "Entrez Gene: Neurobeachin-like 2". Pristupljeno 30. 12. 2011.
- ^ "UniProt, Q6ZNJ1" (jezik: engleski). Pristupljeno 4. 11. 2021.
- ^ Albers CA, Cvejic A, Favier R, Bouwmans EE, Alessi MC, Bertone P, Jordan G, Kettleborough RN, Kiddle G, Kostadima M, Read RJ, Sipos B, Sivapalaratnam S, Smethurst PA, Stephens J, Voss K, Nurden A, Rendon A, Nurden P, Ouwehand WH (august 2011). "Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome". Nat. Genet. 43 (8): 735–7. doi:10.1038/ng.885. PMC 3428934. PMID 21765411.
Further reading
[uredi | uredi izvor]- So, H. C.; Fong, P. Y.; Chen, R. Y. L.; Hui, T. C. K.; Ng, M. Y. M.; Cherny, S. S.; Mak, W. W. M.; Cheung, E. F. C.; Chan, R. C. K.; Chen, E. Y. H.; Li, T.; Sham, P. C. (2009). "Identification of neuroglycan C and interacting partners as potential susceptibility genes for schizophrenia in a Southern Chinese population". American Journal of Medical Genetics Part B. 153B (1): 103–113. doi:10.1002/ajmg.b.30961. PMID 19367581. S2CID 20522961.
- Albers, C. A.; Cvejic, A.; Favier, R. M.; Bouwmans, E. E.; Alessi, M. C.; Bertone, P.; Jordan, G.; Kettleborough, R. N. W.; Kiddle, G.; Kostadima, M.; Read, R. J.; Sipos, B.; Sivapalaratnam, S.; Smethurst, P. A.; Stephens, J.; Voss, K.; Nurden, A.; Rendon, A.; Nurden, P.; Ouwehand, W. H. (2011). "Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome". Nature Genetics. 43 (8): 735–737. doi:10.1038/ng.885. PMC 3428934. PMID 21765411.
Ovaj članak uključuje tekst iz Nacionalne medicinske biblioteke Sjedinjenih Država, koji je u javnom vlasništvu.