SDHAF1 (succinate dehydrogenase complex assembly factor 1)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
644096
Gene name Gene Name - the full gene name approved by the HGNC.
Succinate dehydrogenase complex assembly factor 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SDHAF1
Synonyms (NCBI Gene) Gene synonyms aliases
LYRM8, MC2DN2
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.12
Summary Summary of gene provided in NCBI Entrez Gene.
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 information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(4)
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 miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(57)
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(11)
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
612848 33867 ENSG00000205138
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Mitochondrial Complex Deficiency Mitochondrial complex 2 deficiency, nuclear type 2, Mitochondrial complex II deficiency, nuclear type 1 rs137853192, rs137853193, rs768768823, rs1085307492 N/A
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Glioblastoma Glioblastoma N/A N/A GWAS
Leigh Syndrome Leigh syndrome N/A N/A GenCC
Mitochondrial Diseases mitochondrial disease N/A N/A GenCC
Show/Hide Text Mining Associations (5)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Fetal Alcohol Spectrum Disorders Associate 37047575
Leukemia Myeloid Acute Associate 35994381
Leukoencephalopathies Associate 22972948, 22995659, 26749241
Mitochondrial Complex II Deficiency Associate 22995659, 26749241
Mitochondrial Diseases Associate 34012134