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    OGFOD2 2-oxoglutarate and iron dependent oxygenase domain containing 2 [ Homo sapiens (human) ]

    Gene ID: 79676, updated on 2-Nov-2024

    Summary

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    Official Symbol
    OGFOD2provided by HGNC
    Official Full Name
    2-oxoglutarate and iron dependent oxygenase domain containing 2provided by HGNC
    Primary source
    HGNC:HGNC:25823
    See related
    Ensembl:ENSG00000111325 AllianceGenome:HGNC:25823
    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
    Summary
    Predicted to enable several functions, including L-ascorbic acid binding activity; dioxygenase activity; and iron ion binding activity. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 8.6), duodenum (RPKM 4.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See OGFOD2 in Genome Data Viewer
    Location:
    12q24.31
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (122974726..122980042)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (122971251..122976567)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (123459273..123464589)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903040 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7239 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5022 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5023 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:123329929-123330760 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:123338415-123338915 Neighboring gene Sharpr-MPRA regulatory region 11411 Neighboring gene uncharacterized LOC124903039 Neighboring gene huntingtin interacting protein 1 related Neighboring gene hESC enhancers GRCh37_chr12:123356243-123356750 and GRCh37_chr12:123356751-123357257 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:123357767-123358273 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7241 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:123361289-123361497 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7242 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7243 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:123372974-123373690 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:123375921-123376422 Neighboring gene VPS37B subunit of ESCRT-I Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:123376423-123376922 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7244 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5024 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr12:123394282-123394782 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr12:123394783-123395283 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:123407378-123407878 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:123407879-123408379 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:123414465-123414965 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:123424202-123425057 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:123429718-123430527 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:123431158-123431906 Neighboring gene ATP binding cassette subfamily B member 9 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:123449651-123450458 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:123450459-123451264 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7247 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7248 Neighboring gene H3K27ac hESC enhancers GRCh37_chr12:123464801-123465306 and GRCh37_chr12:123465307-123465812 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7249 Neighboring gene ARF like GTPase 6 interacting protein 4 Neighboring gene phosphatidylinositol transfer protein membrane associated 2 Neighboring gene microRNA 4304

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women. Ramsuran V, et al. Clin Infect Dis, 2011 May. PMID 21507922, Free PMC Article
    2. Genome-wide association analysis identifies 13 new risk loci for schizophrenia. Ripke S, et al. Nat Genet, 2013 Oct. PMID 23974872, Free PMC Article
    3. ΔNp63α Suppresses TGFB2 Expression and RHOA Activity to Drive Cell Proliferation in Squamous Cell Carcinomas. Abraham CG, et al. Cell Rep, 2018 Sep 18. PMID 30232004, Free PMC Article
    4. Biological insights from 108 schizophrenia-associated genetic loci. Schizophrenia Working Group of the Psychiatric Genomics Consortium. Nature, 2014 Jul 24. PMID 25056061, Free PMC Article
    5. DCAF8, a novel MuRF1 interaction partner, promotes muscle atrophy. Nowak M, et al. J Cell Sci, 2019 Sep 6. PMID 31391242

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog
    Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women.
    EBI GWAS Catalog
    Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ13491, FLJ37501, MGC120434, MGC120436, DKFZp686H15154

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables L-ascorbic acid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables dioxygenase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables iron ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    2-oxoglutarate and iron-dependent oxygenase domain-containing protein 2
    NP_001291762.1
    NP_001291763.1
    NP_001291764.1
    NP_001291765.1
    NP_001291766.1
    NP_001291767.1
    NP_078899.1

    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_001304833.2 → NP_001291762.1  2-oxoglutarate and iron-dependent oxygenase domain-containing protein 2 isoform 1

      See identical proteins and their annotated locations for NP_001291762.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC026362
      Consensus CDS
      CCDS76617.1
      UniProtKB/Swiss-Prot
      B3KT24, Q4KN13, Q6N023, Q6N063, Q9H8K6
      Related
      ENSP00000228922.7, ENST00000228922.12
      Conserved Domains (1) summary
      smart00702
      Location:146 → 308
      P4Hc; Prolyl 4-hydroxylase alpha subunit homologues

    2. NM_001304834.2 → NP_001291763.1  2-oxoglutarate and iron-dependent oxygenase domain-containing protein 2 isoform 3

      See identical proteins and their annotated locations for NP_001291763.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) represents use of an alternate promoter and therefore differs in the 5' UTR and 5' coding region, compared to variant 1. These differences cause translation initiation at a downstream start codon and result in an isoform (3) with a shorter N-terminus, compared to isoform 1. Variants 3, 4, 5, 6, and 7 all encode the same isoform (3).
      Source sequence(s)
      AC026362, AK094820, BC009181, BC098293
      Consensus CDS
      CCDS76618.1
      UniProtKB/TrEMBL
      B3KTF4
      Related
      ENSP00000442817.1, ENST00000538755.5
      Conserved Domains (1) summary
      smart00702
      Location:23 → 144
      P4Hc; Prolyl 4-hydroxylase alpha subunit homologues

