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

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 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, Dec 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

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_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Submit: New GeneRIF Correction

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-AA022496 (e-PCR)
- UniSTS:63756

SHGC-149768 (e-PCR)
- UniSTS:177208

RH78153 (e-PCR)
- UniSTS:13239

SGC30324 (e-PCR)
- UniSTS:10952

NoName (e-PCR)
- UniSTS:487113

SHGC-146164 (e-PCR)
- UniSTS:175049

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

EC 1.14.11.-

NP_001291763.1

EC 1.14.11.-

NP_001291764.1

EC 1.14.11.-

NP_001291765.1

EC 1.14.11.-

NP_001291766.1

EC 1.14.11.-

NP_001291767.1

EC 1.14.11.-

NP_078899.1

EC 1.14.11.-

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)

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
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
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
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
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
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
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