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GAMT Gene

protein-coding   GIFtS: 67
GCID: GC19M001397

Guanidinoacetate N-Methyltransferase

  See GAMT-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Guanidinoacetate N-Methyltransferase1 2     PIG22
EC 2.1.1.23 8     TP53I22
CCDS22 5     Epididymis Secretory Protein Li 202
HEL-S-202     

External Ids:    HGNC: 41361   Entrez Gene: 25932   Ensembl: ENSG000001300057   OMIM: 6012405   UniProtKB: Q143533   

Export aliases for GAMT gene to outside databases

Previous GC identifers: GC19M001454 GC19M001466 GC19M001337 GC19M001348 GC19M001171


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for GAMT Gene:
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)

GeneCards Summary for GAMT Gene:
GAMT (guanidinoacetate N-methyltransferase) is a protein-coding gene. Diseases associated with GAMT include movement disease, and cerebral creatine deficiency syndrome. GO annotations related to this gene include guanidinoacetate N-methyltransferase activity and methyltransferase activity.

Gene Wiki entry for GAMT (Guanidinoacetate N-methyltransferase) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000019.9  NC_018930.2  NT_011295.12  
Regulatory elements:
   Regulatory transcription factor binding sites in the GAMT gene promoter:
         SRF   GR   SRF (504 AA)   GR-beta   NRSF form 1   NRSF form 2   HEN1   GR-alpha   LyF-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGAMT promoter sequence
   Search Chromatin IP Primers for GAMT

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GAMT


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19p13.3   Ensembl cytogenetic band:  19p13.3   HGNC cytogenetic band: 19p13.3

GAMT Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GAMT gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M001397:  view genomic region     (about GC identifiers)

Start:
1,397,088 bp from pter      End:
1,401,569 bp from pter
Size:
4,482 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: GAMT_HUMAN, Q14353 (See protein sequence)
Recommended Name: Guanidinoacetate N-methyltransferase  
Size: 236 amino acids; 26318 Da
Subunit: Monomer (By similarity)
1 PDB 3D structure from and Proteopedia for GAMT:
3ORH (3D)    
Secondary accessions: A8K0A0 Q53Y34 Q8WVJ1
Alternative splicing: 2 isoforms:  Q14353-1   Q14353-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for GAMT: NX_Q14353

Explore proteomics data for GAMT at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • 3 DME Specific Peptides for GAMT (Q14353)
     PLKGLWE  GFGMAIAA  LTYCNLTSWGEL 


    See GAMT Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_000147.1  NP_620279.1  

    ENSEMBL proteins: 
     ENSP00000252288   ENSP00000403536   ENSP00000466341  
    Reactome Protein details: Q14353

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR016550 GuanidinoAc_N-MeTrfase
     IPR026480 RMT2_dom

    Graphical View of Domain Structure for InterPro Entry Q14353

    ProtoNet protein and cluster: Q14353

    UniProtKB/Swiss-Prot: GAMT_HUMAN, Q14353
    Similarity: Belongs to the class I-like SAM-binding methyltransferase superfamily. RMT2 methyltransferase family
    Similarity: Contains 1 RMT2 (arginine N-methyltransferase 2-like) domain


    Find genes that share domains with GAMT           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GAMT_HUMAN, Q14353
    Catalytic activity: S-adenosyl-L-methionine + guanidinoacetate = S-adenosyl-L-homocysteine + creatine

         Genatlas biochemistry entry for GAMT:
    guanidinoacetate N-methyltransferase,expressed in liver,catalyzing the synthesis of creatine from
    guanidinoaacetate and S-adenosylmethionine

         Enzyme Number (IUBMB): EC 2.1.1.21 2

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008168methyltransferase activity TAS9325156
    GO:0030731guanidinoacetate N-methyltransferase activity IMP8651275
         
    Find genes that share ontologies with GAMT           About GenesLikeMe


    Phenotypes:
         9 MGI mutant phenotypes (inferred from 1 allele(MGI details for Gamt):
     adipose tissue  behavior/neurological  cellular  endocrine/exocrine gland  growth/size/body 
     homeostasis/metabolism  mortality/aging  renal/urinary system  reproductive system 

    Find genes that share phenotypes with GAMT           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Gamttm1Isb for GAMT

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GAMT
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    SwitchGear 3'UTR luciferase reporter plasmidGAMT 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    nucleus2
    plasma membrane2
    mitochondrion1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--

    Find genes that share ontologies with GAMT           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for GAMT About    
    See pathways by source

