Aliases for CYB561 Gene

Aliases for CYB561 Gene

  • Cytochrome B561 2 3 4 5
  • Cytochrome B561 Family, Member A1 2 3
  • Ferric-Chelate Reductase 2 2 3
  • Cytochrome B-561 3 4
  • CYB561A1 2 3
  • FRRS2 2 3
  • ORTHYP2 3
  • CYB561 5

External Ids for CYB561 Gene

Previous GeneCards Identifiers for CYB561 Gene

  • GC17M061161
  • GC17M063936
  • GC17M061850
  • GC17M061983
  • GC17M058863
  • GC17M061509
  • GC17M056878

Summaries for CYB561 Gene

GeneCards Summary for CYB561 Gene

CYB561 (Cytochrome B561) is a Protein Coding gene. Diseases associated with CYB561 include Orthostatic Hypotension 2 and Dopamine Beta-Hydroxylase Deficiency. Gene Ontology (GO) annotations related to this gene include ferric-chelate reductase activity and obsolete transmembrane electron transfer carrier. An important paralog of this gene is CYB561A3.

UniProtKB/Swiss-Prot Summary for CYB561 Gene

Gene Wiki entry for CYB561 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CYB561 Gene

Genomics for CYB561 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CYB561 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J063444 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 268.8 -0.1 -52 4.3 ZNF207 NCOR1 IKZF1 MYC ZNF592 NFIC POLR2A YY1 ZNF217 NONO CYB561 lnc-STRADA-4 lnc-TANC2-3 FTSJ3 MAP3K3 ENSG00000265971 HSALNG0117998 ACE
GH17J063438 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE dbSUPER 280.6 +6.8 6769 2.4 YY1 MLLT1 CTCF ZBTB33 GATA2 HNRNPL ESRRA MTA1 IKZF1 HIC1 CYB561 ENSG00000265971 piR-51111 lnc-STRADA-4 TANC2
GH17J063437 Promoter/Enhancer 0.9 EPDnew dbSUPER 250.4 +9.1 9058 0.1 ZNF592 ZBTB10 MBD2 EP400 EGR1 L3MBTL2 CREM ZNF184 NFRKB RB1 piR-51111 CYB561 lnc-STRADA-4 TANC2
GH17J063431 Promoter/Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 23.1 +12.3 12297 6.2 IKZF1 MYC NCOR1 ZNF600 JUND ZNF592 CEBPA ZNF223 ZSCAN16 NFIC CYB561 DDX42 FTSJ3 PPIAP55 ACE SMARCD2 TACO1 ENSG00000265282 piR-51111 lnc-STRADA-4
GH17J062964 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 16.7 +479.6 479614 4.4 MYC ZNF654 ZNF600 JUND ZNF580 ATF2 CEBPA POLR2A ZIC2 ZBTB10 TANC2 CYB561 TLK2 DDX42 ENSG00000265971 ENSG00000283538
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CYB561 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CYB561

Top Transcription factor binding sites by QIAGEN in the CYB561 gene promoter:
  • Bach1
  • GR
  • GR-alpha
  • Max1
  • Nkx2-5

Genomic Locations for CYB561 Gene

Latest Assembly
14,336 bases
Minus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
14,336 bases
Minus strand

(GRCh37/hg19 by Ensembl)
14,075 bases
Minus strand

Genomic View for CYB561 Gene

Genes around CYB561 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CYB561 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CYB561 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CYB561 Gene

Proteins for CYB561 Gene

  • Protein details for CYB561 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Cytochrome b561
    Protein Accession:
    Secondary Accessions:
    • B2RE96
    • B7Z775
    • D3DU11
    • Q5BJG9
    • Q9BU05
    • Q9BWR9

    Protein attributes for CYB561 Gene

    251 amino acids
    Molecular mass:
    27559 Da
    Name=heme; Xref=ChEBI:CHEBI:30413;
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for CYB561 Gene


neXtProt entry for CYB561 Gene

Post-translational modifications for CYB561 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CYB561 Gene

Domains & Families for CYB561 Gene

Gene Families for CYB561 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters

Protein Domains for CYB561 Gene

  • Cytochrome b561 / ferric reductase transmembrane

Suggested Antigen Peptide Sequences for CYB561 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ52875, highly similar to Cytochrome b561 domain-containing protein 1 (B7Z775_HUMAN)
  • Cytochrome b-561 (CY561_HUMAN)
genes like me logo Genes that share domains with CYB561: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CYB561 Gene

Function for CYB561 Gene

Molecular function for CYB561 Gene

UniProtKB/Swiss-Prot Function:
Secretory vesicle-specific electron transport protein.
GENATLAS Biochemistry:
cytochrome b561 (30kDaA), specific to catecholamine and neuropeptide secretory vesicles of neuroendocrine tissues

