ALG12

GENERAL INFORMATION

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Gene name

ALG12

Gene description

ALG12, alpha-1,6-mannosyltransferase

Protein class

Disease related genes
Enzymes
Potential drug targets
Predicted membrane proteins

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

Cytoplasmic expression in a majority of tissues.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining mainly consistent with RNA expression data. Pending external verification.

Data reliability

Uncertain based on 1 antibody.
HPA051665
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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

Thyroid gland

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

ALG12 (HGNC Symbol)

Synonyms

ECM39

Description

ALG12, alpha-1,6-mannosyltransferase (HGNC Symbol)

Entrez gene summary

This gene encodes a member of the glycosyltransferase 22 family. The encoded protein catalyzes the addition of the eighth mannose residue in an alpha-1,6 linkage onto the dolichol-PP-oligosaccharide precursor (dolichol-PP-Man(7)GlcNAc(2)) required for protein glycosylation. Mutations in this gene have been associated with congenital disorder of glycosylation type Ig (CDG-Ig)characterized by abnormal N-glycosylation. [provided by RefSeq, Jul 2008]

Chromosome

22

Cytoband

q13.33

Chromosome location (bp)

49900229 - 49918458

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000182858 (version 78.38)

Entrez gene

79087

UniProt

Q9BV10 (UniProt - Evidence at protein level)

neXtProt

NX_Q9BV10

Antibodypedia

ALG12 antibodies


PROTEIN BROWSER

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ENST00000330817
 
ENST00000486602
 
 
 
 


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)

ALG12-001 ENSP00000333813
ENST00000330817
Q9BV10
Show all »
Show » Show » 488 54.7 Yes >9
ALG12-003 ENSP00000420630
ENST00000486602
Show » Show » 205 22.7 No 3