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NBEAL2

GENERAL INFORMATION

Gene name

 NBEAL2

Gene description

 Neurobeachin-like 2

Protein class

 Disease related genes
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 4
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Cytoplasmic expression in most tissues.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly not consistent with RNA expression data. Pending external verification.

Reliability score

 Approved based on 1 antibody.
HPA051969
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 NBEAL2 (HGNC Symbol)

Synonyms

 KIAA0540

Description

 Neurobeachin-like 2 (HGNC Symbol)

Entrez gene 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 RefSeq, Dec 2011]

Chromosome

 3

Cytoband

 p21.31

Chromosome location (bp)

 46979683 - 47009703

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000160796 (version 83.38)

Entrez gene

 23218

UniProt

 Q6ZNJ1 (UniProt - Evidence at protein level)

neXtProt

 NX_Q6ZNJ1

Antibodypedia

 NBEAL2 antibodies

PROTEIN BROWSER
NBEAL2-001
NBEAL2-003
NBEAL2-004
NBEAL2-011

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
NBEAL2-001
ENSP00000415034
ENST00000450053
Q6ZNJ1 [Direct mapping]
Neurobeachin-like protein 2
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   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005488 [binding]
GO:0005515 [protein binding]
GO:0005543 [phospholipid binding]
GO:0005783 [endoplasmic reticulum]
GO:0007596 [blood coagulation]
GO:0012505 [endomembrane system]
GO:0016020 [membrane]
GO:0016197 [endosomal transport]
GO:0019898 [extrinsic component of membrane]
GO:0030220 [platelet formation]
GO:0035855 [megakaryocyte development]
GO:0042060 [wound healing]
GO:0070889 [platelet alpha granule organization]
Show all
 2754 aa
302.5 kDa 		No 0
NBEAL2-003
ENSP00000410405
ENST00000416683
H0Y764 [Direct mapping]
Neurobeachin-like protein 2
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   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0005543 [phospholipid binding]
GO:0005622 [intracellular]
GO:0012505 [endomembrane system]
GO:0016197 [endosomal transport]
GO:0019898 [extrinsic component of membrane]
Show all
 2042 aa
224.5 kDa 		No 0
NBEAL2-004
ENSP00000414560
ENST00000443829
H7C3Y7 [Direct mapping]
Neurobeachin-like protein 2
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0005543 [phospholipid binding]
GO:0005622 [intracellular]
GO:0012505 [endomembrane system]
GO:0016197 [endosomal transport]
GO:0019898 [extrinsic component of membrane]
Show all
 1093 aa
121.6 kDa 		No 0
NBEAL2-011
ENSP00000415063
ENST00000423436
H7C408 [Direct mapping]
Neurobeachin-like protein 2
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005543 [phospholipid binding]
GO:0005622 [intracellular]
GO:0012505 [endomembrane system]
GO:0016197 [endosomal transport]
GO:0019898 [extrinsic component of membrane]
Show all
 255 aa
28.9 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.