SDHAF1 (succinate dehydrogenase complex assembly factor 1)

Gene

• Entrez ID: 644096
• Gene name: Succinate dehydrogenase complex assembly factor 1
• Gene symbol: SDHAF1
• Synonyms (NCBI Gene): LYRM8, MC2DN2
• Chromosome: 19
• Chromosome location: 19q13.12
• Summary: The succinate dehydrogenase (SDH) complex (or complex II) of the mitochondrial respiratory chain is composed of 4 individual subunits. The protein encoded by this gene resides in the mitochondria, and is essential for SDH assembly, but does not physically

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs137853192	G>C	Pathogenic	Coding sequence variant, missense variant
rs137853193	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs768768823	C>A	Pathogenic	Coding sequence variant, stop gained
rs1085307492	C>T	Likely-pathogenic	Coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT521175	hsa-miR-3186-5p	PAR-CLIP	23446348
MIRT521174	hsa-miR-1295b-3p	PAR-CLIP	23446348
MIRT521173	hsa-miR-1273g-3p	PAR-CLIP	23446348
MIRT521172	hsa-miR-3176	PAR-CLIP	23446348
MIRT521171	hsa-miR-3922-3p	PAR-CLIP	23446348
MIRT521170	hsa-miR-619-5p	PAR-CLIP	23446348
MIRT521169	hsa-miR-6506-5p	PAR-CLIP	23446348
MIRT521168	hsa-miR-4252	PAR-CLIP	23446348
MIRT521167	hsa-miR-668-5p	PAR-CLIP	23446348
MIRT521166	hsa-miR-6720-3p	PAR-CLIP	23446348
MIRT521165	hsa-miR-4731-5p	PAR-CLIP	23446348
MIRT521164	hsa-miR-5589-5p	PAR-CLIP	23446348
MIRT521163	hsa-miR-4757-5p	PAR-CLIP	23446348
MIRT521162	hsa-miR-6744-3p	PAR-CLIP	23446348
MIRT521161	hsa-miR-6807-5p	PAR-CLIP	23446348
MIRT521160	hsa-miR-6878-3p	PAR-CLIP	23446348
MIRT521159	hsa-miR-5089-5p	PAR-CLIP	23446348
MIRT521161	hsa-miR-6807-5p	PAR-CLIP	27292025
MIRT521175	hsa-miR-3186-5p	PAR-CLIP	23446348
MIRT521174	hsa-miR-1295b-3p	PAR-CLIP	23446348
MIRT521173	hsa-miR-1273g-3p	PAR-CLIP	23446348
MIRT521172	hsa-miR-3176	PAR-CLIP	23446348
MIRT521171	hsa-miR-3922-3p	PAR-CLIP	23446348
MIRT521170	hsa-miR-619-5p	PAR-CLIP	23446348
MIRT521169	hsa-miR-6506-5p	PAR-CLIP	23446348
MIRT521168	hsa-miR-4252	PAR-CLIP	23446348
MIRT521167	hsa-miR-668-5p	PAR-CLIP	23446348
MIRT521166	hsa-miR-6720-3p	PAR-CLIP	23446348
MIRT521165	hsa-miR-4731-5p	PAR-CLIP	23446348
MIRT521164	hsa-miR-5589-5p	PAR-CLIP	23446348
MIRT521163	hsa-miR-4757-5p	PAR-CLIP	23446348
MIRT521162	hsa-miR-6744-3p	PAR-CLIP	23446348
MIRT521161	hsa-miR-6807-5p	PAR-CLIP	23446348
MIRT521160	hsa-miR-6878-3p	PAR-CLIP	23446348
MIRT521159	hsa-miR-5089-5p	PAR-CLIP	23446348
MIRT1331782	hsa-miR-1275	CLIP-seq
MIRT1331783	hsa-miR-193a-5p	CLIP-seq
MIRT1331784	hsa-miR-4260	CLIP-seq
MIRT1331785	hsa-miR-4665-5p	CLIP-seq
MIRT2098044	hsa-miR-3179	CLIP-seq
MIRT2098045	hsa-miR-3202	CLIP-seq
MIRT2098046	hsa-miR-4688	CLIP-seq
MIRT2322706	hsa-miR-1229	CLIP-seq
MIRT2322707	hsa-miR-3127-3p	CLIP-seq
MIRT2322708	hsa-miR-3127-5p	CLIP-seq
MIRT2322709	hsa-miR-3154	CLIP-seq
MIRT2098044	hsa-miR-3179	CLIP-seq
MIRT2322710	hsa-miR-3180-5p	CLIP-seq
MIRT2098045	hsa-miR-3202	CLIP-seq
MIRT2322711	hsa-miR-3667-3p	CLIP-seq
MIRT2322712	hsa-miR-3918	CLIP-seq
MIRT2322713	hsa-miR-4450	CLIP-seq
MIRT2322714	hsa-miR-4497	CLIP-seq
MIRT2098046	hsa-miR-4688	CLIP-seq
MIRT2322715	hsa-miR-520a-5p	CLIP-seq
MIRT2322716	hsa-miR-525-5p	CLIP-seq
MIRT2322717	hsa-miR-543	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	24606901, 26749241, 28380382, 32296183, 33961781
GO:0005654	Component	Nucleoplasm	IDA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	19465911
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0034553	Process	Mitochondrial respiratory chain complex II assembly	IBA
GO:0034553	Process	Mitochondrial respiratory chain complex II assembly	IEA
GO:0034553	Process	Mitochondrial respiratory chain complex II assembly	IMP	19465911

