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Entry version 168 (25 May 2022)
Sequence version 3 (04 Apr 2006)
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Protein

D-2-hydroxyglutarate dehydrogenase, mitochondrial

Gene

D2HGDH

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Catalyzes the oxidation of D-2-hydroxyglutarate (D-2-HG) to alpha-ketoglutarate (PubMed:15070399, PubMed:15609246, PubMed:16037974, PubMed:20020533, PubMed:33431826).

Also catalyzes the oxidation of other D-2-hydroxyacids, such as D-malate (D-MAL) and D-lactate (D-LAC) (PubMed:33431826).

Exhibits high activities towards D-2-HG and D-MAL but a very weak activity towards D-LAC (PubMed:33431826).

5 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the 'Function' section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

FADCurated

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Activated by zinc and cobalt ions.1 Publication

<p>This subsection of the 'Function' section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

  1. KM=0.12 mM for D-2-hydroxyglutarate1 Publication
  2. KM=0.17 mM for D-malate1 Publication
  3. KM=0.15 mM for D-lactate1 Publication
  1. Vmax=2.29 µmol/min/mg enzyme towards D-2-hydroxyglutarate1 Publication
  2. Vmax=2.96 µmol/min/mg enzyme towards D-malate1 Publication
  3. Vmax=0.17 µmol/min/mg enzyme towards D-lactate1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei386D-2-hydroxyglutarateCombined sources1 Publication1
Binding sitei386D-lactateCombined sources1 Publication1
Binding sitei386D-malateCombined sources1 Publication1
Binding sitei390D-2-hydroxyglutarateCombined sources1 Publication1
Binding sitei390D-malateCombined sources1 Publication1
Binding sitei401D-2-hydroxyglutarateCombined sources1 Publication1
Binding sitei401D-malateCombined sources1 Publication1
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the 'Description' field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi434Zinc1 Publication1
Metal bindingi441Zinc1 Publication1
Binding sitei443D-2-hydroxyglutarateCombined sources1 Publication1
Metal bindingi475Zinc1 Publication1
Binding sitei476D-2-hydroxyglutarateCombined sources1 Publication1
Binding sitei476D-lactateCombined sources1 Publication1
Binding sitei476D-malateCombined sources1 Publication1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • (R)-2-hydroxyglutarate dehydrogenase activity Source: UniProtKB
  • FAD binding Source: InterPro
  • zinc ion binding Source: UniProtKB

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionOxidoreductase
LigandFAD, Flavoprotein, Metal-binding, Zinc

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
1.1.99.39, 2681

Pathway Commons web resource for biological pathway data

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PathwayCommonsi
Q8N465

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-880009, Interconversion of 2-oxoglutarate and 2-hydroxyglutarate

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...
SignaLinki
Q8N465

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q8N465

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
D-2-hydroxyglutarate dehydrogenase, mitochondrial (EC:1.1.99.391 Publication5 Publications)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:D2HGDH
Synonyms:D2HGD
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 2

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:28358, D2HGDH

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
609186, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8N465

Eukaryotic Pathogen, Vector and Host Database Resources

More...
VEuPathDBi
HostDB:ENSG00000180902

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Keywords - Cellular componenti

