Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	51700
Gene name	Cytochrome b5 reductase 2
Gene symbol	CYB5R2
Synonyms (NCBI Gene)	B5R.2
Chromosome	11
Chromosome location	11p15.4
Summary	The protein encoded by this gene belongs to the flavoprotein pyridine nucleotide cytochrome reductase family of proteins. Cytochrome b-type NAD(P)H oxidoreductases are implicated in many processes including cholesterol biosynthesis, fatty acid desaturatio

Show/Hide all (17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004128	Function	Cytochrome-b5 reductase activity, acting on NAD(P)H	IBA
GO:0004128	Function	Cytochrome-b5 reductase activity, acting on NAD(P)H	IDA	10611283
GO:0004128	Function	Cytochrome-b5 reductase activity, acting on NAD(P)H	IEA
GO:0004128	Function	Cytochrome-b5 reductase activity, acting on NAD(P)H	TAS
GO:0005515	Function	Protein binding	IPI	16189514, 25416956, 32296183
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005739	Component	Mitochondrion	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006694	Process	Steroid biosynthetic process	IEA
GO:0008202	Process	Steroid metabolic process	IEA
GO:0015701	Process	Bicarbonate transport	TAS
GO:0016020	Component	Membrane	IDA	10611283
GO:0016126	Process	Sterol biosynthetic process	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0071949	Function	FAD binding	IBA

MIM	HGNC	e!Ensembl
608342	24376	ENSG00000166394

Q6BCY4

Protein name

NADH-cytochrome b5 reductase 2 (b5R.2) (EC 1.6.2.2)

Protein function

NADH-cytochrome b5 reductases are involved in desaturation and elongation of fatty acids, cholesterol biosynthesis, drug metabolism, and, in erythrocyte, methemoglobin reduction (By similarity). Responsible for NADH-dependent lucigenin chemilumi

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00970	FAD_binding_6	19 → 126	Oxidoreductase FAD-binding domain	Domain
PF00175	NAD_binding_1	152 → 260	Oxidoreductase NAD-binding domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Restricted expression. {ECO:0000269|PubMed:10611283}.

Sequence

MNSRRREPITLQDPEAKYPLPLIEKEKISHNTRRFRFGLPSPDHVLGLPVGNYVQLLAKI
DNELVVRAYTPVSSDDDRGFVDLIIKIYFKNVHPQYPEGGKMTQYLENMKIGETIFFRGP
RGRLFYHGPGNLGIRPDQTSEPKKTLADHLGMIAGGTGITPMLQLIRHITKDPSDRTRMS
LIFANQTEEDILVRKELEEIARTHPDQFNLWYTLDRPPIGWKYSSGFVTADMIKEHLPPP
AKSTLILVCGPPPLIQTAAHPNLEKLGYTQDMIFTY

Sequence length

276

Interactions

View interactions

	KEGG		Reactome
	Biosynthesis of various nucleotide sugars		Erythrocytes take up carbon dioxide and release oxygen

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)

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
CONTRACTURE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (4)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Breast Neoplasms	Associate	37230023	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Associate	26323991	★★★★★ ★☆☆☆☆ Found in Text Mining only
Light Fixation Seizure Syndrome	Associate	26323991	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Associate	30204798	★★★★★ ★☆☆☆☆ Found in Text Mining only

CYB5R2 (cytochrome b5 reductase 2)