Other IDs

• MIM: 612848
• HGNC: 33867
• e!Ensembl: ENSG00000205138

Protein

• UniProt ID: A6NFY7
• Protein name: Succinate dehydrogenase assembly factor 1, mitochondrial (SDH assembly factor 1) (SDHAF1) (LYR motif-containing protein 8)
• Protein function: Plays an essential role in the assembly of succinate dehydrogenase (SDH), an enzyme complex (also referred to as respiratory complex II) that is a component of both the tricarboxylic acid (TCA) cycle and the mitochondrial electron transport chai
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF05347	Complex1_LYR	9 → 63	Complex 1 protein (LYR family)	Family

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:19465911}.
• Sequence:

  MSRHSRLQRQVLSLYRDLLRAGRGKPGAEARVRAEFRQHAGLPRSDVLRIEYLYRRGRRQ
  LQLLRSGHATAMGAFVRPRAPTGEPGGVGCQPDDGDSPRNPHDSTGAPETRPDGR

• Sequence length: 115

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Mitochondrial complex 2 deficiency, nuclear type 2	Pathogenic; Likely pathogenic	rs1976655209, rs137853192, rs137853193, rs1397859218, rs768768823, rs2514019854, rs1085307492	RCV001328003 RCV000000457 RCV000000458 RCV002272980 RCV002272202 RCV003494054 RCV001328002	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mitochondrial complex II deficiency, nuclear type 1	Likely pathogenic; Pathogenic	rs768768823	RCV001332725	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA, VASCULAR	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEIGH SYNDROME	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL COMPLEX II DEFICIENCY	—	Disgenet, GenCC Disgenet, GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 2	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASE	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SDHAF1-related disorder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Arteriosclerotic Dementia	Arteriosclerotic Dementia	CTD_human_DG	19465911		★☆☆☆☆ Found in Text Mining only
Binswanger Disease	Binswanger Disease	CTD_human_DG	19465911		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	22972948		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dementia, Vascular	Dementia	CTD_human_DG	19465911		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Disorder of skeletal muscle	Disorder Of Skeletal Muscle	HPO_DG			★☆☆☆☆ Found in Text Mining only
Distal amyotrophy	Distal amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
External Ophthalmoplegia	External Ophthalmoplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Generalized myoclonic seizures	Myoclonic Seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Isolated succinate-CoQ reductase deficiency	Isolated Succinate-CoQ Reductase Deficiency	Orphanet			★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Left ventricular noncompaction	Left ventricular noncompaction	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	BEFREE	22972948, 23174333		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	35994381	Associate	★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	BEFREE	19465911, 22972948, 22995659, 23322652, 26749241		★☆☆☆☆ Found in Text Mining only
Mitochondrial Complex II Deficiency	Mitochondrial Complex Deficiency	ORPHANET_DG	19465911		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Complex II Deficiency	Mitochondrial Complex Deficiency	UNIPROT_DG	19465911, 22995659, 26749241		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Complex II Deficiency	Mitochondrial Complex Deficiency	GENOMICS_ENGLAND_DG	19465911, 22995659, 23322652, 26642834, 27604308		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Complex II Deficiency	Mitochondrial complex deficiency	Pubtator	22995659, 26749241	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Complex II Deficiency	Mitochondrial Complex Deficiency	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Complex II Deficiency	Mitochondrial Complex Deficiency	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Diseases	Mitochondrial Diseases	GENOMICS_ENGLAND_DG	27604308		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Diseases	Mitochondrial disease	Pubtator	34012134	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neonatal Hypotonia	Hypotonia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21082267		★☆☆☆☆ Found in Text Mining only
Noncompaction cardiomyopathy	Noncompaction cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spastic tetraparesis	Spastic tetraparesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Subcortical Vascular Dementia	Subcortical Vascular Dementia	CTD_human_DG	19465911		★☆☆☆☆ Found in Text Mining only
Succinate-coenzyme Q reductase deficiency	Succinate-Coenzyme Q Reductase Deficiency	BEFREE	22995659		★☆☆☆☆ Found in Text Mining only
Vascular Dementia, Acute Onset	Vascular Dementia	CTD_human_DG	19465911		★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	HPO_DG			★☆☆☆☆ Found in Text Mining only