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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	26960
Gene name Gene Name - the full gene name approved by the HGNC.	Neurobeachin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	NBEA
Synonyms (NCBI Gene) Gene synonyms aliases	BCL8B, LYST2, NEDEGE
Chromosome Chromosome number	13
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	13q13.3
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a member of a large, diverse group of A-kinase anchor proteins that target the activity of protein kinase A to specific subcellular sites by binding to its type II regulatory subunits. Brain-specific expression and coat protein-like memb

Show/Hide all(3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs869312667	C>T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs878853169	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1594162606	G>A	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant

Show/Hide all(113)

miRTarBase ID	miRNA	Experiments	Reference
MIRT016246	hsa-miR-548b-3p	Sequencing	20371350
MIRT016751	hsa-miR-335-5p	Microarray	18185580
MIRT021372	hsa-miR-9-5p	Microarray	17612493
MIRT021882	hsa-miR-128-3p	Microarray	17612493
MIRT030706	hsa-miR-21-5p	Microarray	18591254
MIRT050693	hsa-miR-18a-5p	CLASH	23622248
MIRT036648	hsa-miR-935	CLASH	23622248
MIRT440143	hsa-miR-409-5p	HITS-CLIP	24374217
MIRT440141	hsa-miR-127-3p	HITS-CLIP	24374217
MIRT440140	hsa-miR-485-3p	HITS-CLIP	24374217
MIRT440139	hsa-miR-377-3p	HITS-CLIP	24374217
MIRT440143	hsa-miR-409-5p	HITS-CLIP	24374217
MIRT440141	hsa-miR-127-3p	HITS-CLIP	24374217
MIRT440140	hsa-miR-485-3p	HITS-CLIP	24374217
MIRT440139	hsa-miR-377-3p	HITS-CLIP	24374217
MIRT1174728	hsa-miR-1	CLIP-seq
MIRT1174729	hsa-miR-137	CLIP-seq
MIRT1174730	hsa-miR-1909	CLIP-seq
MIRT1174731	hsa-miR-206	CLIP-seq
MIRT1174732	hsa-miR-3134	CLIP-seq
MIRT1174733	hsa-miR-3668	CLIP-seq
MIRT1174734	hsa-miR-3671	CLIP-seq
MIRT1174735	hsa-miR-3673	CLIP-seq
MIRT1174736	hsa-miR-3943	CLIP-seq
MIRT1174737	hsa-miR-4313	CLIP-seq
MIRT1174738	hsa-miR-4455	CLIP-seq
MIRT1174739	hsa-miR-4534	CLIP-seq
MIRT1174740	hsa-miR-4711-3p	CLIP-seq
MIRT1174741	hsa-miR-4731-5p	CLIP-seq
MIRT1174742	hsa-miR-491-3p	CLIP-seq
MIRT1174743	hsa-miR-544	CLIP-seq
MIRT1174744	hsa-miR-607	CLIP-seq
MIRT1174745	hsa-miR-609	CLIP-seq
MIRT1174746	hsa-miR-613	CLIP-seq
MIRT1174747	hsa-miR-129-5p	CLIP-seq
MIRT1174748	hsa-miR-342-3p	CLIP-seq
MIRT1174749	hsa-miR-377	CLIP-seq
MIRT2050548	hsa-miR-1273e	CLIP-seq
MIRT2050549	hsa-miR-4666-5p	CLIP-seq
MIRT2050550	hsa-miR-624	CLIP-seq
MIRT2279712	hsa-miR-197	CLIP-seq
MIRT2279713	hsa-miR-4695-3p	CLIP-seq
MIRT2279714	hsa-miR-5096	CLIP-seq
MIRT2279715	hsa-miR-513c	CLIP-seq
MIRT2279716	hsa-miR-514b-5p	CLIP-seq
MIRT2431500	hsa-miR-338-5p	CLIP-seq
MIRT2279715	hsa-miR-513c	CLIP-seq
MIRT2279716	hsa-miR-514b-5p	CLIP-seq
MIRT2431501	hsa-miR-642b	CLIP-seq
MIRT2431500	hsa-miR-338-5p	CLIP-seq
MIRT2438861	hsa-miR-4757-3p	CLIP-seq
MIRT2465692	hsa-miR-4433	CLIP-seq
