LDHAL6B Gene (Protein Coding)

Lactate Dehydrogenase A Like 6B

GC15P059206
GIFtS:
41
See more...

Aliases for LDHAL6B Gene

Aliases for LDHAL6B Gene

  • Lactate Dehydrogenase A Like 6B 2 3 5
  • LDHL 2 3 4
  • L-Lactate Dehydrogenase A-Like 6B 3 4
  • Lactate Dehydrogenase A-Like 6 2 3
  • EC 1.1.1.27 4 51
  • LDHAL6 3 4
  • LDH6B 2 3
  • Testicular Tissue Protein Li 105 3
  • EC 1.1.1 51
  • LDHAL6B 5

External Ids for LDHAL6B Gene

Previous HGNC Symbols for LDHAL6B Gene

  • LDHAL6

Previous GeneCards Identifiers for LDHAL6B Gene

  • GC15P057286
  • GC15P059499
  • GC15P036322

Summaries for LDHAL6B Gene

GeneCards Summary for LDHAL6B Gene

LDHAL6B (Lactate Dehydrogenase A Like 6B) is a Protein Coding gene. Diseases associated with LDHAL6B include Dressler's Syndrome and Myxedema. Among its related pathways are Central carbon metabolism in cancer and Pyruvate metabolism and Citric Acid (TCA) cycle. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and L-lactate dehydrogenase activity. An important paralog of this gene is LDHAL6A.

Additional gene information for LDHAL6B 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 LDHAL6B Gene

Genomics for LDHAL6B Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for LDHAL6B 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
GH15J059199 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 32.1 -6.6 -6576 2.2 ZNF639 PRDM6 JUND ZSCAN23 INSM2 ZNF24 ZBTB48 ZNF189 SREBF1 SP7 LDHAL6B BNIP2 RNF111 ADAM10 lnc-LDHAL6B-1 CCNB2 MYO1E
GH15J059173 Enhancer 1.1 FANTOM5 ENCODE dbSUPER 32.5 -30.8 -30790 4.6 CTCF REST SMC3 RAD21 YY1 POLR2A JUND SPI1 PKNOX1 NRF1 LDHAL6B FAM81A MYO1E RNF111 ADAM10 MIR2116 lnc-LDHAL6B-1 CCNB2
GH15J059168 Promoter/Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 15.7 -36.8 -36775 3.8 CEBPA POLR2A ZIC2 HOMEZ SAP130 ETV4 TEAD3 ZFP91 JUND ZNF384 MIR2116 LDHAL6B RNF111 ADAM10 SLTM RF00017-1798 CCNB2 MYO1E
GH15J059190 Enhancer 0.9 Ensembl ENCODE dbSUPER 22.1 -15.0 -15004 2.9 JUND MAFK POLR2A EP300 CEBPB FOS SIN3A NFIB lnc-LDHAL6B-1 LDHAL6B MIR2116 FAM81A CCNB2 MYO1E
GH15J059180 Enhancer 0.6 ENCODE dbSUPER 30.3 -25.9 -25860 0.7 POLR2A MAFK NR2F2 LDHAL6B RNU4-80P MIR2116 lnc-LDHAL6B-1 CCNB2 MYO1E
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LDHAL6B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LDHAL6B

Top Transcription factor binding sites by QIAGEN in the LDHAL6B gene promoter:
  • AhR
  • Arnt
  • c-Ets-1
  • C/EBPalpha
  • Evi-1
  • FOXI1
  • HFH-3
  • STAT1
  • TBP
  • TFIID

Genomic Locations for LDHAL6B Gene

Latest Assembly
chr15:59,206,843-59,208,588
(GRCh38/hg38)
Size:
1,746 bases
Orientation:
Plus strand

Previous Assembly
chr15:59,499,042-59,500,787
(GRCh37/hg19 by Entrez Gene)
Size:
1,746 bases
Orientation:
Plus strand

chr15:59,499,042-59,500,705
(GRCh37/hg19 by Ensembl)
Size:
1,664 bases
Orientation:
Plus strand

Genomic View for LDHAL6B Gene

Genes around LDHAL6B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LDHAL6B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LDHAL6B Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for LDHAL6B Gene

Proteins for LDHAL6B Gene

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  • Protein details for LDHAL6B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BYZ2-LDH6B_HUMAN
    Recommended name:
    L-lactate dehydrogenase A-like 6B
    Protein Accession:
    Q9BYZ2
    Secondary Accessions:
    • Q6DUY4
    • Q96LI2

    Protein attributes for LDHAL6B Gene

    Size:
    381 amino acids
    Molecular mass:
    41943 Da
    Quaternary structure:
    No Data Available

neXtProt entry for LDHAL6B Gene

Protein Expression for LDHAL6B Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for LDHAL6B Gene

