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MT-ND4 Gene

protein-coding   GIFtS: 46
GCID: GCMTP010762

Mitochondrially Encoded NADH Dehydrogenase 4

(Previous names: NADH dehydrogenase 4, Leber optic neuropathy)
(Previous symbols: MTND4, LHON)
  See MT-ND4-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
Mitochondrially Encoded NADH Dehydrogenase 41     Complex I ND4 Subunit1
MTND41 2 3     Leber Optic Neuropathy1
ND42 3     NADH Dehydrogenase 41
NADH Dehydrogenase Subunit 42 3     NADH-Ubiquinone Oxidoreductase Chain 41
EC 1.6.5.33 8     NADH Dehydrogenase, Subunit 4 (Complex I)2
LHON1     NADH43

External Ids:    HGNC: 74591   Entrez Gene: 45382   Ensembl: ENSG000001988867   OMIM: 5160035   UniProtKB: P039053   

Export aliases for MT-ND4 gene to outside databases

Previous GC identifer: GC00U921590


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for MT-ND4 Gene:
MT-ND4 (mitochondrially encoded NADH dehydrogenase 4) is a protein-coding gene. Diseases associated with MT-ND4 include leber hereditary optic neuropathy, and leber hereditary optic neuropathy with dystonia.

UniProtKB/Swiss-Prot: NU4M_HUMAN, P03905
Function: Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is
believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of
electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be
ubiquinone (By similarity)

Gene Wiki entry for MT-ND4 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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Regulatory elements:
   Search for regulatory transcription factor binding sites for MT-ND4
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for MT-ND4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MT-ND4


Genomic Location:
Chromosome:MT   

Ensembl cytogenetic band:  MT   HGNC chromosome: mitochondria

GeneLoc information about chromosome MT         GeneLoc Exon Structure

GeneLoc location for GCMTP010762:       (about GC identifiers)

Start:
10,760 bp from pter      End:
12,137 bp from pter
Size:
1,378 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: NU4M_HUMAN, P03905 (See protein sequence)
Recommended Name: NADH-ubiquinone oxidoreductase chain 4  
Size: 459 amino acids; 51581 Da
Secondary accessions: Q6RL39 Q6RQN9 Q8HNR8

Explore the universe of human proteins at neXtProt for MT-ND4: NX_P03905

Explore proteomics data for MT-ND4 at MOPED

Selected DME Specific Peptides for MT-ND4 (P03905) (see all 31)
 WWLLASL  YFLFYTL  LMIAHGL  MIWINTT 


See MT-ND4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB


ENSEMBL proteins: 
 ENSP00000354961  
Reactome Protein details: P03905

MT-ND4 Human Recombinant Protein Products:

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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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HGNC Gene Families:
comI: Mitochondrial respiratory chain complex / Complex I

4 InterPro protein domains:
 IPR010227 NADH_Q_OxRdtase_chainM/4
 IPR003918 NADH_UbQ_OxRdtase
 IPR001750 NADH_UbQ/plastoQ_OxRdtase
 IPR000260 NADH_UbQ_OxRdtase_chain4_N

Graphical View of Domain Structure for InterPro Entry P03905

ProtoNet protein and cluster: P03905

1 Blocks protein domain: IPB003918 NADH-ubiquinone oxidoreductase subunit 4 signature

UniProtKB/Swiss-Prot: NU4M_HUMAN, P03905
Similarity: Belongs to the complex I subunit 4 family


Find genes that share domains with MT-ND4           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: NU4M_HUMAN, P03905
Function: Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is
believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of
electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be
ubiquinone (By similarity)
Catalytic activity: NADH + ubiquinone + 5 H(+)(In) = NAD(+) + ubiquinol + 4 H(+)(Out)

     Enzyme Number (IUBMB): EC 1.6.5.31 2

     Gene Ontology (GO): 1 molecular function term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0008137NADH dehydrogenase (ubiquinone) activity ----
     
Find genes that share ontologies with MT-ND4           About GenesLikeMe


Phenotypes:
     1 GenomeRNAi human phenotype for MT-ND4:
 Increased gamma-H2AX phosphory 

