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Aliases for ENSG00000255292 Gene

Aliases for ENSG00000255292 Gene

  • Succinate-Ubiquinone Oxidoreductase Cytochrome B Small Subunit 4
  • Succinate-Ubiquinone Reductase Membrane Anchor Subunit 4
  • Succinate Dehydrogenase Complex Subunit D 4
  • Succinate Dehydrogenase 5
  • AP002884.5 5
  • CII-4 4
  • CybS 4
  • QPs3 4
  • SDH4 4
  • SDHD 4

External Ids for ENSG00000255292 Gene

Previous GeneCards Identifiers for ENSG00000255292 Gene

  • GC11P111957

Summaries for ENSG00000255292 Gene

GeneCards Summary for ENSG00000255292 Gene

ENSG00000255292 is a Protein Coding gene. Diseases associated with ENSG00000255292 include Mitochondrial Complex Ii Deficiency and Cowden Syndrome 3. An important paralog of this gene is SDHD.

UniProtKB/Swiss-Prot for ENSG00000255292 Gene

  • Membrane-anchoring 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).

Additional gene information for ENSG00000255292 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ENSG00000255292 Gene

Genomics for ENSG00000255292 Gene

GeneHancer (GH) Regulatory Elements for ENSG00000255292 Gene

Promoters and enhancers for ENSG00000255292 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11I112085 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 -0.1 -62 2.5 HDGF PKNOX1 FOXA2 SMAD1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 SDHD ENSG00000255292 TIMM8B PPP2R1B PIR48704
GH11I111934 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.7 -146.8 -146759 11.8 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 DIXDC1 PPP2R1B SDHD C11orf52 HSPB2 HSPB2-C11orf52 TIMM8B ENSG00000255292 FDXACB1 C11orf1
GH11I112155 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE 10.8 +74.7 74718 11.5 FOXA2 SIN3A FEZF1 BRCA1 ETS1 YY1 ATF7 FOS RXRA ZHX2 IL18 BCO2 TIMM8B SDHD ENSG00000255292 C11orf88 ENSG00000254638
GH11I112225 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 10.8 +141.4 141412 5.3 FOXA2 SMAD1 ARID4B SIN3A DMAP1 YY1 POLR2B ZNF143 FOS SP3 PTS LOC283140 PLET1 ENSG00000255292 SDHD TIMM8B BCO2 RPS6P16
GH11I112174 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 10.7 +88.9 88890 2.2 HDAC1 PKNOX1 ATF1 INSM2 ARID4B SIN3A BMI1 RAD21 RARA YY1 BCO2 ENSG00000255292 SDHD TIMM8B KCTD9P4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ENSG00000255292 on UCSC Golden Path with GeneCards custom track

Genomic Locations for ENSG00000255292 Gene

Genomic Locations for ENSG00000255292 Gene
chr11:112,086,824-112,193,805
(GRCh38/hg38)
Size:
106,982 bases
Orientation:
Plus strand
chr11:111,957,627-112,064,528
(GRCh37/hg19)

Genomic View for ENSG00000255292 Gene

Genes around ENSG00000255292 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ENSG00000255292 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ENSG00000255292 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

No data available for RefSeq DNA sequence for ENSG00000255292 Gene

Proteins for ENSG00000255292 Gene

  • Protein details for ENSG00000255292 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14521-DHSD_HUMAN
    Recommended name:
    Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial
    Protein Accession:
    O14521
    Secondary Accessions:
    • A6ND90
    • B3KQQ8
    • E9PIC0
    • E9PIG3
    • E9PQI9
    • Q53XW5
    • Q6IRW2

    Protein attributes for ENSG00000255292 Gene

    Size:
    159 amino acids
    Molecular mass:
    17043 Da
    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.
    • 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.

