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GNPDA2 glucosamine-6-phosphate deaminase 2 [ Homo sapiens (human) ]

Gene ID: 132789, updated on 8-Dec-2018

Summary

Official Symbol
GNPDA2provided by HGNC
Official Full Name
glucosamine-6-phosphate deaminase 2provided by HGNC
Primary source
HGNC:HGNC:21526
See related
Ensembl:ENSG00000163281 MIM:613222
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
GNP2; SB52
Summary
The protein encoded by this gene is an allosteric enzyme that catalyzes the reversible reaction converting D-glucosamine-6-phosphate into D-fructose-6-phosphate and ammonium. Variations of this gene have been reported to be associated with influencing body mass index and susceptibility to obesity. A pseudogene of this gene is located on chromosome 9. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012]
Expression
Ubiquitous expression in ovary (RPKM 8.8), thyroid (RPKM 8.8) and 25 other tissues See more
Orthologs

Genomic context

See GNPDA2 in Genome Data Viewer
Location:
4p12
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 4 NC_000004.12 (44701795..44726634, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (44694190..44728651, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene Yip1 domain family member 7 Neighboring gene GUF1 homolog, GTPase Neighboring gene uncharacterized LOC105374439 Neighboring gene uncharacterized LOC112268465 Neighboring gene uncharacterized LOC105374440

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
A meta-analysis identifies new loci associated with body mass index in individuals of African ancestry.
NHGRI GWA Catalog
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.
NHGRI GWA Catalog
Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course.
NHGRI GWA Catalog
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
NHGRI GWA Catalog
Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index.
NHGRI GWA Catalog
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
NHGRI GWA Catalog
Six new loci associated with body mass index highlight a neuronal influence on body weight regulation.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
glucosamine-6-phosphate deaminase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glucosamine-6-phosphate deaminase activity TAS
Traceable Author Statement
more info
 
identical protein binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
N-acetylglucosamine catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
N-acetylneuraminate catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
UDP-N-acetylglucosamine biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
carbohydrate metabolic process IEA
Inferred from Electronic Annotation
more info
 
glucosamine catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glucosamine catabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
nucleus HDA PubMed 

General protein information

Preferred Names
glucosamine-6-phosphate isomerase 2
Names
glcN6P deaminase 2
glucosamine-6-phosphate isomerase SB52
NP_001257809.1
NP_001257810.1
NP_612208.1

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_001270880.1NP_001257809.1  glucosamine-6-phosphate isomerase 2 isoform 2

    See identical proteins and their annotated locations for NP_001257809.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the coding region compared to variant 1. It encodes isoform 2 which is shorter than isoform 1.
    Source sequence(s)
    AF247786, AY173948, BP274548, BQ021991
    Consensus CDS
    CCDS59473.1
    UniProtKB/Swiss-Prot
    Q8TDQ7
    Related
    ENSP00000425868.1, ENST00000507917.5
    Conserved Domains (1) summary
    cl00339
    Location:1219
    SugarP_isomerase; SugarP_isomerase: Sugar Phosphate Isomerase family; includes type A ribose 5-phosphate isomerase (RPI_A), glucosamine-6-phosphate (GlcN6P) deaminase, and 6-phosphogluconolactonase (6PGL). RPI catalyzes the reversible conversion of ribose-5-phosphate to ...
  2. NM_001270881.1NP_001257810.1  glucosamine-6-phosphate isomerase 2 isoform 3

    See identical proteins and their annotated locations for NP_001257810.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate exon in the 5' UTR and uses a downstream start codon compared to variant 1. It encodes isoform 3 which has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AF247786, AK296051, BP274548, BQ021991
    Consensus CDS
    CCDS59472.1
    UniProtKB/Swiss-Prot
    Q8TDQ7
    Related
    ENSP00000427423.1, ENST00000507534.5
    Conserved Domains (1) summary
    cl00339
    Location:1183
    SugarP_isomerase; SugarP_isomerase: Sugar Phosphate Isomerase family; includes type A ribose 5-phosphate isomerase (RPI_A), glucosamine-6-phosphate (GlcN6P) deaminase, and 6-phosphogluconolactonase (6PGL). RPI catalyzes the reversible conversion of ribose-5-phosphate to ...
  3. NM_138335.2NP_612208.1  glucosamine-6-phosphate isomerase 2 isoform 1

    See identical proteins and their annotated locations for NP_612208.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AF247786, BP274548, BQ021991
    Consensus CDS
    CCDS3469.1
    UniProtKB/Swiss-Prot
    Q8TDQ7
    UniProtKB/TrEMBL
    A0A024R9X5
    Related
    ENSP00000295448.3, ENST00000295448.7
    Conserved Domains (1) summary
    cl00339
    Location:1253
    SugarP_isomerase; SugarP_isomerase: Sugar Phosphate Isomerase family; includes type A ribose 5-phosphate isomerase (RPI_A), glucosamine-6-phosphate (GlcN6P) deaminase, and 6-phosphogluconolactonase (6PGL). RPI catalyzes the reversible conversion of ribose-5-phosphate to ...

RNA

  1. NR_073094.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks the first coding (AUG) exon and uses 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, as used in variant 3, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AF247786, BP274548, BQ021991, HY180477
  2. NR_073095.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks three alternate in-frame exons in the 5' UTR compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region found in variant 1.
    Source sequence(s)
    AF247786, BP274548, BQ021991, HY163015

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.p12 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p12 Primary Assembly

    Range
    44701795..44726634 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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