Animal Models:
   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MT-ND4
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   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MT-ND4
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miRNA
Products:
    
miRTarBase miRNAs that target MT-ND4:
hsa-mir-196a-5p (MIRT048266), hsa-let-7f-5p (MIRT051369), hsa-mir-296-3p (MIRT038401), hsa-mir-320a (MIRT044452), hsa-mir-455-3p (MIRT037806), hsa-let-7b-5p (MIRT051935), hsa-mir-17-5p (MIRT050806), hsa-let-7e-5p (MIRT051479), hsa-let-7c-5p (MIRT051789), hsa-mir-652-3p (MIRT039502)

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Cell Line
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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MT-ND4


(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
NU4M_HUMAN, P03905: Mitochondrion membrane; Multi-pass membrane protein (By similarity)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
mitochondrion5
plasma membrane3
nucleus2
endoplasmic reticulum1
golgi apparatus1

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

GO IDQualified GO termEvidencePubMed IDs
GO:0005739mitochondrion ----
GO:0005743mitochondrial inner membrane ----
GO:0005747mitochondrial respiratory chain complex I ----
GO:0016021integral component of membrane ----

Find genes that share ontologies with MT-ND4           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 MT-ND4 About    
See pathways by source

SuperPathContained pathways About
1Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.0.81
Oxidative phosphorylation0.64
Respiratory electron transport0.81
Parkinson's disease0.57
Electron Transport Chain0.75
Oxidative phosphorylation0.51
The citric acid (TCA) cycle and respiratory electron transport0.71
2Metabolism
Metabolism0.38
Metabolic pathways0.38


Find genes that share SuperPaths with MT-ND4           About GenesLikeMe

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways


2 BioSystems Pathways for MT-ND4
    Oxidative phosphorylation
Electron Transport Chain

1 Reactome Pathway for MT-ND4
    Respiratory electron transport


3 Kegg Pathways  (Kegg details for MT-ND4):
    Oxidative phosphorylation
Metabolic pathways
Parkinson's disease

    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MT-ND4
Interactions:

    Search GeneGlobe Interaction Network for MT-ND4

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

Selected Interacting proteins for MT-ND4 (P039053 ENSP000003549614) via UniProtKB, MINT, STRING, and/or I2D (see all 64)
InteractantInteraction Details
GeneCardExternal ID(s)
APCP250543, ENSP000002574304I2D: score=2 STRING: ENSP00000257430
NDUFA2O436783, ENSP000002521024I2D: score=1 STRING: ENSP00000252102
SP1P080473, ENSP000003293574I2D: score=1 STRING: ENSP00000329357
GRB2P629933, ENSP000003390074I2D: score=3 STRING: ENSP00000339007
MAXP612443I2D: score=2 
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Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006120mitochondrial electron transport, NADH to ubiquinone ----
GO:0022904respiratory electron transport chain ----
GO:0042773ATP synthesis coupled electron transport ----
GO:0044237cellular metabolic process ----
GO:0044281small molecule metabolic process ----

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(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 MT-ND4 (NU4M)

9 HMDB Compounds for MT-ND4    About this table
CompoundSynonyms CAS #PubMed Ids
FAD1H-Purin-6-amine flavin dinucleotide (see all 21)146-14-5--
IronArmco iron (see all 19)7439-89-6--
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--
QH2CoQH2 (see all 5)56275-39-9--
SulfideSulfide (see all 4)18496-25-8--
Ubiquinol 8ubiquinol-8 (see all 2)56275-39-9--
Ubiquinone Q1Coenzyme Q (see all 9)727-81-1--
Ubiquinone Q22-(3,7-dimethyl-2,6-octadienyl)-5,6-dimethoxy-3-methyl-2,5-Cyclohexadiene-1,4-dione (see all 7)606-06-4--

1 DrugBank Compound for MT-ND4    About this table
CompoundSynonyms CAS #TypeActionsPubMed Ids
NADHbeta-DPNH (see all 18)606-68-8target--9950599 17139284 15560738 17016423 7846157

Selected Novoseek inferred chemical compound relationships for MT-ND4 gene (see all 12)    About this table
Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
nadh 77.9 26 9950599 (1), 11163447 (1), 10491287 (1), 10916295 (1) (see all 18)
ubiquinone 57.3 1 10447460 (1)
isoleucine 48.7 4 12271374 (2), 8644732 (1), 17300996 (1)
galactose 36.8 1 17518546 (1)
nad+ 35.3 3 9950599 (1), 20454697 (1), 15560738 (1)
atp 28.6 6 17518546 (1), 15639345 (1), 7533057 (1)
valine 21.3 2 8644732 (1), 17300996 (1)
succinate 21.3 1 8706709 (1)
threonine 19.5 2 12271374 (2)
pyruvate 10.3 1 8706709 (1)



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(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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1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000361381(uc004cov.4)
miRNA
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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™, 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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MT-ND4 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
MT-ND4 Expression
About this image

MT-ND4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

MT-ND4 Protein Expression
    Custom PCR Arrays for MT-ND4
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In Situ
Assay Products:
 

 
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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 animals.