Mitochondrion

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

D-2-hydroxyglutaric aciduria 1 (D2HGA1)6 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA rare recessive neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features. Both a mild and a severe phenotype exist. The severe phenotype is homogeneous and is characterized by early infantile-onset epileptic encephalopathy and cardiomyopathy. The mild phenotype has a more variable clinical presentation. Diagnosis is based on the presence of an excess of D-2-hydroxyglutaric acid in the urine.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_084974109S → W in D2HGA1; unknown pathological significance; significant loss of catalytic activity. 2 PublicationsCorresponds to variant dbSNP:rs142050154Ensembl.1
Natural variantiVAR_084975127N → K in D2HGA1; unknown pathological significance; complete loss of catalytic activity. 2 PublicationsCorresponds to variant dbSNP:rs762857195Ensembl.1
Natural variantiVAR_084976131G → V in D2HGA1; unknown pathological significance; complete loss of catalytic activity. 2 Publications1
Natural variantiVAR_025890147I → S in D2HGA1; severe phenotype; unknown pathological significance; almost complete loss of catalytic activity. 3 PublicationsCorresponds to variant dbSNP:rs121434361EnsemblClinVar.1
Natural variantiVAR_084977153M → T in D2HGA1; unknown pathological significance; significant loss of catalytic activity. 3 Publications1
Natural variantiVAR_084978153M → V in D2HGA1; unknown pathological significance; significant loss of catalytic activity. 2 PublicationsCorresponds to variant dbSNP:rs1432270139Ensembl.1
Natural variantiVAR_084979169 – 521Missing in D2HGA1; unknown pathological significance. 1 PublicationAdd BLAST353
Natural variantiVAR_084980172C → Y in D2HGA1; unknown pathological significance; moderate reduction in catalytic activity. 2 PublicationsCorresponds to variant dbSNP:rs773735172EnsemblClinVar.1
Natural variantiVAR_084981189P → L in D2HGA1; unknown pathological significance; almost complete loss of catalytic activity. 2 PublicationsCorresponds to variant dbSNP:rs587783517EnsemblClinVar.1
Natural variantiVAR_084982205A → V in D2HGA1; unknown pathological significance; almost complete loss of catalytic activity. 2 PublicationsCorresponds to variant dbSNP:rs750889931Ensembl.1
Natural variantiVAR_084983231A → V in D2HGA1; unknown pathological significance; significant loss of catalytic activity. 2 Publications1
Natural variantiVAR_084984233G → S in D2HGA1; unknown pathological significance; no effect on catalytic activity. 2 PublicationsCorresponds to variant dbSNP:rs374535734EnsemblClinVar.1
Natural variantiVAR_025891375D → Y in D2HGA1; unknown pathological significance; moderate reduction in catalytic activity. 3 PublicationsCorresponds to variant dbSNP:rs267606759EnsemblClinVar.1
Natural variantiVAR_084985399V → M in D2HGA1; unknown pathological significance; moderate reduction in catalytic activity. 2 PublicationsCorresponds to variant dbSNP:rs746519212Ensembl.1
Natural variantiVAR_084986400 – 521Missing in D2HGA1; unknown pathological significance; complete loss of catalytic activity. 1 PublicationAdd BLAST122
Natural variantiVAR_084987419R → H in D2HGA1; unknown pathological significance; moderate reduction in catalytic activity. 2 PublicationsCorresponds to variant dbSNP:rs199908032EnsemblClinVar.1
Natural variantiVAR_084988426A → T in D2HGA1; unknown pathological significance; no effect on catalytic activity. 2 PublicationsCorresponds to variant dbSNP:rs146578303EnsemblClinVar.1
Natural variantiVAR_025893439N → D in D2HGA1; mild phenotype; unknown pathological significance; moderate reduction in catalytic activity. 3 PublicationsCorresponds to variant dbSNP:rs121434362EnsemblClinVar.1
Natural variantiVAR_025894444V → A in D2HGA1; severe phenotype; unknown pathological significance; significant reduction in catalytic activity. 3 PublicationsCorresponds to variant dbSNP:rs121434360EnsemblClinVar.1
Natural variantiVAR_084989446A → V in D2HGA1; unknown pathological significance; moderate reduction in catalytic activity. 2 PublicationsCorresponds to variant dbSNP:rs746956176Ensembl.1
Natural variantiVAR_084990477G → R in D2HGA1; unknown pathological significance; almost complete loss of catalytic activity. 2 Publications1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi386R → A: Loss of catalytic activity. 1 Publication1
Mutagenesisi390T → A: Significantly reduced catalytic activity. 1 Publication1
Mutagenesisi401K → A: Loss of catalytic activity. 1 Publication1
Mutagenesisi434H → A: Loss of catalytic activity. 1 Publication1
Mutagenesisi441H → A: Loss of catalytic activity. 1 Publication1
Mutagenesisi443N → A: Significantly reduced catalytic activity. 1 Publication1
Mutagenesisi475E → A: Loss of catalytic activity. 1 Publication1
Mutagenesisi476H → A: Loss of catalytic activity. 1 Publication1

