NBEAL2

Neurobeahinoliki protein 2 jest protein koji je kod ljudi kodiran genom NBEAL2 sa hromosoma 3.^[5]

NBEAL2
Identifikatori
Aliasi	NBEAL2
Vanjski ID-jevi	OMIM: 614169 MGI: 2448554 HomoloGene: 86422 GeneCards: NBEAL2
Lokacija gena (čovjek) Hrom. Hromosom 3 (čovjek)[1] Bend 3p21.31 Početak 46,979,666 bp[1] Kraj 47,009,704 bp[1]
Lokacija gena (miš) Hrom. Hromosom 9 (miš)[2] Bend 9|9 F2 Početak 110,453,857 bp[2] Kraj 110,483,229 bp[2]
Ontologija gena Molekularna funkcija • phospholipid binding • GO:0001948, GO:0016582 vezivanje za proteine Ćelijska komponenta • Endoplazmatski retikulum • membrana • ćelijska membrana • tertiary granule membrane • ficolin-1-rich granule membrane Biološki proces • platelet formation • neutrophil degranulation Izvori:Amigo / QuickGO
Ortolozi
Vrste	Čovjek	Miš
Entrez	23218	235627
Ensembl	ENSG00000160796	ENSMUSG00000056724
UniProt	Q6ZNJ1	Q6ZQA0
RefSeq (mRNK)	NM_015175 NM_001365116	NM_183276
RefSeq (bjelančevina)	NP_055990 NP_001352045	NP_899099
Lokacija (UCSC)	Chr 3: 46.98 – 47.01 Mb	Chr 9: 110.45 – 110.48 Mb
PubMed pretraga	[3]	[4]
Wikipodaci
Pogledaj/uredi – čovjek Pogledaj/uredi – miš

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 2 754 aminokiseline, а molekulska težina 302.517 Da.^[6].

• C: Cistein
• D: Asparaginska kiselina
• E: Glutaminska kiselina
• F: Fenilalanin
• G: Glicin
• H: Histidin
• I: Izoleucin
• K: Lizin
• L: Leucin
• M: Metionin
• N: Asparagin
• P: Prolin
• Q: Glutamin
• R: Arginin
• S: Serin
• T: Treonin
• V: Valin
• W: Triptofan
• Y: Tirozin

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

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

Pokazalo se da mutacija ovog gena uzrokuje sindrom sivih trombocita.^[7]

Reference

1. GRCh38: Ensembl release 89: ENSG00000160796 - Ensembl, maj 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000056724 - Ensembl, maj 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: Neurobeachin-like 2". Pristupljeno 30. 12. 2011.
6. "UniProt, Q6ZNJ1" (jezik: engleski). Pristupljeno 4. 11. 2021.
7. 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

• 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.

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