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Aliases for CYB5D2 Gene

Aliases for CYB5D2 Gene

  • Cytochrome B5 Domain Containing 2 2 3 5
  • Cytochrome B5 Domain-Containing Protein 2 3 4
  • Neuferricin 2 3

External Ids for CYB5D2 Gene

Previous GeneCards Identifiers for CYB5D2 Gene

  • GC17P003994
  • GC17P004046

Summaries for CYB5D2 Gene

GeneCards Summary for CYB5D2 Gene

CYB5D2 (Cytochrome B5 Domain Containing 2) is a Protein Coding gene. GO annotations related to this gene include heme binding. An important paralog of this gene is NENF.

UniProtKB/Swiss-Prot for CYB5D2 Gene

  • Heme-binding protein which promotes neuronal but not astrocyte differentiation.

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CYB5D2 Gene

Genomics for CYB5D2 Gene

Regulatory Elements for CYB5D2 Gene

Enhancers for CYB5D2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17G004099 1.6 Ensembl ENCODE dbSUPER 25 -41.8 -41839 2.7 HDGF ARNT MLX ARID4B ZNF2 ZNF766 ZNF143 KLF13 SP5 MXD4 CYB5D2 ZZEF1 ATP2A3 GC17P004083
GH17G004133 1.7 Ensembl ENCODE dbSUPER 22.8 -3.6 -3626 12.4 AGO1 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 SP3 NFYC TBX21 ZFP41 CYB5D2 LOC101927979 ZNF232 ZZEF1 ANKFY1 GC17P004083
GH17G004159 1.6 FANTOM5 Ensembl ENCODE 18.6 +18.9 18944 5.5 PKNOX1 SIN3A FEZF1 ZNF2 ZNF121 GATA2 FOS DEK ZHX2 TSHZ1 CYB5D2 ZZEF1 ANKFY1 ENSG00000263165 PIR41779
GH17G004325 1.4 Ensembl ENCODE dbSUPER 17.8 +185.0 185005 4.9 TBP PKNOX1 ARNT SIN3A INSM2 KLF17 FEZF1 BRCA1 ZNF2 RFX5 CYB5D2 ZZEF1 GC17P004330 GC17P004302
GH17G004073 0.9 ENCODE 24.7 -68.9 -68857 2.5 HDGF PKNOX1 TBL1XR1 KLF17 SIN3A BMI1 RAD21 YY1 ZNF121 ZNF207 CYB5D2 ZZEF1 ATP2A3 GC17M004067 RNA5SP434
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CYB5D2 on UCSC Golden Path with GeneCards custom track

Promoters for CYB5D2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000090423 32 2401 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 SP3 NFYC TBX21 ZFP41 MEF2D

Genomic Location for CYB5D2 Gene

Chromosome:
17
Start:
4,143,168 bp from pter
End:
4,187,310 bp from pter
Size:
44,143 bases
Orientation:
Plus strand

Genomic View for CYB5D2 Gene

Genes around CYB5D2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CYB5D2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CYB5D2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CYB5D2 Gene

Proteins for CYB5D2 Gene

  • Protein details for CYB5D2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WUJ1-NEUFC_HUMAN
    Recommended name:
    Neuferricin
    Protein Accession:
    Q8WUJ1
    Secondary Accessions:
    • B2R7R6
    • D3DTJ9
    • I3L1K2

    Protein attributes for CYB5D2 Gene

    Size:
    264 amino acids
    Molecular mass:
    28690 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for CYB5D2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CYB5D2 Gene

Post-translational modifications for CYB5D2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CYB5D2 Gene

Domains & Families for CYB5D2 Gene

Gene Families for CYB5D2 Gene

Protein Domains for CYB5D2 Gene

Suggested Antigen Peptide Sequences for CYB5D2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8WUJ1

UniProtKB/Swiss-Prot:

NEUFC_HUMAN :
  • The cytochrome b5 heme-binding domain was proven to bind heme, although it lacks the conserved iron-binding His residues at position 73 and 106.
  • Belongs to the cytochrome b5 family. MAPR subfamily.
Domain:
  • The cytochrome b5 heme-binding domain was proven to bind heme, although it lacks the conserved iron-binding His residues at position 73 and 106.
Family:
  • Belongs to the cytochrome b5 family. MAPR subfamily.
genes like me logo Genes that share domains with CYB5D2: view

Function for CYB5D2 Gene

Molecular function for CYB5D2 Gene

UniProtKB/Swiss-Prot Function:
Heme-binding protein which promotes neuronal but not astrocyte differentiation.

Gene Ontology (GO) - Molecular Function for CYB5D2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0020037 heme binding IEA,IBA --
genes like me logo Genes that share ontologies with CYB5D2: view
genes like me logo Genes that share phenotypes with CYB5D2: view

Animal Models for CYB5D2 Gene

MGI Knock Outs for CYB5D2:

Animal Model Products

  • Taconic Biosciences Mouse Models for CYB5D2

CRISPR Products

miRNA for CYB5D2 Gene

miRTarBase miRNAs that target CYB5D2

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CYB5D2 Gene

Localization for CYB5D2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CYB5D2 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
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 CYB5D2 gene
Compartment Confidence
extracellular 5
cytoskeleton 2
nucleus 2
cytosol 2
endoplasmic reticulum 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for CYB5D2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0012505 endomembrane system IBA --
GO:0016020 membrane IBA --
genes like me logo Genes that share ontologies with CYB5D2: view

Pathways & Interactions for CYB5D2 Gene

SuperPathways for CYB5D2 Gene

No Data Available

Interacting Proteins for CYB5D2 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000301391%0d%0a9606.ENSP00000331258%0d%0a9606.ENSP00000390784%0d%0a
Selected Interacting proteins: ENSP00000301391 Q8WUJ1-NEUFC_HUMAN for CYB5D2 Gene via STRING IID

