Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	23218
Gene name Gene Name - the full gene name approved by the HGNC.	Neurobeachin like 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	NBEAL2
Synonyms (NCBI Gene) Gene synonyms aliases	BDPLT4, GPS
Disease Acronyms (UniProt) Disease acronyms from UniProt database	GPS
Chromosome Chromosome number	3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	3p21.31
Summary Summary of gene provided in NCBI Entrez Gene.	The protein encoded by this gene contains a beige and Chediak-Higashi (BEACH) domain and multiple WD40 domains, and may play a role in megakaryocyte alpha-granule biogenesis. Mutations in this gene are a cause of gray platelet syndrome. [provided by RefSe

Show/Hide all(25)

SNP ID	Visualize variation	Clinical significance	Consequence
rs144664865	G>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs201373710	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant, genic upstream transcript variant
rs372277612	C>G	Pathogenic	Stop gained, coding sequence variant, intron variant, non coding transcript variant, genic upstream transcript variant
rs377326649	G>A,C	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs387907112	C>T	Pathogenic	Genic upstream transcript variant, upstream transcript variant, coding sequence variant, non coding transcript variant, stop gained
rs387907113	T>C	Pathogenic	Genic upstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs387907114	A>T	Pathogenic	Genic upstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs387907115	C>T	Pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs557640338	->AGGT	Conflicting-interpretations-of-pathogenicity	Splice donor variant, intron variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs762258197	G>A	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant
rs794726682	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs794726683	->G	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs886041677	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1172581672	C>A,T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, synonymous variant, stop gained, genic upstream transcript variant
rs1235183015	T>-	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, non coding transcript variant
rs1349443190	T>G	Likely-pathogenic	Splice donor variant, upstream transcript variant, genic upstream transcript variant
rs1553659758	G>A	Pathogenic	Non coding transcript variant, stop gained, genic upstream transcript variant, coding sequence variant
rs1553663498	G>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1575592157	->A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, genic upstream transcript variant, frameshift variant, intron variant
rs1575602690	T>C	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs1575619957	G>A	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant, genic downstream transcript variant
rs1575623114	T>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs1575623184	T>C	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant, genic downstream transcript variant
rs1575628744	G>C	Likely-pathogenic	Intron variant, splice acceptor variant, genic downstream transcript variant
rs1575629721	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained, genic downstream transcript variant

Show/Hide all(47)

miRTarBase ID	miRNA	Experiments	Reference
MIRT048906	hsa-miR-93-5p	CLASH	23622248
MIRT1174758	hsa-miR-106a	CLIP-seq
MIRT1174759	hsa-miR-106b	CLIP-seq
MIRT1174760	hsa-miR-1207-5p	CLIP-seq
MIRT1174761	hsa-miR-125a-5p	CLIP-seq
MIRT1174762	hsa-miR-125b	CLIP-seq
MIRT1174763	hsa-miR-1285	CLIP-seq
MIRT1174764	hsa-miR-17	CLIP-seq
MIRT1174765	hsa-miR-19a	CLIP-seq
MIRT1174766	hsa-miR-19b	CLIP-seq
MIRT1174767	hsa-miR-20a	CLIP-seq
MIRT1174768	hsa-miR-20b	CLIP-seq
MIRT1174769	hsa-miR-296-5p	CLIP-seq
MIRT1174770	hsa-miR-302a	CLIP-seq
MIRT1174771	hsa-miR-302b	CLIP-seq
MIRT1174772	hsa-miR-302c	CLIP-seq
MIRT1174773	hsa-miR-302d	CLIP-seq
MIRT1174774	hsa-miR-302e	CLIP-seq
MIRT1174775	hsa-miR-3160-3p	CLIP-seq
MIRT1174776	hsa-miR-3187-5p	CLIP-seq
MIRT1174777	hsa-miR-372	CLIP-seq
MIRT1174778	hsa-miR-373	CLIP-seq
MIRT1174779	hsa-miR-4258	CLIP-seq
MIRT1174780	hsa-miR-4319	CLIP-seq
MIRT1174781	hsa-miR-4487	CLIP-seq
MIRT1174782	hsa-miR-4494	CLIP-seq
MIRT1174783	hsa-miR-4707-3p	CLIP-seq
MIRT1174784	hsa-miR-4732-3p	CLIP-seq
MIRT1174785	hsa-miR-4763-3p	CLIP-seq
MIRT1174786	hsa-miR-512-3p	CLIP-seq
MIRT1174787	hsa-miR-519d	CLIP-seq
MIRT1174788	hsa-miR-520a-3p	CLIP-seq
MIRT1174789	hsa-miR-520b	CLIP-seq
MIRT1174790	hsa-miR-520c-3p	CLIP-seq
MIRT1174791	hsa-miR-520d-3p	CLIP-seq
MIRT1174792	hsa-miR-520e	CLIP-seq
MIRT1174793	hsa-miR-541	CLIP-seq
MIRT1174794	hsa-miR-548t	CLIP-seq
MIRT1174795	hsa-miR-558	CLIP-seq
MIRT1174796	hsa-miR-612	CLIP-seq
MIRT1174797	hsa-miR-654-5p	CLIP-seq
MIRT1174798	hsa-miR-670	CLIP-seq
MIRT1174799	hsa-miR-671-5p	CLIP-seq
MIRT1174800	hsa-miR-890	CLIP-seq
MIRT1174801	hsa-miR-93	CLIP-seq
MIRT2279717	hsa-miR-3184	CLIP-seq
MIRT2279718	hsa-miR-423-5p	CLIP-seq