Orthologs for MT-ND4 gene from Selected species (see all 16)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia mt-Nd45
ND41
mitochondrially encoded NADH dehydrogenase 45
ND41
67.76(n)1
67.25(a)1
  MT5
177191  ND4_345386071  NP_904337.11 
 101675 
chicken
(Gallus gallus)
Aves ND41 ND4 64.4(n)
59.87(a)
  807643  ND4_166240020  NP_006924.2 
lizard
(Anolis carolinensis)
Reptilia ND46
NADH dehydrogenase subunit 4 (mitochondrion)
57(a)
1 ↔ 1
MT(10090-11454)
African clawed frog
(Xenopus laevis)
Amphibia BI446936.12   -- 74.86(n)    BI446936.1 
zebrafish
(Danio rerio)
Actinopterygii ND41 ND4 61.29(n)
59.91(a)
  140534  ND4_8395621  NP_059340.1 
fruit fly
(Drosophila melanogaster)
Insecta ND41 ND4 50.18(n)
46.69(a)
  192476  ND4_5835242  NP_008285.1 
worm
(Caenorhabditis elegans)
Secernentea ND41 ND4 45.53(n)
34.38(a)
  2565705  ND4_5834890  NP_006960.1 


ENSEMBL Gene Tree for MT-ND4 (if available)
TreeFam Gene Tree for MT-ND4 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for MT-ND4 gene
3 SIMAP similar genes for MT-ND4 using alignment to 1 protein entry:     NU4M_HUMAN:
NADH4    ndh4    ND4

Find genes that share paralogs with MT-ND4           About GenesLikeMe


Selected Pseudogenes.org Pseudogenes for MT-ND4 (see all 48)
PGOHUM00000238407 PGOHUM00000238592 PGOHUM00000238594 PGOHUM00000242818 PGOHUM00000248428


(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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8 SNPs for MT-ND4    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr MT posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
VAR_0047604
Leber hereditary optic neuropathy (LHON)4--see VAR_0047602 R H mis40--------
VAR_0047594
Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS)4--see VAR_0047592 T A mis40--------
VAR_0083934
Leber hereditary optic neuropathy with dystonia (LDYT)4--see VAR_0083932 V I mis40--------
VAR_0086014
----see VAR_0086012 I T mis40--------
VAR_0085994
----see VAR_0085992 A P mis40--------
VAR_0645654
----see VAR_0645652 T A mis40--------
VAR_0086004
----see VAR_0086002 T P mis40--------
VAR_0086024
----see VAR_0086022 M T mis40--------

HapMap Linkage Disequilibrium report for MT-ND4 (10760 - 12137 bp)

Structural Variations
      Database of Genomic Variants (DGV) variations for MT-ND4: --
Human Gene Mutation Database (HGMD): MT-ND4
Site Specific Mutation Identification with PCR Assays
Search QIAGEN SeqTarget long-range PCR primers for resequencing MT-ND4
DNA2.0 Custom Variant and Variant Library Synthesis for MT-ND4

(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: 516003    OMIM disorders: --

UniProtKB/Swiss-Prot: NU4M_HUMAN, P03905
  • Leber hereditary optic neuropathy (LHON) [MIM:535000]: A maternally inherited disease resulting in acute
    or subacute loss of central vision, due to optic nerve dysfunction. Cardiac conduction defects and neurological
    defects have also been described in some patients. LHON results from primary mitochondrial DNA mutations
    affecting the respiratory chain complexes. Note=The disease is caused by mutations affecting the gene represented
    in this entry
  • Leber hereditary optic neuropathy with dystonia (LDYT) [MIM:500001]: Part of a spectrum of Leber
    hereditary optic neuropathy. It is characterized by the association of optic atrophy and central vision loss with
    dystonia. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS)
    [MIM:540000]: Genetically heterogeneous disorder, characterized by episodic vomiting, seizures, and recurrent
    cerebral insults resembling strokes and causing hemiparesis, hemianopsia, or cortical blindness. Note=The disease
    is caused by mutations affecting the gene represented in this entry

