Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1534
Gene name Gene Name - the full gene name approved by the HGNC.
Cytochrome b561
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CYB561
Synonyms (NCBI Gene) Gene synonyms aliases
CGCytb, CYB561A1, FRRS2, ORTHYP2
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q23.3
SNPs SNP information provided by dbSNP.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600019 2571 ENSG00000008283
Protein
UniProt ID 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 categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Orthostatic hypotension orthostatic hypotension 2 rs772361572, rs1437737028 N/A
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
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease N/A N/A GWAS
Hypertension Hypertension, High blood pressure / hypertension, Hypertension (confirmatory factor analysis Factor 12) N/A N/A GWAS
Schizophrenia Schizophrenia N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 35486183
Death Associate 35486183
dopamine beta hydroxylase deficiency Associate 31822578
Hypotension Associate 31822578
Hypotension Orthostatic Associate 31822578
Inflammation Stimulate 24005050
Leukemia Associate 37584287
Leukemia Myeloid Acute Associate 37584287
Renal Insufficiency Associate 31822578