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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	51167
Gene name	Cytochrome b5 reductase 4
Gene symbol	CYB5R4
Synonyms (NCBI Gene)	NCB5ORcb5/cb5RdJ676J13.1
Chromosome	6
Chromosome location	6q14.2
Summary	NCB5OR is a flavohemoprotein that contains functional domains found in both cytochrome b5 (CYB5A; MIM 613218) and CYB5 reductase (CYB5R3; MIM 613213) (Zhu et al., 1999 [PubMed 10611283]).[supplied by OMIM, Jan 2010]

Show/Hide all (92)

miRTarBase ID	miRNA	Experiments	Reference
MIRT004438	hsa-miR-373-3p	Microarray	15685193
MIRT019387	hsa-miR-148b-3p	Microarray	17612493
MIRT004438	hsa-miR-373-3p	Microarray	15685193
MIRT029327	hsa-miR-26b-5p	Microarray	19088304
MIRT713699	hsa-miR-1250-3p	HITS-CLIP	19536157
MIRT713698	hsa-miR-6748-3p	HITS-CLIP	19536157
MIRT713697	hsa-miR-4421	HITS-CLIP	19536157
MIRT713696	hsa-miR-5699-3p	HITS-CLIP	19536157
MIRT713695	hsa-miR-1199-5p	HITS-CLIP	19536157
MIRT713694	hsa-miR-6751-3p	HITS-CLIP	19536157
MIRT713693	hsa-miR-3182	HITS-CLIP	19536157
MIRT713692	hsa-miR-4778-3p	HITS-CLIP	19536157
MIRT713691	hsa-miR-1225-3p	HITS-CLIP	19536157
MIRT713690	hsa-miR-1233-3p	HITS-CLIP	19536157
MIRT713689	hsa-miR-6740-3p	HITS-CLIP	19536157
MIRT713688	hsa-miR-4303	HITS-CLIP	19536157
MIRT713687	hsa-miR-3074-5p	HITS-CLIP	19536157
MIRT713686	hsa-miR-7152-5p	HITS-CLIP	19536157
MIRT713685	hsa-miR-4659a-3p	HITS-CLIP	19536157
MIRT713684	hsa-miR-4659b-3p	HITS-CLIP	19536157
MIRT567871	hsa-miR-32-3p	PAR-CLIP	20371350
MIRT567870	hsa-miR-3185	PAR-CLIP	20371350
MIRT567869	hsa-miR-555	PAR-CLIP	20371350
MIRT567868	hsa-miR-3201	PAR-CLIP	20371350
MIRT713699	hsa-miR-1250-3p	HITS-CLIP	19536157
MIRT713698	hsa-miR-6748-3p	HITS-CLIP	19536157
MIRT713697	hsa-miR-4421	HITS-CLIP	19536157
MIRT713696	hsa-miR-5699-3p	HITS-CLIP	19536157
MIRT713695	hsa-miR-1199-5p	HITS-CLIP	19536157
MIRT713694	hsa-miR-6751-3p	HITS-CLIP	19536157
MIRT713693	hsa-miR-3182	HITS-CLIP	19536157
MIRT713692	hsa-miR-4778-3p	HITS-CLIP	19536157
MIRT713691	hsa-miR-1225-3p	HITS-CLIP	19536157
MIRT713690	hsa-miR-1233-3p	HITS-CLIP	19536157
MIRT713689	hsa-miR-6740-3p	HITS-CLIP	19536157
MIRT713688	hsa-miR-4303	HITS-CLIP	19536157
MIRT713687	hsa-miR-3074-5p	HITS-CLIP	19536157
MIRT713686	hsa-miR-7152-5p	HITS-CLIP	19536157
MIRT713685	hsa-miR-4659a-3p	HITS-CLIP	19536157
MIRT713684	hsa-miR-4659b-3p	HITS-CLIP	19536157
MIRT567871	hsa-miR-32-3p	PAR-CLIP	20371350
MIRT567870	hsa-miR-3185	PAR-CLIP	20371350
MIRT567869	hsa-miR-555	PAR-CLIP	20371350
MIRT567868	hsa-miR-3201	PAR-CLIP	20371350
MIRT919648	hsa-miR-1200	CLIP-seq
MIRT919649	hsa-miR-1245	CLIP-seq
MIRT919650	hsa-miR-130a	CLIP-seq
MIRT919651	hsa-miR-130b	CLIP-seq
MIRT919652	hsa-miR-132	CLIP-seq
MIRT919653	hsa-miR-137	CLIP-seq
MIRT919654	hsa-miR-148a	CLIP-seq
MIRT919655	hsa-miR-148b	CLIP-seq
MIRT919656	hsa-miR-152	CLIP-seq
MIRT919657	hsa-miR-212	CLIP-seq
MIRT919658	hsa-miR-301a	CLIP-seq
MIRT919659	hsa-miR-301b	CLIP-seq
MIRT919660	hsa-miR-3120-3p	CLIP-seq
MIRT919661	hsa-miR-329	CLIP-seq
MIRT919662	hsa-miR-3617	CLIP-seq
MIRT919663	hsa-miR-362-3p	CLIP-seq
MIRT919664	hsa-miR-3646	CLIP-seq
MIRT919665	hsa-miR-3653	CLIP-seq
MIRT919666	hsa-miR-3658	CLIP-seq
MIRT919667	hsa-miR-3666	CLIP-seq
MIRT919668	hsa-miR-369-5p	CLIP-seq
MIRT919669	hsa-miR-3941	CLIP-seq
MIRT919670	hsa-miR-4282	CLIP-seq
MIRT919671	hsa-miR-4295	CLIP-seq
MIRT919672	hsa-miR-4324	CLIP-seq
MIRT919673	hsa-miR-4424	CLIP-seq
MIRT919674	hsa-miR-4493	CLIP-seq
MIRT919675	hsa-miR-454	CLIP-seq
MIRT919676	hsa-miR-4639-5p	CLIP-seq
MIRT919677	hsa-miR-4670-3p	CLIP-seq
MIRT919678	hsa-miR-4682	CLIP-seq
MIRT919679	hsa-miR-4699-3p	CLIP-seq
MIRT919680	hsa-miR-4708-3p	CLIP-seq
MIRT919681	hsa-miR-4711-5p	CLIP-seq
MIRT919682	hsa-miR-4729	CLIP-seq
MIRT919683	hsa-miR-4738-3p	CLIP-seq
MIRT919684	hsa-miR-4742-3p	CLIP-seq
MIRT919685	hsa-miR-4778-5p	CLIP-seq
MIRT919686	hsa-miR-494	CLIP-seq
MIRT919687	hsa-miR-544	CLIP-seq
MIRT919688	hsa-miR-544b	CLIP-seq
MIRT919689	hsa-miR-548ag	CLIP-seq
MIRT919690	hsa-miR-548ai	CLIP-seq
MIRT919691	hsa-miR-579	CLIP-seq
MIRT919692	hsa-miR-603	CLIP-seq
MIRT919693	hsa-miR-641	CLIP-seq
MIRT919677	hsa-miR-4670-3p	CLIP-seq
MIRT1972628	hsa-miR-543	CLIP-seq

