Aliases for LRRC30 Gene

Aliases for LRRC30 Gene

  • Leucine Rich Repeat Containing 30 2 3 5
  • Leucine-Rich Repeat-Containing Protein 30 3 4

External Ids for LRRC30 Gene

Summaries for LRRC30 Gene

GeneCards Summary for LRRC30 Gene

LRRC30 (Leucine Rich Repeat Containing 30) is a Protein Coding gene. An important paralog of this gene is LRRC40.

Additional gene information for LRRC30 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 LRRC30 Gene

Genomics for LRRC30 Gene

GeneHancer (GH) Regulatory Elements for LRRC30 Gene

Promoters and enhancers for LRRC30 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
GH18J007230 Promoter/Enhancer 0.5 Ensembl ENCODE 750.6 +0.8 835 2.9 LRRC30 LOC105371973
GH18J007172 Enhancer 0.6 Ensembl ENCODE 10.9 -57.4 -57384 3 CTCF CEBPB RAD21 SMC3 STAT1 LRRC30 LAMA1 piR-43105-281 piR-50437-291
GH18J007256 Enhancer 0.5 Ensembl ENCODE 11.5 +25.9 25929 1.3 EZH2 STAT1 LRRC30 LOC105371973
GH18J007259 Enhancer 0.4 Ensembl 11.6 +29.0 28976 1 RXRA RCOR1 NR2F2 ENSG00000212626 LRRC30 PTPRM LOC105371973
GH18J007203 Enhancer 0.3 Ensembl 13.2 -28.7 -28719 0.4 POLR2A RCOR1 piR-43099-264 piR-43583-241 piR-49731-005 piR-50308-284 piR-48773-011 LRRC30 piR-33614-124
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LRRC30 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the LRRC30 gene promoter:
  • c-Myb
  • CUTL1
  • FOXO4
  • GATA-6
  • GR
  • GR-alpha
  • LUN-1
  • Olf-1
  • STAT1
  • STAT1alpha

Genomic Locations for LRRC30 Gene

Genomic Locations for LRRC30 Gene
chr18:7,231,125-7,232,047
(GRCh38/hg38)
Size:
923 bases
Orientation:
Plus strand
chr18:7,231,123-7,232,045
(GRCh37/hg19)
Size:
923 bases
Orientation:
Plus strand

Genomic View for LRRC30 Gene

Genes around LRRC30 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LRRC30 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LRRC30 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LRRC30 Gene

Proteins for LRRC30 Gene

  • Protein details for LRRC30 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A6NM36-LRC30_HUMAN
    Recommended name:
    Leucine-rich repeat-containing protein 30
    Protein Accession:
    A6NM36

    Protein attributes for LRRC30 Gene

    Size:
    301 amino acids
    Molecular mass:
    34034 Da
    Quaternary structure:
    No Data Available

neXtProt entry for LRRC30 Gene

Post-translational modifications for LRRC30 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for LRRC30 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for LRRC30 Gene

Domains & Families for LRRC30 Gene

Gene Families for LRRC30 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for LRRC30 Gene

Suggested Antigen Peptide Sequences for LRRC30 Gene

GenScript: Design optimal peptide antigens:
  • Leucine-rich repeat-containing protein 30 (LRC30_HUMAN)
genes like me logo Genes that share domains with LRRC30: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for LRRC30 Gene

Function for LRRC30 Gene

Phenotypes From GWAS Catalog for LRRC30 Gene

Gene Ontology (GO) - Molecular Function for LRRC30 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004722 protein serine/threonine phosphatase activity IBA 21873635
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with LRRC30: view
genes like me logo Genes that share phenotypes with LRRC30: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for LRRC30 Gene

Localization for LRRC30 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 LRRC30 gene
Compartment Confidence
plasma membrane 3
nucleus 2
extracellular 1
cytosol 1
mitochondrion 0

Gene Ontology (GO) - Cellular Components for LRRC30 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001917 photoreceptor inner segment IBA 21873635
GO:0042622 photoreceptor outer segment membrane IBA 21873635
genes like me logo Genes that share ontologies with LRRC30: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for LRRC30 Gene

