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CYB5R2 cytochrome b5 reductase 2 [ Homo sapiens (human) ]

Gene ID: 51700, updated on 11-Sep-2019

Summary

Official Symbol
CYB5R2provided by HGNC
Official Full Name
cytochrome b5 reductase 2provided by HGNC
Primary source
HGNC:HGNC:24376
See related
Ensembl:ENSG00000166394 MIM:608342
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
B5R.2
Summary
The protein encoded by this gene belongs to the flavoprotein pyridine nucleotide cytochrome reductase family of proteins. Cytochrome b-type NAD(P)H oxidoreductases are implicated in many processes including cholesterol biosynthesis, fatty acid desaturation and elongation, and respiratory burst in neutrophils and macrophages. Cytochrome b5 reductases have soluble and membrane-bound forms that are the product of alternative splicing. In animal cells, the membrane-bound form binds to the endoplasmic reticulum, where it is a member of a fatty acid desaturation complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
Expression
Biased expression in testis (RPKM 34.1), skin (RPKM 7.5) and 8 other tissues See more
Orthologs

Genomic context

See CYB5R2 in Genome Data Viewer
Location:
11p15.4
Exon count:
12
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (7665095..7678569, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (7686326..7695807, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene olfactomedin like 1 Neighboring gene PPFIA binding protein 2 Neighboring gene uncharacterized LOC105376535 Neighboring gene uncharacterized LOC105376533 Neighboring gene ovochymase 2 (gene/pseudogene) Neighboring gene olfactory receptor family 10 subfamily AB member 1 pseudogene

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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association analysis of blood-pressure traits in African-ancestry individuals reveals common associated genes in African and non-African populations.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ12494

Gene Ontology Provided by GOA

Function Evidence Code Pubs
FAD binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytochrome-b5 reductase activity, acting on NAD(P)H IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
bicarbonate transport TAS
Traceable Author Statement
more info
 
oxidation-reduction process IDA
Inferred from Direct Assay
more info
PubMed 
sterol biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
nucleus HDA PubMed 

General protein information

Preferred Names
NADH-cytochrome b5 reductase 2
Names
cytochrome b5 reductase b5R.2
NP_001289755.1
NP_001289756.1
NP_057313.2
XP_005253032.1
XP_006718314.1
XP_011518486.1
XP_011518487.1
XP_016873409.1
XP_016873410.1
XP_016873411.1
XP_024304348.1
XP_024304349.1
XP_024304350.1

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_001302826.2NP_001289755.1  NADH-cytochrome b5 reductase 2 isoform 1

    See identical proteins and their annotated locations for NP_001289755.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC104237, AK290102, BF061336, BM693762, DB460012
    Consensus CDS
    CCDS7780.1
    UniProtKB/Swiss-Prot
    Q6BCY4
    UniProtKB/TrEMBL
    A8K237
    Related
    ENSP00000437041.1, ENST00000533558.5
    Conserved Domains (1) summary
    cl26810
    Location:8276
    PLN02252; nitrate reductase [NADPH]
  2. NM_001302827.1NP_001289756.1  NADH-cytochrome b5 reductase 2 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in its 5' UTR and uses an alternate splice site in the 3' coding region, which results in a frameshift compared to variant 1. It encodes isoform 2, which has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC104237, BF061336, BG495762, BQ431043, HY211860
    Conserved Domains (1) summary
    cd06183
    Location:20188
    cyt_b5_reduct_like; Cytochrome b5 reductase catalyzes the reduction of 2 molecules of cytochrome b5 using NADH as an electron donor. Like ferredoxin reductases, these proteins have an N-terminal FAD binding subdomain and a C-terminal NADH binding subdomain, separated by a ...
  3. NM_016229.5NP_057313.2  NADH-cytochrome b5 reductase 2 isoform 1

    See identical proteins and their annotated locations for NP_057313.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein (isoform 1).
    Source sequence(s)
    AC104237, AY665398, CB149369
    Consensus CDS
    CCDS7780.1
    UniProtKB/Swiss-Prot
    Q6BCY4
    Related
    ENSP00000299498.6, ENST00000299498.11
    Conserved Domains (1) summary
    cl26810
    Location:8276
    PLN02252; nitrate reductase [NADPH]