MIRT2050548	hsa-miR-1273e	CLIP-seq
MIRT2279712	hsa-miR-197	CLIP-seq
MIRT2578304	hsa-miR-21	CLIP-seq
MIRT2578305	hsa-miR-300	CLIP-seq
MIRT2578306	hsa-miR-3126-3p	CLIP-seq
MIRT2578307	hsa-miR-3128	CLIP-seq
MIRT2578308	hsa-miR-3185	CLIP-seq
MIRT2578309	hsa-miR-331-3p	CLIP-seq
MIRT2431500	hsa-miR-338-5p	CLIP-seq
MIRT1174749	hsa-miR-377	CLIP-seq
MIRT2578310	hsa-miR-381	CLIP-seq
MIRT2578311	hsa-miR-383	CLIP-seq
MIRT2578312	hsa-miR-4292	CLIP-seq
MIRT1174738	hsa-miR-4455	CLIP-seq
MIRT2578313	hsa-miR-4477b	CLIP-seq
MIRT2578314	hsa-miR-450b-5p	CLIP-seq
MIRT2578315	hsa-miR-4666-3p	CLIP-seq
MIRT2050549	hsa-miR-4666-5p	CLIP-seq
MIRT2279713	hsa-miR-4695-3p	CLIP-seq
MIRT2578316	hsa-miR-4704-3p	CLIP-seq
MIRT2578317	hsa-miR-4720-3p	CLIP-seq
MIRT2578318	hsa-miR-4720-5p	CLIP-seq
MIRT2438861	hsa-miR-4757-3p	CLIP-seq
MIRT2578319	hsa-miR-4760-3p	CLIP-seq
MIRT2578320	hsa-miR-4772-5p	CLIP-seq
MIRT2578321	hsa-miR-4799-3p	CLIP-seq
MIRT2578322	hsa-miR-494	CLIP-seq
MIRT2279714	hsa-miR-5096	CLIP-seq
MIRT2279715	hsa-miR-513c	CLIP-seq
MIRT2279716	hsa-miR-514b-5p	CLIP-seq
MIRT2578323	hsa-miR-520d-5p	CLIP-seq
MIRT2578324	hsa-miR-524-5p	CLIP-seq
MIRT2578325	hsa-miR-568	CLIP-seq
MIRT2578326	hsa-miR-590-5p	CLIP-seq
MIRT1174745	hsa-miR-609	CLIP-seq
MIRT2431501	hsa-miR-642b	CLIP-seq
MIRT2578305	hsa-miR-300	CLIP-seq
MIRT2685854	hsa-miR-3148	CLIP-seq
MIRT2578308	hsa-miR-3185	CLIP-seq
MIRT2578309	hsa-miR-331-3p	CLIP-seq
MIRT2431500	hsa-miR-338-5p	CLIP-seq
MIRT2685855	hsa-miR-3688-3p	CLIP-seq
MIRT2578310	hsa-miR-381	CLIP-seq
MIRT2578311	hsa-miR-383	CLIP-seq
MIRT2578312	hsa-miR-4292	CLIP-seq
MIRT1174738	hsa-miR-4455	CLIP-seq
MIRT2578315	hsa-miR-4666-3p	CLIP-seq
MIRT2050549	hsa-miR-4666-5p	CLIP-seq
MIRT2578316	hsa-miR-4704-3p	CLIP-seq
MIRT2438861	hsa-miR-4757-3p	CLIP-seq
MIRT2578319	hsa-miR-4760-3p	CLIP-seq
MIRT2578320	hsa-miR-4772-5p	CLIP-seq
MIRT2578322	hsa-miR-494	CLIP-seq
MIRT2279715	hsa-miR-513c	CLIP-seq
MIRT2279716	hsa-miR-514b-5p	CLIP-seq
MIRT2578323	hsa-miR-520d-5p	CLIP-seq
MIRT2578324	hsa-miR-524-5p	CLIP-seq
MIRT2578325	hsa-miR-568	CLIP-seq
MIRT2685856	hsa-miR-579	CLIP-seq
MIRT1174745	hsa-miR-609	CLIP-seq
MIRT2431501	hsa-miR-642b	CLIP-seq

Show/Hide all(10)

GO ID	Ontology	Definition	Evidence
GO:0005737	Component	Cytoplasm	IEA
GO:0005802	Component	Trans-Golgi network	ISS
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	ISS
GO:0005886	Component	Plasma membrane	ISS
GO:0008104	Process	Intracellular protein localization	IBA
GO:0012505	Component	Endomembrane system	ISS
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0019901	Function	Protein kinase binding	IBA

MIM	HGNC	e!Ensembl
604889	7648	ENSG00000172915

Protein

UniProt ID

Q8NFP9

Protein name

Neurobeachin (Lysosomal-trafficking regulator 2) (Protein BCL8B)

Protein function

Binds to type II regulatory subunits of protein kinase A and anchors/targets them to the membrane. May anchor the kinase to cytoskeletal and/or organelle-associated proteins (By similarity).

