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

Gene ID: 54949, updated on 8-May-2016
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 Ensembl:ENSG00000256591 HPRD:07915; MIM:613019
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]
Orthologs
Location:
11q12.2
Exon count:
4
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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 protein phosphatase 1 regulatory subunit 32 Neighboring gene uncharacterized LOC105369329

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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
Products Interactant Other Gene Complex Source Pubs Description

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 IMP
Inferred from Mutant Phenotype
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 IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
mitochondrial matrix IEA
Inferred from Electronic Annotation
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
succinate dehydrogenase assembly factor 2, mitochondrial
Names
SDH assembly factor 2
SDHAF2
hSDH5
succinate dehydrogenase subunit 5, mitochondrial

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, OTTHUMP00000238097, ENST00000301761, OTTHUMT00000398438
    Conserved Domains (1) summary
    pfam03937
    Location:66141
    Sdh5; Flavinator of succinate dehydrogenase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p2 Primary Assembly

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

Alternate CHM1_1.1

Genomic

  1. NC_018922.2 Alternate CHM1_1.1

    Range
    61080599..61097240
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)