Expression of NBEAL2 in cancer - Summary

CANCER ATLAS

Gene description

Neurobeachin-like 2

Protein class

Disease related genes, Predicted intracellular proteins

Protein evidence

Evidence at protein level

Colorectal cancer

Breast cancer

Prostate cancer

Lung cancer

Liver cancer

STAINING SUMMARY

HPA051969

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 Show all	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 Show all	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