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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

NNT Gene

protein-coding   GIFtS: 66
GCID: GC05P043638

Nicotinamide Nucleotide Transhydrogenase

  See 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)
About This Section

Aliases
Nicotinamide Nucleotide Transhydrogenase1 2 3
Pyridine Nucleotide Transhydrogenase2 3
EC 1.6.1.23 8
GCCD42
NAD(P) Transhydrogenase, Mitochondrial2

External Ids:    HGNC: 78631   Entrez Gene: 235302   Ensembl: ENSG000001129927   OMIM: 6078785   UniProtKB: Q134233   

Export aliases for NNT gene to outside databases

Previous GC identifers: GC05P043918 GC05P044779 GC05P043602 GC05P043648


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for NNT Gene:
This gene encodes an integral protein of the inner mitochondrial membrane. The enzyme couples hydride transfer
between NAD(H) and NADP(+) to proton translocation across the inner mitochondrial membrane. Under most
physiological conditions, the enzyme uses energy from the mitochondrial proton gradient to produce high
concentrations of NADPH. The resulting NADPH is used for biosynthesis and in free radical detoxification. Two
alternatively spliced variants, encoding the same protein, have been found for this gene. (provided by RefSeq,
Jul 2008)

GeneCards Summary for NNT Gene: 
NNT (nicotinamide nucleotide transhydrogenase) is a protein-coding gene. Diseases associated with NNT include familial glucocorticoid deficiency, and glucose intolerance, and among its related super-pathways are NAD metabolism and Metabolic pathways. GO annotations related to this gene include NAD(P)+ transhydrogenase (B-specific) activity and NADP binding.

UniProtKB/Swiss-Prot: NNTM_HUMAN, Q13423
Function: The transhydrogenation between NADH and NADP is coupled to respiration and ATP hydrolysis and functions
as a proton pump across the membrane. May play a role in reactive oxygen species (ROS) detoxification in the
adrenal gland

Gene Wiki entry for NNT 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NT_006576.16  NC_018916.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NNT gene promoter:
         POU2F1   CP2   POU2F1a   Ik-3   LCR-F1   En-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNNT promoter sequence
   Search SABiosciences Chromatin IP Primers for NNT

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NNT


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

Entrez Gene cytogenetic band: 5p12   Ensembl cytogenetic band:  5p12   HGNC cytogenetic band: 5p12

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

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P043638:  view genomic region     (about GC identifiers)

Start:
43,602,791 bp from pter      End:
43,707,507 bp from pter
Size:
104,717 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: NNTM_HUMAN, Q13423 (See protein sequence)
Recommended Name: NAD(P) transhydrogenase, mitochondrial precursor  
Size: 1086 amino acids; 113896 Da
Subunit: Homodimer (By similarity)
Subcellular location: Mitochondrion inner membrane; Multi-pass membrane protein; Matrix side (Potential)
3 PDB 3D structures from and Proteopedia for NNT:
1DJL (3D)        1PT9 (3D)        1U31 (3D)    
Secondary accessions: Q16796 Q2TB60 Q8N3V4

Explore the universe of human proteins at neXtProt for NNT: NX_Q13423

Explore proteomics data for NNT at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q13423

  • 4/11 DME Specific Peptides for NNT (Q13423) (see all 11)
     IHPVAGR  DALSSMANI  IGGADMPVV  VTPALHSPLM 

    NNT Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    NNT Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_036475.3  NP_892022.2  

    ENSEMBL proteins: 
     ENSP00000427670   ENSP00000421886   ENSP00000264663   ENSP00000343873   ENSP00000426343  
     ENSP00000425542   ENSP00000421674   ENSP00000424782  
    Reactome Protein details: Q13423
    Human Recombinant Protein Products for NNT: 
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    Novus Biologicals NNT Protein
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    Cloud-Clone Corp. Proteins for NNT 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA--
    GO:0005743mitochondrial inner membrane TAS10673423
    GO:0005746mitochondrial respiratory chain TAS10673423
    GO:0016021integral to membrane IEA--

    NNT for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for NNT


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/7 InterPro protein domains (see all 7):
     IPR007698 AlaDH/PNT_NAD(H)-bd
     IPR024605 NADP_transhyd_a_C
     IPR008142 Ala_DH/PNT_CS1
     IPR007886 AlaDH/PNT_N
     IPR008143 Ala_DH/PNT_CS2