Show/Hide all(11)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	29187380
GO:0005783	Component	Endoplasmic reticulum	IDA	21765412
GO:0005829	Component	Cytosol	IBA	21873635
GO:0005886	Component	Plasma membrane	TAS
GO:0008104	Process	Protein localization	IBA	21873635
GO:0016020	Component	Membrane	IBA	21873635
GO:0019901	Function	Protein kinase binding	IBA	21873635
GO:0030220	Process	Platelet formation	IMP	21765411
GO:0043312	Process	Neutrophil degranulation	TAS
GO:0070821	Component	Tertiary granule membrane	TAS
GO:0101003	Component	Ficolin-1-rich granule membrane	TAS

MIM	HGNC	e!Ensembl
614169	31928	ENSG00000160796

Protein

UniProt ID

Q6ZNJ1

Protein name

Neurobeachin-like protein 2

Protein function

Probably involved in thrombopoiesis. Plays a role in the development or secretion of alpha-granules, that contain several growth factors important for platelet biogenesis.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF15787	DUF4704	872 → 1151	Domain of unknown function (DUF4704)	Family
PF16057	DUF4800	1587 → 1861		Family
PF14844	PH_BEACH	1926 → 2011	PH domain associated with Beige/BEACH	Domain
PF02138	Beach	2066 → 2345	Beige/BEACH domain	Family
PF00400	WD40	2492 → 2530	WD domain, G-beta repeat	Repeat
PF00400	WD40	2543 → 2580	WD domain, G-beta repeat	Repeat

Tissue specificity

TISSUE SPECIFICITY: Expressed in megakaryocytes. {ECO:0000269|PubMed:21765411}.

Sequence

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

Sequence length

2754

Interactions

View interactions

	Reactome
			Neutrophil degranulation

Show/Hide Causal Diseases (4)

Disease term	Disease name	dbSNP ID	References
Causal
Gray platelet syndrome	Gray Platelet Syndrome, Gray platelet syndrome	rs387907112, rs372277612, rs387907113, rs387907114, rs387907115, rs794726682, rs794726683, rs1553659758, rs1553663498, rs1575592157, rs1172581672, rs1235183015, rs1575619957, rs762258197, rs1575629721 View all (3 more)	23100277, 21765411, 21765413, 23861251, 20709904, 21765412, 26987485
Myelodysplasia	Myelodysplasia	rs141601766, rs1261178797
Myelodysplastic syndrome	MYELODYSPLASTIC SYNDROME	rs193303018, rs387906631, rs1576745225, rs373145711, rs752746786, rs377023736, rs373221034, rs1576749014, rs1600586587
Myelofibrosis	Primary Myelofibrosis	rs77375493, rs587776885, rs1555760738, rs146249964, rs755257605

Show/Hide Text Mining Associations (17)

Disease Name	Relationship Type	References
Associations from Text Mining
Autoimmune Diseases	Associate	37349339
Blast Crisis	Associate	33990592
Contusions	Associate	39465716
Genetic Diseases Inborn	Associate	23100277, 33990592
Gray Platelet Syndrome	Associate	21765412, 21765413, 23100277, 25806575, 26987485, 28082341, 28504079, 32384141, 32693407, 34237592, 37349339, 39465716
Hemorrhage	Associate	28504079, 37349339, 39465716
Hypogonadism	Associate	38107722
Inflammation	Associate	34315926
Keratoconus	Associate	33729517, 39238827
Laboratory Infection	Associate	23100277
Neoplasms	Associate	33110154
Neoplastic Syndromes Hereditary	Associate	34237177
Ovarian Neoplasms	Associate	23202957
Primary Myelofibrosis	Associate	28082341, 32693407
Splenomegaly	Associate	32693407
Thrombocytopenia	Associate	37349339
Thrombocytopenia 1	Associate	23100277

NBEAL2 (neurobeachin like 2)