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

Gene ID: 79676, updated on 30-Mar-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, Apr 2022]
Expression
Ubiquitous expression in testis (RPKM 8.6), duodenum (RPKM 4.7) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
12q24.31
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (122974726..122980042)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (122971251..122976567)
105.20220307 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 ADP ribosylation factor 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
  • 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 (11) 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
  

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_2023_10

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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