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Aliases for CYB561D2 Gene

Aliases for CYB561D2 Gene

  • Cytochrome B561 Family Member D2 2 3 5
  • Putative Tumor Suppressor Protein 101F6 3 4
  • 101F6 3 4
  • Cytochrome B561 Domain-Containing Protein 2 3
  • Cytochrome B-561 Domain Containing 2 2
  • Cytochrome B561 Family, Member D2 2
  • Putative Tumor Suppressor 101F6 2
  • XXcos-LUCA11.4 3
  • TSP10 3

External Ids for CYB561D2 Gene

Previous GeneCards Identifiers for CYB561D2 Gene

  • GC03P050348
  • GC03P050363
  • GC03P050388

Summaries for CYB561D2 Gene

GeneCards Summary for CYB561D2 Gene

CYB561D2 (Cytochrome B561 Family Member D2) is a Protein Coding gene. An important paralog of this gene is CYB561D1.

Additional gene information for CYB561D2 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CYB561D2 Gene

Genomics for CYB561D2 Gene

GeneHancer (GH) Regulatory Elements for CYB561D2 Gene

Promoters and enhancers for CYB561D2 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
GH03I050349 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 571.9 +0.1 122 2.5 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 POLR2B CYB561D2 NPRL2 ENSG00000272104 HYAL1 HYAL3
GH03I050332 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 21.6 -13.0 -13023 9.4 HDGF PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 SLC30A9 POLR2B ZNF766 RASSF1 RASSF1-AS1 HYAL3 CYB561D2 RBM6 SEMA3F-AS1 NICN1 RBM5 RHOA-IT1 TMEM115
GH03I050234 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 15.1 -105.4 -105439 21.2 HDGF FOXA2 PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF213 ZNF207 GNAI2 HYAL3 RBM5 SEMA3F-AS1 RBM6 HYAL1 CYB561D2 RHOA-IT1 AMT HEMK1
GH03I050154 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.1 -186.9 -186886 18.7 PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 SLC30A9 FOS SEMA3F RBM6 RBM5 MON1A GNAI2 HYAL3 CYB561D2 CCDC36 MAPKAPK3 KLHDC8B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CYB561D2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CYB561D2 gene promoter:

Genomic Locations for CYB561D2 Gene

Genomic Locations for CYB561D2 Gene
17,503 bases
Plus strand

Genomic View for CYB561D2 Gene

Genes around CYB561D2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CYB561D2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CYB561D2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CYB561D2 Gene

Proteins for CYB561D2 Gene

  • Protein details for CYB561D2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Cytochrome b561 domain-containing protein 2
    Protein Accession:
    Secondary Accessions:
    • A8K552

    Protein attributes for CYB561D2 Gene

    222 amino acids
    Molecular mass:
    23974 Da
    Name=heme; Xref=ChEBI:CHEBI:30413;
    Quaternary structure:
    No Data Available

neXtProt entry for CYB561D2 Gene

Post-translational modifications for CYB561D2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CYB561D2 Gene

No data available for DME Specific Peptides for CYB561D2 Gene

Domains & Families for CYB561D2 Gene

Gene Families for CYB561D2 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for CYB561D2 Gene


Suggested Antigen Peptide Sequences for CYB561D2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CYB561D2: view

No data available for UniProtKB/Swiss-Prot for CYB561D2 Gene

Function for CYB561D2 Gene

Phenotypes From GWAS Catalog for CYB561D2 Gene

Gene Ontology (GO) - Molecular Function for CYB561D2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with CYB561D2: view
genes like me logo Genes that share phenotypes with CYB561D2: view

Animal Model Products

miRNA for CYB561D2 Gene

miRTarBase miRNAs that target CYB561D2

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CYB561D2 Gene

Localization for CYB561D2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CYB561D2 Gene

Membrane; Multi-pass membrane protein.

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 CYB561D2 gene
Compartment Confidence
plasma membrane 3

Gene Ontology (GO) - Cellular Components for CYB561D2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CYB561D2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CYB561D2 Gene

Pathways & Interactions for CYB561D2 Gene

SuperPathways for CYB561D2 Gene

No Data Available

Interacting Proteins for CYB561D2 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
Selected Interacting proteins: O14569-C56D2_HUMAN ENSP00000232508 for CYB561D2 Gene via IID STRING

Gene Ontology (GO) - Biological Process for CYB561D2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with CYB561D2: view

No data available for Pathways by source and SIGNOR curated interactions for CYB561D2 Gene

Drugs & Compounds for CYB561D2 Gene

(1) Drugs for CYB561D2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
heme Pharma Agonist 0
genes like me logo Genes that share compounds with CYB561D2: view

Transcripts for CYB561D2 Gene

Unigene Clusters for CYB561D2 Gene

Cytochrome b561 family, member D2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CYB561D2 Gene

