Aliases for MDH1B Gene

Aliases for MDH1B Gene

  • Malate Dehydrogenase 1B 2 3 5
  • Malate Dehydrogenase 1B, NAD (Soluble) 2 3
  • Putative Malate Dehydrogenase 1B 3 4
  • RP11-95H11 3
  • EC 1.1.1.- 4

External Ids for MDH1B Gene

Previous GeneCards Identifiers for MDH1B Gene

  • GC00U991156
  • GC02M207805
  • GC02M207428
  • GC02M207310
  • GC02M207602
  • GC02M199451

Summaries for MDH1B Gene

GeneCards Summary for MDH1B Gene

MDH1B (Malate Dehydrogenase 1B) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor and malate dehydrogenase activity. An important paralog of this gene is MDH1.

Additional gene information for MDH1B Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MDH1B Gene

Genomics for MDH1B Gene

GeneHancer (GH) Regulatory Elements for MDH1B Gene

Promoters and enhancers for MDH1B Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J206764 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 514.4 -0.2 -242 2.8 ZBTB40 ZNF217 SIN3A NRF1 TCF12 POLR2G NCOR1 PHF8 FOS ZFX MDH1B FASTKD2 MIR3130-2
GH02J206823 Enhancer 0.7 FANTOM5 Ensembl 13.7 -57.6 -57606 0.7 NR2F2 NR3C1 ZBTB40 RAD21 RXRA HNF4A TRIM28 ATF3 FOXA1 SP1 ENSG00000260171 MDH1B CPO KLF7 lnc-MDH1B-7 ENSG00000229321
GH02J206800 Enhancer 0.6 ENCODE 14.7 -35.4 -35357 1 EP300 CTCF REST RAD21 TRIM22 SMC3 ZNF654 SMARCA4 XRCC5 ELF3 HSALNG0021821 MDH1B DYTN CPO ENSG00000229321 piR-32559-232
GH02J206846 Enhancer 0.8 Ensembl 8 -81.5 -81452 1.6 EP300 NCOR1 KDM6A TCF7 ZBTB7A SKI TEAD1 TBX3 FOXA2 KAT7 MDH1B ENSG00000223725 lnc-MDH1B-7 CPO ENSG00000229321
GH02J206802 Enhancer 0.7 FANTOM5 Ensembl ENCODE 8.4 -38.2 -38219 2.3 POLR2A REST STAT3 DYTN CPO MDH1B ENSG00000223725 HSALNG0021821 piR-32559-232 ENSG00000229321
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MDH1B on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MDH1B

Top Transcription factor binding sites by QIAGEN in the MDH1B gene promoter:
  • AREB6
  • C/EBPalpha
  • Cdc5
  • CUTL1
  • HFH-1
  • HSF1 (long)
  • Ik-1
  • POU2F1
  • POU2F1a
  • Sox9

Genomic Locations for MDH1B Gene

Genomic Locations for MDH1B Gene
chr2:206,737,763-206,765,549
(GRCh38/hg38)
Size:
27,787 bases
Orientation:
Minus strand
chr2:207,602,487-207,630,271
(GRCh37/hg19)
Size:
27,785 bases
Orientation:
Minus strand

Genomic View for MDH1B Gene

Genes around MDH1B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MDH1B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MDH1B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MDH1B Gene

Proteins for MDH1B Gene

  • Protein details for MDH1B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5I0G3-MDH1B_HUMAN
    Recommended name:
    Putative malate dehydrogenase 1B
    Protein Accession:
    Q5I0G3
    Secondary Accessions:
    • A8K8M1
    • Q53TK9
    • Q8IV51

    Protein attributes for MDH1B Gene

    Size:
    518 amino acids
    Molecular mass:
    58651 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for MDH1B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MDH1B Gene

Post-translational modifications for MDH1B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MDH1B Gene

Domains & Families for MDH1B Gene

Gene Families for MDH1B Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for MDH1B Gene

Blocks:
  • Malate dehydrogenase
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MDH1B Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ51389, highly similar to Homo sapiens malate dehydrogenase 1B, NAD (MDH1B), mRNA (B4DY40_HUMAN)
  • Putative malate dehydrogenase 1B (MDH1B_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q5I0G3

UniProtKB/Swiss-Prot:

MDH1B_HUMAN :
  • Belongs to the LDH/MDH superfamily. MDH type 2 family.
Family:
  • Belongs to the LDH/MDH superfamily. MDH type 2 family.
genes like me logo Genes that share domains with MDH1B: view

Function for MDH1B Gene

Enzyme Numbers (IUBMB) for MDH1B Gene

Phenotypes From GWAS Catalog for MDH1B Gene

Gene Ontology (GO) - Molecular Function for MDH1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016491 oxidoreductase activity IEA --
GO:0016615 malate dehydrogenase activity IEA --
GO:0016616 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor IEA --
GO:0030060 L-malate dehydrogenase activity IBA 21873635
genes like me logo Genes that share ontologies with MDH1B: view
genes like me logo Genes that share phenotypes with MDH1B: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MDH1B

No data available for Molecular function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for MDH1B Gene

Localization for MDH1B Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MDH1B gene
Compartment Confidence
cytosol 2
cytoskeleton 1
mitochondrion 1
nucleus 1
extracellular 0
peroxisome 0

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for MDH1B Gene

Pathways & Interactions for MDH1B Gene

PathCards logo

SuperPathways for MDH1B Gene

No Data Available

Interacting Proteins for MDH1B Gene

;

Gene Ontology (GO) - Biological Process for MDH1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0006099 tricarboxylic acid cycle IBA 21873635
GO:0006107 oxaloacetate metabolic process IBA 21873635
GO:0006108 malate metabolic process IEA,IBA 21873635
GO:0006734 NADH metabolic process IBA 21873635
genes like me logo Genes that share ontologies with MDH1B: view

No data available for Pathways by source and SIGNOR curated interactions for MDH1B Gene

Drugs & Compounds for MDH1B Gene

No Compound Related Data Available

Transcripts for MDH1B Gene

mRNA/cDNA for MDH1B Gene

7 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MDH1B

Alternative Splicing Database (ASD) splice patterns (SP) for MDH1B Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12
SP1: - -
SP2: - - -
SP3: - - -
SP4:

Relevant External Links for MDH1B Gene

GeneLoc Exon Structure for
MDH1B

Expression for MDH1B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MDH1B Gene

mRNA differential expression in normal tissues according to GTEx for MDH1B Gene

This gene is overexpressed in Testis (x8.1) and Pituitary (x5.8).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MDH1B

SOURCE GeneReport for Unigene cluster for MDH1B Gene:

Hs.147816

Evidence on tissue expression from TISSUES for MDH1B Gene

  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with MDH1B: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MDH1B Gene

Orthologs for MDH1B Gene

This gene was present in the common ancestor of animals.

Orthologs for MDH1B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MDH1B 31 30
  • 99.16 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MDH1B 31 30
  • 83.51 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MDH1B 31 30
  • 83.49 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mdh1b 30
  • 77.36 (n)
mouse
(Mus musculus)
Mammalia Mdh1b 17 31 30
  • 77.16 (n)
oppossum
(Monodelphis domestica)
Mammalia MDH1B 31
  • 58 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MDH1B 31
  • 56 (a)
OneToOne
chicken
(Gallus gallus)
Aves MDH1B 31 30
  • 63.26 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MDH1B 31
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mdh1b 30
  • 60.25 (n)
zebrafish
(Danio rerio)
Actinopterygii zgc:153922 30
  • 55.34 (n)
mdh1b 31
  • 42 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Mdh1 31
  • 26 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea mdh-1 31
  • 26 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 29 (a)
OneToOne
Species where no ortholog for MDH1B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MDH1B Gene

ENSEMBL:
Gene Tree for MDH1B (if available)
TreeFam:
Gene Tree for MDH1B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MDH1B: view image

Paralogs for MDH1B Gene

Paralogs for MDH1B Gene

(1) SIMAP similar genes for MDH1B Gene using alignment to 3 proteins:

  • MDH1B_HUMAN
  • B4DY40_HUMAN
  • C9JER5_HUMAN
genes like me logo Genes that share paralogs with MDH1B: view

Variants for MDH1B Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MDH1B Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
rs539716623 Uncertain Significance: Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency 206,765,527(-) T/C NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT
rs2287631 - p.Glu510Asp
rs2287632 - p.Thr515Ala
VAR_064729 - p.Leu48Ile

Additional dbSNP identifiers (rs#s) for MDH1B Gene

Structural Variations from Database of Genomic Variants (DGV) for MDH1B Gene

Variant ID Type Subtype PubMed ID
nsv1011347 CNV gain 25217958
nsv471931 CNV novel sequence insertion 20440878

Variation tolerance for MDH1B Gene

Residual Variation Intolerance Score: 78.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.65; 56.83% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MDH1B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MDH1B

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MDH1B Gene

Disorders for MDH1B Gene

Additional Disease Information for MDH1B

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for MDH1B Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MDH1B Gene

Publications for MDH1B Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  2. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3 54
  3. Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma. (PMID: 21248752) Varela I … Futreal PA (Nature 2011) 4 54
  4. Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study. (PMID: 17903301) Vasan RS … Benjamin EJ (BMC medical genetics 2007) 41 54
  5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 4 54

Products for MDH1B Gene

Sources for MDH1B Gene