PDB

1MI1

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13385	Laminin_G_3	238 → 403		Domain
PF15787	DUF4704	472 → 743	Domain of unknown function (DUF4704)	Family
PF06469	DUF1088	1966 → 2132	Domain of Unknown Function (DUF1088)	Family
PF14844	PH_BEACH	2158 → 2255	PH domain associated with Beige/BEACH	Domain
PF02138	Beach	2287 → 2563	Beige/BEACH domain	Family

Tissue specificity

TISSUE SPECIFICITY: Predominant in many brain structures. Also expressed at medium levels in spleen, thymus, prostate, testis and ovary. Low level expression is seen in heart, kidney, pancreas, skeletal muscle and intestine. {ECO:0000269|PubMed:12160729}.

Sequence

MASEKPGPGPGLEPQPVGLIAVGAAGGGGGGSGGGGTGGSGMGELRGASGSGSVMLPAGM
INPSVPIRNIRMKFAVLIGLIQVGEVSNRDIVETVLNLLVGGEFDLEMNFIIQDAESITC
MTELLEHCDVTCQAEIWSMFTAILRKSVRNLQTSTEVGLIEQVLLKMSAVDDMIADLLVD
MLGVLASYSITVKELKLLFSMLRGESGIWPRHAVKLLSVLNQMPQRHGPDTFFNFPGCSA
AAIALPPIAKWPYQNGFTLNTWFRMDPLNNINVDKDKPYLYCFRTSKGVGYSAHFVGNCL
IVTSLKSKGKGFQHCVKYDFQPRKWYMISIVHIYNRWRNSEIRCYVNGQLVSYGDMAWHV
NTNDSYDKCFLGSSETADANRVFCGQLGAVYVFSEALNPAQIFAIHQLGPGYKSTFKFKS
ESDIHLAEHHKQVLYDGKLASSIAFTYNAKATDAQLCLESSPKENASIFVHSPHALMLQD
VKAIVTHSIHSAIHSIGGIQVLFPLFAQLDNRQLNDSQVETTVCATLLAFLVELLKSSVA
MQEQMLGGKGFLVIGYLLEKSSRVHITRAVLEQFLSFAKYLDGLSHGAPLLKQLCDHILF
NPAIWIHTPAKVQLSLYTYLSAEFIGTATIYTTIRRVGTVLQLMHTLKYYYWVINPADSS
GITPKGLDGPRPSQKEIISLRAFMLLFLKQLILKDRGVKEDELQSILNYLLTMHEDENIH
DVLQLLVALMSEHPASMIPAFDQRNGIRVIYKLLASKSESIWVQALKVLGYFLKHLGHKR
KVEIMHTHSLFTLLGERLMLHTNTVTVTTYNTLYEILTEQVCTQVVHKPHPEPDSTVKIQ
NPMILKVVATLLKNSTPSAELMEVRRLFLSDMIKLFSNSRENRRCLLQCSVWQDWMFSLG
YINPKNSEEQKITEMVYNIFRILLYHAIKYEWGGWRVWVDTLSIAHSKVTYEAHKEYLAK
MYEEYQRQEEENIKKGKKGNVSTISGLSSQTTGAKGGMEIREIEDLSQSQSPESETDYPV
STDTRDLLMSTKVSDDILGNSDRPGSGVHVEVHDLLVDIKAEKVEATEVKLDDMDLSPET
LVGGENGALVEVESLLDNVYSAAVEKLQNNVHGSVGIIKKNEEKDNGPLITLADEKEDLP
NSSTSFLFDKIPKQEEKLLPELSSNHIIPNIQDTQVHLGVSDDLGLLAHMTGSVDLTCTS
SIIEEKEFKIHTTSDGMSSISERDLASSTKGLEYAEMTATTLETESSSSKIVPNIDAGSI
ISDTERSDDGKESGKEIRKIQTTTTTQAVQGRSITQQDRDLRVDLGFRGMPMTEEQRRQF
SPGPRTTMFRIPEFKWSPMHQRLLTDLLFALETDVHVWRSHSTKSVMDFVNSNENIIFVH
NTIHLISQMVDNIIIACGGILPLLSAATSPTGSKTELENIEVTQGMSAETAVTFLSRLMA
MVDVLVFASSLNFSEIEAEKNMSSGGLMRQCLRLVCCVAVRNCLECRQRQRDRGNKSSHG
SSKPQEVPQSVTATAASKTPLENVPGNLSPIKDPDRLLQDVDINRLRAVVFRDVDDSKQA