No ASD Table

Relevant External Links for CYB561D2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CYB561D2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CYB561D2 Gene

Protein differential expression in normal tissues from HIPED for CYB561D2 Gene

This gene is overexpressed in NK cells (8.1), Islet of Langerhans (7.8), CD8 Tcells (7.0), and Monocytes (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CYB561D2 Gene

Protein tissue co-expression partners for CYB561D2 Gene

NURSA nuclear receptor signaling pathways regulating expression of CYB561D2 Gene:


SOURCE GeneReport for Unigene cluster for CYB561D2 Gene:


Evidence on tissue expression from TISSUES for CYB561D2 Gene

  • Pancreas(4.2)
  • Nervous system(2)
genes like me logo Genes that share expression patterns with CYB561D2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CYB561D2 Gene

Orthologs for CYB561D2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CYB561D2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia CYB561D2 33
  • 99.55 (n)
(Canis familiaris)
Mammalia -- 34
  • 91 (a)
CYB561D2 33
  • 89.49 (n)
(Bos Taurus)
Mammalia CYB561D2 33 34
  • 89.94 (n)
(Mus musculus)
Mammalia Cyb561d2 33 16 34
  • 89.19 (n)
(Rattus norvegicus)
Mammalia Cyb561d2 33
  • 87.84 (n)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 80 (a)
(Monodelphis domestica)
Mammalia -- 34
  • 77 (a)
(Gallus gallus)
Aves CYB561D2 33
  • 75.17 (n)
(Anolis carolinensis)
Reptilia -- 34
  • 76 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia cyb561d2 33
  • 64.1 (n)
Str.791 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.32424 33
(Danio rerio)
Actinopterygii cyb561d2 33 34
  • 53.39 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3475 34
  • 40 (a)
Species where no ortholog for CYB561D2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CYB561D2 Gene

Gene Tree for CYB561D2 (if available)
Gene Tree for CYB561D2 (if available)

Paralogs for CYB561D2 Gene

Paralogs for CYB561D2 Gene

(1) SIMAP similar genes for CYB561D2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with CYB561D2: view

Variants for CYB561D2 Gene

Sequence variations from dbSNP and Humsavar for CYB561D2 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs1013511770 uncertain-significance, Early infantile epileptic encephalopathy 50,365,167(+) C/G/T genic_downstream_transcript_variant, genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1060504833 likely-benign, Early infantile epileptic encephalopathy 50,367,859(+) G/A genic_downstream_transcript_variant, non_coding_transcript_variant
rs1060504834 likely-benign, Early infantile epileptic encephalopathy 50,364,974(+) G/A genic_downstream_transcript_variant, genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs139125287 likely-benign, Early infantile epileptic encephalopathy 50,367,644(+) G/A genic_downstream_transcript_variant, intron_variant
rs140117542 likely-benign, Early infantile epileptic encephalopathy 50,366,152(+) G/A genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CYB561D2 Gene

Variant ID Type Subtype PubMed ID
dgv8317n54 CNV loss 21841781
esv3584502 CNV gain 24956385
nsv1072688 CNV deletion 25765185
nsv460531 CNV loss 19166990
nsv470561 CNV loss 18288195
nsv523662 CNV loss 19592680
nsv590255 CNV loss 21841781
nsv834692 CNV loss 17160897
nsv834693 CNV loss 17160897
nsv954855 CNV deletion 24416366

Variation tolerance for CYB561D2 Gene

Residual Variation Intolerance Score: 73.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.13; 22.86% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CYB561D2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CYB561D2 Gene

Disorders for CYB561D2 Gene

Additional Disease Information for CYB561D2

No disorders were found for CYB561D2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CYB561D2 Gene

Publications for CYB561D2 Gene

  1. The 630-kb lung cancer homozygous deletion region on human chromosome 3p21.3: identification and evaluation of the resident candidate tumor suppressor genes. The International Lung Cancer Chromosome 3p21.3 Tumor Suppressor Gene Consortium. (PMID: 11085536) Lerman MI … Minna JD (Cancer research 2000) 2 3 4 58
  2. Cytochromes b561: ascorbate-mediated trans-membrane electron transport. (PMID: 23249217) Asard H … Bérczi A (Antioxidants & redox signaling 2013) 2 3 58
  3. Functional expression and characterization of human 101F6 protein, a homologue of cytochrome b561 and a candidate tumor suppressor gene product. (PMID: 19734123) Recuenco MC … Tsubaki M (BioFactors (Oxford, England) 2008) 3 22 58
  4. The DNA sequence, annotation and analysis of human chromosome 3. (PMID: 16641997) Muzny DM … Gibbs RA (Nature 2006) 3 4 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for CYB561D2 Gene

Sources for CYB561D2 Gene

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