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GAPDHS Gene

protein-coding   GIFtS: 64
GCID: GC19P036024

Glyceraldehyde-3-Phosphate Dehydrogenase, Spermatogenic


(Previous symbol: GAPDS)
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(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
Glyceraldehyde-3-Phosphate Dehydrogenase, Spermatogenic1 2     EC 1.2.1.123 8
GAPDS1 2 3     HSD-352
GAPD22 3 5     Glyceraldehyde-3-Phosphate Dehydrogenase, Testis-Specific2
Spermatogenic Cell-Specific Glyceraldehyde 3-Phosphate Dehydrogenase 22 3     GAPDH23
Spermatogenic Glyceraldehyde-3-Phosphate Dehydrogenase2 3     EC 1.2.18
GAPDH-22 3     

External Ids:    HGNC: 248641   Entrez Gene: 263302   Ensembl: ENSG000001056797   OMIM: 6091695   UniProtKB: O145563   

Export aliases for GAPDHS gene to outside databases

Previous GC identifers: GC19P040717 GC19P032529


(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 GAPDHS Gene:
This gene encodes a protein belonging to the glyceraldehyde-3-phosphate dehydrogenase family of enzymes that play
an important role in carbohydrate metabolism. Like its somatic cell counterpart, this sperm-specific enzyme
functions in a nicotinamide adenine dinucleotide-dependent manner to remove hydrogen and add phosphate to
glyceraldehyde 3-phosphate to form 1,3-diphosphoglycerate. During spermiogenesis, this enzyme may play an
important role in regulating the switch between different energy-producing pathways, and it is required for sperm
motility and male fertility. (provided by RefSeq, Jul 2008)

GeneCards Summary for GAPDHS Gene:
GAPDHS (glyceraldehyde-3-phosphate dehydrogenase, spermatogenic) is a protein-coding gene. GO annotations related to this gene include NADP binding and glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity. An important paralog of this gene is GAPDH.

UniProtKB/Swiss-Prot: G3PT_HUMAN, O14556
Function: May play an important role in regulating the switch between different pathways for energy production
during spermiogenesis and in the spermatozoon. Required for sperm motility and male fertility (By similarity)

Gene Wiki entry for GAPDHS 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  NT_011109.17  NC_018930.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the GAPDHS gene promoter:
         AP-1   AML1a   E47   MZF-1   POU2F1   POU2F1a   FOXO1a   ATF   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGAPDHS promoter sequence
   Search Chromatin IP Primers for GAPDHS

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


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

Entrez Gene cytogenetic band: 19q13.12   Ensembl cytogenetic band:  19q13.12   HGNC cytogenetic band: 19q13.1

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

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P036024:  view genomic region     (about GC identifiers)

Start:
36,024,314 bp from pter      End:
36,036,221 bp from pter
Size:
11,908 bases      Orientation:
plus 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: G3PT_HUMAN, O14556 (See protein sequence)
Recommended Name: Glyceraldehyde-3-phosphate dehydrogenase, testis-specific  
Size: 408 amino acids; 44501 Da
Subunit: Homotetramer. Interacts with ARRB2; the interaction is detected in the nucleus upon OR1D2 stimulation
2 PDB 3D structures from and Proteopedia for GAPDHS:
3H9E (3D)        3PFW (3D)    
Secondary accessions: B2RC82 O60823 Q6JTT9 Q9HCU6

Explore the universe of human proteins at neXtProt for GAPDHS: NX_O14556

Explore proteomics data for GAPDHS at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for GAPDHS (O14556) (see all 29)
     GLMTTVH  FDAKAGI  VAVNDPF  TTVHSYT 


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

    REFSEQ proteins: NP_055179.1  
    ENSEMBL proteins: 
     ENSP00000222286   ENSP00000466432   ENSP00000467255  
    Reactome Protein details: O14556

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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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    Selected InterPro protein domains (see all 6):
     IPR020831 GlycerAld/Erythrose_P_DH
     IPR020828 GlycerAld_3-P_DH_NAD(P)-bd
     IPR006424 Glyceraldehyde-3-P_DH_1
     IPR020830 GlycerAld_3-P_DH_AS
     IPR020829 GlycerAld_3-P_DH_cat

    Graphical View of Domain Structure for InterPro Entry O14556

    ProtoNet protein and cluster: O14556

    1 Blocks protein domain: IPB000173 Glyceraldehyde 3-phosphate dehydrogenase

    UniProtKB/Swiss-Prot: G3PT_HUMAN, O14556
    Domain: The testis-specific N-terminal extension mediates tight association with the cytoskeletal fibrous sheath
    of the spermatozoa flagellum, possibly via interchain disulfide-bonding of Cys-21 with sheath components
    (PubMed:18298375)
    Similarity: Belongs to the glyceraldehyde-3-phosphate dehydrogenase family


