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    CYB5D2 cytochrome b5 domain containing 2 [ Homo sapiens (human) ]

    Gene ID: 124936, updated on 5-Mar-2024

    Summary

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    Official Symbol
    CYB5D2provided by HGNC
    Official Full Name
    cytochrome b5 domain containing 2provided by HGNC
    Primary source
    HGNC:HGNC:28471
    See related
    Ensembl:ENSG00000167740 AllianceGenome:HGNC:28471
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Predicted to enable heme binding activity. Predicted to be involved in nervous system development. Predicted to act upstream of or within positive regulation of neuron differentiation. Predicted to be located in extracellular region. Predicted to be active in endomembrane system and membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in testis (RPKM 7.4), kidney (RPKM 6.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    17p13.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (4143168..4157701)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (4032352..4046939)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (4046462..4060995)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene zinc finger ZZ-type and EF-hand domain containing 1 Neighboring gene RNA, 5S ribosomal pseudogene 434 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11532 Neighboring gene small nucleolar RNA U13 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11533 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11534 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:4046085-4046636 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:4046637-4047189 Neighboring gene uncharacterized LOC124903898 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:4072633-4072788 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:4079793-4080294 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:4080295-4080794 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr17:4081807-4083006 Neighboring gene ankyrin repeat and FYVE domain containing 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:4089981-4090980 Neighboring gene stem-loop binding protein pseudogene Neighboring gene MPRA-validated peak2695 silencer Neighboring gene RYK pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. CYB5D2 displays tumor suppression activities towards cervical cancer. Xie Y, et al. Biochim Biophys Acta, 2016 Apr. PMID 26692170
    2. Neuferricin, a novel extracellular heme-binding protein, promotes neurogenesis. Kimura I, et al. J Neurochem, 2010 Mar. PMID 19968755
    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. McGrath LM, et al. Am J Med Genet B Neuropsychiatr Genet, 2013 Dec. PMID 24039173, Free PMC Article
    4. Systematic interactome mapping of acute lymphoblastic leukemia cancer gene products reveals EXT-1 tumor suppressor as a Notch1 and FBWX7 common interactor. Daakour S, et al. BMC Cancer, 2016 May 26. PMID 27229929, Free PMC Article
    5. Interactome Analysis of Human Phospholipase D and Phosphatidic Acid-Associated Protein Network. Kattan RE, et al. Mol Cell Proteomics, 2022 Feb. PMID 35007762, Free PMC Article

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    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.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC32124

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables heme binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in endomembrane system IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    neuferricin
    Names
    cytochrome b5 domain-containing protein 2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001254755.2 → NP_001241684.1  neuferricin isoform 2

      See identical proteins and their annotated locations for NP_001241684.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. Variants 2 and 3 encode the same isoform (2), which has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC087292, BM681125, CK821986, EB386356
      Consensus CDS
      CCDS58501.1
      UniProtKB/Swiss-Prot
      Q8WUJ1
      Related
      ENSP00000458903.1, ENST00000575251.5

    2. NM_001254756.1 → NP_001241685.1  neuferricin isoform 2

      See identical proteins and their annotated locations for NP_001241685.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. Variants 2 and 3 encode the same isoform (2), which has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC087292, BM681125, CB112805, CB129650
      Consensus CDS
      CCDS58501.1
      UniProtKB/Swiss-Prot
      Q8WUJ1
      Related
      ENSP00000458352.2, ENST00000577075.6

    3. NM_144611.4 → NP_653212.1  neuferricin isoform 1 precursor

      See identical proteins and their annotated locations for NP_653212.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC087292
      Consensus CDS
      CCDS11044.1
      UniProtKB/Swiss-Prot
      B2R7R6, D3DTJ9, I3L1K2, Q8WUJ1
      Related
      ENSP00000301391.4, ENST00000301391.8
      Conserved Domains (1) summary
      pfam00173
      Location:40 → 100
      Cyt-b5; Cytochrome b5-like Heme/Steroid binding domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      4143168..4157701
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047435333.1 → XP_047291289.1  neuferricin isoform X2

    2. XM_006721447.4 → XP_006721510.2  neuferricin isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      4032352..4046939
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054315042.1 → XP_054171017.1  neuferricin isoform X2

    2. XM_054315041.1 → XP_054171016.1  neuferricin isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8WUJ1.1 GenPept UniProtKB/Swiss-Prot:Q8WUJ1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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