  • 15 diseases for MT-ND4:    
    About MalaCards
    leber hereditary optic neuropathy    leber hereditary optic neuropathy with dystonia    multicentric carpotarsal osteolysis syndrome    hereditary neuropathies
    porphyria cutanea tarda, type ii    optic neuritis    deafness, mitochondrial, modifier of    mitochondrial encephalomyopathy
    neuritis    melas syndrome    encephalomyopathy    leigh disease
    mitochondrial dna-associated leigh syndrome and narp    mitochondrial disorders    acute myeloid leukemia

    4 diseases from the University of Copenhagen DISEASES database for MT-ND4:
    Leber hereditary optic neuropathy     Optic atrophy     Leigh disease     Mitochondrial myopathy

    Find genes that share disorders with MT-ND4           About GenesLikeMe

    7 Novoseek inferred disease relationships for MT-ND4 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lebers hereditary optic neuropathy 95.3 12 1635296 (1), 8344246 (1), 17197509 (1), 8448903 (1) (see all 10)
    leigh syndrome 77.8 1 19349200 (1)
    optic neuropathy 52.4 1 17197509 (1)
    blindness 46.2 1 18771762 (1)
    visual loss 38.1 1 17300996 (1)
    acidosis lactic 33.6 1 8338207 (1)
    retinitis pigmentosa 31.4 1 8338207 (1)

    GeneTests: MT-ND4
    GeneReviews: MT-ND4
    Genetic Association Database (GAD): MT-ND4

    Export disorders for MT-ND4 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 MT-ND4 gene, integrated from 10 sources (see all 117):
    (articles sorted by number of sources associating them with MT-ND4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutation C11994T in the mitochondrial ND4 gene is not a cause of low sperm motility in Portugal. (PubMed id 17517394)1, 4 Pereira L....Bandelt H.J. (Fertil. Steril. 2008)
    2. [Prevalence and clinical characteristics of the A to G variant at position 12026 of the mitochondrial ND4 gene in familial diabetes mellitus in Chinese population]. (PubMed id 17160945)1, 4 Wang S.J....Lu H.J. (Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2006)
    3. Mitochondrial D-loop variation in leber hereditary neuropathy patients harboring primary G11778A, G3460A, T14484C mutations: J and W haplogroups as high-risk factors. (PubMed id 17045122)1, 4 Shafa Shariat Panahi M....Tabassi A.R. (Arch. Med. Res. 2006)
    4. A novel missense mutation C11994T in the mitochondrial ND4 gene as a cause of low sperm motility in the Indian subcontinent. (PubMed id 17069814)1, 4 Selvi Rani D....Thangaraj K. (Fertil. Steril. 2006)
    5. Mitochondrial DNA mutations with Leber's hereditary optic neuropathy in Japanese patients with open-angle glaucoma. (PubMed id 16604388)1, 4 Inagaki Y....Fukuchi T. (Jpn. J. Ophthalmol. 2006)
    6. [Clinical features and the mutation of Leber's hereditary optic neuropathy in Chinese patients]. (PubMed id 15952130)1, 4 Wang Y....Zhang Q.J. (Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2005)
    7. Mitochondrial DNA polymorphisms and risk of Parkinson's disease in Spanish population. (PubMed id 15975594)1, 4 Huerta C....Alvarez V. (J. Neurol. Sci. 2005)
    8. [Rapid genetic screening of Leber's hereditary optic neuropathy with mtDNA G11778A mutation by AS-PCR with whole blood]. (PubMed id 15840367)1, 4 Yang J.H....Chen Y.K. (Zhonghua Yan Ke Za Zhi 2005)
    9. [Study on the mitochondrial DNA mutations in patients with early-onset diabetes mellitus]. (PubMed id 15696471)1, 4 Yu D.M....Liu D.M. (Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2005)
    10. Lack of association between Leber's hereditary optic neuropathy primary point mutations and multiple sclerosis in Iran. (PubMed id 14671420)1, 4 Houshmand M....Lotfi J. (Eur. Neurol. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 4538 HGNC: 7459 Ensembl:ENSG00000198886 euGenes: HUgn4538 ECgene: MT-ND4 Kegg: 4538
    H-InvDB: MT-ND4

    (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)
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    NameDescription
    PharmGKB entry for MT-ND4 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=MT-ND4[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 MT-ND4 gene:
    Search GeneIP for patents involving MT-ND4

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



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