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

Gene ID: 79676, updated on 21-Dec-2019

Summary

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
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
Expression
Ubiquitous expression in testis (RPKM 8.6), duodenum (RPKM 4.7) and 25 other tissues See more
Orthologs

Genomic context

See OGFOD2 in Genome Data Viewer
Location:
12q24.31
Exon count:
10
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (122974726..122980042)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (123459354..123464588)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene huntingtin interacting protein 1 related Neighboring gene VPS37B subunit of ESCRT-I Neighboring gene ATP binding cassette subfamily B member 9 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

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

Phenotypes

NHGRI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ13491, FLJ37501, MGC120434, MGC120436, DKFZp686H15154

Gene Ontology Provided by GOA

Function Evidence Code Pubs
L-ascorbic acid binding IEA
Inferred from Electronic Annotation
more info
 
dioxygenase activity IEA
Inferred from Electronic Annotation
more info
 
iron ion binding IEA
Inferred from Electronic Annotation
more info
 
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 

General protein information

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)

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_001304833.1NP_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)
    AK094820, BC009181, DB009535
    Consensus CDS
    CCDS76617.1
    UniProtKB/Swiss-Prot
    Q6N063
    Related
    ENSP00000228922.7, ENST00000228922.11
    Conserved Domains (1) summary
    smart00702
    Location:146308
    P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
  2. NM_001304834.2NP_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/Swiss-Prot
    Q6N063
    UniProtKB/TrEMBL
    A0A024RBQ7
    Related
    ENSP00000442817.1, ENST00000538755.5
    Conserved Domains (1) summary
    smart00702
    Location:23144
    P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
  3. NM_001304835.2NP_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/Swiss-Prot
    Q6N063
    UniProtKB/TrEMBL
    A0A024RBQ7
    Related
    ENSP00000444608.1, ENST00000538628.5
    Conserved Domains (1) summary
    smart00702
    Location:23144
    P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
  4. NM_001304836.2NP_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/Swiss-Prot
    Q6N063
    UniProtKB/TrEMBL
    A0A024RBQ7
    Related
    ENSP00000444436.1, ENST00000545612.5
    Conserved Domains (1) summary
    smart00702
    Location:23144
    P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
  5. NM_001304837.2NP_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/Swiss-Prot
    Q6N063
    UniProtKB/TrEMBL
    A0A024RBQ7, B3KTF4
    Related
    ENSP00000438327.1, ENST00000536150.5
    Conserved Domains (1) summary
    smart00702
    Location:23144
    P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
  6. NM_001304838.2NP_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/Swiss-Prot
    Q6N063
    UniProtKB/TrEMBL
    A0A024RBQ7
    Related
    ENSP00000394175.2, ENST00000454694.6
    Conserved Domains (1) summary
    smart00702
    Location:23144
    P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
  7. NM_024623.3NP_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:86248
    P4Hc; Prolyl 4-hydroxylase alpha subunit homologues

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

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