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FLASH GENE

Symbol

SDHB

contributors: mct/npt - updated : 08-11-2016

HGNC name	succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
HGNC id	10681

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CWS2 Cowden syndrome 2 PGL4 hereditary paraganglioma 4 SDHBD succinate dehydrogenase subunit B defieciency
Location	1p36.13      Physical location : 17.345.226 - 17.380.665
Synonym name	complex 2 of the respiratory chain, succinate-ubiquinone oxidoreductase
	iron-sulfur subunit of complex II
Synonym symbol(s)	SDH, IP, SDHIP, PGL4, SDH1, FLJ92337
EC.number	1.3.5.1, 1.3.99.1

DNA

TYPE	functioning gene
STRUCTURE	35.44 kb     8 Exon(s)

Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_003000 8 - 1161 NP_002991 28.8 280 - 1995 7622059

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive liver           stomach       highly Reproductive female system uterus cervix   highly Skin/Tegument skin       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES		globular
STRUCTURE

motifs/domains

conjugated

FlavoP

mono polymer

heteromer , dimer

HOMOLOGY

interspecies

homolog to C.elegans f42a8.2

Homologene

FAMILY

succinate dehydrogenase/fumarate reductase iron-sulfur protein family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,mitochondria,inner
	intracellular,cytoplasm,organelle,membrane

basic FUNCTION	succinate-ubiquinone oxidoreductase, catalyzing the seventh step of the citric acid cycle (tricarboxylic acid cycle)
	a crucial dosage-dependent role for SDHA, SDHB in oxygen homeostasis

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

organic acid

signaling

a component

complex II of mitochondrial respiratory chain, oxidative phosphorylation, (OXPHOS)

INTERACTION

DNA

RNA

small molecule

protein	SDHA and SDHB interacted specifically with SIRT3 (SIRT3 may be an important physiological regulator of SDH activity)
	CERS5 and SDHB interaction may synergistically affect transcriptional regulation of TP53 and CDKN1A

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

PGL4 , CWS2 , SDHBD

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral germinal mutation       in pheochromocytoma and paraganglioma tumoral       loss of function in pheochromocytoma and paraganglioma tumoral   LOH     in pheochromocytoma with high-risk of recurrence or malignancy tumoral germinal mutation       in Cowden and Cowden-like syndromes tumoral germinal mutation       in familial renal cell carcinoma, with early onset tumoral     --low   is limited to a distinctive subset of gastric wild-type gastrointestinal stromal tumours

Susceptibility

pheochromocytoma, paraganglioma and early-onset renal cell carcinoma

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS