SDHAF3 succinate dehydrogenase complex assembly factor 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SDHAF3provided by HGNC
Official Full Name: succinate dehydrogenase complex assembly factor 3provided by HGNC
Primary source: HGNC:HGNC:21752
See related: Ensembl:ENSG00000196636 MIM:615773; AllianceGenome:HGNC:21752
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ACN9; DC11; Sdh7; LYRM10
Summary: Predicted to be involved in mitochondrial respiratory chain complex II assembly; regulation of gluconeogenesis; and succinate metabolic process. Predicted to be located in mitochondrial matrix. Predicted to be active in mitochondrial intermembrane space. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in kidney (RPKM 6.5), testis (RPKM 5.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7q21.3

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (97117698..97181763)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (98347396..98411438)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (96747010..96811075)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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 Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SDHAF3 interacts directly with SDHB (residue 242 being key to this interaction), and that a variant in SDHAF3 (c.157 T > C [p.Phe53Leu]) may be more prevalent in individuals with familial and sporadic pheochromocytoma and paraganglioma, and is hypomorphic via impaired interaction with SDHB.
Title: Analysis of SDHAF3 in familial and sporadic pheochromocytoma and paraganglioma.
Single nucleotide polymorphism in ACN9 gene is associated with alcohol dependence.
Title: ACN9 and alcohol dependence: family-based association analysis in multiplex alcohol dependence families.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
ACN9 is involved in the predisposition to alcohol dependence.
Title: A Systematic single nucleotide polymorphism screen to fine-map alcohol dependence genes on chromosome 7 identifies association with a novel susceptibility gene ACN9.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D7S702 (e-PCR)
- UniSTS:56090

G17183 (e-PCR)
- UniSTS:18502

RH92173 (e-PCR)
- UniSTS:91503

Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
involved_in mitochondrial respiratory chain complex II assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of gluconeogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in succinate metabolic process	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in mitochondrial intermembrane space	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrial intermembrane space	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in mitochondrial matrix	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: succinate dehydrogenase assembly factor 3, mitochondrial

Names: ACN9 homolog; SDH assembly factor 3; protein ACN9 homolog, mitochondrial

NCBI Reference Sequences (RefSeq)

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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.