RNA

  1. NR_126508.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate first exon and contains an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC104237, AK290102, BC001346, BF061336
    Related
    ENST00000524790.5

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    7665095..7678569 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017017922.1XP_016873411.1  NADH-cytochrome b5 reductase 2 isoform X6

    Conserved Domains (1) summary
    cd06183
    Location:20186
    cyt_b5_reduct_like; Cytochrome b5 reductase catalyzes the reduction of 2 molecules of cytochrome b5 using NADH as an electron donor. Like ferredoxin reductases, these proteins have an N-terminal FAD binding subdomain and a C-terminal NADH binding subdomain, separated by a ...
  2. XM_011520185.3XP_011518487.1  NADH-cytochrome b5 reductase 2 isoform X2

    Conserved Domains (1) summary
    cd06183
    Location:80278
    cyt_b5_reduct_like; Cytochrome b5 reductase catalyzes the reduction of 2 molecules of cytochrome b5 using NADH as an electron donor. Like ferredoxin reductases, these proteins have an N-terminal FAD binding subdomain and a C-terminal NADH binding subdomain, separated by a ...
  3. XM_017017921.1XP_016873410.1  NADH-cytochrome b5 reductase 2 isoform X5

    Conserved Domains (1) summary
    cd06183
    Location:80246
    cyt_b5_reduct_like; Cytochrome b5 reductase catalyzes the reduction of 2 molecules of cytochrome b5 using NADH as an electron donor. Like ferredoxin reductases, these proteins have an N-terminal FAD binding subdomain and a C-terminal NADH binding subdomain, separated by a ...
  4. XM_017017920.1XP_016873409.1  NADH-cytochrome b5 reductase 2 isoform X1

    Conserved Domains (2) summary
    cd06183
    Location:80336
    cyt_b5_reduct_like; Cytochrome b5 reductase catalyzes the reduction of 2 molecules of cytochrome b5 using NADH as an electron donor. Like ferredoxin reductases, these proteins have an N-terminal FAD binding subdomain and a C-terminal NADH binding subdomain, separated by a ...
    PTZ00319
    Location:65336
    PTZ00319; NADH-cytochrome B5 reductase; Provisional
  5. XM_011520184.2XP_011518486.1  NADH-cytochrome b5 reductase 2 isoform X1

    Conserved Domains (2) summary
    cd06183
    Location:80336
    cyt_b5_reduct_like; Cytochrome b5 reductase catalyzes the reduction of 2 molecules of cytochrome b5 using NADH as an electron donor. Like ferredoxin reductases, these proteins have an N-terminal FAD binding subdomain and a C-terminal NADH binding subdomain, separated by a ...
    PTZ00319
    Location:65336
    PTZ00319; NADH-cytochrome B5 reductase; Provisional
  6. XM_005252975.5XP_005253032.1  NADH-cytochrome b5 reductase 2 isoform X3

    See identical proteins and their annotated locations for XP_005253032.1

    UniProtKB/Swiss-Prot
    Q6BCY4
    Conserved Domains (1) summary
    cl26810
    Location:8276
    PLN02252; nitrate reductase [NADPH]
  7. XM_024448582.1XP_024304350.1  NADH-cytochrome b5 reductase 2 isoform X6

    Related
    ENSP00000434969.1, ENST00000531096.5
  8. XM_024448581.1XP_024304349.1  NADH-cytochrome b5 reductase 2 isoform X4

    Conserved Domains (1) summary
    cl26810
    Location:8217
    PLN02252; nitrate reductase [NADPH]
  9. XM_006718251.3XP_006718314.1  NADH-cytochrome b5 reductase 2 isoform X3

    See identical proteins and their annotated locations for XP_006718314.1

    UniProtKB/Swiss-Prot
    Q6BCY4
    Conserved Domains (1) summary
    cl26810
    Location:8276
    PLN02252; nitrate reductase [NADPH]
  10. XM_024448580.1XP_024304348.1  NADH-cytochrome b5 reductase 2 isoform X3

    Conserved Domains (1) summary
    cl26810
    Location:8276
    PLN02252; nitrate reductase [NADPH]

RNA

  1. XR_002957151.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001001336.1: Suppressed sequence

    Description
    NM_001001336.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
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