Aliases for SDHD Gene
Aliases for SDHD Gene
External Ids for SDHD Gene
- HGNC: 10683
- Entrez Gene: 6392
- Ensembl: ENSG00000204370
- OMIM: 602690
- UniProtKB: O14521
Previous HGNC Symbols for SDHD Gene
- PGL
- PGL1
Previous GeneCards Identifiers for SDHD Gene
- GC11P114310
- GC11P113469
- GC11P111991
- GC11P111495
- GC11P111462
- GC11P107881
Summaries 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 Paraganglioma And Gastric Stromal Sarcoma and Paragangliomas 1. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Pyruvate metabolism and Citric Acid (TCA) cycle. Gene Ontology (GO) annotations related to this gene include heme binding and ubiquinone binding. An important paralog of this gene is ENSG00000255292.
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).
Additional gene information for SDHD Gene
- Monarch Initiative
- Search for SDHD at DataMed
- Search for SDHD at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SDHD Gene
Genomics for SDHD Gene
GeneHancer (GH) Regulatory Elements for SDHD Gene
- Top Transcription factor binding sites by QIAGEN in the SDHD gene promoter:
Regulatory Element Products
Genomic Locations for SDHD Gene
- chr11:112,086,773-112,120,013
- (GRCh38/hg38)
- Size:
- 33,241 bases
- Orientation:
- Plus strand
- chr11:111,957,497-111,990,353
- (GRCh37/hg19)
Genomic View for SDHD Gene
- Cytogenetic band:
-
- 11q23.1 by Ensembl
- 11q23.1 by Entrez Gene
- 11q23.1 by HGNC


RefSeq DNA sequence for SDHD Gene
Proteins for SDHD Gene
-
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
- 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.
- 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.
Protein Expression for SDHD Gene
Post-translational modifications for SDHD Gene
Other Protein References for SDHD Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for SDHD
- Novus Biologicals Antibodies for SDHD
-
Abcam antibodies for SDHD
- Invitrogen Antibodies for SDHD
- Search GeneTex for Antibodies for SDHD
-
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-
Santa Cruz Biotechnology (SCBT) Antibodies for SDHD
Protein Products
-
OriGene Purified Proteins for SDHD
- Search Origene for MassSpec and Protein Over-expression Lysates for SDHD
- Origene Custom Protein Services for SDHD
- antibodies-online: Search results for 13 available SDHD Proteins ranked by validation data
- Compare Top SDHD Proteins
-
Quality Products:
- Search GeneTex for Proteins for SDHD
-
Abcam proteins for SDHD
Assay Products
- antibodies-online: Search results for 5 available SDHD Elisa Kits ranked by validation data
- Compare Top SDHD Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for SDHD Gene
Domains & Families for SDHD Gene
Gene Families for SDHD Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Disease related genes
- FDA approved drug targets
- Predicted membrane proteins
- Predicted secreted proteins
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- Family:
-
- Belongs to the CybS family.
Function for SDHD Gene
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).