    Alternative splice isoforms for ENSG00000255292 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ENSG00000255292 Gene

Post-translational modifications for ENSG00000255292 Gene

No Post-translational modifications

Other Protein References for ENSG00000255292 Gene

No data available for DME Specific Peptides for ENSG00000255292 Gene

Domains & Families for ENSG00000255292 Gene

Protein Domains for ENSG00000255292 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

O14521

UniProtKB/Swiss-Prot:

DHSD_HUMAN :
  • Belongs to the CybS family.
Family:
  • Belongs to the CybS family.
genes like me logo Genes that share domains with ENSG00000255292: view

No data available for Gene Families and Suggested Antigen Peptide Sequences for ENSG00000255292 Gene

Function for ENSG00000255292 Gene

Molecular function for ENSG00000255292 Gene

UniProtKB/Swiss-Prot Function:
Membrane-anchoring 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).

Gene Ontology (GO) - Molecular Function for ENSG00000255292 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008177 succinate dehydrogenase (ubiquinone) activity IBA --
GO:0009055 electron transfer activity TAS --
GO:0020037 heme binding IBA --
GO:0046872 metal ion binding IEA --
GO:0048039 ubiquinone binding ISS --
genes like me logo Genes that share ontologies with ENSG00000255292: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ENSG00000255292 Gene

Localization for ENSG00000255292 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ENSG00000255292 Gene

Mitochondrion inner membrane; Multi-pass membrane protein.

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 ENSG00000255292 gene
Compartment Confidence
mitochondrion 3
nucleus 1

Gene Ontology (GO) - Cellular Components for ENSG00000255292 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion TAS --
GO:0005740 mitochondrial envelope TAS --
GO:0005743 mitochondrial inner membrane TAS --
GO:0005749 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) ISS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with ENSG00000255292: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ENSG00000255292 Gene

Pathways & Interactions for ENSG00000255292 Gene

SuperPathways for ENSG00000255292 Gene

No Data Available

UniProtKB/Swiss-Prot O14521-DHSD_HUMAN

  • Pathway: Carbohydrate metabolism; tricarboxylic acid cycle.

Gene Ontology (GO) - Biological Process for ENSG00000255292 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006099 tricarboxylic acid cycle TAS --
GO:0006121 mitochondrial electron transport, succinate to ubiquinone IBA --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with ENSG00000255292: view

No data available for Pathways by source and SIGNOR curated interactions for ENSG00000255292 Gene

Drugs & Compounds for ENSG00000255292 Gene

No Compound Related Data Available

Transcripts for ENSG00000255292 Gene

mRNA/cDNA for ENSG00000255292 Gene

(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for ENSG00000255292 Gene

No ASD Table

Relevant External Links for ENSG00000255292 Gene

GeneLoc Exon Structure for
ENSG00000255292

Expression for ENSG00000255292 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ENSG00000255292 Gene

mRNA expression in normal human tissues for ENSG00000255292 Gene

Evidence on tissue expression from TISSUES for ENSG00000255292 Gene

  • Adrenal gland(2.6)
genes like me logo Genes that share expression patterns with ENSG00000255292: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ENSG00000255292 Gene

Orthologs for ENSG00000255292 Gene

This gene was present in the common ancestor of animals.

Orthologs for ENSG00000255292 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SDHD 34
  • 59 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Sdhd 34
  • 54 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 44 (a)
OneToMany
chicken
(Gallus gallus)
Aves SDHD 34
  • 39 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 46 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii sdhdb 34
  • 35 (a)
ManyToMany
sdhda 34
  • 33 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG10219 34
  • 18 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea sdhd-1 34
  • 19 (a)
OneToMany
Species where no ortholog for ENSG00000255292 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for ENSG00000255292 Gene

ENSEMBL:
Gene Tree for ENSG00000255292 (if available)
TreeFam:
Gene Tree for ENSG00000255292 (if available)

Paralogs for ENSG00000255292 Gene

Paralogs for ENSG00000255292 Gene

genes like me logo Genes that share paralogs with ENSG00000255292: view

Variants for ENSG00000255292 Gene

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations from dbSNP and Humsavar , Structural Variations from Database of Genomic Variants (DGV) , Variation tolerance and Additional Variant Information for ENSG00000255292 Gene

