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UGP2 UDP-glucose pyrophosphorylase 2 [ Homo sapiens (human) ]

Gene ID: 7360, updated on 4-Jan-2025

Summary

Official Symbol
UGP2provided by HGNC
Official Full Name
UDP-glucose pyrophosphorylase 2provided by HGNC
Primary source
HGNC:HGNC:12527
See related
Ensembl:ENSG00000169764 MIM:191760; AllianceGenome:HGNC:12527
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
UDPG; UGP1; DEE83; UDPGP; UGPP1; UGPP2; EIEE83; SVUGP2; UDPGP2; pHC379
Summary
The enzyme encoded by this gene is an important intermediary in mammalian carbohydrate interconversions. It transfers a glucose moiety from glucose-1-phosphate to MgUTP and forms UDP-glucose and MgPPi. In liver and muscle tissue, UDP-glucose is a direct precursor of glycogen; in lactating mammary gland it is converted to UDP-galactose which is then converted to lactose. The eukaryotic enzyme has no significant sequence similarity to the prokaryotic enzyme. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in liver (RPKM 142.1), fat (RPKM 136.8) and 25 other tissues See more
Orthologs
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Genomic context

See UGP2 in Genome Data Viewer
Location:
2p15
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (63840969..63891560)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (63848515..63899116)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (64068103..64118694)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene WD repeat containing planar cell polarity effector Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:63973523-63974174 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:63992494-63993309 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 66 Neighboring gene NANOG hESC enhancer GRCh37_chr2:64007601-64008102 Neighboring gene CS pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15878 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11543 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15879 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:64074440-64075220 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:64076781-64077560 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:64076001-64076780 Neighboring gene Sharpr-MPRA regulatory region 3928 Neighboring gene Sharpr-MPRA regulatory region 742 Neighboring gene VPS54 subunit of GARP complex Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15880 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11544 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11545 Neighboring gene uncharacterized LOC124907774 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11546 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:64297588-64298088 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:64303262-64303843 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:64303844-64304424

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Developmental and epileptic encephalopathy, 83
MedGen: C5231487 OMIM: 618744 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.
EBI GWAS Catalog

Pathways from PubChem

Interactions

General gene information

Gene Ontology Provided by GOA

Component Evidence Code Pubs
is_active_in cytoplasm  
located_in cytosol  
located_in extracellular exosome PubMed 
located_in nucleus PubMed 

General protein information

Preferred Names
UTP--glucose-1-phosphate uridylyltransferase
Names
UDP-glucose diphosphorylase
UDP-glucose pyrophosphorylase 1
UGPase 2
UTP--glucose-1-phosphate uridylyltransferase 2
UTP-glucose-1-phosphate uridyltransferase
Uridyl diphosphate glucose pyrophosphorylase-1
testis tissue sperm-binding protein Li 58p
uridyl diphosphate glucose pyrophosphorylase 2
NP_001001521.1
NP_001364453.1
NP_001364454.1
NP_001364455.1
NP_001364456.1
NP_001364457.1
NP_001364458.1
NP_006750.3
XP_024308888.1

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_001001521.2NP_001001521.1  UTP--glucose-1-phosphate uridylyltransferase isoform b

    See identical proteins and their annotated locations for NP_001001521.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding region compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a.
    Source sequence(s)
    AC092588, AC114748
    Consensus CDS
    CCDS42690.1
    UniProtKB/TrEMBL
    A0A140VKE1, B2RAN1
    Related
    ENSP00000377939.2, ENST00000394417.7
    Conserved Domains (1) summary
    pfam01704
    Location:44462
    UDPGP; UTP--glucose-1-phosphate uridylyltransferase
  2. NM_001377524.1NP_001364453.1  UTP--glucose-1-phosphate uridylyltransferase isoform b

    Status: REVIEWED

    Source sequence(s)
    AC092588, AC114748
    Consensus CDS
    CCDS42690.1
    UniProtKB/TrEMBL
    A0A140VKE1, B2RAN1
    Conserved Domains (1) summary
    pfam01704
    Location:44462
    UDPGP; UTP--glucose-1-phosphate uridylyltransferase
  3. NM_001377525.1NP_001364454.1  UTP--glucose-1-phosphate uridylyltransferase isoform b

    Status: REVIEWED

    Source sequence(s)
    AC092588, AC114748
    Consensus CDS
    CCDS42690.1
    UniProtKB/TrEMBL
    A0A140VKE1, B2RAN1
    Related
    ENSP00000420793.2, ENST00000467648.6
    Conserved Domains (1) summary
    pfam01704
    Location:44462
    UDPGP; UTP--glucose-1-phosphate uridylyltransferase
  4. NM_001377526.1NP_001364455.1  UTP--glucose-1-phosphate uridylyltransferase isoform c

    Status: REVIEWED

    Source sequence(s)
    AC092588, AC114748
    Conserved Domains (1) summary
    pfam01704
    Location:1353
    UDPGP; UTP--glucose-1-phosphate uridylyltransferase
  5. NM_001377527.1NP_001364456.1  UTP--glucose-1-phosphate uridylyltransferase isoform c

    Status: REVIEWED

    Source sequence(s)
    AC092588, AC114748
    Conserved Domains (1) summary
    pfam01704
    Location:1353
    UDPGP; UTP--glucose-1-phosphate uridylyltransferase
  6. NM_001377528.1NP_001364457.1  UTP--glucose-1-phosphate uridylyltransferase isoform c

    Status: REVIEWED

    Source sequence(s)
    AC092588, AC114748
    Conserved Domains (1) summary
    pfam01704
    Location:1353
    UDPGP; UTP--glucose-1-phosphate uridylyltransferase
  7. NM_001377529.1NP_001364458.1  UTP--glucose-1-phosphate uridylyltransferase isoform c

    Status: REVIEWED

    Source sequence(s)
    AC092588, AC114748
    Conserved Domains (1) summary
    pfam01704
    Location:1353
    UDPGP; UTP--glucose-1-phosphate uridylyltransferase
  8. NM_006759.4NP_006750.3  UTP--glucose-1-phosphate uridylyltransferase isoform a

    See identical proteins and their annotated locations for NP_006750.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    AC092588, AC114748
    Consensus CDS
    CCDS1875.1
    UniProtKB/Swiss-Prot
    Q07131, Q0P6K2, Q16851, Q86Y81, Q9BU15
    UniProtKB/TrEMBL
    B2RAN1
    Related
    ENSP00000338703.5, ENST00000337130.10
    Conserved Domains (1) summary
    pfam01704
    Location:55473
    UDPGP; UTP--glucose-1-phosphate uridylyltransferase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    63840969..63891560
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024453120.2XP_024308888.1  UTP--glucose-1-phosphate uridylyltransferase isoform X1

    UniProtKB/TrEMBL
    A0A140VKE1, B2RAN1
    Related
    ENSP00000411803.2, ENST00000445915.6
    Conserved Domains (1) summary
    pfam01704
    Location:44462
    UDPGP; UTP--glucose-1-phosphate uridylyltransferase

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    63848515..63899116
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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