    Graphical View of Domain Structure for InterPro Entry Q13423

    ProtoNet protein and cluster: Q13423

    2 Blocks protein domains:
    IPB004003 NAD(P) transhydrogenase
    IPB008143 Alanine dehydrogenase/PNT


    UniProtKB/Swiss-Prot: NNTM_HUMAN, Q13423
    Similarity: In the N-terminal section; belongs to the AlaDH/PNT family
    Similarity: In the C-terminal section; belongs to the PNT beta subunit family


    NNT for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NNTM_HUMAN, Q13423
    Function: The transhydrogenation between NADH and NADP is coupled to respiration and ATP hydrolysis and functions
    as a proton pump across the membrane. May play a role in reactive oxygen species (ROS) detoxification in the
    adrenal gland
    Catalytic activity: NADPH + NAD(+) = NADP(+) + NADH

         Genatlas biochemistry entry for NNT:
    nicotinamide nucleotide transhydrogenase,integral protein of the inner mitochondrial
    membrane,proton-pumping,ortholog to bovin and mouse enzymes

         Enzyme Number (IUBMB): EC 1.6.1.21 2

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003957NAD(P)+ transhydrogenase (B-specific) activity TAS9524818
    GO:0008746NAD(P)+ transhydrogenase activity EXP--
    GO:0008750NAD(P)+ transhydrogenase (AB-specific) activity IEA--
    GO:0016491oxidoreductase activity ----
    GO:0050661NADP binding IDA10673423
         
    NNT for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for NNT:
     Increased HPV18 LCR reporter a  Large cells  Synthetic lethal with Ras 

         3 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Nnt):
     cellular  endocrine/exocrine gland  homeostasis/metabolism 

    NNT for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for NNT 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for NNT

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NNT 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NNT 

    miRNA
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    8/14 QIAGEN miScript miRNA Assays for microRNAs that regulate NNT (see all 14):
    hsa-miR-98 hsa-miR-607 hsa-let-7d hsa-miR-561 hsa-let-7c hsa-miR-138-2* hsa-let-7i hsa-let-7e
    SwitchGear 3'UTR luciferase reporter plasmidNNT 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NNT


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for NNT About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1NAD metabolism
    NAD metabolism0.43
    Nicotinate and nicotinamide metabolism0.43
    2Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    3Citric acid cycle (TCA cycle)
    Citric acid cycle (TCA cycle)0.89
    4Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    The citric acid (TCA) cycle and respiratory electron transport0.72
    5Pyruvate metabolism
    Pyruvate metabolism and Citric Acid (TCA) cycle0.49

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for NNT
        NAD metabolism


    1 GeneGo (Thomson Reuters) Pathway for NNT
        NAD metabolism

    1 BioSystems Pathway for NNT
        NAD phosphorylation and dephosphorylation

    4        Reactome Pathways for NNT
        Pyruvate metabolism and Citric Acid (TCA) cycle
    Metabolism
    Citric acid cycle (TCA cycle)
    The citric acid (TCA) cycle and respiratory electron transport


    2         Kegg Pathways  (Kegg details for NNT):
        Nicotinate and nicotinamide metabolism
    Metabolic pathways


    NNT for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for NNT

    STRING Interaction Network Preview (showing 5 interactants - click image to see 17)

    5/19 Interacting proteins for NNT (Q134233 ENSP000002646634) via UniProtKB, MINT, STRING, and/or I2D (see all 19)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HNRNPA1P096513, ENSP000003418264I2D: score=1 STRING: ENSP00000341826
    MMEP084733I2D: score=2 
    BECN1Q144573I2D: score=1 
    IDH2ENSP000003318974STRING: ENSP00000331897
    NADKENSP000003416794STRING: ENSP00000341679
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006099tricarboxylic acid cycle TAS10673423
    GO:0015992proton transport TAS10673423
    GO:0044237cellular metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--
    GO:0055114oxidation-reduction process TAS10673423

    NNT for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    NNT for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for NNT (NNTM)

    4 HMDB Compounds for NNT    About this table
    CompoundSynonyms CAS #PubMed Ids
    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--

    3 DrugBank Compounds for NNT    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    2'-Monophosphoadenosine 5'-Diphosphoribose-- --target--17139284 17016423 10592235
    Tatp-- 17088-37-8target--17139284 17016423
    NADHbeta-DPNH (see all 18)606-68-8target--17216441

    6 Novoseek inferred chemical compound relationships for NNT gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nicotinamide mononucleotide 96.8 21 1324729 (2), 15177281 (2), 16766189 (1), 8616157 (1) (see all 15)
    nicotinamide 50.4 2 1324729 (1), 11097884 (1)
    hydrogen 30.8 5 8647343 (1), 17524345 (1), 7640288 (1), 15729571 (1)
    atp 16.6 3 16399499 (1)
    alanine 14.7 2 8439307 (2)
    glucose 10.2 5 19815054 (2), 16766189 (1), 16945388 (1)