    SuperPathContained pathways About
    1Metabolism of amino acids and derivatives
    Metabolism of amino acids and derivatives
    Creatine metabolism0.00
    glycine degradation (creatine biosynthesis)0.00
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3Arginine and proline metabolism
    Arginine and proline metabolism
    Urea cycle and metabolism of amino groups0.00
    4Glycine, serine and threonine metabolism
    Glycine, serine and threonine metabolism


    Find genes that share SuperPaths with GAMT           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for GAMT
        glycine degradation (creatine biosynthesis)
    Urea cycle and metabolism of amino groups


    1 Reactome Pathway for GAMT
        Creatine metabolism


    3 Kegg Pathways  (Kegg details for GAMT):
        Glycine, serine and threonine metabolism
    Arginine and proline metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: GAMT_HUMAN, Q14353
    Pathway: Amine and polyamine biosynthesis; creatine biosynthesis; creatine from L-arginine and glycine: step 2/2

        Pathway & Disease-focused RT2 Profiler PCR Arrays including GAMT: 

              Nephrotoxicity in human mouse rat
              Amino Acid Metabolism I in human mouse rat
              Drug Metabolism: Phase II Enzymes in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for GAMT

    STRING Interaction Network Preview (showing 5 interactants - click image to see 21)

    Selected Interacting proteins for GAMT (Q143533 ENSP000004035364) via UniProtKB, MINT, STRING, and/or I2D (see all 22)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ELANEP082463I2D: score=1 
    CKBENSP000002991984STRING: ENSP00000299198
    CKMENSP000002214764STRING: ENSP00000221476
    CKMT2ENSP000002540354STRING: ENSP00000254035
    GATMENSP000003798954STRING: ENSP00000379895
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006600creatine metabolic process TAS--
    GO:0006601creatine biosynthetic process IEA--
    GO:0006936muscle contraction TAS8547310
    GO:0007283spermatogenesis IEA--
    GO:0009887organ morphogenesis IEA--

    Find genes that share ontologies with GAMT           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for GAMT

    4 HMDB Compounds for GAMT    About this table
    CompoundSynonyms CAS #PubMed Ids
    Creatine((amino(imino)methyl)(methyl)amino)acetate (see all 17)57-00-1--
    Guanidoacetic acid(carboxymethyl)-Guanidine (see all 27)352-97-6--
    S-Adenosylhomocysteine(S)-5'-(S)-(3-Amino-3-carboxypropyl)-5'-thioadenosine (see all 19)979-92-0--
    S-Adenosylmethionine(3S)-5'-[(3-amino-3-carboxypropyl)methylsulfonio]-5'-deoxyadenosine (see all 16)29908-03-0--

    4 DrugBank Compounds for GAMT    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    GuanidineAminomethanamidine (see all 9)113-00-8target--179611 15533043 17139284 17016423 10592235
    Creatine(alpha-Methylguanido)acetic acid (see all 6)57-00-1targetproduct of17486546 17336114 17347380
    N-[Amino(Imino)Methyl]Glycine-- --target--17139284 17016423 10592235
    S-Adenosyl-L-Homocysteine-- 979-92-0target--17139284 17016423 10592235

    9 Novoseek inferred chemical compound relationships for GAMT gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    guanidinoacetate 99 153 12597058 (4), 12324495 (4), 12701824 (4), 15028668 (3) (see all 65)
    guanidino 83.1 3 15028668 (1), 9322805 (1)
    creatinine 77.4 143 12597058 (3), 15028668 (3), 16941429 (3), 9322805 (3) (see all 53)
    ornithine 64.3 3 11749046 (2), 12701824 (1)
    phosphocreatine 64.3 2 15234333 (2)
    arginine 39 3 11749046 (2), 12701824 (1)
    s-adenosylmethionine 23.6 2 16471489 (1)
    fatty acid 0.759 4 19917247 (1), 19917243 (1), 20404548 (1)
    hydrogen 0 1 19733262 (1)



    Find genes that share compounds with GAMT           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for GAMT gene (2 alternative transcripts): 
    NM_000156.5  NM_138924.2  

    Unigene Cluster for GAMT:

    Guanidinoacetate N-methyltransferase
    Hs.81131  [show with all ESTs]
    Unigene Representative Sequence: NM_138924
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000252288(uc002lsj.3) ENST00000447102(uc002lsk.3) ENST00000591788

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    hsa-miR-124 hsa-miR-506
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    Inhib. RNA
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    Additional mRNA sequence: 

