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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	11068
Gene name	Cytochrome b561 family member D2
Gene symbol	CYB561D2
Synonyms (NCBI Gene)	101F6TSCytbTSP10XXcos-LUCA11.4
Chromosome	3
Chromosome location	3p21.31

Show/Hide all (72)

miRTarBase ID	miRNA	Experiments	Reference
MIRT028765	hsa-miR-26b-5p	Microarray	19088304
MIRT1972409	hsa-miR-101	CLIP-seq
MIRT1972410	hsa-miR-1286	CLIP-seq
MIRT1972411	hsa-miR-1301	CLIP-seq
MIRT1972412	hsa-miR-144	CLIP-seq
MIRT1972413	hsa-miR-1827	CLIP-seq
MIRT1972414	hsa-miR-22	CLIP-seq
MIRT1972415	hsa-miR-2682	CLIP-seq
MIRT1972416	hsa-miR-3160-3p	CLIP-seq
MIRT1972417	hsa-miR-3184	CLIP-seq
MIRT1972418	hsa-miR-365	CLIP-seq
MIRT1972419	hsa-miR-423-5p	CLIP-seq
MIRT1972420	hsa-miR-4267	CLIP-seq
MIRT1972421	hsa-miR-431	CLIP-seq
MIRT1972422	hsa-miR-4312	CLIP-seq
MIRT1972423	hsa-miR-4323	CLIP-seq
MIRT1972424	hsa-miR-4487	CLIP-seq
MIRT1972425	hsa-miR-449c	CLIP-seq
MIRT1972426	hsa-miR-4645-5p	CLIP-seq
MIRT1972427	hsa-miR-4646-5p	CLIP-seq
MIRT1972428	hsa-miR-4673	CLIP-seq
MIRT1972429	hsa-miR-4688	CLIP-seq
MIRT1972430	hsa-miR-4722-5p	CLIP-seq
MIRT1972431	hsa-miR-4747-3p	CLIP-seq
MIRT1972432	hsa-miR-4768-3p	CLIP-seq
MIRT1972433	hsa-miR-4802-3p	CLIP-seq
MIRT1972434	hsa-miR-4802-5p	CLIP-seq
MIRT1972435	hsa-miR-5047	CLIP-seq
MIRT1972436	hsa-miR-556-5p	CLIP-seq
MIRT1972437	hsa-miR-558	CLIP-seq
MIRT2208114	hsa-miR-1322	CLIP-seq
MIRT2208115	hsa-miR-3150b-3p	CLIP-seq
MIRT2208116	hsa-miR-377	CLIP-seq
MIRT2208117	hsa-miR-4643	CLIP-seq
MIRT1972427	hsa-miR-4646-5p	CLIP-seq
MIRT2208118	hsa-miR-4689	CLIP-seq
MIRT2208119	hsa-miR-4784	CLIP-seq
MIRT2208120	hsa-miR-602	CLIP-seq
MIRT2208121	hsa-miR-642b	CLIP-seq
MIRT2511709	hsa-miR-1207-3p	CLIP-seq
MIRT1972417	hsa-miR-3184	CLIP-seq
MIRT2511710	hsa-miR-3929	CLIP-seq
MIRT2511711	hsa-miR-421	CLIP-seq
MIRT1972419	hsa-miR-423-5p	CLIP-seq
MIRT1972420	hsa-miR-4267	CLIP-seq
MIRT2511712	hsa-miR-4419b	CLIP-seq
MIRT2511713	hsa-miR-4478	CLIP-seq
MIRT2511714	hsa-miR-4505	CLIP-seq
MIRT1972426	hsa-miR-4645-5p	CLIP-seq
MIRT1972427	hsa-miR-4646-5p	CLIP-seq
MIRT1972428	hsa-miR-4673	CLIP-seq
MIRT1972429	hsa-miR-4688	CLIP-seq
MIRT2511715	hsa-miR-4709-5p	CLIP-seq
MIRT1972431	hsa-miR-4747-3p	CLIP-seq
MIRT2511716	hsa-miR-4747-5p	CLIP-seq
MIRT1972433	hsa-miR-4802-3p	CLIP-seq
MIRT1972434	hsa-miR-4802-5p	CLIP-seq
MIRT2511717	hsa-miR-512-5p	CLIP-seq
MIRT2511718	hsa-miR-645	CLIP-seq
MIRT2511709	hsa-miR-1207-3p	CLIP-seq
MIRT1972417	hsa-miR-3184	CLIP-seq
MIRT2511711	hsa-miR-421	CLIP-seq
MIRT1972419	hsa-miR-423-5p	CLIP-seq
MIRT1972420	hsa-miR-4267	CLIP-seq
MIRT1972426	hsa-miR-4645-5p	CLIP-seq
MIRT1972428	hsa-miR-4673	CLIP-seq
MIRT1972429	hsa-miR-4688	CLIP-seq
MIRT2511715	hsa-miR-4709-5p	CLIP-seq
MIRT1972431	hsa-miR-4747-3p	CLIP-seq
MIRT1972433	hsa-miR-4802-3p	CLIP-seq
MIRT1972434	hsa-miR-4802-5p	CLIP-seq
MIRT2511717	hsa-miR-512-5p	CLIP-seq

Show/Hide all (20)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	ISS
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0020037	Function	Heme binding	IDA	19734123
GO:0020037	Function	Heme binding	IEA
GO:0030659	Component	Cytoplasmic vesicle membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031982	Component	Vesicle	IEA
GO:0031982	Component	Vesicle	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0140571	Function	Transmembrane ascorbate ferrireductase activity	IEA
GO:0140571	Function	Transmembrane ascorbate ferrireductase activity	ISS
GO:0140575	Function	Transmembrane monodehydroascorbate reductase activity	IDA	23235316
GO:0140575	Function	Transmembrane monodehydroascorbate reductase activity	IEA
GO:0140576	Process	Ascorbate homeostasis	IDA	23235316

MIM	HGNC	e!Ensembl
607068	30253	ENSG00000114395

O14569

Protein name

Transmembrane reductase CYB561D2 (EC 7.2.1.3) (Cytochrome b561 domain-containing protein 2) (Putative tumor suppressor protein 101F6)

Protein function

Transmembrane reductase that may use ascorbate as an electron donor in the cytoplasm and transfer electrons across endoplasmic reticulum membranes to reduce monodehydro-L-ascorbate radical and iron cations Fe(3+) in the lumen of that compartment

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03188	Cytochrom_B561	47 → 184	Eukaryotic cytochrome b561	Family

Sequence

MALSAETESHIYRALRTASGAAAHLVALGFTIFVAVLARPGSSLFSWHPVLMSLAFSFLM
TEALLVFSPESSLLHSLSRKGRARCHWVLQLLALLCALLGLGLVILHKEQLGKAHLVTRH
GQAGLLAVLWAGLQCSGGVGLLYPKLLPRWPLAKLKLYHATSGLVGYLLGSASLLLGMCS
LWFTASVTGAAWYLAVLCPVLTSLVIMNQVSNAYLYRKRIQP

Sequence length

222

Interactions

View interactions

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 (2)

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.
CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (2)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Glioma	Associate	34372858	★★★★★ ★☆☆☆☆ Found in Text Mining only
Personality Disorders	Stimulate	34372858	★★★★★ ★☆☆☆☆ Found in Text Mining only

CYB561D2 (cytochrome b561 family member D2)