SDHA Gene (Protein Coding)

Succinate Dehydrogenase Complex Flavoprotein Subunit A

GC05P000208
GIFtS:
48
This gene encodes a major catalytic subunit of succinate-ubiquinone oxidoreductase, a complex of the mitochondrial respiratory chain. The complex is composed of four nuclear-encoded subunits and is localized in the mitochondrial inner membrane. Mutations in this gene have been associated with a form of mitochondrial respiratory chain deficiency known as Leigh Syndrome. A pseudo... See more...

Aliases for SDHA Gene

Aliases for SDHA Gene

  • Succinate Dehydrogenase Complex Flavoprotein Subunit A 2 3 5
  • Flavoprotein Subunit Of Complex II 2 3 4
  • Succinate Dehydrogenase [Ubiquinone] Flavoprotein Subunit, Mitochondrial 3 4
  • Succinate Dehydrogenase Complex, Subunit A, Flavoprotein (Fp) 2 3
  • SDH2 3 4
  • SDHF 3 4
  • Succinate Dehydrogenase Complex Subunit A, Flavoprotein (Fp) 2
  • Succinate Dehydrogenase [Ubiquinone] Flavoprotein Subunit 2
  • EC 1.3.5.1 4
  • CMD1GG 3
  • PGL5 3
  • SDH1 3
  • FP 3
  • Fp 4

External Ids for SDHA Gene

Previous HGNC Symbols for SDHA Gene

  • SDH2

Previous GeneCards Identifiers for SDHA Gene

  • GC05P000259
  • GC05P000271

Summaries for SDHA Gene

Entrez Gene Summary for SDHA Gene

  • This gene encodes a major catalytic subunit of succinate-ubiquinone oxidoreductase, a complex of the mitochondrial respiratory chain. The complex is composed of four nuclear-encoded subunits and is localized in the mitochondrial inner membrane. Mutations in this gene have been associated with a form of mitochondrial respiratory chain deficiency known as Leigh Syndrome. A pseudogene has been identified on chromosome 3q29. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]

GeneCards Summary for SDHA Gene

SDHA (Succinate Dehydrogenase Complex Flavoprotein Subunit A) is a Protein Coding gene. Diseases associated with SDHA include Mitochondrial Complex Ii Deficiency and Cardiomyopathy, Dilated, 1Gg. Among its related pathways are Citrate cycle (TCA cycle) and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and oxidoreductase activity, acting on the CH-CH group of donors. An important paralog of this gene is ENSG00000286001.

UniProtKB/Swiss-Prot Summary for SDHA Gene

  • Flavoprotein (FP) subunit of succinate dehydrogenase (SDH) that is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q) (PubMed:24781757). Can act as a tumor suppressor (PubMed:20484225).

Gene Wiki entry for SDHA Gene

Additional gene information for SDHA Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SDHA Gene

Genomics for SDHA Gene

GeneHancer (GH) Regulatory Elements for SDHA Gene

Promoters and enhancers for SDHA Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SDHA on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SDHA

Top Transcription factor binding sites by QIAGEN in the SDHA gene promoter:
  • ATF-2
  • Brachyury
  • CBF(2)
  • CUTL1
  • Evi-1
  • FOXD3
  • GATA-3
  • HOXA5
  • Ik-3
  • p53

Genomic Locations for SDHA Gene

Genomic Locations for SDHA Gene
chr5:218,223-264,816
(GRCh38/hg38)
Size:
46,594 bases
Orientation:
Plus strand
chr5:218,356-256,815
(GRCh37/hg19)
Size:
38,460 bases
Orientation:
Plus strand

Genomic View for SDHA Gene

Genes around SDHA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SDHA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SDHA Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for SDHA Gene

Proteins for SDHA Gene

Products:

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  • Protein details for SDHA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P31040-SDHA_HUMAN
    Recommended name:
    Succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial
    Protein Accession:
    P31040
    Secondary Accessions:
    • A8K5J6
    • B4DJ60
    • E9PBJ5
    • Q16395
    • Q59GW8
    • Q8IW48
    • Q9UMY5

