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SDHD Gene(Protein Coding)

Succinate Dehydrogenase Complex Subunit D

GCID:
GC11P112087
GIFtS:
62
Genes Participants
UDN Logo

Aliases for SDHD Gene

Aliases for SDHD Gene

  • Succinate Dehydrogenase Complex Subunit D 2 3 4 5
  • Succinate-Ubiquinone Oxidoreductase Cytochrome B Small Subunit 3 4
  • Succinate-Ubiquinone Reductase Membrane Anchor Subunit 3 4
  • CII-4 3 4
  • CybS 3 4
  • QPs3 3 4
  • SDH4 3 4
  • Succinate Dehydrogenase [Ubiquinone] Cytochrome B Small Subunit, Mitochondrial 3
  • Succinate Dehydrogenase Complex, Subunit D, Integral Membrane Protein 2
  • Succinate Dehydrogenase Complex Subunit D Integral Membrane Protein 3
  • Small Subunit Of Cytochrome B 2
  • CBT1 3
  • CWS3 3
  • PGL1 3
  • PGL 3

External Ids for SDHD Gene

Previous HGNC Symbols for SDHD Gene

  • PGL
  • PGL1

Previous GeneCards Identifiers for SDHD Gene

  • GC11P114310
  • GC11P113469
  • GC11P111991
  • GC11P111495
  • GC11P111462
  • GC11P107881

Summaries for SDHD Gene

Entrez Gene Summary for SDHD Gene

  • This gene encodes a member of complex II of the respiratory chain, which is responsible for the oxidation of succinate. The encoded protein is one of two integral membrane proteins anchoring the complex to the matrix side of the mitochondrial inner membrane. Mutations in this gene are associated with the formation of tumors, including hereditary paraganglioma. Transmission of disease occurs almost exclusively through the paternal allele, suggesting that this locus may be maternally imprinted. There are pseudogenes for this gene on chromosomes 1, 2, 3, 7, and 18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2013]

GeneCards Summary for SDHD Gene

SDHD (Succinate Dehydrogenase Complex Subunit D) is a Protein Coding gene. Diseases associated with SDHD include Paragangliomas 1, With Or Without Deafness and Paraganglioma And Gastric Stromal Sarcoma. Among its related pathways are Citrate cycle (TCA cycle) and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. GO annotations related to this gene include heme binding and ubiquinone binding.

UniProtKB/Swiss-Prot for SDHD 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).

Gene Wiki entry for SDHD Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SDHD Gene

Genomics for SDHD Gene

Products:

  1. Regulatory Element

Regulatory Elements for SDHD Gene

Enhancers for SDHD Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11G111934 1.9 FANTOM5 Ensembl ENCODE dbSUPER 16.2 -146.7 -146709 11.8 HDGF PKNOX1 FOXA2 CREB3L1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 PPP2R1B SDHD C11orf52 HSPB2-C11orf52 HSPB2 TIMM8B FDXACB1 C11orf1 ALG9 C11orf57
GH11G112155 1.6 FANTOM5 Ensembl ENCODE 10.8 +74.8 74770 11.5 FOXA2 SIN3A FEZF1 BRCA1 YY1 FOS ZHX2 REST MIER2 CREB3 IL18 BCO2 SDHD TIMM8B C11orf88
GH11G112119 1.4 FANTOM5 Ensembl ENCODE 11.5 +34.1 34098 3.1 BCOR PKNOX1 ZNF146 JUN ZMYM3 GATA2 EED FOS JUNB CEBPB IL18 SDHD TIMM8B TEX12 BCO2 LOC101928847 ALG9
GH11G112225 1.3 ENCODE dbSUPER 10.8 +141.5 141463 5.3 FOXA2 PKNOX1 ARNT CREB3L1 ARID4B SIN3A DMAP1 YY1 ZNF143 FOS LOC283140 PLET1 SDHD TIMM8B BCO2 PTS RPS6P16
GH11G112016 1.1 Ensembl ENCODE 10.6 -69.7 -69661 2.0 PKNOX1 FOXA2 ATF1 RAD21 RARA KAT2B GATA4 GATA2 CBX5 FOS PIH1D2 C11orf57 SDHD TIMM8B C11orf1 FDXACB1 ALG9 GC11M112018 ENSG00000255334
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SDHD on UCSC Golden Path with GeneCards custom track

Promoters for SDHD Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000044956 27 2001 HDGF PKNOX1 FOXA2 MLX CREB3L1 AGO1 WRNIP1 ARID4B SIN3A DMAP1

Transcription factor binding sites by QIAGEN in the SDHD gene promoter:

Genomic Location for SDHD Gene

Chromosome:
11
Start:
112,086,773 bp from pter
End:
112,120,013 bp from pter
Size:
33,241 bases
Orientation:
Plus strand

Genomic View for SDHD Gene

Genes around SDHD on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for SDHD Gene

Proteins for SDHD Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for SDHD 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 SDHD 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.