Disorders for ENSG00000255292 Gene

MalaCards: The human disease database

(11) MalaCards diseases for ENSG00000255292 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
mitochondrial complex ii deficiency
  • succinate coq reductase deficiency
cowden syndrome 3
  • cws3
paraganglioma and gastric stromal sarcoma
  • gist
paragangliomas 1
  • pgl1
pheochromocytoma
  • pheochromocytoma, susceptibility to
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

DHSD_HUMAN
  • Cowden syndrome 3 (CWS3) [MIM:615106]: A form of Cowden syndrome, a hamartomatous polyposis syndrome with age-related penetrance. Cowden syndrome is characterized by hamartomatous lesions affecting derivatives of ectodermal, mesodermal and endodermal layers, macrocephaly, facial trichilemmomas (benign tumors of the hair follicle infundibulum), acral keratoses, papillomatous papules, and elevated risk for development of several types of malignancy, particularly breast carcinoma in women and thyroid carcinoma in both men and women. Colon cancer and renal cell carcinoma have also been reported. Hamartomas can be found in virtually every organ, but most commonly in the skin, gastrointestinal tract, breast and thyroid. {ECO:0000269 PubMed:18678321}. Note=The disease may be caused by mutations affecting the gene represented in this entry.
  • Intestinal carcinoid tumor (ICT) [MIM:114900]: A yellow, well-differentiated, circumscribed tumor that arises from enterochromaffin cells in the small intestine or, less frequently, in other parts of the gastrointestinal tract. {ECO:0000269 PubMed:12007193}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • 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. {ECO:0000269 PubMed:24367056, ECO:0000269 PubMed:26008905}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Paraganglioma and gastric stromal sarcoma (PGGSS) [MIM:606864]: Gastrointestinal stromal tumors may be sporadic or inherited in an autosomal dominant manner, alone or as a component of a syndrome associated with other tumors, such as in the context of neurofibromatosis type 1 (NF1). Patients have both gastrointestinal stromal tumors and paragangliomas. Susceptibility to the tumors was inherited in an apparently autosomal dominant manner, with incomplete penetrance. {ECO:0000269 PubMed:17804857}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Paragangliomas 1 (PGL1) [MIM:168000]: A neural crest tumor usually derived from the chromoreceptor tissue of a paraganglion. PGL1 is a rare autosomal dominant disorder which is characterized by the development of mostly benign, highly vascular, slowly growing tumors in the head and neck. In the head and neck region, the carotid body is the largest of all paraganglia and is also the most common site of the tumors. {ECO:0000269 PubMed:10657297, ECO:0000269 PubMed:11343322, ECO:0000269 PubMed:11391796, ECO:0000269 PubMed:11391798, ECO:0000269 PubMed:15328326}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Pheochromocytoma (PCC) [MIM:171300]: A catecholamine-producing tumor of chromaffin tissue of the adrenal medulla or sympathetic paraganglia. The cardinal symptom, reflecting the increased secretion of epinephrine and norepinephrine, is hypertension, which may be persistent or intermittent. {ECO:0000269 PubMed:11156372, ECO:0000269 PubMed:12000816, ECO:0000269 PubMed:15328326}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with ENSG00000255292: view

No data available for Genatlas and External Links for ENSG00000255292 Gene

Publications for ENSG00000255292 Gene

  1. N-terminome analysis of the human mitochondrial proteome. (PMID: 25944712) Vaca Jacome AS … Carapito C (Proteomics 2015) 4 58
  2. A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency. (PMID: 26008905) Alston CL … Taylor RW (Human genetics 2015) 4 58
  3. An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. (PMID: 24275569) Bian Y … Zou H (Journal of proteomics 2014) 4 58
  4. Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency. (PMID: 24367056) Jackson CB … Schaller A (Journal of medical genetics 2014) 4 58
  5. Initial characterization of the human central proteome. (PMID: 21269460) Burkard TR … Colinge J (BMC systems biology 2011) 4 58

Products for ENSG00000255292 Gene

Sources for ENSG00000255292 Gene

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