    Protein attributes for SDHA Gene

    Size:
    664 amino acids
    Molecular mass:
    72692 Da
    Cofactor:
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Quaternary structure:
    • Component of complex II composed of four subunits: the flavoprotein (FP) SDHA, iron-sulfur protein (IP) SDHB, and a cytochrome b560 composed of SDHC and SDHD (By similarity). Interacts with SDHAF2/SDH5; interaction is required for FAD attachment (PubMed:19628817). Interacts with TRAP1 (PubMed:23747254).
    SequenceCaution:
    • Sequence=BAD92228.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=CAA37886.1; Type=Miscellaneous discrepancy; Note=Differs extensively from that shown.; Evidence={ECO:0000305};

    Alternative splice isoforms for SDHA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SDHA Gene

Protein Expression for SDHA Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for SDHA Gene

  • Phosphorylation at Tyr-215 is important for efficient electron transfer in complex II and the prevention of ROS generation.
  • Acetylated. Deacetylated by SIRT3.
  • Ubiquitination at Lys92, Lys179, Lys335, and Lys608
  • Modification sites at PhosphoSitePlus

Other Protein References for SDHA Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SDHA Gene

Domains & Families for SDHA Gene

Gene Families for SDHA Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for SDHA Gene

Blocks:
  • Fumarate reductase/succinate dehydrogenase, FAD-binding site
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SDHA Gene

GenScript: Design optimal peptide antigens:
  • Flavoprotein subunit of complex II (DHSA_HUMAN)
  • Succinate dehydrogenase complex subunit A (Q0QF12_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P31040

UniProtKB/Swiss-Prot:

SDHA_HUMAN :
  • Belongs to the FAD-dependent oxidoreductase 2 family. FRD/SDH subfamily.
Family:
  • Belongs to the FAD-dependent oxidoreductase 2 family. FRD/SDH subfamily.
genes like me logo Genes that share domains with SDHA: view

Function for SDHA Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
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  6. Cell Line

Molecular function for SDHA Gene

UniProtKB/Swiss-Prot Function:
Flavoprotein (FP) subunit of succinate dehydrogenase (SDH) that is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q) (PubMed:24781757). Can act as a tumor suppressor (PubMed:20484225).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a quinone + succinate = a quinol + fumarate; Xref=Rhea:RHEA:40523, ChEBI:CHEBI:24646, ChEBI:CHEBI:29806, ChEBI:CHEBI:30031, ChEBI:CHEBI:132124; EC=1.3.5.1; Evidence=. ;.
GENATLAS Biochemistry:
succinate dehydrogenase,flavoprotein,inner mitochondrial membrane,component,70kDa,of complex II of mitochondrial respiratory chain,oxidative phosphorylation,(OXPHOS),also catalyzing the seventh step of the citric acid cycle

Enzyme Numbers (IUBMB) for SDHA Gene

Phenotypes From GWAS Catalog for SDHA Gene

Gene Ontology (GO) - Molecular Function for SDHA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000104 contributes_to succinate dehydrogenase activity IMP 7550341
GO:0005515 protein binding IPI 15961414
GO:0008177 succinate dehydrogenase (ubiquinone) activity IMP,IBA 24781757
GO:0009055 electron transfer activity IBA 21873635
GO:0016491 oxidoreductase activity IEA --
genes like me logo Genes that share ontologies with SDHA: view
genes like me logo Genes that share phenotypes with SDHA: view

Human Phenotype Ontology for SDHA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SDHA Gene

MGI Knock Outs for SDHA:
  • Sdha Sdha<tm2b(KOMP)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SDHA

No data available for Transcription Factor Targets and HOMER Transcription for SDHA Gene

Localization for SDHA Gene

Subcellular locations from UniProtKB/Swiss-Prot for SDHA Gene

Mitochondrion inner membrane; Peripheral membrane protein; Matrix side.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SDHA gene
Compartment Confidence
mitochondrion 5
nucleus 4
plasma membrane 2
extracellular 2
cytoskeleton 2
endoplasmic reticulum 2
cytosol 2
lysosome 2
peroxisome 1
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (4)
  • Nucleoli (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SDHA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005730 nucleolus IDA --
GO:0005739 mitochondrion IDA 7550341
GO:0005743 mitochondrial inner membrane TAS --
GO:0005749 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) TAS 7550341
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with SDHA: view

Pathways & Interactions for SDHA Gene

genes like me logo Genes that share pathways with SDHA: view

UniProtKB/Swiss-Prot P31040-SDHA_HUMAN

  • Pathway: Carbohydrate metabolism; tricarboxylic acid cycle; fumarate from succinate (eukaryal route): step 1/1.