    Alternative splice isoforms for SDHD Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SDHD Gene

Protein Expression for SDHD Gene

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

Post-translational modifications for SDHD Gene

No Post-translational modifications

Other Protein References for SDHD Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for SDHD
  • Santa Cruz Biotechnology (SCBT) Antibodies for SDHD

No data available for DME Specific Peptides for SDHD Gene

Domains & Families for SDHD Gene

Gene Families for SDHD Gene

HGNC:

Protein Domains for SDHD Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for SDHD Gene

GenScript: Design optimal peptide antigens:

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 SDHD: view

Function for SDHD Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for SDHD Gene

GENATLAS Biochemistry:
succinate dehydrogenase,cyb S subunit,liver,inner mitochondrial membrane,component 4 of complex II of mitochondrial respiratory chain (CII-4),oxidative phosphorylation,(OXPHOS),also catalyzing the seventh step of the citric acid cycle
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 SDHD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000104 succinate dehydrogenase activity IDA 9533030
GO:0008177 contributes_to succinate dehydrogenase (ubiquinone) activity IBA --
GO:0009055 electron carrier activity TAS 9533030
GO:0020037 heme binding ISS --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with SDHD: view
genes like me logo Genes that share phenotypes with SDHD: view

Human Phenotype Ontology for SDHD Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SDHD Gene

MGI Knock Outs for SDHD:

Animal Model Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SDHD Gene

Localization for SDHD Gene

Subcellular locations from UniProtKB/Swiss-Prot for SDHD 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 SDHD gene
Compartment Confidence
mitochondrion 5
plasma membrane 1
extracellular 1
nucleus 1
lysosome 1

Gene Ontology (GO) - Cellular Components for SDHD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion TAS,IEA 2302193
GO:0005740 mitochondrial envelope TAS,IEA 9533030
GO:0005743 mitochondrial inner membrane ISS,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 SDHD: view

Pathways & Interactions for SDHD Gene

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

UniProtKB/Swiss-Prot O14521-DHSD_HUMAN

  • Pathway: Carbohydrate metabolism; tricarboxylic acid cycle.

Gene Ontology (GO) - Biological Process for SDHD Gene

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

No data available for SIGNOR curated interactions for SDHD Gene

Drugs & Compounds for SDHD Gene

Products:

  1. Drug

(11) Drugs for SDHD Gene - From: DrugBank, ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Hexachlorophene Approved, Withdrawn Pharma Target, inhibitor 3
Succinic acid Approved Nutra Full agonist, Agonist, Target 0
FAD Approved Pharma 0
Ubiquinone-1 Experimental Pharma Target 0
SB-649868 Experimental Pharma Antagonist 0

(7) Additional Compounds for SDHD Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
 15438-31-0
QH2
  • Coenzymes QH2
  • CoQH2
  • Reduced ubiquinone
  • Ubiquinol
  • Ubiquinone-1
 56275-39-9
Sulfide
  • Sulfanediide
  • Sulfide
  • Sulfur
  • Sulphide
 18496-25-8

(1) ApexBio Compounds for SDHD Gene

Compound Action Cas Number
Methylmalonate 516-05-2
genes like me logo Genes that share compounds with SDHD: view

Drug Products

Transcripts for SDHD Gene

Products:

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

mRNA/cDNA for SDHD Gene

(4) REFSEQ mRNAs :
(14) Additional mRNA sequences :
(1371) Selected AceView cDNA sequences:
(9) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SDHD Gene

Succinate dehydrogenase complex, subunit D, integral membrane protein:
Representative Sequences:

Inhibitory RNA Products

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

No ASD Table

Relevant External Links for SDHD Gene

GeneLoc Exon Structure for
SDHD
ECgene alternative splicing isoforms for
SDHD

Expression for SDHD Gene

Products:

  1. Primer

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

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SDHD Gene

This gene is overexpressed in Bone (10.4) and Liver (7.2).

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



Protein tissue co-expression partners for SDHD Gene

NURSA nuclear receptor signaling pathways regulating expression of SDHD Gene:

SDHD

SOURCE GeneReport for Unigene cluster for SDHD Gene:

Hs.744039

Evidence on tissue expression from TISSUES for SDHD Gene

  • Nervous system(4.9)
  • Liver(4.7)
  • Muscle(4.7)
  • Lung(4.5)
  • Bone marrow(4.3)
  • Kidney(3.7)
  • Adrenal gland(3.4)
  • Skin(3.4)
  • Thyroid gland(2.6)
  • Lymph node(2.4)
  • Blood(2.3)
  • Heart(2.2)
  • Stomach(2.1)
  • Intestine(2)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • hypothalamus
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • meninges
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • parathyroid
  • pituitary gland
  • salivary gland
  • skull
  • thyroid
  • tongue
  • tooth
  • vocal cord
Thorax:
  • breast
  • chest wall
  • clavicle
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • trachea
Abdomen:
  • adrenal gland
  • appendix
  • duodenum
  • intestine
  • kidney
  • large intestine
  • small intestine
  • stomach
Pelvis:
  • ovary
  • pelvis
  • penis
  • rectum
  • testicle
  • ureter
  • urethra
  • urinary bladder
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • sweat gland
  • vertebrae
genes like me logo Genes that share expression patterns with SDHD: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for SDHD Gene

Orthologs for SDHD Gene

This gene was present in the common ancestor of animals.