Phenotypes From GWAS Catalog 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 transfer activity | TAS | 9533030 |
GO:0020037 | heme binding | IBA,ISS | -- |
GO:0046872 | metal ion binding | IEA | -- |
Phenotypes for SDHD Gene
- MGI mutant phenotypes for SDHD:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for SDHD:
Animal Model Products
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ViGene Biosciences lentiviral particle packaged cDNA for SDHD gene
-
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- Search ViGene Biosciences for SDHD
CRISPR Products
-
OriGene CRISPR knockouts for SDHD
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-
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-
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- GenScript: Design CRISPR guide RNA sequences for SDHD
miRNA for SDHD Gene
- miRTarBase miRNAs that target SDHD
-
- hsa-mir-210-3p (MIRT054099)
- hsa-mir-147b (MIRT054218)
- hsa-mir-5096 (MIRT468702)
- hsa-mir-1303 (MIRT468703)
- hsa-mir-4289 (MIRT468704)
- hsa-mir-1250-3p (MIRT468705)
- hsa-mir-23a-3p (MIRT468706)
- hsa-mir-23c (MIRT468707)
- hsa-mir-23b-3p (MIRT468708)
- hsa-mir-130a-5p (MIRT468709)
- hsa-mir-6875-3p (MIRT543314)
- hsa-mir-384 (MIRT543315)
- hsa-mir-5571-3p (MIRT543316)
- hsa-mir-7975 (MIRT543317)
- hsa-mir-374b-5p (MIRT543318)
- hsa-mir-374a-5p (MIRT543319)
- hsa-mir-610 (MIRT543320)
- hsa-mir-556-5p (MIRT543321)
- hsa-mir-5692c (MIRT543322)
- hsa-mir-5692b (MIRT543323)
- hsa-mir-369-3p (MIRT543324)
- hsa-mir-3159 (MIRT543325)
- hsa-mir-5680 (MIRT543326)
- hsa-mir-5583-3p (MIRT543327)
- hsa-mir-4517 (MIRT543328)
- hsa-mir-6083 (MIRT699808)
- hsa-mir-4752 (MIRT699809)
- hsa-mir-6833-5p (MIRT699810)
- hsa-mir-4800-5p (MIRT699811)
- hsa-mir-3138 (MIRT699812)
miRNA Products
- Search ViGene Biosciences for SDHD
Inhibitory RNA Products
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Clone Products
- Sino Biological Human cDNA Clone for SDHD
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
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- Applied Biological Materials Clones for SDHD
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
ViGene Biosciences adenoviral particle packaged cDNA for SDHD gene
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ViGene Biosciences lentiviral particle packaged cDNA for SDHD gene
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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.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005739 | mitochondrion | IEA,TAS | 2302193 |
GO:0005740 | mitochondrial envelope | TAS,IEA | 9533030 |
GO:0005743 | mitochondrial inner membrane | TAS,IEA | -- |
GO:0005749 | mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) | ISS | -- |
GO:0016020 | membrane | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for SDHD Gene
Pathways & Interactions for SDHD Gene
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. | ||
2 | Citrate cycle (TCA cycle) |
.01
|
|
3 | Pyruvate metabolism and Citric Acid (TCA) cycle |
.01
|
|
4 | Metabolism |
.37
|
|
5 | Carbon metabolism |
Pathways by source for SDHD Gene
4 BioSystems pathways for SDHD Gene
8 KEGG pathways for SDHD Gene
UniProtKB/Swiss-Prot O14521-DHSD_HUMAN
- Pathway: Carbohydrate metabolism; tricarboxylic acid cycle.
Interacting Proteins 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 | -- |
No data available for SIGNOR curated interactions for SDHD Gene
Drugs & Compounds for SDHD Gene
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 | ||
2-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-Triol | Experimental | Pharma | Target | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
Fe2+ |
|
15438-31-0 |
|
|||
QH2 |
|
56275-39-9 |
|
|||
Sulfide |
|
18496-25-8 |
|
(1) ApexBio Compounds for SDHD Gene
Compound | Action | Cas Number |
---|---|---|
Methylmalonate | 516-05-2 |
Transcripts for SDHD Gene
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:
CRISPR Products
-
OriGene CRISPR knockouts for SDHD
- genomics-online: gRNA clones - Search results for available SDHD gene related products
- Applied Biological Materials CRISPR for SDHD
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for SDHD
- GenScript: Design CRISPR guide RNA sequences for SDHD
miRNA Products
- Search ViGene Biosciences for SDHD
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for SDHD
- Browse OriGene Inhibitory RNA Products For SDHD
- genomics-online: shRNA clones - Search results for available SDHD gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for SDHD gene