    AF086508.1 AK289465.1 AK297487.1 BC016760.2 BC017936.1 BT007034.1 Z49878.1 

    9 DOTS entries:

    DT.415415  DT.100776274  DT.91699555  DT.86847682  DT.121495003  DT.97792868  DT.121495080  DT.100811293 
    DT.91911056 

    Selected AceView cDNA sequences (see all 207):

    BX438620 F34635 BQ678012 BU622961 AA722440 BC016760 AI419810 CR622940 
    CK818879 F24913 CA433789 BU553002 BI116027 F26602 AW328135 F24553 
    CB242422 BE907355 BM552032 F19478 CB054088 BM560778 BM561530 CR598497 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for GAMT    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7
    SP1:                                      -     -         
    SP2:                                                      
    SP3:                                                      


    ECgene alternative splicing isoforms for GAMT

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    GAMT expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCCTCCTCCG
    GAMT Expression
    About this image


    GAMT expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Brain (Nervous System)
             Myelinating Oligodendrocyte Cells Forebrain White Matter
     
     Liver (Hepatobiliary System)
     
     Skeletal Muscle (Muscoskeletal System)
    GAMT Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GAMT Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.81131

    UniProtKB/Swiss-Prot: GAMT_HUMAN, Q14353
    Tissue specificity: Expressed in liver

        Pathway & Disease-focused RT2 Profiler PCR Arrays including GAMT: 
              Nephrotoxicity in human mouse rat
              Amino Acid Metabolism I in human mouse rat
              Drug Metabolism: Phase II Enzymes in human mouse rat

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for GAMT gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gamt1 , 5 guanidinoacetate methyltransferase1, 5 84.82(n)1
    88.09(a)1
      10 (39.72 cM)5
    144311  NM_010255.31  NP_034385.11 
     802581515 
    chicken
    (Gallus gallus)
    Aves GAMT6
    guanidinoacetate N-methyltransferase
    42(a)
    1 ↔ 1
    28(3068477-3070155)
    lizard
    (Anolis carolinensis)
    Reptilia GAMT6
    guanidinoacetate N-methyltransferase
    64(a)
    1 ↔ 1
    AAWZ02037456(6766-14422)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.287822 Xenopus laevis transcribed sequence with moderate similarity more 78.56(n)    48019336 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.284512 Danio rerio guanidinoacetate N-methyltransferase mRNA, more 74.97(n)    AF425745.1 


    ENSEMBL Gene Tree for GAMT (if available)
    TreeFam Gene Tree for GAMT (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GAMT gene

    Find genes that share paralogs with GAMT           About GenesLikeMe


    2 Pseudogenes.org Pseudogenes for GAMT
    PGOHUM00000248359 PGOHUM00000240553


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for GAMT (see all 206)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0581044
    Cerebral creatine deficiency syndrome 2 (CCDS2)4--see VAR_0581042 H P mis40--------
    VAR_0581034
    Cerebral creatine deficiency syndrome 2 (CCDS2)4--see VAR_0581032 M L mis40--------
    VAR_0581024
    Cerebral creatine deficiency syndrome 2 (CCDS2)4--see VAR_0581022 W S mis40--------
    VAR_0581054
    Cerebral creatine deficiency syndrome 2 (CCDS2)4--see VAR_0581052 A P mis40--------
    VAR_0581064
    Cerebral creatine deficiency syndrome 2 (CCDS2)4--see VAR_0581062 C Y mis40--------
    rs178515821,2,,4
    C,Fnon-pathogenic11325998(+) CCTCCG/ATACGG 3 /T /M mis1 ds5001 ese36Minor allele frequency- A:0.07NA EU 5765
    rs557768261,2
    C,Fnon-pathogenic11327611(+) CAGGAC/TGGAGG 2 -- int16Minor allele frequency- T:0.14NA WA CSA 245
    rs803387351,2
    Cpathogenic11328347(-) CACAAA/GGTGCC 4 K syn10--------
    rs1048946941,2
    Cpathogenic11329883(-) CCTATA/CTGCAC 4 M L mis10--------
    rs803387341,2
    Cpathogenic11329972(-) CGCGTC/GGGGGG 4 S W mis10--------

    HapMap Linkage Disequilibrium report for GAMT (1397088 - 1401569 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for GAMT (see all 21):    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv3589n71CNV Loss21882294
    nsv910292CNV Loss21882294
    nsv910499CNV Loss21882294
    nsv910489CNV Loss21882294
    dgv3595n71CNV Loss21882294
    dgv3555n71CNV Loss21882294
    nsv910494CNV Loss21882294
    dgv3596n71CNV Loss21882294
    dgv3588n71CNV Loss21882294
    nsv910492CNV Loss21882294

