Gene Gene information from NCBI Gene database.
Entrez ID 79901
Gene name Cytochrome b reductase 1
Gene symbol CYBRD1
Synonyms (NCBI Gene)
CYB561A2DCYTBFRRS3
Chromosome 2
Chromosome location 2q31.1
Summary This gene is a member of the cytochrome b(561) family that encodes an iron-regulated protein. It highly expressed in the duodenal brush border membrane. It has ferric reductase activity and is believed to play a physiological role in dietary iron absorpti
miRNA miRNA information provided by mirtarbase database.
637
miRTarBase ID miRNA Experiments Reference
MIRT022211 hsa-miR-124-3p Microarray 18668037
MIRT028908 hsa-miR-26b-5p Microarray 19088304
MIRT030691 hsa-miR-21-5p Microarray 18591254
MIRT049718 hsa-miR-92a-3p CLASH 23622248
MIRT044230 hsa-miR-301a-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 21516116, 25416956, 25910212, 32296183, 32814053
GO:0005765 Component Lysosomal membrane IBA
GO:0005886 Component Plasma membrane IDA 17068337
GO:0005886 Component Plasma membrane IEA
GO:0005886 Component Plasma membrane TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605745 20797 ENSG00000071967
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q53TN4
Protein name Plasma membrane ascorbate-dependent reductase CYBRD1 (EC 7.2.1.3) (Cytochrome b reductase 1) (Duodenal cytochrome b) (Ferric-chelate reductase 3)
Protein function Plasma membrane reductase that uses cytoplasmic ascorbate as an electron donor to reduce extracellular Fe(3+) into Fe(2+) (PubMed:30272000). Probably functions in dietary iron absorption at the brush border of duodenal enterocytes by producing F
PDB 5ZLE , 5ZLG
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03188 Cytochrom_B561 49 185 Eukaryotic cytochrome b561 Family
Tissue specificity TISSUE SPECIFICITY: Present in erythrocyte membranes (at protein level). Also expressed in respiratory epithelium. {ECO:0000269|PubMed:16510471, ECO:0000269|PubMed:17068337}.
Sequence
MAMEGYWRFLALLGSALLVGFLSVIFALVWVLHYREGLGWDGSALEFNWHPVLMVTGFVF
IQGIAIIVYRLPWTWKCSKLLMKSIHAGLNAVAAILAIISVVAVFENHNVNNIANMYSLH
SWVGLIAVICYLLQLLSGFSVFLLPWAPLSLRAFLMPIHVYSGIVIFGTVIATALMGLTE
KLIFS
LRDPAYSTFPPEGVFVNTLGLLILVFGALIFWIVTRPQWKRPKEPNSTILHPNGG
TEQGARGSMPAYSGNNMDKSDSELNSEVAARKRNLALDEAGQRSTM
Sequence length 286
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Mineral absorption   Iron uptake and transport
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
19
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
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CANCER GWAS catalog
★★☆☆☆
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
Asthma Asthma Pubtator 34022066 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Carcinoma Breast Carcinoma BEFREE 28270217
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Carcinogenesis Carcinogenesis Pubtator 37632052 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 37632052 Associate
★☆☆☆☆
Found in Text Mining only
Chronic Kidney Diseases Kidney Disease BEFREE 28669019
★☆☆☆☆
Found in Text Mining only
Cirrhosis Cirrhosis BEFREE 14768003
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 23236349
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 16641131, 23236349, 36593242 Associate
★☆☆☆☆
Found in Text Mining only
Hemochromatosis Hemochromatosis BEFREE 12704390, 12801950, 12949720, 15338274, 27439017
★☆☆☆☆
Found in Text Mining only
Hemochromatosis Hemochromatosis Pubtator 19892936, 22773607 Associate
★☆☆☆☆
Found in Text Mining only