Clone Products
- Sino Biological Human cDNA Clone for SDHD
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- genomics-online: cdna clones - Search results for available SDHD gene related products
- orf clones - Search results for available SDHD gene related products
- Applied Biological Materials Clones for SDHD
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for SDHD Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SDHD Gene
NURSA nuclear receptor signaling pathways regulating expression of SDHD Gene:
SDHDSOURCE GeneReport for Unigene cluster for SDHD Gene:
Hs.744039Evidence 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(2.2)
- Intestine(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for SDHD Gene
- ectoderm
- endoderm
- mesoderm
- cardiovascular
- digestive
- endocrine
- immune
- integumentary
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
- urinary
- 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
- breast
- chest wall
- clavicle
- esophagus
- heart
- heart valve
- lung
- rib
- rib cage
- scapula
- sternum
- trachea
- adrenal gland
- appendix
- duodenum
- intestine
- kidney
- large intestine
- small intestine
- stomach
- ovary
- pelvis
- penis
- rectum
- testicle
- ureter
- urethra
- urinary bladder
- uterus
- 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
- blood
- blood vessel
- coagulation system
- hair
- peripheral nerve
- peripheral nervous system
- red blood cell
- skin
- spinal column
- spinal cord
- sweat gland
- vertebrae
Primer Products
-
OriGene qPCR primer pairs for SDHD
-
OriGene qPCR primer pairs and template standards for SDHD
- genomics-online: primer clones - Search results for available SDHD gene related 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.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | SDHD 33 |
|
||
dog (Canis familiaris) |
Mammalia | SDHD 33 |
|
||
cow (Bos Taurus) |
Mammalia | SDHD 33 34 |
|
||
rat (Rattus norvegicus) |
Mammalia | Sdhd 33 |
|
||
mouse (Mus musculus) |
Mammalia | Sdhd 33 16 34 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | -- 34 |
|
OneToMany | |
chicken (Gallus gallus) |
Aves | SDHD 33 34 |
|
||
lizard (Anolis carolinensis) |
Reptilia | -- 34 |
|
OneToMany | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | sdhd 33 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | sdhdb 33 34 |
|
||
sdhda 34 |
|
ManyToMany | |||
fruit fly (Drosophila melanogaster) |
Insecta | CG10219 34 |
|
OneToMany | |
worm (Caenorhabditis elegans) |
Secernentea | sdhd-1 34 |
|
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)
Paralogs for SDHD Gene
Paralogs for SDHD Gene
Pseudogenes.org Pseudogenes for SDHD Gene
Variants for SDHD Gene
SNP ID | Clin | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs104894302 | pathogenic, likely-pathogenic, Paragangliomas 1, Hereditary cancer-predisposing syndrome, Paragangliomas 1 (PGL1) [MIM:168000] | 112,089,002(+) | A/G/T | coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant | |
rs104894303 | pathogenic, Paragangliomas 1, Hereditary cancer-predisposing syndrome | 112,087,910(+) | C/T | coding_sequence_variant, intron_variant, non_coding_transcript_variant, stop_gained | |
rs104894304 | pathogenic, Paragangliomas 1, Hereditary Paraganglioma-Pheochromocytoma Syndromes, Hereditary cancer-predisposing syndrome, Paragangliomas 1 (PGL1) [MIM:168000] | 112,094,831(+) | A/G | 3_prime_UTR_variant, coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
rs104894305 | pathogenic, Paragangliomas 1, Hereditary Paraganglioma-Pheochromocytoma Syndromes | 112,087,899(+) | C/A | coding_sequence_variant, intron_variant, non_coding_transcript_variant, stop_gained | |
rs104894306 | pathogenic, Paragangliomas 1, Pheochromocytoma, Hereditary cancer-predisposing syndrome | 112,087,868(+) | C/T | coding_sequence_variant, intron_variant, non_coding_transcript_variant, stop_gained |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2745077 | CNV | deletion | 23290073 |
nsv975979 | CNV | duplication | 23825009 |
Additional Variant Information for SDHD Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SDHD Gene
Disorders for SDHD Gene

(36) MalaCards diseases for SDHD Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
Disorder | Aliases | PubMed IDs |
---|---|---|
paraganglioma and gastric stromal sarcoma |
|
|
paragangliomas 1 |
|
|
mitochondrial complex ii deficiency |
|
|
cowden syndrome 3 |
|
|
carcinoid tumors, intestinal |
|
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.