    Find genes that share domains with GAPDHS           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: G3PT_HUMAN, O14556
    Function: May play an important role in regulating the switch between different pathways for energy production
    during spermiogenesis and in the spermatozoon. Required for sperm motility and male fertility (By similarity)
    Catalytic activity: D-glyceraldehyde 3-phosphate + phosphate + NAD(+) = 3-phospho-D-glyceroyl phosphate + NADH

         Enzyme Numbers (IUBMB): EC 1.2.1.121 2 EC 1.2.12

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004365glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity TAS10714828
    GO:0005515protein binding IPI16820410
    GO:0016620oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor ----
    GO:0050661NADP binding IEA--
    GO:0051287NAD binding IEA--
         
    Find genes that share ontologies with GAPDHS           About GenesLikeMe


    Phenotypes:
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Gapdhs):
     reproductive system 

    Find genes that share phenotypes with GAPDHS           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Gapdhstm1Dao for GAPDHS

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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 UniProtKB/Swiss-Prot
    G3PT_HUMAN, O14556: Cytoplasm (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    mitochondrion3
    chloroplast2
    nucleus1
    peroxisome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005829cytosol TAS--
    GO:0005929cilium ----
    GO:0031514motile cilium IEA--

    Find genes that share ontologies with GAPDHS           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 GAPDHS About    
    See pathways by source

    SuperPathContained pathways About
    1Glycolysis and gluconeogenesis short map
    Glycolysis and gluconeogenesis short map 0.60
    Glycolysis0.40
    Glycolysis and Gluconeogenesis0.60
    gluconeogenesis0.39
    Glycolysis / Gluconeogenesis0.46
    glycolysis0.00
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3Glucose metabolism
    Glucose metabolism0.44
    Gluconeogenesis0.44
    4MPS VI - Maroteaux-Lamy syndrome
    Metabolism of carbohydrates0.45
    5Citric acid cycle (TCA cycle)
    conversion of glucose to acetyl CoA and entry into the TCA cycle0.43


    Find genes that share SuperPaths with GAPDHS           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for GAPDHS
        Glycolysis and gluconeogenesis (short map)

    4 BioSystems Pathways for GAPDHS
        Glycolysis and Gluconeogenesis
    glycolysis
    gluconeogenesis
    conversion of glucose to acetyl CoA and entry into the TCA cycle

    2 Reactome Pathways for GAPDHS
        Gluconeogenesis
    Glycolysis


    2 Kegg Pathways  (Kegg details for GAPDHS):
        Glycolysis / Gluconeogenesis
    Metabolic pathways

    UniProtKB/Swiss-Prot: G3PT_HUMAN, O14556
    Pathway: Carbohydrate degradation; glycolysis; pyruvate from D-glyceraldehyde 3-phosphate: step 1/5

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for GAPDHS
    Interactions:

        Search GeneGlobe Interaction Network for GAPDHS

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for GAPDHS (O145563 ENSP000002222864) via UniProtKB, MINT, STRING, and/or I2D (see all 86)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    NTHL1P785493, ENSP000002190664I2D: score=2 STRING: ENSP00000219066
    SH3BP4Q9P0V33, ENSP000003402374I2D: score=1 STRING: ENSP00000340237
    E2F4Q162543I2D: score=1 
    FANCGO152873I2D: score=1 
    KAT2AQ928303I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0006006glucose metabolic process TAS--
    GO:0006094gluconeogenesis TAS--
    GO:0006096glycolytic process TAS--
    GO:0007286spermatid development IEA--

    Find genes that share ontologies with GAPDHS           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 GAPDHS (G3PT)

    7 HMDB Compounds for GAPDHS    About this table
    CompoundSynonyms CAS #PubMed Ids
    D-Glyceraldehyde 3-phosphate2-hydroxy-3-(phosphonooxy)-Propanal (see all 11)142-10-9--
    Glyceric acid 1,3-biphosphate1,3-Biphosphoglycerate (see all 25)1981-49-3--
    NAD3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)53-84-9--
    NADH1,4-Dihydronicotinamide adenine dinucleotide (see all 17)58-68-4--
    NADPAdenine-nicotinamide dinucleotide phosphate (see all 18)53-59-8--
    NADPH2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide (see all 23)53-57-6--
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--