Q9BYZ2:
  • LDTARFR
  • GEHGDSSV
  • MDLQHGS
  • WAIGLSV
  • EDKLKGE
  • SCHGWILGEHGDS
  • NPVDILT
  • ILGEHGD
  • LVIITAGARQ
  • ACAISIL
  • IGSGCNLD

Post-translational modifications for LDHAL6B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for LDHAL6B Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Boster Bio Antibodies for LDHAL6B

Domains & Families for LDHAL6B Gene

Gene Families for LDHAL6B Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for LDHAL6B Gene

InterPro:
Blocks:
  • UBA/THIF-type NAD/FAD binding fold
  • L-lactate dehydrogenase
  • L-lactate dehydrogenase
ProtoNet:

Suggested Antigen Peptide Sequences for LDHAL6B Gene

GenScript: Design optimal peptide antigens:
  • L-lactate dehydrogenase A-like 6B (LDH6B_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BYZ2

UniProtKB/Swiss-Prot:

LDH6B_HUMAN :
  • Belongs to the LDH/MDH superfamily. LDH family.
Family:
  • Belongs to the LDH/MDH superfamily. LDH family.
genes like me logo Genes that share domains with LDHAL6B: view

Function for LDHAL6B Gene

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  6. Cell Lines for research

Molecular function for LDHAL6B Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(S)-lactate + NAD(+) = H(+) + NADH + pyruvate; Xref=Rhea:RHEA:23444, ChEBI:CHEBI:15361, ChEBI:CHEBI:15378, ChEBI:CHEBI:16651, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=1.1.1.27;.

Enzyme Numbers (IUBMB) for LDHAL6B Gene

Phenotypes From GWAS Catalog for LDHAL6B Gene

Gene Ontology (GO) - Molecular Function for LDHAL6B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004459 L-lactate dehydrogenase activity TAS --
GO:0005515 protein binding IPI 12107167
GO:0016491 oxidoreductase activity IEA --
GO:0016616 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor IEA --
genes like me logo Genes that share ontologies with LDHAL6B: view
genes like me logo Genes that share phenotypes with LDHAL6B: view

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LDHAL6B

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for LDHAL6B Gene

Localization for LDHAL6B 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 LDHAL6B gene
Compartment Confidence
mitochondrion 4
nucleus 4
cytosol 3
plasma membrane 2
extracellular 2
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for LDHAL6B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus HDA 21630459
GO:0005737 cytoplasm IEA --
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with LDHAL6B: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for LDHAL6B Gene

Pathways & Interactions for LDHAL6B Gene

genes like me logo Genes that share pathways with LDHAL6B: view

UniProtKB/Swiss-Prot Q9BYZ2-LDH6B_HUMAN

  • Pathway: Fermentation; pyruvate fermentation to lactate; (S)-lactate from pyruvate: step 1/1.

Gene Ontology (GO) - Biological Process for LDHAL6B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0006090 pyruvate metabolic process TAS --
GO:0019752 carboxylic acid metabolic process IEA --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with LDHAL6B: view

No data available for SIGNOR curated interactions for LDHAL6B Gene

Drugs & Compounds for LDHAL6B Gene

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(7) Drugs for LDHAL6B Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra Target 0
L-Lactic acid Approved, Experimental Pharma 0
Pyruvic acid Approved, Investigational Nutra 0
2-Ketobutyric acid Experimental Pharma 0
NAD Experimental Pharma 0

(5) Additional Compounds for LDHAL6B Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
2-Hydroxybutyric acid
  • (S)-2-Hydroxybutanoic acid
  • 2-Hydroxybutyrate
  • 2-Hydroxybutyric acid
  • L-2-Hydroxybutanoic acid
  • L-2-Hydroxybutyric acid
 3347-90-8
3-Mercaptolactic acid
  • 3-Mercaptolactate
  • b-Mercaptolactate
  • b-Mercaptolactic acid
  • beta-Mercaptolactate
  • beta-Mercaptolactic acid
 2614-83-7
3-Mercaptopyruvic acid
  • 3-Mercapto-2-oxopropanoic acid
  • 3-Mercaptopyruvate
  • Mercaptopyruvate
  • 3-Mercapto-2-oxopropanoate
  • Mercaptopyruvic acid
 2464-23-5
Hydrogen Ion
  • H+
  • H(+)
  • Hydron
  • Hydrogen cation
  • Proton
genes like me logo Genes that share compounds with LDHAL6B: view

Transcripts for LDHAL6B Gene

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mRNA/cDNA for LDHAL6B Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LDHAL6B

Alternative Splicing Database (ASD) splice patterns (SP) for LDHAL6B Gene

No ASD Table

Relevant External Links for LDHAL6B Gene

GeneLoc Exon Structure for
LDHAL6B

Expression for LDHAL6B Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for LDHAL6B Gene

mRNA expression in normal human tissues for LDHAL6B Gene
mRNA expression by BioGPS for LDHAL6B GenemRNA expression by GTEx for LDHAL6B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for LDHAL6B Gene

This gene is overexpressed in Testis (x42.9).