    Search CenterWatch for drugs/clinical trials and news about NNT / NNTM

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for NNT gene (2 alternative transcripts): 
    NM_012343.3  NM_182977.2  

    Unigene Cluster for NNT:

    Nicotinamide nucleotide transhydrogenase
    Hs.482043  [show with all ESTs]
    Unigene Representative Sequence: NM_012343
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000505678 ENST00000512422 ENST00000264663(uc003joe.3 uc003jof.3)
    ENST00000344920 ENST00000512996 ENST00000515208 ENST00000506893 ENST00000503651
    ENST00000513390 ENST00000503059
    miRNA
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    8/14 QIAGEN miScript miRNA Assays for microRNAs that regulate NNT (see all 14):
    hsa-miR-98 hsa-miR-607 hsa-let-7d hsa-miR-561 hsa-let-7c hsa-miR-138-2* hsa-let-7i hsa-let-7e
    SwitchGear 3'UTR luciferase reporter plasmidNNT 3' UTR sequence
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    Additional mRNA sequence: 

    AK096668.1 AK297558.1 AK299622.1 AL831822.2 BC032370.1 BC064402.1 BC110543.1 BC110544.1 
    U40490.1 Z50101.1 

    14 DOTS entries:

    DT.100789273  DT.452955  DT.216226  DT.100742601  DT.121640813  DT.100041792  DT.102835370  DT.75145435 
    DT.75186203  DT.101962524  DT.120830623  DT.91772466  DT.95276901  DT.91772469 

    24/264 AceView cDNA sequences (see all 264):

    AI583593 AI653018 AI520821 F07388 CD107845 AW001598 AA970709 AI300088 
    AI818518 BQ639542 AI371022 BF434034 BQ029592 BU428689 AV687897 BM664805 
    Z40449 AI796146 CB162277 BX344848 BM973965 AI337362 AL045135 BG569411 

    GeneLoc Exon Structure


    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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


    NNT expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/11 selected tissues (see all 11) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 5 entries
             cavities and their linings/intraembryonic coelom/diaphragm   
     
     Limb (Muscoskeletal System)    fully expand to see all 4 entries
             limb/hindlimb   
     
     Lung (Respiratory System)    fully expand to see all 2 entries
             visceral organ/lung/right lung   
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 2 entries
             visceral organ   
     
     Heart (Cardiovascular System)
             mouse/organ system/cardiovascular system   

    See NNT Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NNT

    SOURCE GeneReport for Unigene cluster: Hs.482043

    UniProtKB/Swiss-Prot: NNTM_HUMAN, Q13423
    Tissue specificity: Widely expressed with expression most readily detectable in adrenal, heart, kidney, thyroid
    and adipose tissues

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NNT

    (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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for NNT gene from 6/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nnt5 nicotinamide nucleotide transhydrogenase   --   13 (67.21 cM) 119335448 
    chicken
    (Gallus gallus)
    Aves NNT1 nicotinamide nucleotide transhydrogenase 78.53(n)
    88.66(a)
      427196  XM_003642936.1  XP_003642984.1 
    lizard
    (Anolis carolinensis)
    Reptilia NNT6
    --
    Uncharacterized protein
    90(a)
    81(a)
    1 ↔ 1
    possible ortholog
    2(5939493-5998221)
    GL343506.1(80034-127533)
    zebrafish
    (Danio rerio)
    Actinopterygii CF997412.12   -- 76.25(n)   387008  CF997412.1 
    mosquito
    (Anopheles gambiae)
    Insecta AgaP_AGAP0031671 AGAP003167-PA 61.55(n)
    66.93(a)
      1273837  XM_312859.4  XP_312859.4 
    worm
    (Caenorhabditis elegans)
    Secernentea nnt-11 , 3 NAD(P) transhydrogenase, mitochondrial3
    Protein NNT-11
    61(a)3
    59.75(n)1
    63.54(a)1
      X(6157591-6162719)3
    1808841  NM_076627.21  NP_509028.11 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2144 SNPs in NNT are shown (see all 2144)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0687864
    Glucocorticoid deficiency 4 (GCCD4)4--see VAR_0687862 G R mis40--------
    VAR_0687844
    Glucocorticoid deficiency 4 (GCCD4)4--see VAR_0687842 P L mis40--------
    VAR_0687894
    Glucocorticoid deficiency 4 (GCCD4)4--see VAR_0687892 L P mis40--------
    VAR_0687834
    Glucocorticoid deficiency 4 (GCCD4)4--see VAR_0687832 H P mis40--------
    VAR_0687904
    Glucocorticoid deficiency 4 (GCCD4)4--see VAR_0687902 A P mis40--------
    VAR_0687824
    Glucocorticoid deficiency 4 (GCCD4)4--see VAR_0687822 T A mis40--------
    VAR_0687884
    Glucocorticoid deficiency 4 (GCCD4)4--see VAR_0687882 G D mis40--------
    VAR_0687814
    Glucocorticoid deficiency 4 (GCCD4)4--see VAR_0687812 S N mis40--------
    VAR_0687854
    Glucocorticoid deficiency 4 (GCCD4)4--see VAR_0687852 A V mis40--------
    VAR_0687914
    Glucocorticoid deficiency 4 (GCCD4)4--see VAR_0687912 N K mis40--------