Keywords - Diseasei

Disease variant

Organism-specific databases

DisGeNET

More...
DisGeNETi
728294

MalaCards human disease database

More...
MalaCardsi
D2HGDH
MIMi600721, phenotype

Open Targets

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OpenTargetsi
ENSG00000180902

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
79315, D-2-hydroxyglutaric aciduria

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA143485446

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q8N465, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
D2HGDH

Domain mapping of disease mutations (DMDM)

More...
DMDMi
91208273

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a transit peptide.<p><a href='/help/transit' target='_top'>More...</a></p>Transit peptidei1 – 13MitochondrionSequence analysisAdd BLAST13
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000023167414 – 521D-2-hydroxyglutarate dehydrogenase, mitochondrialAdd BLAST508

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei101N6-succinyllysineBy similarity1

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q8N465

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q8N465

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q8N465

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q8N465

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q8N465

PeptideAtlas

More...
PeptideAtlasi
Q8N465

PRoteomics IDEntifications database

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PRIDEi
Q8N465

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
5910
71889 [Q8N465-1]
71890 [Q8N465-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8N465

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q8N465

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000180902, Expressed in right uterine tube and 194 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q8N465, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q8N465, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000180902, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
608722, 176 interactors

Protein interaction database and analysis system

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IntActi
Q8N465, 11 interactors

Molecular INTeraction database

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MINTi
Q8N465

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000315351

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

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RNActi
Q8N465, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1521
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

AlphaFold Protein Structure Database

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AlphaFoldDBi
Q8N465

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q8N465

Database of comparative protein structure models

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ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini96 – 275FAD-binding PCMH-typePROSITE-ProRule annotationAdd BLAST180

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG1232, Eukaryota

Ensembl GeneTree

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GeneTreei
ENSGT00550000075086

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q8N465

Identification of Orthologs from Complete Genome Data

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OMAi
CNDNMLA

Database of Orthologous Groups

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OrthoDBi
515900at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q8N465

TreeFam database of animal gene trees

More...
TreeFami
TF323342

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.10.45.10, 1 hit
3.30.43.10, 1 hit
3.30.465.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR016166, FAD-bd_PCMH
IPR036318, FAD-bd_PCMH-like_sf
IPR016167, FAD-bd_PCMH_sub1
IPR016169, FAD-bd_PCMH_sub2
IPR016164, FAD-linked_Oxase-like_C
IPR004113, FAD-linked_oxidase_C
IPR006094, Oxid_FAD_bind_N
IPR016171, Vanillyl_alc_oxidase_C-sub2

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF02913, FAD-oxidase_C, 1 hit
PF01565, FAD_binding_4, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF55103, SSF55103, 1 hit
SSF56176, SSF56176, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51387, FAD_PCMH, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8N465-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <p><strong>What is the canonical sequence?</strong><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MLPRRPLAWP AWLLRGAPGA AGSWGRPVGP LARRGCCSAP GTPEVPLTRE
60 70 80 90 100
RYPVRRLPFS TVSKQDLAAF ERIVPGGVVT DPEALQAPNV DWLRTLRGCS
110 120 130 140 150
KVLLRPRTSE EVSHILRHCH ERNLAVNPQG GNTGMVGGSV PVFDEIILST
160 170 180 190 200
ARMNRVLSFH SVSGILVCQA GCVLEELSRY VEERDFIMPL DLGAKGSCHI
210 220 230 240 250
GGNVATNAGG LRFLRYGSLH GTVLGLEVVL ADGTVLDCLT SLRKDNTGYD
260 270 280 290 300
LKQLFIGSEG TLGIITTVSI LCPPKPRAVN VAFLGCPGFA EVLQTFSTCK
310 320 330 340 350
GMLGEILSAF EFMDAVCMQL VGRHLHLASP VQESPFYVLI ETSGSNAGHD
360 370 380 390 400
AEKLGHFLEH ALGSGLVTDG TMATDQRKVK MLWALRERIT EALSRDGYVY
410 420 430 440 450
KYDLSLPVER LYDIVTDLRA RLGPHAKHVV GYGHLGDGNL HLNVTAEAFS
460 470 480 490 500
PSLLAALEPH VYEWTAGQQG SVSAEHGVGF RKRDVLGYSK PPGALQLMQQ
510 520
LKALLDPKGI LNPYKTLPSQ A
Length:521
Mass (Da):56,416
Last modified:April 4, 2006 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i65D88C4315FA45CE
GO
Isoform 2 (identifier: Q8N465-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     165-172: ILVCQAGC → GL
     285-313: GCPGFAEVLQTFSTCKGMLGEILSAFEFM → VTCVLPACGPGSPRPARLPHPALRTPGLR
     314-521: Missing.