Show/Hide all (31)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003032	Process	Detection of oxygen	NAS	10611283
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:0005737	Component	Cytoplasm	IBA
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IDA	15131110
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006801	Process	Superoxide metabolic process	IBA
GO:0006801	Process	Superoxide metabolic process	IDA	10611283
GO:0015701	Process	Bicarbonate transport	TAS
GO:0016174	Function	NAD(P)H oxidase H2O2-forming activity	IDA	15131110
GO:0016174	Function	NAD(P)H oxidase H2O2-forming activity	IDA	10611283
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016653	Function	Oxidoreductase activity, acting on NAD(P)H, heme protein as acceptor	IDA	15131110
GO:0016653	Function	Oxidoreductase activity, acting on NAD(P)H, heme protein as acceptor	IEA
GO:0020037	Function	Heme binding	IBA
GO:0020037	Function	Heme binding	IEA
GO:0030073	Process	Insulin secretion	IEA
GO:0030073	Process	Insulin secretion	ISS
GO:0042593	Process	Glucose homeostasis	IEA
GO:0042593	Process	Glucose homeostasis	ISS
GO:0046677	Process	Response to antibiotic	IEA
GO:0046677	Process	Response to antibiotic	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0048468	Process	Cell development	IEA
GO:0048468	Process	Cell development	ISS
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	10611283
GO:0072593	Process	Reactive oxygen species metabolic process	IDA	15131110

MIM	HGNC	e!Ensembl
608343	20147	ENSG00000065615

Q7L1T6

Protein name

Cytochrome b5 reductase 4 (EC 1.6.2.2) (Flavohemoprotein b5/b5R) (b5+b5R) (N-terminal cytochrome b5 and cytochrome b5 oxidoreductase domain-containing protein) (cb5/cb5R)

Protein function

NADH-cytochrome b5 reductase involved in endoplasmic reticulum stress response pathway. Plays a critical role in protecting pancreatic beta-cells against oxidant stress, possibly by protecting the cell from excess buildup of reactive oxygen spec

PDB

3LF5 , 6MV1 , 6MV2

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00173	Cyt-b5	58 → 130	Cytochrome b5-like Heme/Steroid binding domain	Domain
PF04969	CS	168 → 246	CS domain	Domain
PF00970	FAD_binding_6	277 → 384	Oxidoreductase FAD-binding domain	Domain
PF00175	NAD_binding_1	395 → 503	Oxidoreductase NAD-binding domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:10611283}.

Sequence

MLNVPSQSFPAPRSQQRVASGGRSKVPLKQGRSLMDWIRLTKSGKDLTGLKGRLIEVTEE
ELKKHNKKDDCWICIRGFVYNVSPYMEYHPGGEDELMRAAGSDGTELFDQVHRWVNYESM
LKECLVGRMAIKPAVLKDYREEEKKVLNGMLPKSQVTDTLAKEGPSYPSYDWFQTDSLVT
IAIYTKQKDINLDSIIVDHQNDSFRAETIIKDCLYLIHIGLSHEVQEDFSVRVVESVGKI
EIVLQKKENTSWDFLGHPLKNHNSLIPRKDTGLYYRKCQLISKEDVTHDTRLFCLMLPPS
THLQVPIGQHVYLKLPITGTEIVKPYTPVSGSLLSEFKEPVLPNNKYIYFLIKIYPTGLF
TPELDRLQIGDFVSVSSPEGNFKISKFQELEDLFLLAAGTGFTPMVKILNYALTDIPSLR
KVKLMFFNKTEDDIIWRSQLEKLAFKDKRLDVEFVLSAPISEWNGKQGHISPALLSEFLK
RNLDKSKVLVCICGPVPFTEQGVRLLHDLNFSKNEIHSFTA

Sequence length

521

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 (4)

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.
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEWY BODY DEMENTIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OCULAR SARCOIDOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (5)

Disease Name	Disease (Merged)	Source	PMID	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Diabetes	Diabetes	BEFREE	15247412, 15504981	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	15247412, 15504981	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	15504981	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Maturity onset diabetes mellitus in young	Mason type diabetes	BEFREE	15504981	★★★★★ ★☆☆☆☆ Found in Text Mining only

CYB5R4 (cytochrome b5 reductase 4)