Gene Ontology (GO) - Biological Process for SDHA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006099 tricarboxylic acid cycle TAS 7550341
GO:0006105 succinate metabolic process IDA 7550341
GO:0006121 mitochondrial electron transport, succinate to ubiquinone IBA 21873635
GO:0007399 nervous system development IMP 16361598
GO:0022900 electron transport chain IEA --
genes like me logo Genes that share ontologies with SDHA: view

No data available for SIGNOR curated interactions for SDHA Gene

Drugs & Compounds for SDHA Gene

Products:

  1. Drug

(16) Drugs for SDHA Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Coenzyme Q10 Approved, Investigational Nutra Target, cofactor 159
Succinic acid Approved Nutra Full agonist, Agonist, Target 0
Carboxin Approved, Experimental Pharma Target 0
Ferrous sulfate anhydrous Approved Pharma Enzyme, ligand 0
FAD Approved Pharma 0

(9) Additional Compounds for SDHA Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
QH(2)
  • Ubiquinol
  • Ubiquinol 0
  • Ubiquinol 1
  • Ubiquinol 50
  • Ubiquinol 7
QH2
  • CoQH2
  • Coenzymes QH2
  • Reduced ubiquinone
  • Ubiquinol
  • Ubiquinone-1
 56275-39-9
Sulfide
  • S(2-)
  • Sulphide
  • Sulfanediide
  • Sulfur
 18496-25-8
Ubiquinol 8
  • Reduced coenzyme Q8
  • Ubiquinol(8)
  • Ubiquinol-8
 74075-00-6
genes like me logo Genes that share compounds with SDHA: view

Transcripts for SDHA Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for SDHA Gene

3 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
20 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SDHA

Alternative Splicing Database (ASD) splice patterns (SP) for SDHA Gene

No ASD Table

Relevant External Links for SDHA Gene

GeneLoc Exon Structure for
SDHA

Expression for SDHA Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SDHA Gene

mRNA expression in normal human tissues for SDHA Gene
mRNA expression by GTEx for SDHA GenemRNA expression by BioGPS for SDHA Gene

mRNA differential expression in normal tissues according to GTEx for SDHA Gene

This gene is overexpressed in Heart - Left Ventricle (x6.6).

Protein differential expression in normal tissues from HIPED for SDHA Gene

This gene is overexpressed in Heart (11.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SDHA Gene



Protein tissue co-expression partners for SDHA Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SDHA

SOURCE GeneReport for Unigene cluster for SDHA Gene:

Hs.440475

Evidence on tissue expression from TISSUES for SDHA Gene

  • Nervous system(5)
  • Intestine(4.9)
  • Heart(4.7)
  • Liver(4.6)
  • Kidney(4)
  • Lung(3.9)
  • Skin(3.4)
  • Muscle(3)
  • Adrenal gland(2.9)
  • Eye(2.8)
  • Blood(2.5)
  • Stomach(2.4)
  • Thyroid gland(2.1)
  • Lymph node(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SDHA Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • larynx
  • meninges
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • thyroid
  • tongue
  • vocal cord
Thorax:
  • esophagus
  • heart
  • heart valve
  • lung
  • trachea
Abdomen:
  • adrenal gland
  • intestine
  • kidney
  • large intestine
  • liver
  • small intestine
  • stomach
Pelvis:
  • rectum
  • urinary bladder
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal cord
  • sweat gland
genes like me logo Genes that share expression patterns with SDHA: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for SDHA Gene