Show »
Length:307
Mass (Da):32,933
Checksum:i2EA2EA997C5E4968
GO
Isoform 3 (identifier: Q8N465-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     285-319: GCPGFAEVLQTFSTCKGMLGEILSAFEFMDAVCMQ → VTCVPPACGPGSPRPARLPHPALRTPGVCPQPLRL
     320-521: Missing.

Show »
Length:319
Mass (Da):34,173
Checksum:i6C7BDA672635D743
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8WCF9F8WCF9_HUMAN
D-2-hydroxyglutarate dehydrogenase,...
D2HGDH
243Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
B5MCV2B5MCV2_HUMAN
D-2-hydroxyglutarate dehydrogenase,...
D2HGDH
387Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
G5E9E8G5E9E8_HUMAN
D-2-hydroxyglutarate dehydrogenase,...
D2HGDH hCG_31745
320Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C021H7C021_HUMAN
D-2-hydroxyglutarate dehydrogenase,...
D2HGDH
152Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C3L2H7C3L2_HUMAN
D-2-hydroxyglutarate dehydrogenase,...
D2HGDH
89Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C0N1H7C0N1_HUMAN
D-2-hydroxyglutarate dehydrogenase,...
D2HGDH
189Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C290H7C290_HUMAN
D-2-hydroxyglutarate dehydrogenase,...
D2HGDH
78Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAX82020 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti55R → Q in AAH36604 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02588915R → G1 PublicationCorresponds to variant dbSNP:rs4675887EnsemblClinVar.1
Natural variantiVAR_084974109S → W in D2HGA1; unknown pathological significance; significant loss of catalytic activity. 2 PublicationsCorresponds to variant dbSNP:rs142050154Ensembl.1
Natural variantiVAR_084975127N → K in D2HGA1; unknown pathological significance; complete loss of catalytic activity. 2 PublicationsCorresponds to variant dbSNP:rs762857195Ensembl.1
Natural variantiVAR_084976131G → V in D2HGA1; unknown pathological significance; complete loss of catalytic activity. 2 Publications1
Natural variantiVAR_025890147I → S in D2HGA1; severe phenotype; unknown pathological significance; almost complete loss of catalytic activity. 3 PublicationsCorresponds to variant dbSNP:rs121434361EnsemblClinVar.1
Natural variantiVAR_084977153M → T in D2HGA1; unknown pathological significance; significant loss of catalytic activity. 3 Publications1
Natural variantiVAR_084978153M → V in D2HGA1; unknown pathological significance; significant loss of catalytic activity. 2 PublicationsCorresponds to variant dbSNP:rs1432270139Ensembl.1
Natural variantiVAR_084979169 – 521Missing in D2HGA1; unknown pathological significance. 1 PublicationAdd BLAST353
Natural variantiVAR_084980172C → Y in D2HGA1; unknown pathological significance; moderate reduction in catalytic activity. 2 PublicationsCorresponds to variant dbSNP:rs773735172EnsemblClinVar.1
Natural variantiVAR_084981189P → L in D2HGA1; unknown pathological significance; almost complete loss of catalytic activity. 2 PublicationsCorresponds to variant dbSNP:rs587783517EnsemblClinVar.1
