Aliases for CYB5D2 Gene

Aliases for CYB5D2 Gene

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

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. Gene Ontology (GO) annotations related to this gene include heme binding. An important paralog of this gene is PGRMC2.

UniProtKB/Swiss-Prot Summary for CYB5D2 Gene

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

Additional gene information for CYB5D2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CYB5D2 Gene

Genomics for CYB5D2 Gene

GeneHancer (GH) Regulatory Elements for CYB5D2 Gene

Promoters and enhancers for CYB5D2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CYB5D2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CYB5D2 gene promoter:
  • Egr-4
  • HNF-4alpha1
  • HNF-4alpha2
  • Nkx3-1
  • NRSF form 1
  • NRSF form 2
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c
  • ZID

Genomic Locations for CYB5D2 Gene

Genomic Locations for CYB5D2 Gene
chr17:4,143,168-4,187,310
(GRCh38/hg38)
Size:
44,143 bases
Orientation:
Plus strand
chr17:4,046,462-4,090,605
(GRCh37/hg19)
Size:
44,144 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
    Miscellaneous:
    • Non-classical progesterone receptors involved in extranuclear signaling are classified in 2 groups: the class II progestin and adipoQ receptor (PAQR) family (also called mPRs) (PAQR5, PAQR6, PAQR7, PAQR8 and PAQR9) and the b5-like heme/steroid-binding protein family (also called MAPRs) (PGRMC1, PGRMC2, NENF and CYB5D2).

    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

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for CYB5D2 Gene

Suggested Antigen Peptide Sequences for CYB5D2 Gene

GenScript: Design optimal peptide antigens:
  • Cytochrome b5 domain-containing protein 2 (NEUFC_HUMAN)

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.

Phenotypes From GWAS Catalog for CYB5D2 Gene

Gene Ontology (GO) - Molecular Function for CYB5D2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0020037 heme binding IEA --
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:
  • Cyb5d2 Cyb5d2<tm1.1(KOMP)Wtsi>

Animal Model Products

  • Taconic Biosciences Mouse Models for CYB5D2

CRISPR Products

miRNA for CYB5D2 Gene

miRTarBase miRNAs that target CYB5D2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CYB5D2

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 4
nucleus 2
cytoskeleton 1
cytosol 1
golgi apparatus 1
endoplasmic reticulum 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centrosome (2)
  • Nuclear membrane (2)
  • Nucleoli (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CYB5D2 Gene

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

Pathways & Interactions for CYB5D2 Gene

PathCards logo

SuperPathways for CYB5D2 Gene

No Data Available

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CYB5D2

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, 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

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 32
  • 98.77 (n)
cow
(Bos Taurus)
Mammalia CYB5D2 33 32
  • 85.77 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cyb5d2 32
  • 82.49 (n)
mouse
(Mus musculus)
Mammalia Cyb5d2 17 33 32
  • 81.92 (n)
dog
(Canis familiaris)
Mammalia CYB5D2 33 32
  • 80.97 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CYB5D2 33
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves CYB5D2 33 32
  • 65.8 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cyb5d2 32
  • 57.25 (n)
zebrafish
(Danio rerio)
Actinopterygii cyb5d2 33 32
  • 55.66 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG12056 33 32
  • 50.76 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001042 32
  • 46.99 (n)
worm
(Caenorhabditis elegans)
Secernentea tag-131 33 32
  • 50.44 (n)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons MAPR4 32
  • 46.97 (n)
rice
(Oryza sativa)
Liliopsida Os03g0205500 32
  • 42.05 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9270 33
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for CYB5D2: view image

Paralogs for CYB5D2 Gene

Paralogs for CYB5D2 Gene

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

  • NEUFC_HUMAN
  • I3L497_HUMAN
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 Variation AA Info Type
rs200936057 A colorectal cancer sample 4,143,774(+) C/G/T coding_sequence_variant, genic_upstream_transcript_variant, intron_variant, missense_variant, upstream_transcript_variant
VAR_037488 A colorectal cancer sample p.Arg7Pro
rs1000365433 -- 4,157,897(+) C/T downstream_transcript_variant
rs1000396584 -- 4,158,081(+) C/G/T downstream_transcript_variant
rs1000496539 -- 4,151,779(+) C/A/T downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant

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)

Additional Variant Information 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

Additional Disease Information for 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 (Journal of neurochemistry 2010) 2 3 56
  2. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 56
  3. Membrane Associated Progesterone Receptors: Promiscuous Proteins with Pleiotropic Functions - Focus on Interactions with Cytochromes P450. (PMID: 28396637) Ryu CS … Zanger UM (Frontiers in pharmacology 2017) 4 56
  4. Systematic interactome mapping of acute lymphoblastic leukemia cancer gene products reveals EXT-1 tumor suppressor as a Notch1 and FBWX7 common interactor. (PMID: 27229929) Daakour S … Twizere JC (BMC cancer 2016) 3 56
  5. CYB5D2 displays tumor suppression activities towards cervical cancer. (PMID: 26692170) Xie Y … Tang D (Biochimica et biophysica acta 2016) 3 56

Products for CYB5D2 Gene

Sources for CYB5D2 Gene