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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

NDUFS4 Gene

protein-coding GIFtS: 63
GCID: GC05P052892

NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme...

(Previous name: NADH dehydrogenase (ubiquinone) Fe-S protein 4 (18kD) (NADH-coenzyme...)

Explore 75 diseases affiliated with
NDUFS4 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
NADH Dehydrogenase (Ubiquinone) Fe-S Protein 4, 18kDa (NADH-Coenzyme Q Reductase)¹ ²		NADH-Ubiquinone Oxidoreductase 18 KDa Subunit² ³
AQDQ¹ ² ⁵		NADH Dehydrogenase (Ubiquinone) Fe-S Protein 4 (18kD) (NADH-Coenzyme Q Reductase)¹
CI-18¹ ²		Complex I 18kDa Subunit²
Complex I-18 KDa² ³		Mitochondrial Respiratory Chain Complex I (18-KD Subunit)²
Complex I-AQDQ² ³		NADH Dehydrogenase (Ubiquinone) Iron-Sulfur Protein 4²
CI-AQDQ² ³		NADH Dehydrogenase [Ubiquinone] Iron-Sulfur Protein 4, Mitochondrial²
CI-18 KDa² ³		NADH-Coenzyme Q Reductase, 18-KD²

External Ids:	HGNC: 7711¹	Entrez Gene: 4724²	Ensembl: ENSG00000164258⁷	OMIM: 602694⁵	UniProtKB: O43181³

Export aliases for NDUFS4 gene to outside databases

Previous GC identifers: GC05P053020 GC05P054286 GC05P052826 GC05P052872 GC05P049829

(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 NDUFS4:

This gene encodes an accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I),

or NADH:ubiquinone oxidoreductase, the first multi-subunit enzyme complex of the mitochondrial respiratory chain.

Complex I plays a vital role in cellular ATP production, the primary source of energy for many crucial processes in

living cells. It removes electrons from NADH and passes them by a series of different protein-coupled redox centers to

the electron acceptor ubiquinone. In well-coupled mitochondria, the electron flux leads to ATP generation via the

building of a proton gradient across the inner membrane. Complex I is composed of at least 41 subunits, of which 7 are

encoded by the mitochondrial genome and the remainder by nuclear genes. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: NDUS4_HUMAN, O43181

Function: Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is

believed not to be involved in 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

Gene Wiki entry for NDUFS4

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000005.9 NC_018916.1 NT_006713.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the NDUFS4 gene promoter:
TBP MyoD POU3F2 (N-Oct-5a) POU3F2 (N-Oct-5b) POU3F2 C/EBPalpha GATA-2 CHOP-10 Nkx6-1 TFIID
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: NDUFS4 promoter sequence

Search SABiosciences Chromatin IP Primers for NDUFS4

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NDUFS4

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

Entrez Gene cytogenetic band: 5q11.1 Ensembl cytogenetic band: 5q11.2 HGNC cytogenetic band: 5q11.1

NDUFS4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NDUFS4 gene location

GeneLoc information about chromosome 5 GeneLoc Exon Structure

GeneLoc location for GC05P052892: view genomic region (about GC identifiers)

Start:	52,856,463 bp from pter	End:	52,979,171 bp from pter
Size:	122,709 bases	Orientation:	plus strand

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

UniProtKB/Swiss-Prot: NDUS4_HUMAN, O43181 (See protein sequence)

Recommended Name: NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial precursor

Size: 175 amino acids; 20108 Da

Subunit: Mammalian complex I is composed of 45 different subunits. This is a component of the iron-sulfur (IP) fragment

of the enzyme

Subcellular location: Mitochondrion inner membrane; Peripheral membrane protein; Matrix side

Secondary accessions: Q9BS69

Explore the universe of human proteins at neXtProt for NDUFS4: NX_O43181

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_O43181

NDUFS4 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_002486.1

ENSEMBL proteins:

ENSP00000424993 ENSP00000422177 ENSP00000296684 ENSP00000425967 ENSP00000424570

Reactome Protein details: O43181
Human Recombinant Protein Products:

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	Uscn Proteins for NDUFS4

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005739	mitochondrion	IDA	--
GO:0005743	mitochondrial inner membrane	TAS	--
GO:0005747	mitochondrial respiratory chain complex I	IMP	16478720
GO:0045271	respiratory chain complex I	--	--

NDUFS4 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for NDUFS4

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

NDUFS4 for domains About GeneDecksing

1 InterPro domain/family:

IPR006885 NADH_UbQ_FeS_4_mit

Graphical View of Domain Structure for InterPro Entry O43181

ProtoNet protein and cluster: O43181

1 Blocks protein family: IPB006885 ETC complex I subunit conserved region

UniProtKB/Swiss-Prot: NDUS4_HUMAN, O43181

Similarity: Belongs to the complex I NDUFS4 subunit family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: NDUS4_HUMAN, O43181

Function: Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is

believed not to be involved in 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

Genatlas biochemistry entry for NDUFS4:

NADH ubiquitine dehydrogenase (Q reductase),18kDa,component of complex I multi-subunit enzyme of the oxidative

phosphorylation (OXPHOS),iron-sulfur protein 4,extrinsic domain,mitochondrial

miRNA Products:		OriGene 3'-UTR Clone: NDUFS4 Browse MicroRNA Expression Plasmids
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		hsa-miR-548m hsa-miR-27a hsa-miR-128 hsa-miR-3681* hsa-miR-27b
		SwitchGear 3'UTR luciferase reporter plasmid: NDUFS4 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for NDUFS4 (see all 7) OriGene shRNA RFP: NDUFS4 OriGene siRNA: NDUFS4
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NDUFS4

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0008137	contributes to NADH dehydrogenase (ubiquinone) activity	IMP	16870178
GO:0016651	oxidoreductase activity, acting on NAD(P)H	--	--

NDUFS4 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for NDUFS4:

Synthetic lethal with Ras

Animal Models:
Mouse knock-out Ndufs4^tm1.1Rpa for NDUFS4
15 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Ndufs4):

behavior/neurological	cardiovascular system	cellular	growth/size	hematopoietic system
homeostasis/metabolism	immune system	integument	mortality/aging	muscle
nervous system	normal	respiratory system	skeleton	vision/eye

NDUFS4 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.

8/9 pathways (see all 9)
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.	1.00	Parkinson's disease	0.61
Respiratory electron transport	0.81	Oxidative phosphorylation	0.52
Electron Transport Chain	0.76	Alzheimer's disease	0.43
The citric acid (TCA) cycle and respiratory electron transport	0.72	Huntington's disease	0.40

Metabolism

Metabolism

1.00

Metabolic pathways

0.38

Metformin Pathway, Pharmacodynamic

Metformin Pathway, Pharmacodynamic

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

2 BioSystems Pathways for NDUFS4

	Oxidative phosphorylation
	Electron Transport Chain

4 Reactome Pathways for NDUFS4

	Respiratory electron transport
	Metabolism
	Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
	The citric acid (TCA) cycle and respiratory electron transport

1 PharmGKB Pathway for NDUFS4

Metformin Pathway, Pharmacodynamic

5 Kegg Pathways (Kegg details for NDUFS4):

	Oxidative phosphorylation
	Metabolic pathways
	Alzheimer's disease
	Parkinson's disease
	Huntington's disease

NDUFS4 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for NDUFS4

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

5/61 Interacting proteins for NDUFS4 (O43181³ ENSP00000296684⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 61)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
NDUFA2	O43678³, ENSP00000252102⁴	I2D: score=1 STRING: ENSP00000252102
STAT5B	P51692³	I2D: score=3
NDUFC1	ENSP00000377770⁴	STRING: ENSP00000377770 STRING: ENSP00000265500
CYC1	ENSP00000317159⁴	STRING: ENSP00000317159
ENSG00000267059	ENSP00000262946⁴	STRING: ENSP00000262946

About this table

Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001932	regulation of protein phosphorylation	IMP	11165261
GO:0006120	mitochondrial electron transport, NADH to ubiquinone	NAS	9878551
GO:0007420	brain development	IMP	14765537
GO:0019933	cAMP-mediated signaling	IMP	11181577
GO:0022900	electron transport chain	--	--

NDUFS4 for ontologies About GeneDecksing

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

NDUFS4 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for NDUFS4

8 HMDB Compounds for NDUFS4 About this table

Compound	Synonyms	CAS #	PubMed Ids
FAD	1H-Purin-6-amine flavin dinucleotide (see all 21)	146-14-5	--
Iron	Armco iron (see all 19)	7439-89-6	--
NAD	3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)	53-84-9	--
NADH	1,4-Dihydronicotinamide adenine dinucleotide (see all 17)	58-68-4	--
QH2	CoQH2 (see all 5)	56275-39-9	--
Sulfide	Sulfide (see all 4)	18496-25-8	--
Ubiquinone Q1	Coenzyme Q (see all 9)	727-81-1	--
Ubiquinone Q2	2-(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 NDUFS4 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
NADH	beta-DPNH (see all 18)	606-68-8	target	--	11181577 17139284 17016423 11864782 11860175

10/62 Novoseek chemical compound relationships for NDUFS4 gene (see all 62) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
rotenone	92.4	77	15581661 (2), 12496265 (2), 16004991 (2), 14598303 (2) (see all 68)
1 methyl 4 phenylpyridinium	81.4	22	12428729 (2), 10517700 (2), 8197193 (1), 10198232 (1) (see all 14)
nadh	74.8	9	16828051 (1), 17274529 (1), 16001080 (1), 1747428 (1) (see all 8)
mptp	73.2	30	15132975 (2), 8197193 (1), 19526288 (1), 11909981 (1) (see all 19)
annonacin	72.7	2	18816693 (1), 14675150 (1)
squamocin	70.8	2	16489765 (2)
ubiquinone	64.8	10	11032411 (2), 8546703 (2), 9195916 (2), 17894548 (1) (see all 7)
thenoyltrifluoroacetone	62.1	3	15111504 (1), 15845907 (1)
succinate	55.8	4	12665464 (1), 19605638 (1), 10222114 (1), 19821037 (1)
dopamine	54.2	20	15130772 (2), 10517700 (2), 15715660 (1), 17018646 (1) (see all 15)

Search CenterWatch for drugs/clinical trials and news about NDUFS4 / NDUS4

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 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,
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, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for NDUFS4 gene:

NM_002495.2

Unigene Cluster for NDUFS4:

NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)

Hs.528222 [show with all ESTs]

Unigene Representative Sequence: AB062482

6 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000507026 ENST00000502423 ENST00000296684(uc003jpe.2) ENST00000506974

ENST00000506765 ENST00000509443

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		hsa-miR-548m hsa-miR-27a hsa-miR-128 hsa-miR-3681* hsa-miR-27b
		SwitchGear 3'UTR luciferase reporter plasmid: NDUFS4 3' UTR sequence

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NDUFS4

Additional cDNA sequence:

AB062482.1 AF020351.1 AK307973.1 BC005270.1

5 DOTS entries:

DT.118587 DT.92440823 DT.95182086 DT.86846502 DT.95216288

24/269 AceView cDNA sequences (see all 269):

AI868059 AA041487 BM314367 BF222274 BM720469 BU785937 CB070307 BM314680

AA345611 CB070366 N42175 BM728071 BI090864 W80680 BU581389 BU741187

BF448735 BE883556 BG202920 BQ668834 CB992742 W49679 AV701971 BM855596

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

NDUFS4 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TATAATAAAT

About this image

NDUFS4 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Gut Tube

Ventral Foregut Endoderm

Gut Tube

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See NDUFS4 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for NDUFS4

SOURCE GeneReport for Unigene cluster: Hs.528222

SABiosciences Expression via Pathway-Focused PCR Array including NDUFS4:

Mitochondrial Energy Metabolism in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NDUFS4

(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 eukaryotes.

Orthologs for NDUFS4 gene from 9/28 species (see all 28) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Ndufs4^{1 , 5}	NADH dehydrogenase (ubiquinone) Fe-S protein 4^{1, 5}	88.19(n)¹ 88(a)¹		13 (64.12 cM)⁵ 17993¹ NM_010887.2¹ NP_035017.2¹ 114287795⁵
chicken (Gallus gallus)	Aves	NDUFS4¹	NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa more	81.07(n) 82.84(a)		374122 XM_424788.3 XP_424788.3
lizard (Anolis carolinensis)	Reptilia	NDUFS4⁶	--	89(a)	1 ↔ 1	2(3184519-3236104)
African clawed frog (Xenopus laevis)	Amphibia	48054550²	--	85.5(n)		48054550
zebrafish (Danio rerio)	Actinopterygii	CK396558.1²	--	76.99(n)		CK396558.1
fruit fly (Drosophila melanogaster)	Insecta	CG12203¹	CG12203	54.2(n) 56.1(a)		32936 NM_133157.2 NP_573385.1
worm (Caenorhabditis elegans)	Secernentea	lpd-5¹	Protein LPD-5	51.69(n) 50(a)		172037 NM_058958.5 NP_491359.2
thale cress (Arabidopsis thaliana)	eudicotyledons	FRO1¹	NADH dehydrogenase (ubiquinone) Fe-S protein 4	51.17(n) 40.85(a)		836895 NM_126159.3 NP_201560.1
rice (Oryza sativa)	Liliopsida	Os07g0585800¹	hypothetical protein	52.83(n) 48.11(a)		4343746 NM_001066661.1 NP_001060126.1

ENSEMBL Gene Tree for NDUFS4 (if available)
TreeFam Gene Tree for NDUFS4 (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, UniProtKB, 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)
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SNP ID	Valid	Clinical significance	Chr 5 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs104893898^1,2	C	pathogenic	49914818(+)	`GAGAGC/TGATGG`	2	R *	stg¹		0	--	--	--	--
rs75500092^1,2	F,	--	49827769(+)	`AACTTG/AGATGG`	1	--	us2k¹		1		WA	118
rs75774230^1,2	F,	--	49828375(+)	`TGCTTA/CATTTT`	1	--	us2k¹		1		WA	118
rs6888501^1,2	C,F,H,	--	49828957(+)	`TTGTAA/TAACAC`	1	--	us2k¹		5		NS EA WA	538
rs104893899^1,2	C	--	49829263(+)	`GTTGTA/GGCGGA`	2	* W	stg¹		0	--	--	--	--
rs60419326^1,2	C,	--	49830517(+)	`GATGTT/ATGTAA`	1	--	int¹		1		WA	2
rs7722890^1,2	C,	--	49831702(+)	`atggcG/Atgaac`	1	--	int¹		1		WA	2
rs4865776^1,2	A	--	49831791(+)	`aaaaaA/Ccaaaa`	1	--	int¹		0	--	--	--	--
rs62370552^1,2		--	49832076(+)	`TTTTGC/G/TAGATG`	1	--	int¹		1		NA	2
rs75348640^1,2	C,	--	49833168(+)	`CTTGGC/TTCATG`	1	--	int¹		1		WA	2

HapMap Linkage Disequilibrium report for NDUFS4 (52856463 - 52979171 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for NDUFS4
1 Inversion: 59811
Human Gene Mutation Database (HGMD): NDUFS4

SABiosciences Cancer Mutation 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.)
About This Section

NDUFS4 for disorders           About GeneDecksing

OMIM gene information: 602694
OMIM disorders: 256000  252010
UniProtKB/Swiss-Prot: NDUS4_HUMAN, O43181

Defects in NDUFS4 are a cause of mitochondrial complex I deficiency (MT-C1D) [MIM:252010]. A disorder of the

mitochondrial respiratory chain that causes a wide range of clinical disorders, from lethal neonatal disease to

adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific

encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some

forms of Parkinson disease

20/75 diseases for NDUFS4 (see all 75): About MalaCards

charcot-marie-tooth disease landau-kleffner syndrome leber hereditary optic neuropathy fatal infantile lactic acidosis

mitochondrial complex i deficiency spinal muscular atrophy supranuclear palsy leigh-like syndrome

mitochondrial encephalomyopathy cerebellar ataxia and hypogonadotropic hypogonadism lactic acidosis progressive supranuclear palsy

temporal lobe epilepsy muscular atrophy type 2 diabetes mellitus focal dystonia

autism spectrum disorder cerebellar ataxia encephalomyopathy hemometra

1 disease from the University of Copenhagen DISEASES database for NDUFS4:

Leigh disease

10/34 Novoseek disease relationships for NDUFS4 gene (see all 34) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
mitochondrial complex i deficiency	97.4	41	1396914 (2), 11743516 (2), 8319712 (2), 15608010 (2) (see all 37)
parkinson disease	80.9	56	17023271 (2), 17184173 (2), 1347219 (2), 12911637 (2) (see all 51)
leigh syndrome	80.2	9	19364667 (2), 14729820 (1), 15824269 (1), 16996290 (1) (see all 8)
mitochondrial diseases	77.8	4	16996407 (1), 18826940 (1), 19348886 (1), 15925774 (1)
lebers hereditary optic neuropathy	75.7	7	17894548 (1), 8644732 (1), 11117434 (1), 15483043 (1) (see all 7)
parkinsonism	69.4	13	11912113 (1), 19326700 (1), 9671546 (1), 11149904 (1) (see all 12)
neurodegenerative diseases	62.1	5	18685029 (1), 19255735 (1), 16365298 (1), 1606472 (1) (see all 5)
neurodegeneration	61.4	10	15581661 (1), 9852566 (1), 17274529 (1), 20307667 (1) (see all 10)
acidosis lactic	53.4	5	1396914 (1), 1792871 (1), 14662656 (1), 10393702 (1) (see all 5)
supranuclear palsy progressive	52.7	2	18464278 (1), 16919272 (1)

Genatlas disease: NDUFS4

mitochondrial encephalomyopathy,characterized by vomiting,failure to thrive,hypotonia,fatal progressive evolution with

normal muscle morphology and without increased lactate concentration

Human Genome Epidemiology (HuGE) Navigator: NDUFS4 (6 documents)

Export disorders for NDUFS4 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 NDUFS4 gene, integrated from 9 sources (see all 390):
(articles sorted by number of sources associating them with NDUFS4)

Utopia: connect your pdf to the dynamic
world of online information

Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit. (PubMed id 9463323)^{1, 2, 3, 9} van den Heuvel L....Smeitink J. (1998)
A nonsense mutation in the NDUFS4 gene encoding the 18 kDa (AQDQ) subunit of complex I abolishes assembly and activity of the complex in a patient with Leigh-like syndrome. (PubMed id 11181577)^{1, 7, 9} Petruzzella V....Papa S. (2001)
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)
The subunit composition of the human NADH dehydrogenase obtained by rapid one-step immunopurification. (PubMed id 12611891)^{1, 2} Murray J.... Capaldi R.A. (2003)
The NADH: ubiquinone oxidoreductase (complex I) of the mammalian respiratory chain and the cAMP cascade. (PubMed id 11860175)^{1, 7} Papa S....Signorile A. (2002)
Intron based radiation hybrid mapping of 15 complex I genes of the human electron transport chain. (PubMed id 9763677)^{1, 3} Emahazion T....Brookes A.J. (1998)
cAMP-dependent protein kinase regulates the mitochondrial import of the nuclear encoded NDUFS4 subunit of complex I. (PubMed id 18291624)^{1, 9} De Rasmo D....Papa S. (2008)
Mutations in the NDUFS4 gene of mitochondrial complex I alter stability of the splice variants. (PubMed id 15975579)^{1, 9} Petruzzella V....Papa S. (2005)
NDUFS4 mutations cause Leigh syndrome with predominan t brainstem involvement. (PubMed id 19364667)^{1, 9} Leshinsky-Silver E....Lerman-Sagie T. (2009)
Dysfunctions of cellular oxidative metabolism in patients with mutations in the NDUFS1 and NDUFS4 genes of complex I. (PubMed id 16478720)^{1, 9} Iuso A....Papa S. (2006)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
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Query String		PubMed OMIM 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: 4724	HGNC: 7711	AceView: NDUFS4	Ensembl:ENSG00000164258	euGenes: HUgn4724
ECgene: NDUFS4	Kegg: 4724	H-InvDB: NDUFS4

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for NDUFS4	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/NDUFS4

Intellectual Property for NDUFS4 gene
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Patent Information for NDUFS4 gene:
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GeneCards and IP:
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NDUFS4 Gene

NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme...

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