    3. NM_001304835.2 → NP_001291764.1  2-oxoglutarate and iron-dependent oxygenase domain-containing protein 2 isoform 3

      See identical proteins and their annotated locations for NP_001291764.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) represents use of an alternate promoter and therefore differs in the 5' UTR and 5' coding region, compared to variant 1. These differences cause translation initiation at a downstream start codon and result in an isoform (3) with a shorter N-terminus, compared to isoform 1. Variants 3, 4, 5, 6, and 7 all encode the same isoform (3).
      Source sequence(s)
      AC026362, AK094820, BC009181, BC015605, DC404984
      Consensus CDS
      CCDS76618.1
      UniProtKB/TrEMBL
      B3KTF4
      Related
      ENSP00000444608.1, ENST00000538628.5
      Conserved Domains (1) summary
      smart00702
      Location:23 → 144
      P4Hc; Prolyl 4-hydroxylase alpha subunit homologues

    4. NM_001304836.2 → NP_001291765.1  2-oxoglutarate and iron-dependent oxygenase domain-containing protein 2 isoform 3

      See identical proteins and their annotated locations for NP_001291765.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) represents use of an alternate promoter and therefore differs in the 5' UTR and 5' coding region, compared to variant 1. These differences cause translation initiation at a downstream start codon and result in an isoform (3) with a shorter N-terminus, compared to isoform 1. Variants 3, 4, 5, 6, and 7 all encode the same isoform (3).
      Source sequence(s)
      AC026362, AK094820, BC009181, BC047676
      Consensus CDS
      CCDS76618.1
      UniProtKB/TrEMBL
      B3KTF4
      Related
      ENSP00000444436.1, ENST00000545612.5
      Conserved Domains (1) summary
      smart00702
      Location:23 → 144
      P4Hc; Prolyl 4-hydroxylase alpha subunit homologues

    5. NM_001304837.2 → NP_001291766.1  2-oxoglutarate and iron-dependent oxygenase domain-containing protein 2 isoform 3

      See identical proteins and their annotated locations for NP_001291766.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) represents use of an alternate promoter and therefore differs in the 5' UTR and 5' coding region, compared to variant 1. These differences cause translation initiation at a downstream start codon and result in an isoform (3) with a shorter N-terminus, compared to isoform 1. Variants 3, 4, 5, 6, and 7 all encode the same isoform (3).
      Source sequence(s)
      AC026362, AK094820, AK095481, BC009181, BC098293
      Consensus CDS
      CCDS76618.1
      UniProtKB/TrEMBL
      B3KTF4
      Related
      ENSP00000438327.1, ENST00000536150.5
      Conserved Domains (1) summary
      smart00702
      Location:23 → 144
      P4Hc; Prolyl 4-hydroxylase alpha subunit homologues

    6. NM_001304838.2 → NP_001291767.1  2-oxoglutarate and iron-dependent oxygenase domain-containing protein 2 isoform 3

      See identical proteins and their annotated locations for NP_001291767.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) represents use of an alternate promoter and therefore differs in the 5' UTR and 5' coding region, compared to variant 1. These differences cause translation initiation at a downstream start codon and result in an isoform (3) with a shorter N-terminus, compared to isoform 1. Variants 3, 4, 5, 6, and 7 all encode the same isoform (3).
      Source sequence(s)
      AC026362, AK094820, BC009181, BC105637
      Consensus CDS
      CCDS76618.1
      UniProtKB/TrEMBL
      B3KTF4
      Related
      ENSP00000394175.2, ENST00000454694.6
      Conserved Domains (1) summary
      smart00702
      Location:23 → 144
      P4Hc; Prolyl 4-hydroxylase alpha subunit homologues

    7. NM_024623.3 → NP_078899.1  2-oxoglutarate and iron-dependent oxygenase domain-containing protein 2 isoform 2

      See identical proteins and their annotated locations for NP_078899.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) represents use of an alternate promoter and therefore differs in the 5' UTR and 5' coding region, compared to variant 1. These differences cause translation initiation at a downstream start codon and result in an isoform (2) with a shorter, novel N-terminus, compared to isoform 1.
      Source sequence(s)
      AC026362, AK023553, AK094820, BC009181
      Consensus CDS
      CCDS41855.1
      UniProtKB/Swiss-Prot
      Q6N063
      Related
      ENSP00000380544.2, ENST00000397389.6
      Conserved Domains (1) summary
      smart00702
      Location:86 → 248
      P4Hc; Prolyl 4-hydroxylase alpha subunit homologues

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      122974726..122980042
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      122971251..122976567
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6N063.2 GenPept UniProtKB/Swiss-Prot:Q6N063

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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