    5 DrugBank Compounds for GAPDHS    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    NADHbeta-DPNH (see all 18)606-68-8target--12492483 17139284 15488735 16239728 17016423
    N-1,2,3,4-Tetrahydronaphth-1-Yl-2'-[3,5-Dimethoxybenzamido]-2'-Deoxy-Adenosine-- --target--17139284 17016423 10592235
    N-Naphthalen-1-Ylmethyl-2'-[3,5-Dimethoxybenzamido]-2'-Deoxy-Adenosine-- --target--17139284 17016423 10592235
    6-(1,1-Dimethylallyl)-2-(1-Hydroxy-1-Methylethyl)-2,3-Dihydro-7h-Furo[3,2-G]Chromen-7-One-- --target--10592235
    Nicotinamide-Adenine-Dinucleotide-- 53-84-9target--10592235

    1 Novoseek inferred chemical compound relationship for GAPDHS gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glyceraldehyde 3-phosphate 78.5 6 7736666 (2), 17680766 (1), 16700075 (1), 10714828 (1) (see all 5)



    Find genes that share compounds with GAPDHS           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 GAPDHS gene: 
    NM_014364.4  

    Unigene Cluster for GAPDHS:

    Glyceraldehyde-3-phosphate dehydrogenase, spermatogenic
    Hs.248017  [show with all ESTs]
    Unigene Representative Sequence: NM_014364
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000222286(uc002oaf.1) ENST00000586334 ENST00000585510
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    Additional mRNA sequence: 

    AJ005371.1 AK225727.1 AK314980.1 AY306129.1 BC036373.2 

    3 DOTS entries:

    DT.432666  DT.75133827  DT.121504578 

    Selected AceView cDNA sequences (see all 48):

    BM563402 AJ005371 BM564052 BX280438 R88358 BI520497 BU726467 BI520542 
    BI520157 BG769351 BI826019 BI830649 BP371634 BG764341 BI827996 BI828765 
    BG718767 AY306129 BM908146 BM554283 BG764429 BF689842 BU185616 BP370068 

    GeneLoc Exon Structure

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

    ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11
    SP1:              -                                                               
    SP2:                                                                              
    SP3:              -     -                                                         


    ECgene alternative splicing isoforms for GAPDHS

    (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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    GAPDHS expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGAAATAAA
    GAPDHS Expression
    About this image


    GAPDHS expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Testis (Reproductive System)    fully expand to see all 3 entries
             Leydig Cells Testis Interstitium
             Testis Interstitium
    GAPDHS Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GAPDHS Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.248017

    UniProtKB/Swiss-Prot: G3PT_HUMAN, O14556
    Tissue specificity: Testis specific

        Custom PCR Arrays for GAPDHS
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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 eukaryotes.

    Orthologs for GAPDHS gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gapdhs1 , 5 glyceraldehyde-3-phosphate dehydrogenase, spermatogenic1, 5 78.27(n)1
    81.62(a)1
      7 (19.23 cM)5
    144471  NM_008085.11  NP_032111.11 
     307297755 
    chicken
    (Gallus gallus)
    Aves GAPDH6
    Gallus gallus glyceraldehyde-3-phosphate dehydroge...
    71(a)
    1 ↔ 1
    1(76434647-76437498)
    lizard
    (Anolis carolinensis)
    Reptilia GAPDHS6
    glyceraldehyde-3-phosphate dehydrogenase, spermato...
    56(a)
    1 ↔ 1
    GL343281.1(77515-96668)
    zebrafish
    (Danio rerio)
    Actinopterygii gapdhs1 glyceraldehyde-3-phosphate dehydrogenase, spermatogenic 72.27(n)
    78.08(a)
      406367  NM_213094.2  NP_998259.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Gapdh16
    Gapdh26
    (see all 3)
    Glyceraldehyde 3 phosphate dehydrogenase 2
    (see all 3)
    69(a)
    69(a)
    (see all 3)
    many → 1
    many → 1
    (see all 3)
    2R(3679403-3680885)
    X(15762178-15763694)
    worm
    (Caenorhabditis elegans)
    Secernentea gpd-16
    gpd-26
    (see all 4)
    Protein GPD-2 (gpd-2) mRNA, complete cds
    (see all 4)
    68(a)
    67(a)
    (see all 4)
    many → 1
    many → 1
    (see all 4)
    II(10394114-10395348) WBGene00001683
    X(3113434-3114771) WBGene00001684
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes TDH16
    TDH26
    (see all 3)
    Glyceraldehyde-3-phosphate dehydrogenase, isozyme ...
    Glyceraldehyde-3-phosphate dehydrogenase, isozyme ...
    (see all 3)
    65(a)
    64(a)
    (see all 3)
    many → 1
    many → 1
    (see all 3)
    X(338271-339269) YJL052W
    X(453683-454681) YJR009C
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons GAPC21 GAPC2 62.8(n)
    65.24(a)
      837904  NM_101214.3  NP_172801.1 
    rice
    (Oryza sativa)
    Liliopsida Os02g06013001 Os02g0601300 64.86(n)
    65.36(a)
      4329892  NM_001053883.1  NP_001047348.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GAPDHS gene
    GAPDH2  
    1 SIMAP similar gene for GAPDHS using alignment to 3 protein entries:     G3PT_HUMAN (see all proteins):
    GAPDH

