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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1528
Gene name	Cytochrome b5 type A
Gene symbol	CYB5A
Synonyms (NCBI Gene)	CYB5MCB5METAG
Chromosome	18
Chromosome location	18q22.3
Summary	The protein encoded by this gene is a membrane-bound cytochrome that reduces ferric hemoglobin (methemoglobin) to ferrous hemoglobin, which is required for stearyl-CoA-desaturase activity. Defects in this gene are a cause of type IV hereditary methemoglob

Show/Hide all (3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs794728010	T>C	Pathogenic	Splice acceptor variant
rs1555688659	T>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1555691399	C>T	Likely-pathogenic	Stop gained, coding sequence variant

192

Show/Hide all (192)

miRTarBase ID	miRNA	Experiments	Reference
MIRT023043	hsa-miR-124-3p	Microarray	18668037
MIRT054659	hsa-miR-223-3p	Luciferase reporter assayqRT-PCRWestern blot	24078287
MIRT664401	hsa-miR-106a-5p	HITS-CLIP	23824327
MIRT664400	hsa-miR-106b-5p	HITS-CLIP	23824327
MIRT664399	hsa-miR-17-5p	HITS-CLIP	23824327
MIRT664398	hsa-miR-20a-5p	HITS-CLIP	23824327
MIRT664397	hsa-miR-20b-5p	HITS-CLIP	23824327
MIRT664396	hsa-miR-519d-3p	HITS-CLIP	23824327
MIRT664395	hsa-miR-526b-3p	HITS-CLIP	23824327
MIRT664394	hsa-miR-93-5p	HITS-CLIP	23824327
MIRT664393	hsa-miR-302a-3p	HITS-CLIP	23824327
MIRT664392	hsa-miR-302b-3p	HITS-CLIP	23824327
MIRT664391	hsa-miR-302c-3p	HITS-CLIP	23824327
MIRT664390	hsa-miR-302d-3p	HITS-CLIP	23824327
MIRT664389	hsa-miR-302e	HITS-CLIP	23824327
MIRT664388	hsa-miR-372-3p	HITS-CLIP	23824327
MIRT664387	hsa-miR-373-3p	HITS-CLIP	23824327
MIRT664386	hsa-miR-520a-3p	HITS-CLIP	23824327
MIRT664385	hsa-miR-520b	HITS-CLIP	23824327
MIRT664384	hsa-miR-520c-3p	HITS-CLIP	23824327
MIRT664383	hsa-miR-520d-3p	HITS-CLIP	23824327
MIRT664382	hsa-miR-520e	HITS-CLIP	23824327
MIRT664381	hsa-miR-552-3p	HITS-CLIP	23824327
MIRT664380	hsa-miR-512-3p	HITS-CLIP	23824327
MIRT664379	hsa-miR-520g-3p	HITS-CLIP	23824327
MIRT664378	hsa-miR-520h	HITS-CLIP	23824327
MIRT664377	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT648368	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT664375	hsa-miR-378g	HITS-CLIP	23824327
MIRT664376	hsa-miR-600	HITS-CLIP	23824327
MIRT664374	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT664373	hsa-miR-4731-5p	HITS-CLIP	23824327
MIRT664372	hsa-miR-5589-5p	HITS-CLIP	23824327
MIRT664371	hsa-miR-27a-5p	HITS-CLIP	23824327
MIRT664370	hsa-miR-640	HITS-CLIP	23824327
MIRT648371	hsa-miR-562	HITS-CLIP	23824327
MIRT648370	hsa-miR-5697	HITS-CLIP	23824327
MIRT648369	hsa-miR-6814-5p	HITS-CLIP	23824327
MIRT648368	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT648367	hsa-miR-619-5p	HITS-CLIP	23824327
MIRT664401	hsa-miR-106a-5p	HITS-CLIP	23824327
MIRT664400	hsa-miR-106b-5p	HITS-CLIP	23824327
