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

Gene ID: 124936, updated on 1-Aug-2020

Summary

Official Symbol
CYB5D2provided by HGNC
Official Full Name
cytochrome b5 domain containing 2provided by HGNC
Primary source
HGNC:HGNC:28471
See related
Ensembl:ENSG00000167740
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
Expression
Ubiquitous expression in testis (RPKM 7.4), kidney (RPKM 6.3) and 25 other tissues See more
Orthologs

Genomic context

See CYB5D2 in Genome Data Viewer
Location:
17p13.2
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (4143117..4157701)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (4046441..4060995)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1975 Neighboring gene zinc finger ZZ-type and EF-hand domain containing 1 Neighboring gene RNA, 5S ribosomal pseudogene 434 Neighboring gene ankyrin repeat and FYVE domain containing 1 Neighboring gene stem-loop binding protein pseudogene Neighboring gene RYK pseudogene 1

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

NHGRI 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.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC32124

Gene Ontology Provided by GOA

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

General protein information

Preferred Names
neuferricin
Names
cytochrome b5 domain-containing protein 2

NCBI Reference Sequences (RefSeq)

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_001254755.2NP_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_001254756.1NP_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_144611.4NP_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
    Q8WUJ1
    Related
    ENSP00000301391.3, ENST00000301391.7
    Conserved Domains (1) summary
    pfam00173
    Location:40100
    Cyt-b5; Cytochrome b5-like Heme/Steroid binding domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20200522

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    4143117..4157701
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017024180.1XP_016879669.1  neuferricin isoform X2

    UniProtKB/Swiss-Prot
    Q8WUJ1
  2. XM_011523649.2XP_011521951.1  neuferricin isoform X2

    See identical proteins and their annotated locations for XP_011521951.1

    UniProtKB/Swiss-Prot
    Q8WUJ1
  3. XM_017024183.2XP_016879672.1  neuferricin isoform X3

  4. XM_017024182.2XP_016879671.1  neuferricin isoform X2

    UniProtKB/Swiss-Prot
    Q8WUJ1
  5. XM_006721447.3XP_006721510.2  neuferricin isoform X1

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