Q9NX18 (SDHF2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Succinate dehydrogenase assembly factor 2, mitochondrial
Short name=SDH assembly factor 2

Alternative name(s):
Succinate dehydrogenase subunit 5, mitochondrial
Short name=hSDH5

Gene names

Name:	SDHAF2
Synonyms:	C11orf79, PGL2, SDH5

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	166 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Required for insertion of FAD cofactor into SDHA, the catalytic subunit of succinate dehydrogenase (SDH). SDH is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q). In is unclear whether it participates in the chemistry of FAD attachment (enzymatic function) or acts as a chaperone that maintains SDHA in a conformation that is susceptible to autocatalytic FAD attachment. Ref.3
Subunit structure	Interacts with SDHA. Ref.3
Subcellular location	Mitochondrion Ref.3.
Involvement in disease	Paragangliomas 2 (PGL2) [MIM:601650]: 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. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.3
Sequence similarities	Belongs to the SDHAF2 family.

Ontologies

Keywords
Cellular component	Mitochondrion
Disease	Disease mutation
Domain	Transit peptide
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	mitochondrial electron transport, succinate to ubiquinone Inferred from mutant phenotype Ref.3. Source: UniProtKB protein-FAD linkage Inferred from mutant phenotype Ref.3. Source: UniProtKB
Cellular_component	mitochondrion Inferred from direct assay Ref.3. Source: UniProtKB nucleolus Inferred from direct assay. Source: HPA
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Transit peptide	1 – 29	29	Mitochondrion Potential
	Chain	30 – 166	137	Succinate dehydrogenase assembly factor 2, mitochondrial		PRO_0000294357
Natural variations
	Natural variant	78	1	G → R in PGL2; abolishes interaction with SDHA and flavination of SDHA. Ref.3		VAR_058705

Sequences

	Sequence		Length	Mass (Da)
	Q9NX18 [UniParc]. Last modified October 1, 2000. Version 1. Checksum: AB31FD150E1B6ECA	FASTA	166	19,599
	10 20 30 40 50 60 MAVSTVFSTS SLMLALSRHS LLSPLLSVTS FRRFYRGDSP TDSQKDMIEI PLPPWQERTD 70 80 90 100 110 120 ESIETKRARL LYESRKRGML ENCILLSLFA KEHLQHMTEK QLNLYDRLIN EPSNDWDIYY 130 140 150 160 WATEAKPAPE IFENEVMALL RDFAKNKNKE QRLRAPDLEY LFEKPR

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[2]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Lung.
[3]	"SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma." Hao H.-X., Khalimonchuk O., Schraders M., Dephoure N., Bayley J.-P., Kunst H., Devilee P., Cremers C.W.R.J., Schiffman J.D., Bentz B.G., Gygi S.P., Winge D.R., Kremer H., Rutter J. Science 325:1139-1142(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT PGL2 ARG-78, CHARACTERIZATION OF VARIANT PGL2 ARG-78, FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH SDHA.
+	Additional computationally mapped references.

Web resources

TCA Cycle Gene Mutation Database

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK000494 mRNA. Translation: BAA91204.1. BC002331 mRNA. Translation: AAH02331.1.
IPI	IPI00016443.
RefSeq	NP_060311.1. NM_017841.2.
UniGene	Hs.313247.
3D structure databases
ProteinModelPortal	Q9NX18.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9NX18. 4 interactions.
MINT	MINT-1381599.
STRING	9606.ENSP00000301761.
PTM databases
PhosphoSite	Q9NX18.
Polymorphism databases
DMDM	74734683.
Proteomic databases
PaxDb	Q9NX18.
PRIDE	Q9NX18.
Protocols and materials databases
DNASU	54949.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000301761; ENSP00000301761; ENSG00000167985.
GeneID	54949.
KEGG	hsa:54949.
UCSC	uc001nrt.3. human.
Organism-specific databases
CTD	54949.
GeneCards	GC11P061198.
HGNC	HGNC:26034. SDHAF2.
HPA	HPA039464. HPA039732.
MIM	601650. phenotype. 613019. gene.
neXtProt	NX_Q9NX18.
Orphanet	29072. Hereditary pheochromocytoma-paraganglioma.
PharmGKB	PA165543618.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG2938.
HOGENOM	HOG000230636.
InParanoid	Q9NX18.
OMA	YLFEKPH.
OrthoDB	EOG42822X.
PhylomeDB	Q9NX18.
Gene expression databases
ArrayExpress	Q9NX18.
Bgee	Q9NX18.
CleanEx	HS_C11orf79.
Genevestigator	Q9NX18.
Family and domain databases
Gene3D	1.10.150.250. 1 hit.
InterPro	IPR005631. DUF339. [Graphical view]
Pfam	PF03937. Sdh5. 1 hit. [Graphical view]
SUPFAM	SSF109910. DUF339. 1 hit.
ProtoNet	Search...
Other
GenomeRNAi	54949.
NextBio	58119.
SOURCE	Search...

Entry information

Entry name

SDHF2_HUMAN

Accession

Primary (citable) accession number: Q9NX18

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 10, 2007
Last sequence update:	October 1, 2000
Last modified:	May 1, 2013
This is version 84 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.