Natural variantiVAR_084982205A → V in D2HGA1; unknown pathological significance; almost complete loss of catalytic activity. 2 PublicationsCorresponds to variant dbSNP:rs750889931Ensembl.1
Natural variantiVAR_084983231A → V in D2HGA1; unknown pathological significance; significant loss of catalytic activity. 2 Publications1
Natural variantiVAR_084984233G → S in D2HGA1; unknown pathological significance; no effect on catalytic activity. 2 PublicationsCorresponds to variant dbSNP:rs374535734EnsemblClinVar.1
Natural variantiVAR_050433338V → I. Corresponds to variant dbSNP:rs1106639EnsemblClinVar.1
Natural variantiVAR_050434361A → V. Corresponds to variant dbSNP:rs1105273EnsemblClinVar.1
Natural variantiVAR_025891375D → Y in D2HGA1; unknown pathological significance; moderate reduction in catalytic activity. 3 PublicationsCorresponds to variant dbSNP:rs267606759EnsemblClinVar.1
Natural variantiVAR_084985399V → M in D2HGA1; unknown pathological significance; moderate reduction in catalytic activity. 2 PublicationsCorresponds to variant dbSNP:rs746519212Ensembl.1
Natural variantiVAR_084986400 – 521Missing in D2HGA1; unknown pathological significance; complete loss of catalytic activity. 1 PublicationAdd BLAST122
Natural variantiVAR_084987419R → H in D2HGA1; unknown pathological significance; moderate reduction in catalytic activity. 2 PublicationsCorresponds to variant dbSNP:rs199908032EnsemblClinVar.1
Natural variantiVAR_084988426A → T in D2HGA1; unknown pathological significance; no effect on catalytic activity. 2 PublicationsCorresponds to variant dbSNP:rs146578303EnsemblClinVar.1
Natural variantiVAR_025892436G → V Slight reduction in catalytic activity. 2 Publications1
Natural variantiVAR_025893439N → D in D2HGA1; mild phenotype; unknown pathological significance; moderate reduction in catalytic activity. 3 PublicationsCorresponds to variant dbSNP:rs121434362EnsemblClinVar.1
Natural variantiVAR_025894444V → A in D2HGA1; severe phenotype; unknown pathological significance; significant reduction in catalytic activity. 3 PublicationsCorresponds to variant dbSNP:rs121434360EnsemblClinVar.1
Natural variantiVAR_084989446A → V in D2HGA1; unknown pathological significance; moderate reduction in catalytic activity. 2 PublicationsCorresponds to variant dbSNP:rs746956176Ensembl.1
Natural variantiVAR_084990477G → R in D2HGA1; unknown pathological significance; almost complete loss of catalytic activity. 2 Publications1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_017876165 – 172ILVCQAGC → GL in isoform 2. 1 Publication8
Alternative sequenceiVSP_054389285 – 319GCPGF…AVCMQ → VTCVPPACGPGSPRPARLPH PALRTPGVCPQPLRL in isoform 3. 1 PublicationAdd BLAST35
Alternative sequenceiVSP_017877285 – 313GCPGF…AFEFM → VTCVLPACGPGSPRPARLPH PALRTPGLR in isoform 2. 1 PublicationAdd BLAST29
Alternative sequenceiVSP_017878314 – 521Missing in isoform 2. 1 PublicationAdd BLAST208
Alternative sequenceiVSP_054390320 – 521Missing in isoform 3. 1 PublicationAdd BLAST202