    Human Gene Mutation Database (HGMD): GAMT
    Locus Specific Mutation Databases (LSDB): GAMT

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601240   
    OMIM disorders: 612736  
    UniProtKB/Swiss-Prot: GAMT_HUMAN, Q14353
  • Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736]: An autosomal recessive disorder
    characterized by developmental delay and regression, mental retardation, severe disturbance of expressive and
    cognitive speech, intractable seizures, movement disturbances, severe depletion of creatine and phosphocreatine
    in the brain, and accumulation of guanidinoacetic acid in brain and body fluids. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 7 diseases for GAMT:    
    About MalaCards
    movement disease    cerebral creatine deficiency syndrome    guanidinoacetate methyltransferase deficiency    creatine deficiency syndromes
    creatine transporter deficiency    agat deficiency    hypotonia

    3 diseases from the University of Copenhagen DISEASES database for GAMT:
    AGAT deficiency     Intellectual disability     Movement disease

    Find genes that share disorders with GAMT           About GenesLikeMe

    5 Novoseek inferred disease relationships for GAMT gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mental retardation 75.5 5 12597058 (1), 17336114 (1), 15108290 (1), 16054853 (1) (see all 5)
    language delay 74.6 2 17186272 (1), 19388150 (1)
    movement disorders 72.9 7 8547310 (1), 12597058 (1), 12701824 (1), 12889668 (1) (see all 7)
    developmental delay 65.6 2 19027335 (1), 11412830 (1)
    epilepsy 63.3 10 12597058 (2), 19388150 (2), 17336114 (1), 15108290 (1) (see all 8)

    Genatlas disease: GAMT
    muscular hypotonia,severe,progressive extrapyramidal movement disorder,extremely low excretion of creatine and
    accumulation of guanidinoacetate in brain

    GeneTests: GAMT
    GeneReviews: GAMT
    Genetic Association Database (GAD): GAMT
    Human Genome Epidemiology (HuGE) Navigator: GAMT (3 documents)

    Export disorders for GAMT gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for GAMT gene, integrated from 10 sources (see all 100):
    (articles sorted by number of sources associating them with GAMT)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and sequence analysis of human guanidinoacetate N- methyltransferase cDNA. (PubMed id 8547310)1, 2, 3, 9 Isbrandt D. and von Figura K. (Biochim. Biophys. Acta 1995)
    2. The human guanidinoacetate methyltransferase (GAMT) gene maps to a syntenic region on 19p13.3, homologous to band C of mouse chromosome 10, but GAMT is not mutated in jittery mice. (PubMed id 9325156)1, 2, 9 Jenne D.E.... Zimmer M. (Biochem. Biophys. Res. Commun. 1997)
    3. A prevalent pathogenic GAMT mutation (c.59G&gt;C) in Portugal. (PubMed id 17336114)1, 7, 9 Almeida L.S....Salomons G.S. (Mol. Genet. Metab. 2007)
    4. Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man. (PubMed id 8651275)1, 2, 9 Stoeckler S.... von Figura K. (Am. J. Hum. Genet. 1996)
    5. The gene encoding guanidinoacetate methyltransferase (GAMT) maps to human chromosome 19 at band p13.3 and to mouse chromosome 10. (PubMed id 9570966)1, 3, 9 Chae Y.J....Lee H. (Genomics 1998)
    6. An association study of 45 folate-related genes in spina bifida: Involvement of cubilin (CUBN) and tRNA aspartic acid methyltransferase 1 (TRDMT1). (PubMed id 19161160)1, 4 Franke B....Blom H.J. (Birth Defects Res. Part A Clin. Mol. Teratol. 2009)
    7. Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects. (PubMed id 19343046)1, 4 Saito A....Kamatani N. (J. Hum. Genet. 2009)
    8. The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)1, 2 Grimwood J.... Lucas S.M. (Nature 2004)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    10. Overexpression of GAMT restores GAMT activity in primary GAMT-deficient fibroblasts. (PubMed id 16899382)1, 9 Almeida L.S....Salomons G.S. (Mol. Genet. Metab. 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
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      Query String
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    OMIM
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 2593 HGNC: 4136 AceView: GAMT Ensembl:ENSG00000130005 euGenes: HUgn2593
    ECgene: GAMT Kegg: 2593 H-InvDB: GAMT

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for GAMT Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=GAMT[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for GAMT gene:
    Search GeneIP for patents involving GAMT

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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