Gene Gene information from NCBI Gene database.
Entrez ID 1534
Gene name Cytochrome b561
Gene symbol CYB561
Synonyms (NCBI Gene)
CGCytbCYB561A1FRRS2ORTHYP2
Chromosome 17
Chromosome location 17q23.3
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs772361572 C>A,G,T Pathogenic Missense variant, coding sequence variant
rs1437737028 C>T Pathogenic Stop gained, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
898
miRTarBase ID miRNA Experiments Reference
MIRT017264 hsa-miR-335-5p Microarray 18185580
MIRT040786 hsa-miR-18a-3p CLASH 23622248
MIRT689451 hsa-miR-3120-3p HITS-CLIP 23313552
MIRT689450 hsa-miR-3125 HITS-CLIP 23313552
MIRT689449 hsa-miR-3916 HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 32296183
GO:0005765 Component Lysosomal membrane IBA
GO:0006879 Process Intracellular iron ion homeostasis IEA
GO:0016020 Component Membrane IEA
GO:0016020 Component Membrane NAS 7559396, 7980462
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600019 2571 ENSG00000008283
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P49447
Protein name Transmembrane ascorbate-dependent reductase CYB561 (EC 7.2.1.-) (Cytochrome b-561) (Cytochrome b561)
Protein function Transmembrane reductase that uses ascorbate as an electron donor in the cytoplasm and transfers electrons across membranes to reduce monodehydro-L-ascorbate radical in the lumen of secretory vesicles. It is therefore involved the regeneration an
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03188 Cytochrom_B561 52 186 Eukaryotic cytochrome b561 Family
Tissue specificity TISSUE SPECIFICITY: Expressed in many tissues, in particular the brain especially in the cortex and hippocampus. {ECO:0000269|PubMed:29343526}.
Sequence
MEGGAAAATPTALPYYVAFSQLLGLTLVAMTGAWLGLYRGGIAWESDLQFNAHPLCMVIG
LIFLQGNALLVYRVFRNEAKRTTKVLHGLLHIFALVIALVGLVAVFDYHRKKGYADLYSL
HSWCGILVFVLYFVQWLVGFSFFLFPGASFSLRSRYRPQHIFFGATIFLLSVGTALLGLK
EALLFN
LGGKYSAFEPEGVLANVLGLLLACFGGAVLYILTRADWKRPSQAEEQALSMDFK
TLTEGDSPGSQ
Sequence length 251
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
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 Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Orthostatic hypotension 2 Pathogenic rs772361572, rs1437737028 RCV000721911
RCV000721912
★★★★☆
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CYB561-related disorder Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Breast Neoplasms Breast neoplasm Pubtator 35486183 Associate
★☆☆☆☆
Found in Text Mining only
Depressive disorder Mental Depression BEFREE 30194287
★☆☆☆☆
Found in Text Mining only
dopamine beta hydroxylase deficiency Dopamine Beta Hydroxylase Deficiency BEFREE 29343526
★☆☆☆☆
Found in Text Mining only
dopamine beta hydroxylase deficiency Pubtator 31822578 Associate
★☆☆☆☆
Found in Text Mining only
Glioblastoma Glioblastoma BEFREE 9778036
★☆☆☆☆
Found in Text Mining only
Glioblastoma Multiforme Glioblastoma BEFREE 9778036
★☆☆☆☆
Found in Text Mining only
Hypoglycemia Hypoglycemia HPO_DG
★☆☆☆☆
Found in Text Mining only
Hypotension Hypotension Pubtator 31822578 Associate
★☆☆☆☆
Found in Text Mining only
Hypotension Orthostatic Orthostatic hypotension Pubtator 31822578 Associate
★☆☆☆☆
Found in Text Mining only
Leukemia Leukemia Pubtator 37584287 Associate
★☆☆☆☆
Found in Text Mining only