Protein differential expression in normal tissues from HIPED for LDHAL6B Gene

This gene is overexpressed in Lung (22.7), Testis (17.2), Ovary (13.2), and Heart (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for LDHAL6B Gene



Protein tissue co-expression partners for LDHAL6B Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LDHAL6B

SOURCE GeneReport for Unigene cluster for LDHAL6B Gene:

Hs.307052

mRNA Expression by UniProt/SwissProt for LDHAL6B Gene:

Q9BYZ2-LDH6B_HUMAN
Tissue specificity: Testis specific.

Evidence on tissue expression from TISSUES for LDHAL6B Gene

  • Heart(2.6)
  • Liver(2.5)
  • Blood(2.3)
  • Muscle(2.2)
genes like me logo Genes that share expression patterns with LDHAL6B: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for LDHAL6B Gene

Orthologs for LDHAL6B Gene

This gene was present in the common ancestor of animals.

Orthologs for LDHAL6B Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia LDHAL6B 30 31
  • 99.56 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia LDHAL6B 30
  • 85.39 (n)
Dog
(Canis familiaris)
 Mammalia LOC484048 30
  • 83.64 (n)
LDHB 31
  • 65 (a)
 ManyToMany
Rat
(Rattus norvegicus)
 Mammalia Ldhal6b 30
  • 77.25 (n)
Mouse
(Mus musculus)
 Mammalia Ldhal6b 30 17
  • 76.03 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 31
  • 68 (a)
 ManyToMany
-- 31
  • 61 (a)
 ManyToMany
Chicken
(Gallus gallus)
 Aves LDHA 31
  • 67 (a)
 OneToMany
Lizard
(Anolis carolinensis)
 Reptilia -- 31
  • 67 (a)
 OneToMany
Zebrafish
(Danio rerio)
 Actinopterygii ldha 31
  • 66 (a)
 OneToMany
Fruit Fly
(Drosophila melanogaster)
 Insecta ImpL3 31
  • 57 (a)
 ManyToMany
CG13334 31
  • 38 (a)
 ManyToMany
Worm
(Caenorhabditis elegans)
 Secernentea ldh-1 31
  • 55 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.11301 31
  • 50 (a)
 OneToMany
Species where no ortholog for LDHAL6B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Oppossum (Monodelphis domestica)
  • 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 Vase (Ciona intestinalis)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for LDHAL6B Gene

ENSEMBL:
Gene Tree for LDHAL6B (if available)
TreeFam:
Gene Tree for LDHAL6B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for LDHAL6B: view image

Paralogs for LDHAL6B Gene

Paralogs for LDHAL6B Gene

(5) SIMAP similar genes for LDHAL6B Gene using alignment to 1 proteins:

  • LDH6B_HUMAN

Pseudogenes.org Pseudogenes for LDHAL6B Gene

genes like me logo Genes that share paralogs with LDHAL6B: view

Variants for LDHAL6B Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LDHAL6B Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
rs35212259 - p.Pro259Ser
rs3809529 - p.Pro30Leu
rs3809530 - p.Val14Met
rs3825937 - p.Ile326Thr

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for LDHAL6B Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for LDHAL6B Gene

Variant ID Type Subtype PubMed ID
nsv527307 CNV gain 19592680
nsv7266 OTHER inversion 18451855
nsv833025 CNV gain 17160897
nsv833027 CNV gain+loss 17160897
nsv974584 CNV duplication 23825009

Variation tolerance for LDHAL6B Gene

Residual Variation Intolerance Score: 83.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 17.13; 98.06% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LDHAL6B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
LDHAL6B

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LDHAL6B Gene

Disorders for LDHAL6B Gene

MalaCards: The human disease database

(2) MalaCards diseases for LDHAL6B Gene - From: COP

Disorder Aliases PubMed IDs
dressler's syndrome
  • dressler syndrome
myxedema
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for LDHAL6B

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with LDHAL6B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for LDHAL6B Gene

Publications for LDHAL6B Gene

  1. Cloning and characterization of a novel intronless lactate dehydrogenase gene in human testis. (PMID: 15870898) Wang H … Sha J (International journal of molecular medicine 2005) 2 3 23
  2. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F … Nebel A (Mutation research 2010) 3 41
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

ExternalLinks

View latest publications for LDHAL6B gene in Mastermind

Products for LDHAL6B Gene

Sources for LDHAL6B Gene