GAMT

GENERAL INFORMATION

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Gene name

GAMT

Gene description

Guanidinoacetate N-methyltransferase

Protein class

Disease related genes
Enzymes
FDA approved drug targets
Plasma proteins
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

3
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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 and membranous expression in several tissues.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining mainly not consistent with RNA expression data.

Data reliability

Uncertain based on 1 antibody.
HPA051806
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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

GAMT (HGNC Symbol)

Synonyms

PIG2, TP53I2

Description

Guanidinoacetate N-methyltransferase (HGNC Symbol)

Entrez gene summary

The protein encoded by this gene is a methyltransferase that converts guanidoacetate to creatine, using S-adenosylmethionine as the methyl donor. Defects in this gene have been implicated in neurologic syndromes and muscular hypotonia, probably due to creatine deficiency and accumulation of guanidinoacetate in the brain of affected individuals. Two transcript variants encoding different isoforms have been described for this gene. Pseudogenes of this gene are found on chromosomes 2 and 13. [provided by RefSeq, Feb 2012]

Chromosome

19

Cytoband

p13.3

Chromosome location (bp)

1397084 - 1401570

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000130005 (version 78.38)

Entrez gene

2593

UniProt

Q14353 (UniProt - Evidence at protein level)

neXtProt

NX_Q14353

Antibodypedia

GAMT antibodies


PROTEIN BROWSER

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ENST00000252288
 
ENST00000447102
 
ENST00000591788
 
 
 
 


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)

GAMT-001 ENSP00000252288
ENST00000252288
Q14353
Show all »
Show » Show » 236 26.3 No 0
GAMT-002 ENSP00000403536
ENST00000447102
Q14353
Show all »
Show » Show » 269 29.4 No 0
GAMT-003 ENSP00000466341
ENST00000591788
Show » 108 12.2 No 0