Phenotypes From GWAS Catalog for CYB561 Gene

Gene Ontology (GO) - Molecular Function for CYB561 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000293 ferric-chelate reductase activity IEA,ISS 14499595
GO:0005515 protein binding IPI 25416956
GO:0016491 oxidoreductase activity IEA,IBA 21873635
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with CYB561: view
genes like me logo Genes that share phenotypes with CYB561: view

Human Phenotype Ontology for CYB561 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CYB561 Gene

MGI Knock Outs for CYB561:
  • Cyb561 Cyb561<tm1a(EUCOMM)Wtsi>
  • Cyb561 Cyb561<tm1b(EUCOMM)Wtsi>

Animal Models for research

  • Taconic Biosciences Mouse Models for CYB561

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CYB561

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CYB561 Gene

Localization for CYB561 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CYB561 Gene

Cytoplasmic vesicle, secretory vesicle membrane. Multi-pass membrane protein. Note=Secretory vesicle containing catecholamines and amidated peptides. {ECO:0000250 UniProtKB:P10897}.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CYB561 gene
Compartment Confidence
plasma membrane 3
lysosome 3
extracellular 1
mitochondrion 1
cytosol 1

Gene Ontology (GO) - Cellular Components for CYB561 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005765 lysosomal membrane IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA,NAS 7559396
GO:0030658 transport vesicle membrane IEA --
GO:0031410 cytoplasmic vesicle IEA --
genes like me logo Genes that share ontologies with CYB561: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CYB561 Gene

Pathways & Interactions for CYB561 Gene

PathCards logo

SuperPathways for CYB561 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CYB561 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0022900 electron transport chain IEA,NAS 7559396
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with CYB561: view

No data available for Pathways by source and SIGNOR curated interactions for CYB561 Gene

Drugs & Compounds for CYB561 Gene

(6) Drugs for CYB561 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
heme Pharma 0

(4) Additional Compounds for CYB561 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CYB561: view

Transcripts for CYB561 Gene

mRNA/cDNA for CYB561 Gene

15 NCBI additional mRNA sequence :
21 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CYB561

Alternative Splicing Database (ASD) splice patterns (SP) for CYB561 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c · 6d ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c ^ 10a · 10b · 10c ^ 11a · 11b ·
SP1: - - - - - -
SP2: - - - - - - - - - - -
SP3: - - - - - - - - - - - -
SP4: - - - - - - - - - - -
SP5: - - - - - - - -
SP6: - - - - - - - - -
SP7: - - - - - - -
SP8: - - -
SP9: - - - - - - - - - - - -
SP10: - - - - - - - - - - - - -
SP11: - - - - - - - - - - - -
SP12: - - - - - - - -
SP13: - - - - -
SP14: - - - - - - - -
SP15: - - - - - - - - -
SP18: - - - - - -

ExUns: 11c ^ 12a · 12b · 12c · 12d · 12e · 12f · 12g · 12h · 12i · 12j · 12k ^ 13
SP1: -
SP2: -
SP3: -
SP4: - - - - - - - - - - -
SP5: -
SP6: -
SP7: -
SP8: -
SP10: -
SP16: -

Relevant External Links for CYB561 Gene

GeneLoc Exon Structure for

Expression for CYB561 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CYB561 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CYB561 Gene

This gene is overexpressed in Pancreas (x4.4).

Protein differential expression in normal tissues from HIPED for CYB561 Gene

This gene is overexpressed in Nasal epithelium (36.8) and Oral epithelium (12.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CYB561 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CYB561

SOURCE GeneReport for Unigene cluster for CYB561 Gene:


mRNA Expression by UniProt/SwissProt for CYB561 Gene:

Tissue specificity: Expressed in many tissues, in particular the brain especially in the cortex and hippocampus.

Evidence on tissue expression from TISSUES for CYB561 Gene

  • Nervous system(4.9)
  • Lung(4.7)
  • Blood(4.2)
  • Adrenal gland(2.5)
genes like me logo Genes that share expression patterns with CYB561: view