MIRT664399	hsa-miR-17-5p	HITS-CLIP	23824327
MIRT664398	hsa-miR-20a-5p	HITS-CLIP	23824327
MIRT664397	hsa-miR-20b-5p	HITS-CLIP	23824327
MIRT664396	hsa-miR-519d-3p	HITS-CLIP	23824327
MIRT664395	hsa-miR-526b-3p	HITS-CLIP	23824327
MIRT664394	hsa-miR-93-5p	HITS-CLIP	23824327
MIRT664393	hsa-miR-302a-3p	HITS-CLIP	23824327
MIRT664392	hsa-miR-302b-3p	HITS-CLIP	23824327
MIRT664391	hsa-miR-302c-3p	HITS-CLIP	23824327
MIRT664390	hsa-miR-302d-3p	HITS-CLIP	23824327
MIRT664389	hsa-miR-302e	HITS-CLIP	23824327
MIRT664388	hsa-miR-372-3p	HITS-CLIP	23824327
MIRT664387	hsa-miR-373-3p	HITS-CLIP	23824327
MIRT664386	hsa-miR-520a-3p	HITS-CLIP	23824327
MIRT664385	hsa-miR-520b	HITS-CLIP	23824327
MIRT664384	hsa-miR-520c-3p	HITS-CLIP	23824327
MIRT664383	hsa-miR-520d-3p	HITS-CLIP	23824327
MIRT664382	hsa-miR-520e	HITS-CLIP	23824327
MIRT664381	hsa-miR-552-3p	HITS-CLIP	23824327
MIRT664380	hsa-miR-512-3p	HITS-CLIP	23824327
MIRT664379	hsa-miR-520g-3p	HITS-CLIP	23824327
MIRT664378	hsa-miR-520h	HITS-CLIP	23824327
MIRT664377	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT648368	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT664375	hsa-miR-378g	HITS-CLIP	23824327
MIRT664376	hsa-miR-600	HITS-CLIP	23824327
MIRT664374	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT664373	hsa-miR-4731-5p	HITS-CLIP	23824327
MIRT664372	hsa-miR-5589-5p	HITS-CLIP	23824327
MIRT664371	hsa-miR-27a-5p	HITS-CLIP	23824327
MIRT664370	hsa-miR-640	HITS-CLIP	23824327
MIRT648371	hsa-miR-562	HITS-CLIP	23824327
MIRT648370	hsa-miR-5697	HITS-CLIP	23824327
MIRT648369	hsa-miR-6814-5p	HITS-CLIP	23824327
MIRT648368	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT648367	hsa-miR-619-5p	HITS-CLIP	23824327
MIRT755405	hsa-miR-1247-5p	Luciferase reporter assayqRT-PCR	35887024
MIRT919279	hsa-miR-1244	CLIP-seq
MIRT919280	hsa-miR-1297	CLIP-seq
MIRT919281	hsa-miR-1305	CLIP-seq
MIRT919282	hsa-miR-135a	CLIP-seq
MIRT919283	hsa-miR-135b	CLIP-seq
MIRT919284	hsa-miR-223	CLIP-seq
MIRT919285	hsa-miR-26a	CLIP-seq
MIRT919286	hsa-miR-26b	CLIP-seq
MIRT919287	hsa-miR-3616-5p	CLIP-seq
MIRT919288	hsa-miR-3647-5p	CLIP-seq
MIRT919289	hsa-miR-3908	CLIP-seq
MIRT919290	hsa-miR-3942-5p	CLIP-seq
MIRT919291	hsa-miR-4289	CLIP-seq
MIRT919292	hsa-miR-4465	CLIP-seq
MIRT919293	hsa-miR-4652-3p	CLIP-seq
MIRT919294	hsa-miR-4668-3p	CLIP-seq
MIRT919295	hsa-miR-4697-3p	CLIP-seq
MIRT919296	hsa-miR-4703-5p	CLIP-seq
MIRT919297	hsa-miR-4713-5p	CLIP-seq
MIRT919298	hsa-miR-4766-3p	CLIP-seq
MIRT919299	hsa-miR-493	CLIP-seq
MIRT919300	hsa-miR-498	CLIP-seq
MIRT919301	hsa-miR-573	CLIP-seq
MIRT919302	hsa-miR-656	CLIP-seq
MIRT919279	hsa-miR-1244	CLIP-seq
MIRT919282	hsa-miR-135a	CLIP-seq
MIRT919283	hsa-miR-135b	CLIP-seq
MIRT919284	hsa-miR-223	CLIP-seq
MIRT919287	hsa-miR-3616-5p	CLIP-seq
MIRT919288	hsa-miR-3647-5p	CLIP-seq
MIRT919289	hsa-miR-3908	CLIP-seq
MIRT919290	hsa-miR-3942-5p	CLIP-seq