Gene Ontology (GO) - Biological Process for CYB5D2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007399 nervous system development IEA --
GO:0045666 positive regulation of neuron differentiation IEA --
genes like me logo Genes that share ontologies with CYB5D2: view

No data available for Pathways by source and SIGNOR curated interactions for CYB5D2 Gene

Drugs & Compounds for CYB5D2 Gene

(1) Drugs for CYB5D2 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 CYB5D2: view

Transcripts for CYB5D2 Gene

Unigene Clusters for CYB5D2 Gene

Cytochrome b5 domain containing 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CYB5D2 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c · 8d · 8e · 8f
SP1: - - - - - - -
SP2: - - - - - - - -
SP3: - - - - - - -
SP4: - - - -
SP5: - - - - -
SP6: - -
SP7: -
SP8: -

Relevant External Links for CYB5D2 Gene

GeneLoc Exon Structure for
CYB5D2
ECgene alternative splicing isoforms for
CYB5D2

Expression for CYB5D2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CYB5D2 Gene

Protein differential expression in normal tissues from HIPED for CYB5D2 Gene

This gene is overexpressed in Bone (66.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CYB5D2 Gene



Protein tissue co-expression partners for CYB5D2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CYB5D2 Gene:

CYB5D2

SOURCE GeneReport for Unigene cluster for CYB5D2 Gene:

Hs.513871

Evidence on tissue expression from TISSUES for CYB5D2 Gene

  • Nervous system(4.6)
  • Skin(4.2)
  • Intestine(4.1)
genes like me logo Genes that share expression patterns with CYB5D2: view

Primer Products

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 CYB5D2 Gene

Orthologs for CYB5D2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CYB5D2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LOC454442 34
  • 98.77 (n)
cow
(Bos Taurus)
Mammalia CYB5D2 34 35
  • 85.77 (n)
rat
(Rattus norvegicus)
Mammalia Cyb5d2 34
  • 82.49 (n)
mouse
(Mus musculus)
Mammalia Cyb5d2 34 16 35
  • 81.92 (n)
dog
(Canis familiaris)
Mammalia CYB5D2 34 35
  • 80.97 (n)
oppossum
(Monodelphis domestica)
Mammalia CYB5D2 35
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves CYB5D2 34 35
  • 65.8 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia cyb5d2 34
  • 57.25 (n)
zebrafish
(Danio rerio)
Actinopterygii cyb5d2 34 35
  • 55.66 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG12056 34 35
  • 50.76 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001042 34
  • 46.99 (n)
worm
(Caenorhabditis elegans)
Secernentea tag-131 34 35
  • 50.44 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons MAPR4 34
  • 46.97 (n)
rice
(Oryza sativa)
Liliopsida Os03g0205500 34
  • 42.05 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9270 35
  • 38 (a)
OneToMany
Species where no ortholog for CYB5D2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 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 CYB5D2 Gene

ENSEMBL:
Gene Tree for CYB5D2 (if available)
TreeFam:
Gene Tree for CYB5D2 (if available)

Paralogs for CYB5D2 Gene

Paralogs for CYB5D2 Gene

(1) SIMAP similar genes for CYB5D2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with CYB5D2: view

Variants for CYB5D2 Gene

Sequence variations from dbSNP and Humsavar for CYB5D2 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs200936057 A colorectal cancer sample 4,143,774(+) GAGGC(C/G/T)GTGGG intron-variant, upstream-variant-2KB, reference, missense
VAR_037488 A colorectal cancer sample
rs1000365433 -- 4,157,897(+) CAGCT(C/T)CCTTT downstream-variant-500B
rs1000396584 -- 4,158,081(+) AGACC(C/G/T)GTGCT downstream-variant-500B
rs1000496539 -- 4,151,779(+) GTGGT(C/T)GGATC intron-variant, downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for CYB5D2 Gene

Variant ID Type Subtype PubMed ID
dgv173n21 CNV gain 19592680
dgv3086n100 CNV gain 25217958
dgv557e214 CNV gain 21293372
esv2751682 CNV gain 17911159
esv29231 CNV loss 19812545
esv3395066 CNV insertion 20981092
nsv1065237 CNV gain 25217958
nsv1065665 CNV gain 25217958
nsv457647 CNV gain 19166990
nsv519311 CNV loss 19592680
nsv527709 CNV loss 19592680
nsv574266 CNV gain 21841781
nsv833344 CNV gain 17160897

Variation tolerance for CYB5D2 Gene

Residual Variation Intolerance Score: 83.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.57; 30.28% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CYB5D2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CYB5D2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CYB5D2 Gene

Disorders for CYB5D2 Gene

Relevant External Links for CYB5D2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CYB5D2

No disorders were found for CYB5D2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CYB5D2 Gene

Publications for CYB5D2 Gene

  1. Neuferricin, a novel extracellular heme-binding protein, promotes neurogenesis. (PMID: 19968755) Kimura I. … Fujimoto M. (J. Neurochem. 2010) 2 3 64
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
  3. Genetic predictors of risk and resilience in psychiatric disorders: A cross-disorder genome-wide association study of functional impairment in major depressive disorder, bipolar disorder, and schizophrenia. (PMID: 24039173) McGrath L.M. … Smoller J.W. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2013) 3 64
  4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3 64
  5. Identification of intrahepatic cholangiocarcinoma related genes by comparison with normal liver tissues using expressed sequence tags. (PMID: 16712791) Wang A.G. … Kim N.S. (Biochem. Biophys. Res. Commun. 2006) 3 64

Products for CYB5D2 Gene

Sources for CYB5D2 Gene

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