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Gamt
Gene Detail
Symbol

Name
ID
Gamt
guanidinoacetate methyltransferase
MGI:1098221
Synonyms
Spintz1
Feature Type
protein coding gene
Genetic Map
Chromosome 10
39.72 cM
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr10:80258151-80261012 bp, - strand
From VEGA annotation of GRCm38

  2862 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:32089  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: GAMT
Protein SuperFamily: guanidinoacetate N-methyltransferase
Gene Tree: Gamt

Human
homologs
GAMT, guanidinoacetate N-methyltransferase
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 2593
neXtProt AC: NX_Q14353

Human Synonyms: CCDS2, HEL-S-20, PIG2, TP53I2

Human Chr (Location): 19p13.3; chr19:1397026-1401570 (-)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human GAMT

Mutations,
alleles, and
phenotypes
All mutations/alleles(6) : Gene trapped(4) Targeted(2)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Homozygous null mice display increased postnatal lethality; reduced body weight, muscle tension, and creatine concentrations; infertility with impaired spermatogenesis.
 
Human Diseases Modeled in Mice Using Gamt (1)    Mutations Annotated to Human Diseases (1)   
Interactions
Gamt interacts with 31 markers (Mir25, Mir34a, Mir34b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (17 annotations)
Process creatine biosynthetic process, methylation, ...
Component cell projection, extracellular exosome
Function guanidinoacetate N-methyltransferase activity, methyltransferase activity, ...
External Resources: FuncBase
Expression
Literature Summary: (3 records)
Data Summary: Results (8)    Tissues (1)    Images (8)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 8
cDNA source data(70)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase gamt    NEW 
Molecular
reagents
All nucleic(73) Genomic(1) cDNA(70) Primer pair(2)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000000008 (Evidence)
Ensembl Gene Model ENSMUSG00000020150 (Evidence)
Entrez Gene 14431 (Evidence)
UniGene 7329
DFCI TC1683192, TC1578545
DoTS DT.534820, DT.97398434, DT.534819, DT.110619527
NIA Mouse Gene Index U032004
EC 2.1.1.2
Consensus CDS Project CCDS35976.1
International Mouse Phenotyping Consortium Status Gamt
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000000008 VEGA Gene Model | MGI Sequence Detail 2862 C57BL/6J ±  kb
transcript OTTMUST00000045772 VEGA | MGI Sequence Detail 979 Not Applicable 
polypeptide OTTMUSP00000020612 VEGA | MGI Sequence Detail 252 Not Applicable 

For the selected sequences
All sequences(45) RefSeq(10) UniProt(1)
Polymorphisms
PCR(1) : SNPs within 2kb(3 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR026480 Arginine N-methyltransferase 2-like domain
InterPro IPR016550 Guanidinoacetate N-methyltransferase
Protein Ontology PR:000007835 guanidinoacetate N-methyltransferase
References
(Earliest) J:43806 Lee H, et al., Guanidinoacetate methyltransferase in the mouse: extensive expression in Sertoli cells of testis and in microvilli of caput epididymis. Biol Reprod. 1994 Jan;50(1):152-62
(Latest) J:213257 Lygate CA, et al., Living without creatine: unchanged exercise capacity and response to chronic myocardial infarction in creatine-deficient mice. Circ Res. 2013 Mar 15;112(6):945-55
All references(44)
Disease annotation references (1)
Other
accession IDs
MGI:2143491

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
06/23/2015
MGI 5.22
The Jackson Laboratory