ABCB6

GENERAL INFORMATION

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Gene name

ABCB6

Gene description

ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)

Protein class

Disease related genes
Mitochondrial proteins
Potential drug targets
Predicted membrane proteins
Transporters

Predicted localization

Membrane

Number of transcripts

2
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Most normal tissues displayed moderate cytoplasmic staining. Additional membranous positivity was observed in a few cases. Bronchus, glomeruli, hepatocytes, stomach, Leydig cells, thyroid and urothelial cells were strongly stained. Glial cells and bile duct cells along with most cells in lymphoid tissues were weakly stained or negative.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 1 antibody.
HPA046723
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

ABCB6 (HGNC Symbol)

Synonyms

EST45597, MTABC3, umat

Description

ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group) (HGNC Symbol)

Entrez gene summary

The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This half-transporter likely plays a role in mitochondrial function. Localized to 2q26, this gene is considered a candidate gene for lethal neonatal metabolic syndrome, a disorder of mitochondrial function. [provided by RefSeq, Jul 2008]

Chromosome

2

Cytoband

q35

Chromosome location (bp)

219209768 - 219218990

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000115657 (version 78.38)

Entrez gene

10058

UniProt

Q9NP58 (UniProt - Evidence at protein level)

neXtProt

NX_Q9NP58

Antibodypedia

ABCB6 antibodies


PROTEIN BROWSER

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ENST00000265316
 
ENST00000295750
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

ABCB6-001 ENSP00000265316
ENST00000265316
Q9NP58
Show all »
Show » Show » 842 93.9 No >9
ABCB6-005 ENSP00000295750
ENST00000295750
A0A024R436
Show all »
Show » Show » 690 77.4 No 9