Orthologs for SDHA Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SDHA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia SDHA 31 30
  • 99.25 (n)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia SDHA 31
  • 92 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia SDHA 31
  • 91 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia SDHA 31 30
  • 89.06 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Sdha 17 31 30
  • 86.65 (n)
rat
(Rattus norvegicus)
 Mammalia Sdha 30
  • 86.38 (n)
cow
(Bos Taurus)
 Mammalia SDHA 31 30
  • 84.59 (n)
 OneToOne
chicken
(Gallus gallus)
 Aves SDHA 31 30
  • 77.96 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia SDHA 31
  • 88 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia sdha 30
  • 74.26 (n)
Str.9006 30
African clawed frog
(Xenopus laevis)
 Amphibia MGC68518 30
zebrafish
(Danio rerio)
 Actinopterygii sdha 31 30
  • 74.33 (n)
 OneToOne
zgc56051 30
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.337 30
fruit fly
(Drosophila melanogaster)
 Insecta Scs-fp 32
  • 73 (a)
SdhA 31 30
  • 68.13 (n)
 OneToOne
CG5718 32
  • 61 (a)
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP010429 30
  • 68.34 (n)
worm
(Caenorhabditis elegans)
 Secernentea C03G5.1 32
  • 72 (a)
C34B2.7 32
  • 71 (a)
sdha-1 30
  • 64.52 (n)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes -- 31
  • 65 (a)
 OneToOne
SDH1 30
  • 61.93 (n)
-- 33
A. gosspyii yeast
(Ashbya gossypii)
 Saccharomycetes AGOS_ACR052W 30
  • 62.62 (n)
K. lactis yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0D04444g 30
  • 59.68 (n)
thale cress
(Arabidopsis thaliana)
 eudicotyledons SDH1-1 30
  • 64.04 (n)
Alicante grape
(Vitis vinifera)
 eudicotyledons Vvi.10042 30
rice
(Oryza sativa)
 Liliopsida Os07g0134800 30
  • 63.23 (n)
Os.22581 30
corn
(Zea mays)
 Liliopsida Zm.16820 30
wheat
(Triticum aestivum)
 Liliopsida Ta.3416 30
bread mold
(Neurospora crassa)
 Ascomycetes NCU08336 30
  • 63.88 (n)
fission yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes sdh1 30
  • 62.64 (n)
sea squirt
(Ciona savignyi)
 Ascidiacea Cin.2710 30
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.2710 30
Species where no ortholog for SDHA was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for SDHA Gene

ENSEMBL:
Gene Tree for SDHA (if available)
TreeFam:
Gene Tree for SDHA (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SDHA: view image

Paralogs for SDHA Gene

Variants for SDHA Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SDHA Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
412369 Uncertain Significance: Mitochondrial complex II deficiency; Paragangliomas 5 233,577(+) TG/CA MISSENSE_VARIANT
545722 Pathogenic: Paragangliomas 5 233,472(+) TGCAGGCATATATGGT SPLICE_ACCEPTOR_VARIANT,SPLICE_DONOR_VARIANT
568815 Uncertain Significance: Mitochondrial complex II deficiency; Paragangliomas 5 251,426(+) AC/GT MISSENSE_VARIANT,INTRON_VARIANT
572860 Uncertain Significance: Mitochondrial complex II deficiency; Paragangliomas 5 233,618(+) CC/GG MISSENSE_VARIANT
639589 Pathogenic: Mitochondrial complex II deficiency; Paragangliomas 5 235,337(+) C/T NONSENSE

