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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	23218
Gene name	Neurobeachin like 2
Gene symbol	NBEAL2
Synonyms (NCBI Gene)	BDPLT4GPS
Chromosome	3
Chromosome location	3p21.31
Summary	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 (13)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	29187380
GO:0005783	Component	Endoplasmic reticulum	IDA	21765412
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005886	Component	Plasma membrane	TAS
GO:0008104	Process	Intracellular protein localization	IBA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IBA
GO:0019901	Function	Protein kinase binding	IBA
GO:0030099	Process	Myeloid cell differentiation	IEA
GO:0030220	Process	Platelet formation	IMP	21765411
GO:0070821	Component	Tertiary granule membrane	TAS
GO:0101003	Component	Ficolin-1-rich granule membrane	TAS

MIM	HGNC	e!Ensembl
614169	31928	ENSG00000160796

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

385

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal bleeding	Pathogenic	rs1285731171	RCV001270512
Gray platelet syndrome	Likely pathogenic; Pathogenic	rs2107453711, rs2107416290, rs2107346255, rs2107445568, rs2107337553, rs2107448208, rs948953674, rs2107437335, rs1339171276, rs2107416663, rs1341020147, rs2107413869, rs2037415464, rs1233482159, rs2545337256 View all (33 more)	RCV001543680 RCV001731122 RCV001823792 RCV002245440 RCV002245443 RCV002245446 RCV002245447 RCV002245448 RCV002245449 RCV002245450 RCV002245451 RCV002245452 RCV002280941 RCV002284154 RCV003151928 RCV003226077 RCV003447781 RCV003990414 RCV000024112 RCV000024113 RCV000024114 RCV000024115 RCV000024116 RCV000024117 RCV000024118 RCV000503824 RCV000500436 RCV000852171 RCV000852052 RCV000852062 RCV000851830 RCV000851838 RCV000852204 RCV000991418 RCV001003898 RCV001003899 RCV001261917 RCV001261897 RCV001261913 RCV001261899 RCV001261909 RCV001261904 RCV001261901 RCV001261907 RCV001261916 RCV001261906 RCV001261903 RCV001261905
Malignant tumor of urinary bladder	Pathogenic	rs1349443190	RCV005912364
NBEAL2-related disorder	Likely pathogenic; Pathogenic	rs2545271813, rs2545341177, rs1553663498	RCV003406108 RCV003419135 RCV003403169
Pancreatic adenocarcinoma	Likely pathogenic; Pathogenic	rs763842878	RCV005909283
Thrombocytopenia	Pathogenic	rs1285731171	RCV001270512

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Likely benign; Conflicting classifications of pathogenicity	rs200904954, rs370559049	RCV005930808 RCV005906822
Colon adenocarcinoma	Conflicting classifications of pathogenicity	rs370559049	RCV005906821
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	rs886058597	RCV004557829
Keratoconus	Uncertain significance	rs2545343689	RCV003156155
Malignant lymphoma, large B-cell, diffuse	Benign	rs56217494	RCV005925331
Malignant tumor of esophagus	Conflicting classifications of pathogenicity	rs370559049	RCV005906823
Ovarian cancer	Conflicting classifications of pathogenicity	rs370559049	RCV005906824
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	rs370559049	RCV005906827
Sarcoma	Conflicting classifications of pathogenicity	rs370559049	RCV005906826
Uveal melanoma	Conflicting classifications of pathogenicity	rs370559049	RCV005906825

Show/Hide Text Mining Associations (17)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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)