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AK304773 mRNA Translation: BAG65528.1
AC114730 Genomic DNA Translation: AAX82020.1 Sequence problems.
BC036604 mRNA Translation: AAH36604.2
BC071598 mRNA Translation: AAH71598.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS33426.1 [Q8N465-1]

NCBI Reference Sequences

More...
RefSeqi
NP_001274178.1, NM_001287249.1
NP_689996.4, NM_152783.4 [Q8N465-1]
XP_011510062.1, XM_011511760.2 [Q8N465-3]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000321264.9; ENSP00000315351.4; ENSG00000180902.18

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
728294

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:728294

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...
MANE-Selecti
ENST00000321264.9; ENSP00000315351.4; NM_152783.5; NP_689996.4

UCSC genome browser

More...
UCSCi
uc002wce.3, human [Q8N465-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK304773 mRNA Translation: BAG65528.1
AC114730 Genomic DNA Translation: AAX82020.1 Sequence problems.
BC036604 mRNA Translation: AAH36604.2
BC071598 mRNA Translation: AAH71598.1
CCDSiCCDS33426.1 [Q8N465-1]
RefSeqiNP_001274178.1, NM_001287249.1
NP_689996.4, NM_152783.4 [Q8N465-1]
XP_011510062.1, XM_011511760.2 [Q8N465-3]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
6LPNX-ray2.21A/B51-521[»]
6LPPX-ray2.65A/B51-521[»]
6LPQX-ray2.80A/B51-521[»]
6LPTX-ray2.62A/B51-521[»]
6LPUX-ray2.92A/B51-521[»]
6LPXX-ray2.80A/B51-521[»]
AlphaFoldDBiQ8N465
SMRiQ8N465
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi608722, 176 interactors
IntActiQ8N465, 11 interactors
MINTiQ8N465
STRINGi9606.ENSP00000315351

PTM databases

iPTMnetiQ8N465
PhosphoSitePlusiQ8N465

Genetic variation databases

BioMutaiD2HGDH
DMDMi91208273

Proteomic databases

EPDiQ8N465
jPOSTiQ8N465
MassIVEiQ8N465
MaxQBiQ8N465
PaxDbiQ8N465
PeptideAtlasiQ8N465
PRIDEiQ8N465
ProteomicsDBi5910
71889 [Q8N465-1]
71890 [Q8N465-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
34576, 113 antibodies from 18 providers

The DNASU plasmid repository

More...
DNASUi
728294

Genome annotation databases

EnsembliENST00000321264.9; ENSP00000315351.4; ENSG00000180902.18
GeneIDi728294
KEGGihsa:728294
MANE-SelectiENST00000321264.9; ENSP00000315351.4; NM_152783.5; NP_689996.4
UCSCiuc002wce.3, human [Q8N465-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
728294
DisGeNETi728294

GeneCards: human genes, protein and diseases

More...
GeneCardsi
D2HGDH
HGNCiHGNC:28358, D2HGDH
HPAiENSG00000180902, Low tissue specificity
MalaCardsiD2HGDH
MIMi600721, phenotype
609186, gene
neXtProtiNX_Q8N465
OpenTargetsiENSG00000180902
Orphaneti79315, D-2-hydroxyglutaric aciduria
PharmGKBiPA143485446
VEuPathDBiHostDB:ENSG00000180902

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1232, Eukaryota
GeneTreeiENSGT00550000075086
InParanoidiQ8N465
OMAiCNDNMLA
OrthoDBi515900at2759
PhylomeDBiQ8N465
TreeFamiTF323342

Enzyme and pathway databases

BRENDAi1.1.99.39, 2681
PathwayCommonsiQ8N465
ReactomeiR-HSA-880009, Interconversion of 2-oxoglutarate and 2-hydroxyglutarate
SignaLinkiQ8N465
SIGNORiQ8N465

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
728294, 10 hits in 1079 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
D2HGDH, human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
D2HGDH

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
728294
PharosiQ8N465, Tbio

Protein Ontology

More...
PROi
PR:Q8N465
RNActiQ8N465, protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000180902, Expressed in right uterine tube and 194 other tissues
ExpressionAtlasiQ8N465, baseline and differential
GenevisibleiQ8N465, HS

Family and domain databases

Gene3Di1.10.45.10, 1 hit
3.30.43.10, 1 hit
3.30.465.10, 1 hit
InterProiView protein in InterPro
IPR016166, FAD-bd_PCMH
IPR036318, FAD-bd_PCMH-like_sf
IPR016167, FAD-bd_PCMH_sub1
IPR016169, FAD-bd_PCMH_sub2
IPR016164, FAD-linked_Oxase-like_C
IPR004113, FAD-linked_oxidase_C
IPR006094, Oxid_FAD_bind_N
IPR016171, Vanillyl_alc_oxidase_C-sub2
PfamiView protein in Pfam
PF02913, FAD-oxidase_C, 1 hit
PF01565, FAD_binding_4, 1 hit
SUPFAMiSSF55103, SSF55103, 1 hit
SSF56176, SSF56176, 1 hit
PROSITEiView protein in PROSITE
PS51387, FAD_PCMH, 1 hit

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiD2HDH_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8N465
Secondary accession number(s): B4E3L6
, E7ENP2, Q6IQ24, Q8N5Q8
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 4, 2006
Last sequence update: April 4, 2006
Last modified: May 25, 2022
This is version 168 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families
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