Primer products for research

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for CYB561 Gene

Orthologs for CYB561 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CYB561 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia CYB561 29 30
  • 99.07 (n)
(Canis familiaris)
Mammalia CYB561 29 30
  • 87.92 (n)
(Bos Taurus)
Mammalia CYB561 29 30
  • 86.59 (n)
(Mus musculus)
Mammalia Cyb561 29 16 30
  • 86.36 (n)
(Rattus norvegicus)
Mammalia Cyb561 29
  • 84.53 (n)
(Monodelphis domestica)
Mammalia CYB561 30
  • 79 (a)
(Gallus gallus)
Aves CYB561 29 30
  • 73.65 (n)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cyb561 29
  • 61.37 (n)
Str.125 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.27548 29
(Danio rerio)
Actinopterygii cyb561 29 30
  • 61.58 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG1275 30 31
  • 26 (a)
nemy 30
  • 21 (a)
(Caenorhabditis elegans)
Secernentea CELE_F55H2.5 29
  • 46.38 (n)
F55H2.5 30 31
  • 31 (a)
F39G3.5 30
  • 23 (a)
F39G3.4 30
  • 18 (a)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons ACYB-2 29
  • 46.58 (n)
(Oryza sativa)
Liliopsida Os10g0504200 29
  • 48.92 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 40 (a)
Species where no ortholog for CYB561 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for CYB561 Gene

Gene Tree for CYB561 (if available)
Gene Tree for CYB561 (if available)
Evolutionary constrained regions (ECRs) for CYB561: view image
Alliance of Genome Resources:
Additional Orthologs for CYB561

Paralogs for CYB561 Gene

Paralogs for CYB561 Gene

(2) SIMAP similar genes for CYB561 Gene using alignment to 11 proteins:

  • CY561_HUMAN
  • B7Z775_HUMAN
  • F5H757_HUMAN
  • J3QR25_HUMAN
  • J3QS09_HUMAN
  • J3QS47_HUMAN
genes like me logo Genes that share paralogs with CYB561: view

Variants for CYB561 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CYB561 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs1437737028 Pathogenic: Orthostatic hypotension 2 63,437,417(-) C/T
NM_001915.4(CYB561):c.131G>A (p.Trp44Ter)
rs772361572 Pathogenic: Orthostatic hypotension 2. Orthostatic hypotension 2 (ORTHYP2) [MIM:618182] 63,436,093(-) C/Tp.Gly88Arg
NM_001915.4(CYB561):c.262G>A (p.Gly88Arg)

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CYB561 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CYB561 Gene

Variant ID Type Subtype PubMed ID
nsv1064059 CNV gain 25217958
nsv952354 CNV deletion 24416366

Variation tolerance for CYB561 Gene

Residual Variation Intolerance Score: 65.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.02; 20.97% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CYB561 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
Leiden Open Variation Database (LOVD)

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CYB561 Gene

Disorders for CYB561 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CYB561 Gene - From: OMI, CVR, GTR, SWI, COP, and GCD

Disorder Aliases PubMed IDs
orthostatic hypotension 2
  • orthyp2
dopamine beta-hydroxylase deficiency
  • congenital dopamine beta-hydroxylase deficiency
- elite association - COSMIC cancer census association via MalaCards


  • Orthostatic hypotension 2 (ORTHYP2) [MIM:618182]: An autosomal recessive disorder characterized by severe orthostatic hypotension apparent from infancy or early childhood, low plasma and urinary levels of norepinephrine and epinephrine, and episodic hypoglycemia. Some patients may also have renal dysfunction and reduced life expectancy. Orthostatic hypotension, also known as postural hypotension, is a finding defined as a 20-mm Hg decrease in systolic pressure or a 10-mm Hg decrease in diastolic pressure occurring 3 minutes after a person has risen from supine to standing. Symptoms include dizziness, blurred vision, and sometimes syncope. {ECO:0000269 PubMed:29343526}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for CYB561

Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with CYB561: view

No data available for Genatlas for CYB561 Gene

Publications for CYB561 Gene

  1. Genetic variation within adrenergic pathways determines in vivo effects of presynaptic stimulation in humans. (PMID: 18180394) Fung MM … O'Connor DT (Circulation 2008) 3 22 40
  2. Genomic structure and expression of the human gene encoding cytochrome b561, an integral protein of the chromaffin granule membrane. (PMID: 7559396) Srivastava M (The Journal of biological chemistry 1995) 3 4 22
  3. Human cytochrome b561: a revised hypothesis for conformation in membranes which reconciles sequence and functional information. (PMID: 7980462) Srivastava M … Fleming PJ (The Biochemical journal 1994) 3 4 22
  4. The human cytochrome b561 gene (CYB561) is located at 17q11-qter. (PMID: 7959749) McBride OW … Srivastava M (Genomics 1994) 2 3 22
  5. Mutations in CYB561 Causing a Novel Orthostatic Hypotension Syndrome. (PMID: 29343526) van den Berg MP … Kema IP (Circulation research 2018) 3 4

Products for CYB561 Gene

Sources for CYB561 Gene