    HapMap Linkage Disequilibrium report for NNT (43602791 - 43707507 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for NNT:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv830275CNV Gain17160897
    dgv6043n71CNV Gain21882294


    Human Gene Mutation Database (HGMD): NNT
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing NNT
    DNA2.0 Custom Variant and Variant Library Synthesis for NNT

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 607878    OMIM disorders: --

    UniProtKB/Swiss-Prot: NNTM_HUMAN, Q13423
  • Glucocorticoid deficiency 4 (GCCD4) [MIM:614736]: A rare, potentially lethal, autosomal recessive
    disorder characterized by resistance to ACTH action on the adrenal cortex, adrenal insufficiency and an inability
    of the adrenal cortex to produce cortisol. It usually presents in the neonatal period or in early childhood with
    episodes of hypoglycemia and other symptoms related to cortisol deficiency, including failure to thrive,
    recurrent illnesses or infections, convulsions, and shock. In a small number of patients hypoglycemia can be
    sufficiently severe and persistent that it leads to serious long-term neurological damage or death. The diagnosis
    is readily confirmed with a low plasma cortisol measurement in the presence of an elevated ACTH level, and normal
    aldosterone and plasma renin measurements. Note=The disease is caused by mutations affecting the gene represented
    in this entry

  • 6 diseases for NNT:    About MalaCards
    familial glucocorticoid deficiency    glucose intolerance    tuberculosis    hypoglycemia
    obesity    thyroiditis

    1 disease from the University of Copenhagen DISEASES database for NNT:
    Glucose intolerance

    NNT for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for NNT gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glucose intolerance 55.3 3 16766189 (1), 19815054 (1)
    tuberculosis 7.29 2 9661660 (1), 8439307 (1)

    Genetic Association Database (GAD): NNT
    Human Genome Epidemiology (HuGE) Navigator: NNT (1 document)

    Export disorders for NNT 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)
    About This Section

    PubMed articles for NNT gene, integrated from 9 sources (see all 52):
    (articles sorted by number of sources associating them with NNT)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and deduced amino acid sequence of human nicotinamide nucleotide transhydrogenase. (PubMed id 9524818)1, 2, 3, 9 Zieger B. and Ware J. (1997)
    2. The cDNA sequence of proton-pumping nicotinamide nucleotide transhydrogenase from man and mouse. (PubMed id 8616157)1, 2, 9 Lagberg E.M.... Rydstrom J. (1996)
    3. Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency. (PubMed id 22634753)1, 2 Meimaridou E.... Metherell L.A. (2012)
    4. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    5. 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. (2004)
    6. The high-resolution structure of the NADP(H)-binding component (dIII) of proton-translocating transhydrogenase from human heart mitochondria. (PubMed id 10673423)1, 2 White S.A....Jackson J.B. (2000)
    7. Mapping of the rat and mouse nicotinamide nucleotide transhydrogenase gene. (PubMed id 9271681)1, 3 Arkblad E.L....Rydstrom J. (1997)
    8. Oxidative modification of nicotinamide nucleotide transhydrogenase in submitochondrial particles: effect of endogenous ubiquinol. (PubMed id 8951041)1, 9 Forsmark-Andree P....Ernster L. (1996)
    9. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    10. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    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)
    About This Section
    Entrez Gene: 23530 HGNC: 7863 AceView: NNT Ensembl:ENSG00000112992 euGenes: HUgn23530
    ECgene: NNT Kegg: 23530 H-InvDB: NNT

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for NNT Pharmacogenomics, SNPs, Pathways

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

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



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