Pathways & Interactions for LRRC30 Gene

PathCards logo

SuperPathways for LRRC30 Gene

No Data Available

Interacting Proteins for LRRC30 Gene

Gene Ontology (GO) - Biological Process for LRRC30 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006470 protein dephosphorylation IBA 21873635
genes like me logo Genes that share ontologies with LRRC30: view

No data available for Pathways by source and SIGNOR curated interactions for LRRC30 Gene

Drugs & Compounds for LRRC30 Gene

No Compound Related Data Available

Transcripts for LRRC30 Gene

mRNA/cDNA for LRRC30 Gene

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(1) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for LRRC30 Gene

No ASD Table

Relevant External Links for LRRC30 Gene

GeneLoc Exon Structure for
LRRC30
ECgene alternative splicing isoforms for
LRRC30

Expression for LRRC30 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for LRRC30 Gene

mRNA differential expression in normal tissues according to GTEx for LRRC30 Gene

This gene is overexpressed in Muscle - Skeletal (x51.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for LRRC30 Gene



NURSA nuclear receptor signaling pathways regulating expression of LRRC30 Gene:

LRRC30

SOURCE GeneReport for Unigene cluster for LRRC30 Gene:

Hs.647588
genes like me logo Genes that share expression patterns with LRRC30: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for LRRC30 Gene

Orthologs for LRRC30 Gene

This gene was present in the common ancestor of chordates.

Orthologs for LRRC30 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LRRC30 33 32
  • 99.34 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Lrrc30 17 33 32
  • 86.33 (n)
rat
(Rattus norvegicus)
Mammalia Lrrc30 32
  • 85.78 (n)
dog
(Canis familiaris)
Mammalia LRRC30 33 32
  • 84.44 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MGC160046 33
  • 84 (a)
OneToOne
LRRC30 32
  • 82.44 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia LRRC30 33
  • 76 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia LRRC30 33
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves LRRC30 33 32
  • 69.48 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LRRC30 33
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lrrc30 32
  • 58.97 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100534875 32
  • 59.92 (n)
lrrc30a 33
  • 55 (a)
OneToMany
LRRC30 (2 of 2) 33
  • 42 (a)
OneToMany
Species where no ortholog for LRRC30 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)

Evolution for LRRC30 Gene

ENSEMBL:
Gene Tree for LRRC30 (if available)
TreeFam:
Gene Tree for LRRC30 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for LRRC30: view image

Paralogs for LRRC30 Gene

(1) SIMAP similar genes for LRRC30 Gene using alignment to 1 proteins:

  • LRC30_HUMAN
genes like me logo Genes that share paralogs with LRRC30: view

Variants for LRRC30 Gene

Sequence variations from dbSNP and Humsavar for LRRC30 Gene

SNP ID Clin Chr 18 pos Variation AA Info Type
rs1001611063 -- 7,229,156(+) A/G upstream_transcript_variant
rs1001667207 -- 7,231,063(+) C/T upstream_transcript_variant
rs1002480757 -- 7,232,407(+) G/T downstream_transcript_variant
rs1002640293 -- 7,230,067(+) C/A/T upstream_transcript_variant
rs1004435862 -- 7,232,052(+) CCC/CCCC 3_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for LRRC30 Gene

Variant ID Type Subtype PubMed ID
esv2656232 CNV gain 23635498
esv3584943 CNV gain 24956385
esv3641687 CNV gain 21293372
esv3893068 CNV gain 25118596
nsv1063350 CNV gain 25217958
nsv1064175 CNV gain 25217958
nsv1064695 CNV gain 25217958
nsv1064849 CNV gain 25217958
nsv526300 CNV loss 19592680

Variation tolerance for LRRC30 Gene

Residual Variation Intolerance Score: 50.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.43; 28.00% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LRRC30 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
LRRC30

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LRRC30 Gene

Disorders for LRRC30 Gene

Additional Disease Information for LRRC30

No disorders were found for LRRC30 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for LRRC30 Gene

Publications for LRRC30 Gene

  1. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3 56
  2. Chromosome 6p22 locus associated with clinically aggressive neuroblastoma. (PMID: 18463370) Maris JM … Hakonarson H (The New England journal of medicine 2008) 43 56
  3. DNA sequence and analysis of human chromosome 18. (PMID: 16177791) Nusbaum C … Lander ES (Nature 2005) 4 56

Products for LRRC30 Gene

Sources for LRRC30 Gene