MIRT919293	hsa-miR-4652-3p	CLIP-seq
MIRT919295	hsa-miR-4697-3p	CLIP-seq
MIRT919296	hsa-miR-4703-5p	CLIP-seq
MIRT919298	hsa-miR-4766-3p	CLIP-seq
MIRT919299	hsa-miR-493	CLIP-seq
MIRT919301	hsa-miR-573	CLIP-seq
MIRT2511719	hsa-miR-124	CLIP-seq
MIRT2511720	hsa-miR-142-5p	CLIP-seq
MIRT2511721	hsa-miR-2052	CLIP-seq
MIRT2511722	hsa-miR-339-3p	CLIP-seq
MIRT2511723	hsa-miR-3941	CLIP-seq
MIRT2511724	hsa-miR-4261	CLIP-seq
MIRT2511725	hsa-miR-4263	CLIP-seq
MIRT2511726	hsa-miR-4277	CLIP-seq
MIRT2511727	hsa-miR-4282	CLIP-seq
MIRT919291	hsa-miR-4289	CLIP-seq
MIRT2511728	hsa-miR-4311	CLIP-seq
MIRT2511729	hsa-miR-4477b	CLIP-seq
MIRT2511730	hsa-miR-4496	CLIP-seq
MIRT2511731	hsa-miR-4643	CLIP-seq
MIRT2511732	hsa-miR-466	CLIP-seq
MIRT919294	hsa-miR-4668-3p	CLIP-seq
MIRT2511733	hsa-miR-4672	CLIP-seq
MIRT2511734	hsa-miR-4698	CLIP-seq
MIRT2511735	hsa-miR-4789-3p	CLIP-seq
MIRT2511736	hsa-miR-494	CLIP-seq
MIRT2511737	hsa-miR-506	CLIP-seq
MIRT2511738	hsa-miR-548a-5p	CLIP-seq
MIRT2511739	hsa-miR-548ab	CLIP-seq
MIRT2511740	hsa-miR-548ak	CLIP-seq
MIRT2511741	hsa-miR-548an	CLIP-seq
MIRT2511742	hsa-miR-548b-5p	CLIP-seq
MIRT2511743	hsa-miR-548c-5p	CLIP-seq
MIRT2511744	hsa-miR-548d-5p	CLIP-seq
MIRT2511745	hsa-miR-548h	CLIP-seq
MIRT2511746	hsa-miR-548i	CLIP-seq
MIRT2511747	hsa-miR-548j	CLIP-seq
MIRT2511748	hsa-miR-548k	CLIP-seq
MIRT2511749	hsa-miR-548l	CLIP-seq
MIRT2511750	hsa-miR-548w	CLIP-seq
MIRT2511751	hsa-miR-548y	CLIP-seq
MIRT2511752	hsa-miR-559	CLIP-seq
MIRT2511753	hsa-miR-576-5p	CLIP-seq
MIRT919302	hsa-miR-656	CLIP-seq
MIRT2511719	hsa-miR-124	CLIP-seq
MIRT2511720	hsa-miR-142-5p	CLIP-seq
MIRT2511721	hsa-miR-2052	CLIP-seq
MIRT2511722	hsa-miR-339-3p	CLIP-seq
MIRT2511723	hsa-miR-3941	CLIP-seq
MIRT2511724	hsa-miR-4261	CLIP-seq
MIRT2511725	hsa-miR-4263	CLIP-seq
MIRT2511726	hsa-miR-4277	CLIP-seq
MIRT2511727	hsa-miR-4282	CLIP-seq
MIRT2511728	hsa-miR-4311	CLIP-seq
MIRT2511729	hsa-miR-4477b	CLIP-seq
MIRT2511730	hsa-miR-4496	CLIP-seq
MIRT2511731	hsa-miR-4643	CLIP-seq
MIRT2511732	hsa-miR-466	CLIP-seq
MIRT919294	hsa-miR-4668-3p	CLIP-seq
MIRT2511733	hsa-miR-4672	CLIP-seq
MIRT2511734	hsa-miR-4698	CLIP-seq
MIRT2511735	hsa-miR-4789-3p	CLIP-seq
MIRT2511736	hsa-miR-494	CLIP-seq
MIRT2511737	hsa-miR-506	CLIP-seq
MIRT2511738	hsa-miR-548a-5p	CLIP-seq
MIRT2511739	hsa-miR-548ab	CLIP-seq
MIRT2511740	hsa-miR-548ak	CLIP-seq
MIRT2511741	hsa-miR-548an	CLIP-seq
MIRT2511742	hsa-miR-548b-5p	CLIP-seq
MIRT2511743	hsa-miR-548c-5p	CLIP-seq
MIRT2511744	hsa-miR-548d-5p	CLIP-seq
MIRT2511745	hsa-miR-548h	CLIP-seq
MIRT2511746	hsa-miR-548i	CLIP-seq
MIRT2511747	hsa-miR-548j	CLIP-seq
MIRT2511748	hsa-miR-548k	CLIP-seq
MIRT2511749	hsa-miR-548l	CLIP-seq
MIRT2511750	hsa-miR-548w	CLIP-seq
MIRT2511751	hsa-miR-548y	CLIP-seq
MIRT2511752	hsa-miR-559	CLIP-seq
MIRT2511753	hsa-miR-576-5p	CLIP-seq
MIRT919302	hsa-miR-656	CLIP-seq

