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    POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) [ Homo sapiens (human) ]

    Gene ID: 84892, updated on 9-Dec-2024

    Summary

    Official Symbol
    POMGNT2provided by HGNC
    Official Full Name
    protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)provided by HGNC
    Primary source
    HGNC:HGNC:25902
    See related
    Ensembl:ENSG00000144647 MIM:614828; AllianceGenome:HGNC:25902
    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
    Also known as
    AGO61; GTDC2; MDDGA8; MDDGC8; C3orf39
    Summary
    This gene encodes a protein with glycosyltransferase activity although its function is not currently known. [provided by RefSeq, Sep 2012]
    Expression
    Ubiquitous expression in endometrium (RPKM 11.1), brain (RPKM 9.1) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See POMGNT2 in Genome Data Viewer
    Location:
    3p22.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (43079234..43106079, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (43094564..43121424, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (43120726..43147571, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene KRBOX1 antisense RNA 1 Neighboring gene KRAB box domain containing 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:43025326-43025826 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:43025827-43026327 Neighboring gene golgi associated kinase 1A Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:43104067-43104586 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:43121119-43121620 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:43121621-43122120 Neighboring gene uncharacterized LOC107986079 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:43138968-43139468 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:43139469-43139969 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14253 Neighboring gene uncharacterized LOC105377051 Neighboring gene Sharpr-MPRA regulatory regions 3209 and 6245 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19751 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19752 Neighboring gene uncharacterized LOC105377052

    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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ14566

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in neuron migration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein O-linked glycosylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein O-linked glycosylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein O-linked glycosylation TAS
    Traceable Author Statement
    more info
     
    involved_in protein O-linked mannosylation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein O-linked mannosylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2
    Names
    glycosyltransferase-like domain containing 2
    glycosyltransferase-like domain-containing protein 2
    protein O-mannose beta-1,4-N-acetylglucosaminyltransferase 2
    NP_116195.2
    XP_005265572.1
    XP_011532465.1
    XP_016862842.1
    XP_054204124.1
    XP_054204125.1
    XP_054204126.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_032930.1 RefSeqGene

      Range
      5005..31850
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_706

    mRNA and Protein(s)

    1. NM_032806.6NP_116195.2  protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2

      See identical proteins and their annotated locations for NP_116195.2

      Status: VALIDATED

      Source sequence(s)
      AC092042, BC060861
      Consensus CDS
      CCDS2709.1
      UniProtKB/Swiss-Prot
      B3KWC3, Q8NAT1, Q96SY3
      Related
      ENSP00000344125.2, ENST00000344697.3
      Conserved Domains (2) summary
      cd00063
      Location:493580
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam04577
      Location:264395
      DUF563; Protein of unknown function (DUF563)

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      43079234..43106079 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011534163.3XP_011532465.1  protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2 isoform X1

      See identical proteins and their annotated locations for XP_011532465.1

      UniProtKB/Swiss-Prot
      B3KWC3, Q8NAT1, Q96SY3
      Related
      ENSP00000509610.1, ENST00000687440.1
      Conserved Domains (2) summary
      cd00063
      Location:493580
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam04577
      Location:264395
      DUF563; Protein of unknown function (DUF563)
    2. XM_005265515.4XP_005265572.1  protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2 isoform X1

      See identical proteins and their annotated locations for XP_005265572.1

      UniProtKB/Swiss-Prot
      B3KWC3, Q8NAT1, Q96SY3
      Related
      ENSP00000408992.1, ENST00000441964.1
      Conserved Domains (2) summary
      cd00063
      Location:493580
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam04577
      Location:264395
      DUF563; Protein of unknown function (DUF563)
    3. XM_017007353.2XP_016862842.1  protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2 isoform X1

      UniProtKB/Swiss-Prot
      B3KWC3, Q8NAT1, Q96SY3
      Related
      ENSP00000509123.1, ENST00000686643.1
      Conserved Domains (2) summary
      cd00063
      Location:493580
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam04577
      Location:264395
      DUF563; Protein of unknown function (DUF563)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      43094564..43121424 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054348150.1XP_054204125.1  protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2 isoform X1

      UniProtKB/Swiss-Prot
      B3KWC3, Q8NAT1, Q96SY3
    2. XM_054348149.1XP_054204124.1  protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2 isoform X1

      UniProtKB/Swiss-Prot
      B3KWC3, Q8NAT1, Q96SY3
    3. XM_054348151.1XP_054204126.1  protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2 isoform X1

      UniProtKB/Swiss-Prot
      B3KWC3, Q8NAT1, Q96SY3