Orthologs for SDHD Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia SDHD 34
  • 99.58 (n)
dog
(Canis familiaris)
 Mammalia SDHD 34
  • 88.26 (n)
cow
(Bos Taurus)
 Mammalia SDHD 34 35
  • 86.97 (n)
rat
(Rattus norvegicus)
 Mammalia Sdhd 34
  • 83.23 (n)
mouse
(Mus musculus)
 Mammalia Sdhd 34 16 35
  • 83.02 (n)
oppossum
(Monodelphis domestica)
 Mammalia -- 35
  • 69 (a)
 OneToMany
chicken
(Gallus gallus)
 Aves SDHD 34 35
  • 63.75 (n)
lizard
(Anolis carolinensis)
 Reptilia -- 35
  • 83 (a)
 OneToMany
tropical clawed frog
(Silurana tropicalis)
 Amphibia sdhd 34
  • 64.91 (n)
zebrafish
(Danio rerio)
 Actinopterygii sdhdb 34 35
  • 60.82 (n)
sdhda 35
  • 53 (a)
 ManyToMany
fruit fly
(Drosophila melanogaster)
 Insecta CG10219 35
  • 27 (a)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea sdhd-1 35
  • 32 (a)
 OneToMany
Species where no ortholog for SDHD 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)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • 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)
  • 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)
  • wheat (Triticum aestivum)

Evolution for SDHD Gene

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

Paralogs for SDHD Gene

Pseudogenes.org Pseudogenes for SDHD Gene

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

No data available for Paralogs for SDHD Gene

Variants for SDHD Gene

Sequence variations from dbSNP and Humsavar for SDHD Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs104894302 Pathogenic, Paragangliomas 1 (PGL1) [MIM:168000] 112,089,002(+) TCTTC(A/G/T)TGGTC intron-variant, nc-transcript-variant, reference, missense
rs104894304 Pathogenic, Paragangliomas 1 (PGL1) [MIM:168000] 112,094,831(+) TGACT(A/G)TGTTC nc-transcript-variant, reference, missense, utr-variant-3-prime
rs202198133 Pathogenic, Mitochondrial complex II deficiency (MT-C2D) [MIM:252011] 112,088,902(+) CTAGC(A/G)AGAGG intron-variant, nc-transcript-variant, reference, missense
rs786205436 Pathogenic, Mitochondrial complex II deficiency (MT-C2D) [MIM:252011] 112,088,972(+) GATGG(A/G)CTATT intron-variant, nc-transcript-variant, reference, missense
rs80338844 Pathogenic, Paragangliomas 1 (PGL1) [MIM:168000], Pheochromocytoma (PCC) [MIM:171300] 112,088,939(+) GCTTC(C/T)GGCTG intron-variant, nc-transcript-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
esv2745077 CNV deletion 23290073
nsv975979 CNV duplication 23825009

Variation tolerance for SDHD Gene

Residual Variation Intolerance Score: 64.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.65; 31.55% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SDHD Gene

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

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

Disorders for SDHD Gene

MalaCards: The human disease database

(42) MalaCards diseases for SDHD Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
paragangliomas 1, with or without deafness
  • carotid body tumor
paraganglioma and gastric stromal sarcoma
  • carney dyad
mitochondrial complex ii deficiency
  • mitochondrial respiratory chain complex ii deficiency
cowden syndrome 3
  • cws3
hereditary paraganglioma-pheochromocytoma syndromes
  • paragangliomas 4
- elite association - COSMIC cancer census association via MalaCards
Search SDHD in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for SDHD

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

No data available for Genatlas for SDHD Gene

Publications for SDHD Gene

  1. Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations. (PMID: 15328326) Neumann H.P.H. … Eng C. (JAMA 2004) 3 4 22 46 64
  2. Germ-line mutations in nonsyndromic pheochromocytoma. (PMID: 12000816) Neumann H.P.H. … Eng C. (N. Engl. J. Med. 2002) 3 4 22 46 64
  3. Isocitrate dehydrogenase mutations are rare in pheochromocytomas and paragangliomas. (PMID: 19915015) Gaal J. … Dinjens W.N. (J. Clin. Endocrinol. Metab. 2010) 3 22 46 64
  4. Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD. (PMID: 19802898) Ricketts C.J. … Maher E.R. (Hum. Mutat. 2010) 3 22 46 64
  5. Germinal mutations of RET, SDHB, SDHD, and VHL genes in patients with apparently sporadic pheochromocytomas and paragangliomas. (PMID: 20205103) Krawczyk A. … Jarzab B. (Endokrynol Pol 2010) 3 22 46 64

Products for SDHD Gene

Sources for SDHD Gene

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