Show/Hide all (16)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005737	Component	Cytoplasm	IEA
GO:0005741	Component	Mitochondrial outer membrane	TAS
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IDA	22375059
GO:0016020	Component	Membrane	IEA
GO:0019899	Function	Enzyme binding	IPI	15680923
GO:0020037	Function	Heme binding	IBA
GO:0020037	Function	Heme binding	IEA
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA
GO:0046872	Function	Metal ion binding	IEA

MIM	HGNC	e!Ensembl
613218	2570	ENSG00000166347

P00167

Protein name

Cytochrome b5 (Microsomal cytochrome b5 type A) (MCB5)

Protein function

Cytochrome b5 is a membrane-bound hemoprotein functioning as an electron carrier for several membrane-bound oxygenases.

PDB

2I96

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00173	Cyt-b5	13 → 85	Cytochrome b5-like Heme/Steroid binding domain	Domain

Sequence

MAEQSDEAVKYYTLEEIQKHNHSKSTWLILHHKVYDLTKFLEEHPGGEEVLREQAGGDAT
ENFEDVGHSTDAREMSKTFIIGELHPDDRPKLNKPPETLITTIDSSSSWWTNWVIPAISA
VAVALMYRLYMAED

Sequence length

134

Interactions

View interactions

	Reactome
			Vitamin C (ascorbate) metabolism Insertion of tail-anchored proteins into the endoplasmic reticulum membrane

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Methemoglobinemia type 4	Pathogenic; Likely pathogenic	rs794728010, rs1555691399, rs1555688659	RCV000000254 RCV000627675 RCV000627676

Show/Hide Unknown Diseases (16)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs146344037	RCV005927996
Adrenocortical carcinoma, hereditary	Benign	rs7238987	RCV005928002
Cervical cancer	Benign	rs150530087	RCV005928110
Cholangiocarcinoma	Benign	rs7238987	RCV005928005
Colorectal cancer	Benign	rs7238987	RCV005928003
CYB5A-related disorder	Likely benign	rs201644903	RCV003975738
Familial cancer of breast	Benign	rs150530087, rs146344037	RCV005928108 RCV005927995
Gastric cancer	Benign	rs150530087	RCV005928111
Lung cancer	Benign	rs146344037	RCV005928000
Malignant lymphoma, large B-cell, diffuse	Benign	rs146344037	RCV005927997
Malignant tumor of esophagus	Benign	rs150530087	RCV005928109
Melanoma	Uncertain significance	rs760465035	RCV005922706
Ovarian serous cystadenocarcinoma	Benign	rs150530087, rs146344037	RCV005928112 RCV005927999
Sarcoma	Benign	rs146344037	RCV005927998
Thymoma	Benign	rs7238987	RCV005928004
Uterine corpus endometrial carcinoma	Benign	rs146344037	RCV005928001

Show/Hide Text Mining Associations (23)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
17 20 Lyase Deficiency Isolated	Associate	22170710
Adrenal Gland Neoplasms	Associate	37543511
Adrenal Hyperplasia Congenital	Associate	28609197, 34616364
Adrenal Rest Tumor	Associate	34616364
Arthritis Rheumatoid	Associate	25890314
Breast Neoplasms	Associate	25225034
Carcinoma Hepatocellular	Associate	19161326, 39251909
Carcinoma Pancreatic Ductal	Inhibit	24301457
Carcinoma Renal Cell	Associate	35140327
Congenital adrenal hyperplasia due to 11 Beta hydroxylase deficiency	Associate	28609197
Diabetes Mellitus Type 2	Associate	24151200
Disorder of Sex Development 46 XY	Associate	22170710
Eosinophilic Esophagitis	Associate	35043601
Fibrocystic Breast Disease	Associate	21447608, 25225034
Hyperaldosteronism	Associate	21248073
Hypokalemia	Associate	28609197
Metabolism Inborn Errors	Associate	2107882
Neoplasms	Inhibit	37543511
Neoplasms Adipose Tissue	Associate	24151200
Neoplastic Syndromes Hereditary	Associate	2107882
Obesity	Associate	35043601
Pancreatic Neoplasms	Associate	24301457
Precursor B Cell Lymphoblastic Leukemia Lymphoma	Associate	35436854

CYB5A (cytochrome b5 type A)