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SDHAF2 succinate dehydrogenase complex assembly factor 2 [ Homo sapiens (human) ]

Gene ID: 54949, updated on 5-Aug-2018

Summary

Official Symbol
SDHAF2provided by HGNC
Official Full Name
succinate dehydrogenase complex assembly factor 2provided by HGNC
Primary source
HGNC:HGNC:26034
See related
Ensembl:ENSG00000167985 MIM:613019; Vega:OTTHUMG00000168279
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PGL2; SDH5; C11orf79
Summary
This gene encodes a mitochondrial protein needed for the flavination of a succinate dehydrogenase complex subunit required for activity of the complex. Mutations in this gene are associated with paraganglioma.[provided by RefSeq, Jul 2010]
Expression
Ubiquitous expression in lymph node (RPKM 19.3), adrenal (RPKM 17.1) and 25 other tissues See more
Orthologs

Genomic context

See SDHAF2 in Genome Data Viewer
Location:
11q12.2
Exon count:
4
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (61430125..61446767)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (61197514..61214239)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene transmembrane protein 216 Neighboring gene cleavage and polyadenylation specific factor 7 Neighboring gene RNA, 7SL, cytoplasmic 23, pseudogene Neighboring gene protein phosphatase 1 regulatory subunit 32 Neighboring gene uncharacterized LOC105369329

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Professional guidelines

Description
Professional guideline
ACMG 2013

The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in SDHAF2 that are pathogenic or expected to be pathogenic.

GuidelinePubMed

Associated conditions

Description Tests
Paragangliomas 2 Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2016-01-14)

ClinGen Genome Curation Page
Haploinsufficency

Some evidence for dosage pathogenicity (Last evaluated (2016-01-14)

ClinGen Genome Curation PagePubMed

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ20487

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
mitochondrial electron transport, succinate to ubiquinone IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial electron transport, succinate to ubiquinone IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitochondrial respiratory chain complex II assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of canonical Wnt signaling pathway IGI
Inferred from Genetic Interaction
more info
PubMed 
negative regulation of epithelial to mesenchymal transition IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein dephosphorylation IGI
Inferred from Genetic Interaction
more info
PubMed 
protein-FAD linkage IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein-FAD linkage IMP
Inferred from Mutant Phenotype
more info
PubMed 
tricarboxylic acid cycle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
mitochondrial matrix IEA
Inferred from Electronic Annotation
more info
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
nucleolus IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
succinate dehydrogenase assembly factor 2, mitochondrial
Names
SDH assembly factor 2
hSDH5
succinate dehydrogenase subunit 5, mitochondrial

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_023393.1 RefSeqGene

    Range
    5001..21643
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_519

mRNA and Protein(s)

  1. NM_017841.2NP_060311.1  succinate dehydrogenase assembly factor 2, mitochondrial

    See identical proteins and their annotated locations for NP_060311.1

    Status: REVIEWED

    Source sequence(s)
    AI039966, AI660205, AK000494
    Consensus CDS
    CCDS8007.1
    UniProtKB/Swiss-Prot
    Q9NX18
    Related
    ENSP00000301761.2, OTTHUMP00000238097, ENST00000301761.6, OTTHUMT00000398438
    Conserved Domains (1) summary
    pfam03937
    Location:67140
    Sdh5; Flavinator of succinate dehydrogenase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

    Range
    61430125..61446767
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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