Additional dbSNP identifiers (rs#s) for SDHA Gene

Structural Variations from Database of Genomic Variants (DGV) for SDHA Gene

Variant ID Type Subtype PubMed ID
dgv1559e212 CNV loss 25503493
dgv3009n106 CNV deletion 24896259
esv2752083 CNV gain 17911159
esv2759315 CNV loss 17122850
esv2763907 CNV gain+loss 21179565
esv3565293 CNV deletion 23714750
esv3569892 CNV loss 25503493
esv3569895 CNV loss 25503493
esv3569900 CNV loss 25503493
esv3569901 CNV loss 25503493
esv3603736 CNV loss 21293372
esv3603737 CNV gain 21293372
esv3894107 CNV gain 25118596
nsv1018481 CNV gain 25217958
nsv1018482 CNV loss 25217958
nsv1028658 CNV gain 25217958
nsv1030767 CNV gain 25217958
nsv10644 CNV gain+loss 18304495
nsv10645 CNV loss 18304495
nsv1109668 CNV deletion 24896259
nsv1133013 OTHER inversion 24896259
nsv1143120 CNV tandem duplication 24896259
nsv1147234 OTHER inversion 26484159
nsv428458 CNV loss 18775914
nsv518607 CNV gain 19592680
nsv523382 CNV loss 19592680
nsv596611 CNV loss 21841781
nsv964811 CNV duplication 23825009
nsv964812 CNV duplication 23825009
nsv964813 CNV duplication 23825009
nsv968130 CNV duplication 23825009

Variation tolerance for SDHA Gene

Residual Variation Intolerance Score: 16.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.69; 78.59% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SDHA Gene

Human Gene Mutation Database (HGMD)
SDHA
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SDHA

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SDHA Gene

Disorders for SDHA Gene

MalaCards: The human disease database

(49) MalaCards diseases for SDHA Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
mitochondrial complex ii deficiency
  • succinate coq reductase deficiency
cardiomyopathy, dilated, 1gg
  • cmd1gg
paragangliomas 5
  • pgl5
leigh syndrome
  • ls
carney triad
  • gastric leiomyosarcoma, pulmonary chondroma, and extraadrenal paraganglioma
- elite association - COSMIC cancer census association via MalaCards
Search SDHA in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SDHA_HUMAN
  • Mitochondrial complex II deficiency (MT-C2D) [MIM:252011]: A disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations. Clinical features include psychomotor regression in infants, poor growth with lack of speech development, severe spastic quadriplegia, dystonia, progressive leukoencephalopathy, muscle weakness, exercise intolerance, cardiomyopathy. Some patients manifest Leigh syndrome or Kearns-Sayre syndrome. Note=The disease is caused by mutations affecting the gene represented in this entry. {ECO:0000269 PubMed:12794685}.
  • Leigh syndrome (LS) [MIM:256000]: An early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia. {ECO:0000269 PubMed:10746566, ECO:0000269 PubMed:24781757, ECO:0000269 PubMed:7550341}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Cardiomyopathy, dilated 1GG (CMD1GG) [MIM:613642]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269 PubMed:20551992}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Paragangliomas 5 (PGL5) [MIM:614165]: A neural crest tumor usually derived from the chromoreceptor tissue of a paraganglion. Paragangliomas can develop at various body sites, including the head, neck, thorax and abdomen. Most commonly, they are located in the head and neck region, specifically at the carotid bifurcation, the jugular foramen, the vagal nerve, and in the middle ear. {ECO:0000269 PubMed:20484225}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for SDHA Gene

lactate acidosis,Leigh syndrome presenting as a leukodystrophy

Additional Disease Information for SDHA

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SDHA: view

Publications for SDHA Gene

  1. Human complex II (succinate-ubiquinone oxidoreductase): cDNA cloning of the flavoprotein (Fp) subunit of liver mitochondria. (PMID: 7798181) Hirawake H … Kita K (Journal of biochemistry 1994) 2 3 4 23 54
  2. Single nucleotide polymorphisms in succinate dehydrogenase subunits and citrate synthase genes: association results for impaired spermatogenesis. (PMID: 17298551) Bonache S … Larriba S (International journal of andrology 2007) 3 23 41 54
  3. Homozygous Gly555Glu mutation in the nuclear-encoded 70 kDa flavoprotein gene causes instability of the respiratory chain complex II. (PMID: 12794685) Van Coster R … Lissens W (American journal of medical genetics. Part A 2003) 3 4 23 54
  4. Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome. (PMID: 10746566) Parfait B … Rustin P (Human genetics 2000) 3 4 23 54
  5. SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors. (PMID: 24781757) Renkema GH … Rodenburg RJ (European journal of human genetics : EJHG 2015) 3 4 54

ExternalLinks

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Products for SDHA Gene

  • Addgene plasmids for SDHA

Sources for SDHA Gene