    Find genes that share paralogs with GAPDHS           About GenesLikeMe


    3 Pseudogenes.org Pseudogenes for GAPDHS
    PGOHUM00000262850 PGOHUM00000239823 PGOHUM00000250531


    (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 GAPDHS (see all 183)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs105328761,2
    C--32530533(+) GCGCC-/CGCGCGC 1 -- int10--------
    rs81128531,2
    C,F,A,H--36022352(+) TGCAGG/CTGATG 1 -- us2k117Minor allele frequency- C:0.22NS EA NA WA 934
    rs1446483751,2
    C--36022407(+) GGGGCC/TGCAGG 1 -- us2k10--------
    rs739282221,2
    C,F--36022498(+) CAGTCG/ATGAAC 1 -- us2k12Minor allele frequency- A:0.12WA 120
    rs1895854401,2
    --36022547(+) CCCAAC/GGGGGA 1 -- us2k10--------
    rs126087941,2
    C,F,H--36022638(+) AGATAT/CAACGT 1 -- us2k1 tfbs310Minor allele frequency- C:0.10EA NS NA WA 666
    rs48061711,2
    C,F,A,H--36022641(+) TATAAC/TGTGAA 1 -- us2k1 tfbs314Minor allele frequency- N:0.00EA NA NS CSA 882
    rs1478831301,2
    --36022779(+) GAAACC/TCCGTC 1 -- us2k10--------
    rs1807856891,2
    --36022813(+) AAAAAA/TATTAG 1 -- us2k10--------
    rs1133406341,2
    C,F--36022968(+) TCAAAA/GAAAAG 1 -- us2k14Minor allele frequency- G:0.26NA CSA 125

    HapMap Linkage Disequilibrium report for GAPDHS (36024314 - 36036221 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for GAPDHS:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv911628CNV Loss21882294
    nsv833811CNV Gain17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GAPDHS
    DNA2.0 Custom Variant and Variant Library Synthesis for GAPDHS

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 609169    OMIM disorders: --


    Find genes that share disorders with GAPDHS           About GenesLikeMe

    Genetic Association Database (GAD): GAPDHS
    Human Genome Epidemiology (HuGE) Navigator: GAPDHS (4 documents)

    Export disorders for GAPDHS 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 GAPDHS gene, integrated from 10 sources (see all 46):
    (articles sorted by number of sources associating them with GAPDHS)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human glyceraldehyde 3-phosphate dehydrogenase-2 gene is expressed specifically in spermatogenic cells. (PubMed id 10714828)1, 2, 3, 9 Welch J.E.... Eddy E.M. (J. Androl. 2000)
    2. Investigation of glyceraldehyde-3-phosphate dehydrogenase from human sperms. (PubMed id 18298375)1, 2, 9 Shchutskaya Y.Y....Schmalhausen E.V. (Biokhimiia 2008)
    3. Structure and kinetic characterization of human sperm-specific glyceraldehyde-3-phosphate dehydrogenase, GAPDS. (PubMed id 21269272)1, 2 Chaikuad A.... Yue W.W. (Biochem. J. 2011)
    4. Association of CR1, CLU and PICALM with Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals. (PubMed id 20534741)1, 4 Corneveaux J.J....Huentelman M.J. (Hum. Mol. Genet. 2010)
    5. Systematic meta-analyses of Alzheimer disease genetic association studies: the AlzGene database. (PubMed id 17192785)1, 4 Bertram L....Tanzi R.E. (Nat. Genet. 2007)
    6. Novel function of beta-arrestin2 in the nucleus of mature spermatozoa. (PubMed id 16820410)1, 2 Neuhaus E.M.... Hatt H. (J. Cell Sci. 2006)
    7. Exploring the association of glyceraldehyde-3-phosphate dehydrogenase gene and Alzheimer disease. (PubMed id 16832079)1, 4 Lin P.I....Pericak-Vance M.A. (Neurology 2006)
    8. Association of late-onset Alzheimer's disease with genetic variation in multiple members of the GAPD gene family. (PubMed id 15507493)1, 4 Li Y....Grupe A. (Proc. Natl. Acad. Sci. U.S.A. 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. The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)1, 2 Grimwood J.... Lucas S.M. (Nature 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (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: 26330 HGNC: 24864 AceView: GAPDS Ensembl:ENSG00000105679 euGenes: HUgn26330
    ECgene: GAPDHS Kegg: 26330 H-InvDB: GAPDHS

    (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 GAPDHS Pharmacogenomics, SNPs, Pathways

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

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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