Gene Gene information from NCBI Gene database.
Entrez ID 135154
Gene name Succinate dehydrogenase complex assembly factor 4
Gene symbol SDHAF4
Synonyms (NCBI Gene)
C6orf57Sdh8
Chromosome 6
Chromosome location 6q13
miRNA miRNA information provided by mirtarbase database.
34
miRTarBase ID miRNA Experiments Reference
MIRT740307 hsa-miR-3155a HITS-CLIP 19536157
MIRT740308 hsa-miR-3155b HITS-CLIP 19536157
MIRT740309 hsa-miR-484 HITS-CLIP 19536157
MIRT740310 hsa-miR-6832-3p HITS-CLIP 19536157
MIRT740311 hsa-miR-4469 HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
17
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IBA
GO:0005739 Component Mitochondrion IEA
GO:0005759 Component Mitochondrial matrix IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
619198 20957 ENSG00000154079
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5VUM1
Protein name Succinate dehydrogenase assembly factor 4, mitochondrial (SDH assembly factor 4) (SDHAF4)
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
PDB 8DYD , 8DYE
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07896 DUF1674 59 108 Protein of unknown function (DUF1674) Family
Sequence
MTPSRLPWLLSWVSATAWRAARSPLLCHSLRKTSSSQGGKSELVKQSLKKPKLPEGRFDA
PEDSHLEKEPLEKFPDDVNPVTKEKGGPRGPEPTRYGDWERKGRCIDF
Sequence length 108
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ASTROCYTOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Diabetes Gestational Associate 36672824
★☆☆☆☆
Found in Text Mining only
Paraganglioma Associate 32948195
★☆☆☆☆
Found in Text Mining only
Thyroid Neoplasms Associate 36672824
★☆☆☆☆
Found in Text Mining only