Additional Disease Information for SDHD
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for SDHD Gene
Publications for SDHD Gene
- Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations. (PMID: 15328326) Neumann HP … European-American Paraganglioma Study Group (JAMA 2004) 3 4 22 44 58
- Germ-line mutations in nonsyndromic pheochromocytoma. (PMID: 12000816) Neumann HP … Freiburg-Warsaw-Columbus Pheochromocytoma Study Group (The New England journal of medicine 2002) 3 4 22 44 58
- Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD. (PMID: 19802898) Ricketts CJ … Maher ER (Human mutation 2010) 3 22 44 58
- Isocitrate dehydrogenase mutations are rare in pheochromocytomas and paragangliomas. (PMID: 19915015) Gaal J … Dinjens WN (The Journal of clinical endocrinology and metabolism 2010) 3 22 44 58
- Germinal mutations of RET, SDHB, SDHD, and VHL genes in patients with apparently sporadic pheochromocytomas and paragangliomas. (PMID: 20205103) Krawczyk A … Jarzab B (Endokrynologia Polska 2010) 3 22 44 58
Products for SDHD Gene
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- OriGene Purified Proteins for SDHD
- Search Origene for MassSpec and Protein Over-expression Lysates for SDHD
- Origene Custom Protein Services for SDHD
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SDHD
- Browse OriGene Inhibitory RNA Products For SDHD
- OriGene qPCR primer pairs and template standards for SDHD
- OriGene qPCR primer pairs for SDHD
- OriGene CRISPR knockouts for SDHD
- OriGene ORF clones in human for SDHD
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For SDHD
- GenScript: Next-day shipping of latest version cDNA ORF clones for SDHD in any vector
- GenScript Custom Purified and Recombinant Proteins Services for SDHD
- GenScript Custom Assay Services for SDHD
- GenScript Custom overexpressing Cell Line Services for SDHD
- GenScript: Design CRISPR guide RNA sequences for SDHD
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for SDHD
- Sino Biological Human cDNA Clone for SDHD
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse Sino Biological ELISA Kits
- Browse Sino Biological ELISA Pair Sets
- Browse Sino Biological CRO Services
- Browse Sino Biological Control Vectors
- Sino Biological Transfection Reagent
- Sino Biological Anti-His Tag Antibody
- Novus Biologicals Antibodies for SDHD
- Novus Biologicals proteins and lysates for SDHD
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Abcam antibodies for SDHD
- Abcam proteins for SDHD
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Browse Antibodies at Cloud-Clone Corp.
- Browse Proteins at Cloud-Clone Corp.
- Browse Assay Kits at Cloud-Clone Corp.
- Browse Knockouts at Cloud-Clone Corp.
- Browse Knockins at Cloud-Clone Corp.
- Cloud-Clone Corp. disease models service
- Browse cDNA clones at Cloud-Clone Corp.
- Browse primers at Cloud-Clone Corp.
- Cloud-Clone Corp. primary cells service
- Invitrogen Antibodies for SDHD
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- ApexBio compounds for SDHD
- antibodies-online: Search results for 43 available SDHD Antibodies ranked by validation data
- Compare Top SDHD Antibodies
- Quality Products:
- antibodies-online: Search results for 5 available SDHD Elisa Kits ranked by validation data
- Compare Top SDHD Elisa Kits
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- antibodies-online: Search results for 13 available SDHD Proteins ranked by validation data
- Compare Top SDHD Proteins
- Quality Products:
- Search GeneTex for Antibodies for SDHD
- Search GeneTex for Proteins for SDHD
- ViGene Biosciences adenoviral particle packaged cDNA for SDHD gene
- ViGene Biosciences lentiviral particle packaged cDNA for SDHD gene
- ViGene Biosciences ready-to-package AAV shRNAs for SDHD gene
- Search ViGene Biosciences for SDHD
- Santa Cruz Biotechnology (SCBT) Antibodies for SDHD
- Search Santa Cruz Biotechnology (SCBT) for SDHD siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for SDHD
- genomics-online: cdna clones - Search results for available SDHD gene related products
- orf clones - Search results for available SDHD gene related products
- genomics-online: gRNA clones - Search results for available SDHD gene related products
- genomics-online: primer clones - Search results for available SDHD gene related products
- genomics-online: shRNA clones - Search results for available SDHD gene related products
Sources for SDHD Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew