Aliases for LRRC43 Gene

Aliases for LRRC43 Gene

  • Leucine Rich Repeat Containing 43 2 3 5
  • Leucine-Rich Repeat-Containing Protein 43 3 4

External Ids for LRRC43 Gene

Previous GeneCards Identifiers for LRRC43 Gene

  • GC12P121178
  • GC12P122652
  • GC12P119614

Summaries for LRRC43 Gene

GeneCards Summary for LRRC43 Gene

LRRC43 (Leucine Rich Repeat Containing 43) is a Protein Coding gene. Diseases associated with LRRC43 include Alstrom Syndrome and Central Hypoventilation Syndrome, Congenital. An important paralog of this gene is LRRC9.

Additional gene information for LRRC43 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 LRRC43 Gene

Genomics for LRRC43 Gene

GeneHancer (GH) Regulatory Elements for LRRC43 Gene

Promoters and enhancers for LRRC43 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
GH12J122166 Enhancer 0.9 Ensembl ENCODE 506.6 -0.9 -937 0.4 MEF2C RCOR1 BCL11A TCF12 CBFB ZNF384 MEF2B NBN ASH2L BATF LRRC43 ENSG00000256546 AB372616
GH12J122167 Enhancer 0.7 Ensembl 506.6 -0.4 -419 0.6 TCF7 MEF2C RCOR1 BCL11A ZNF282 TCF12 IKZF1 NR2F1 NRF1 ATF2 LRRC43 AB372616
GH12J122182 Promoter/Enhancer 1.3 Ensembl ENCODE CraniofacialAtlas 12.3 +15.5 15482 1.2 GABPA HDAC2 SAP130 YY1 POLR2A GABPB1 SIN3A SMARCA4 ARID4B BHLHE40 IL31 HSALNG0094635 LRRC43 ENSG00000256546 piR-53177-010
GH12J122054 Enhancer 1.2 Ensembl ENCODE dbSUPER 11.8 -112.3 -112343 2.4 ZNF217 CTCF MYC SP1 GABPA REST TGIF2 RAD21 TRIM22 SMC3 ENSG00000256546 LRRC43 B3GNT4 DIABLO MLXIP LOC100506691 RF00017-1317 BCL7A
GH12J122076 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 5.5 -87.0 -86964 7.6 EP300 SIN3A TCF12 POLR2G USF1 SP1 PHF8 JUND FOS ZFX MLXIP PSMD9 SETD1B ZCCHC8 RSRC2 KNTC1 LRRC43 ENSG00000256546 KDM2B ORAI1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LRRC43 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LRRC43

Top Transcription factor binding sites by QIAGEN in the LRRC43 gene promoter:
  • AML1a
  • AP-1
  • FOXJ2
  • FOXJ2 (long isoform)
  • HFH-1
  • PPAR-alpha
  • STAT3
  • STAT5A

Genomic Locations for LRRC43 Gene

Genomic Locations for LRRC43 Gene
chr12:122,167,719-122,203,471
(GRCh38/hg38)
Size:
35,753 bases
Orientation:
Plus strand
chr12:122,652,266-122,688,018
(GRCh37/hg19)
Size:
35,753 bases
Orientation:
Plus strand

Genomic View for LRRC43 Gene

Genes around LRRC43 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LRRC43 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LRRC43 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LRRC43 Gene

Proteins for LRRC43 Gene

  • Protein details for LRRC43 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N309-LRC43_HUMAN
    Recommended name:
    Leucine-rich repeat-containing protein 43
    Protein Accession:
    Q8N309
    Secondary Accessions:
    • Q6ZVT9

    Protein attributes for LRRC43 Gene

    Size:
    656 amino acids
    Molecular mass:
    73022 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for LRRC43 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LRRC43 Gene

Post-translational modifications for LRRC43 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for LRRC43 Gene

No data available for DME Specific Peptides for LRRC43 Gene

Domains & Families for LRRC43 Gene

Gene Families for LRRC43 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for LRRC43 Gene

Blocks:
  • Leucine-rich repeat signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for LRRC43 Gene

GenScript: Design optimal peptide antigens:
  • Leucine-rich repeat-containing protein 43 (LRC43_HUMAN)
genes like me logo Genes that share domains with LRRC43: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for LRRC43 Gene

Function for LRRC43 Gene

Phenotypes From GWAS Catalog for LRRC43 Gene

genes like me logo Genes that share phenotypes with LRRC43: view

Animal Model Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for LRRC43 Gene

Localization for LRRC43 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 LRRC43 gene
Compartment Confidence
mitochondrion 1
nucleus 1
cytosol 1
plasma membrane 0
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Vesicles (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for LRRC43 Gene

Pathways & Interactions for LRRC43 Gene

PathCards logo

SuperPathways for LRRC43 Gene

No Data Available

Gene Ontology (GO) - Biological Process for LRRC43 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for LRRC43 Gene

Drugs & Compounds for LRRC43 Gene

No Compound Related Data Available

Transcripts for LRRC43 Gene

mRNA/cDNA for LRRC43 Gene

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

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for LRRC43 Gene

No ASD Table

Relevant External Links for LRRC43 Gene

GeneLoc Exon Structure for
LRRC43

Expression for LRRC43 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for LRRC43 Gene

mRNA differential expression in normal tissues according to GTEx for LRRC43 Gene

This gene is overexpressed in Testis (x6.7).

Protein differential expression in normal tissues from HIPED for LRRC43 Gene

This gene is overexpressed in Pancreas (41.2) and Blymphocyte (24.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for LRRC43 Gene



Protein tissue co-expression partners for LRRC43 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LRRC43

SOURCE GeneReport for Unigene cluster for LRRC43 Gene:

Hs.374856
genes like me logo Genes that share expression patterns with LRRC43: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for LRRC43 Gene

Orthologs for LRRC43 Gene

This gene was present in the common ancestor of chordates.

Orthologs for LRRC43 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LRRC43 31 30
  • 99.03 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lrrc43 30
  • 80.46 (n)
mouse
(Mus musculus)
Mammalia Lrrc43 17 31 30
  • 79.78 (n)
cow
(Bos Taurus)
Mammalia LRRC43 31 30
  • 77.5 (n)
OneToOne
dog
(Canis familiaris)
Mammalia LRRC43 31 30
  • 76.88 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia LRRC43 31
  • 49 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LRRC43 31
  • 47 (a)
OneToOne
chicken
(Gallus gallus)
Aves LRRC43 31 30
  • 59.15 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LRRC43 31
  • 46 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lrrc43 30
  • 51.79 (n)
Species where no ortholog for LRRC43 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)
  • fruit fly (Drosophila melanogaster)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for LRRC43 Gene

ENSEMBL:
Gene Tree for LRRC43 (if available)
TreeFam:
Gene Tree for LRRC43 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for LRRC43: view image

Paralogs for LRRC43 Gene

genes like me logo Genes that share paralogs with LRRC43: view

Variants for LRRC43 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LRRC43 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs11060094 - p.Gln256Lys

Additional dbSNP identifiers (rs#s) for LRRC43 Gene

Structural Variations from Database of Genomic Variants (DGV) for LRRC43 Gene

Variant ID Type Subtype PubMed ID
nsv1038827 CNV loss 25217958

Variation tolerance for LRRC43 Gene

Residual Variation Intolerance Score: 91.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.53; 85.98% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LRRC43 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
LRRC43

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LRRC43 Gene

Disorders for LRRC43 Gene

MalaCards: The human disease database

(2) MalaCards diseases for LRRC43 Gene - From: DISEASES

Disorder Aliases PubMed IDs
alstrom syndrome
  • alms
central hypoventilation syndrome, congenital
  • cchs
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for LRRC43

genes like me logo Genes that share disorders with LRRC43: view

No data available for UniProtKB/Swiss-Prot and Genatlas for LRRC43 Gene

Publications for LRRC43 Gene

  1. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 54
  2. The finished DNA sequence of human chromosome 12. (PMID: 16541075) Scherer SE … Baylor College of Medicine Human Genome Sequencing Center Sequence Production Team (Nature 2006) 4 54
  3. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K … Sugano S (Genome research 2006) 3 54
  4. 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) 4 54
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 4 54

Products for LRRC43 Gene

Sources for LRRC43 Gene