QFLALAVVYFISVLMVSKYRDILEPQRETTRTGSQPGRNIRQEINSPTSTVVVIPSIPHP
SLNHGFLAKLIPEQSFGHSFYKETPAAFPDTIKEKETPTPGEDIQVESSIPHTDSGIGEE
QVASILNGAELETSTGPDAMSELLSTLSSEVKKSQESLTENPSETLKPATSISSISQTKG
INVKEILKSLVAAPVEIAECGPEPIPYPDPALKRETQAILPMQFHSFDRSVVVPVKKPPP
GSLAVTTVGATTAGSGLPTGSTSNIFAATGATPKSMINTTGAVDSGSSSSSSSSSFVNGA
TSKNLPAVQTVAPMPEDSAENMSITAKLERALEKVAPLLREIFVDFAPFLSRTLLGSHGQ
ELLIEGLVCMKSSTSVVELVMLLCSQEWQNSIQKNAGLAFIELINEGRLLCHAMKDHIVR
VANEAEFILNRQRAEDVHKHAEFESQCAQYAADRREEEKMCDHLISAAKHRDHVTANQLK
QKILNILTNKHGAWGAVSHSQLHDFWRLDYWEDDLRRRRRFVRNAFGSTHAEALLKAAIE
YGTEEDVVKSKKTFRSQAIVNQNAETELMLEGDDDAVSLLQEKEIDNLAGPVVLSTPAQL
IAPVVVAKGTLSITTTEIYFEVDEDDSAFKKIDTKVLAYTEGLHGKWMFSEIRAVFSRRY
LLQNTALEVFMANRTSVMFNFPDQATVKKVVYSLPRVGVGTSYGLPQARRISLATPRQLY
KSSNMTQRWQRREISNFEYLMFLNTIAGRTYNDLNQYPVFPWVLTNYESEELDLTLPGNF
RDLSKPIGALNPKRAVFYAERYETWEDDQSPPYHYNTHYSTATSTLSWLVRIEPFTTFFL
NANDGKFDHPDRTFSSVARSWRTSQRDTSDVKELIPEFYYLPEMFVNSNGYNLGVREDEV
VVNDVDLPPWAKKPEDFVRINRMALESEFVSCQLHQWIDLIFGYKQRGPEAVRALNVFHY
LTYEGSVNLDSITDPVLREAMEAQIQNFGQTPSQLLIEPHPPRSSAMHLCFLPQSPLMFK
DQMQQDVIMVLKFPSNSPVTHVAANTLPHLTIPAVVTVTCSRLFAVNRWHNTVGLRGAPG
YSLDQAHHLPIEMDPLIANNSGVNKRQITDLVDQSIQINAHCFVVTADNRYILICGFWDK
SFRVYSTETGKLTQIVFGHWDVVTCLARSESYIGGDCYIVSGSRDATLLLWYWSGRHHII
GDNPNSSDYPAPRAVLTGHDHEVVCVSVCAELGLVISGAKEGPCLVHTITGDLLRALEGP
ENCLFPRLISVSSEGHCIIYYERGRFSNFSINGKLLAQMEINDSTRAILLSSDGQNLVTG
GDNGVVEVWQACDFKQLYIYPGCDAGIRAMDLSHDQRTLITGMASGSIVAFNIDFNRWHY
EHQNRY

Sequence length

2946

Interactions

View interactions

Show/Hide Unknown Diseases (4)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Diverticulitis	Diverticulitis	N/A	N/A	GWAS
Mental retardation	syndromic intellectual disability	N/A	N/A	GenCC
Migraine with Aura	Migraine with aura	N/A	N/A	GWAS
Neurodevelopmental Disorders	complex neurodevelopmental disorder	N/A	N/A	GenCC

Show/Hide Text Mining Associations (8)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Autistic Disorder	Associate	12826745, 30269351
Bipolar Disorder	Associate	25451450
Developmental Disabilities	Associate	34573300
Disease	Associate	30269351
Epilepsies Myoclonic	Associate	30269351
Epilepsy	Associate	30269351
Language Disorders	Associate	12826745
Multiple Myeloma	Associate	19135901

NBEA (neurobeachin)