The protein encoded by this gene contains several leucine-rich repeat domains and appears to be involved in the motility of cilia. Defects in this gene are a cause of primary ciliary dyskinesia-19 (CILD19). Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 4, 11 and 22. [provided by RefSeq, Apr 201... See more...

Aliases for LRRC6 Gene

Aliases for LRRC6 Gene

  • Leucine Rich Repeat Containing 6 2 3 5
  • Testis-Specific Leucine-Rich Repeat Protein 3 4
  • Protein TilB Homolog 3 4
  • TSLRP 3 4
  • LRTP 3 4
  • Leucine-Rich Repeat-Containing Protein 6 4
  • Leucine-Rich Testis-Specific Protein 4
  • Leucine Rich Testes Protein 2
  • Protein TILB Homolog 3
  • CILD19 3

External Ids for LRRC6 Gene

Previous GeneCards Identifiers for LRRC6 Gene

  • GC08M133653
  • GC08M128902
  • GC08M133584

Summaries for LRRC6 Gene

Entrez Gene Summary for LRRC6 Gene

  • The protein encoded by this gene contains several leucine-rich repeat domains and appears to be involved in the motility of cilia. Defects in this gene are a cause of primary ciliary dyskinesia-19 (CILD19). Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 4, 11 and 22. [provided by RefSeq, Apr 2016]

GeneCards Summary for LRRC6 Gene

LRRC6 (Leucine Rich Repeat Containing 6) is a Protein Coding gene. Diseases associated with LRRC6 include Ciliary Dyskinesia, Primary, 19 and Ciliary Dyskinesia, Primary, 1. An important paralog of this gene is LRRC9.

UniProtKB/Swiss-Prot Summary for LRRC6 Gene

  • May play a role in dynein arm assembly, hence essential for proper axoneme building for cilia motility.

Additional gene information for LRRC6 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LRRC6 Gene

Genomics for LRRC6 Gene

GeneHancer (GH) Regulatory Elements for LRRC6 Gene

Promoters and enhancers for LRRC6 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
GH08J132674 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 507.6 +9.7 9696 2 ZNF217 EP300 SIN3A PHF8 TEAD4 ZBTB10 ZBTB26 TARDBP SAP30 RFX1 LRRC6 LOC105375767 lnc-PHF20L1-4 lnc-TMEM71-5 RF00017-7332
GH08J132758 Promoter/Enhancer 1.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 28.3 -75.0 -75031 4.2 CTCF POLR2A SPI1 JUND FOS FOXP2 JUN BHLHE40 RNF2 MAZ TMEM71 lnc-TMEM71-3 PHF20L1 LRRC6 piR-46847-275
GH08J132702 Enhancer 0.8 Ensembl ENCODE 50.8 -18.5 -18504 2 TCF7 ZNF316 MAFF USF1 FOS MAFK FOSL1 FOSL2 MAFG MITF ENSG00000287095 lnc-TMEM71-2 LRRC6 piR-46847-275 TMEM71
GH08J132687 Enhancer 0.6 Ensembl ENCODE 40.7 -2.8 -2804 1 CTCF TCF12 SPI1 JUND LRRC6 TMEM71 lnc-TMEM71-2
GH08J132832 Enhancer 1.1 FANTOM5 Ensembl ENCODE 14.3 -149.2 -149192 3 RBM25 BCL11A RELA TCF12 CBFB CEBPG SPI1 TAL1 PAX5 ATF2 NONHSAG051319.2 PHF20L1 LRRC6 TG ENSG00000223697
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LRRC6 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LRRC6

Top Transcription factor binding sites by QIAGEN in the LRRC6 gene promoter:
  • Cart-1
  • FOXI1
  • FOXO4
  • HFH-3
  • HSF1 (long)
  • HSF1short
  • Pax-4a
  • POU2F1
  • POU2F1a
  • YY1

Genomic Locations for LRRC6 Gene

Genomic Locations for LRRC6 Gene
chr8:132,570,416-132,685,097
(GRCh38/hg38)
Size:
114,682 bases
Orientation:
Minus strand
chr8:133,584,320-133,687,838
(GRCh37/hg19)
Size:
103,519 bases
Orientation:
Minus strand

Genomic View for LRRC6 Gene

Genes around LRRC6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LRRC6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LRRC6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LRRC6 Gene

Proteins for LRRC6 Gene

  • Protein details for LRRC6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86X45-TILB_HUMAN
    Recommended name:
    Protein tilB homolog
    Protein Accession:
    Q86X45
    Secondary Accessions:
    • Q13648
    • Q4G183

    Protein attributes for LRRC6 Gene

    Size:
    466 amino acids
    Molecular mass:
    54255 Da
    Quaternary structure:
    • Interacts (via CS domain) with ZMYND10 (via C-terminus).

    Alternative splice isoforms for LRRC6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LRRC6 Gene

Post-translational modifications for LRRC6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for LRRC6 Gene

Domains & Families for LRRC6 Gene

Gene Families for LRRC6 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for LRRC6 Gene

Blocks:
  • Leucine-rich-associated
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for LRRC6 Gene

GenScript: Design optimal peptide antigens:
  • Testis-specific leucine-rich repeat protein (LRRC6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q86X45

UniProtKB/Swiss-Prot:

TILB_HUMAN :
  • Belongs to the tilB family.
Family:
  • Belongs to the tilB family.
genes like me logo Genes that share domains with LRRC6: view

Function for LRRC6 Gene

Molecular function for LRRC6 Gene

UniProtKB/Swiss-Prot Function:
May play a role in dynein arm assembly, hence essential for proper axoneme building for cilia motility.

Phenotypes From GWAS Catalog for LRRC6 Gene

Gene Ontology (GO) - Molecular Function for LRRC6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IEA,IPI 23891469
genes like me logo Genes that share ontologies with LRRC6: view
genes like me logo Genes that share phenotypes with LRRC6: view

Human Phenotype Ontology for LRRC6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for LRRC6 Gene

MGI Knock Outs for LRRC6:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LRRC6

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for LRRC6 Gene

Localization for LRRC6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LRRC6 Gene

Cytoplasm. Cell projection, cilium.

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 LRRC6 gene
Compartment Confidence
extracellular 3
cytoskeleton 2
nucleus 2
plasma membrane 1
mitochondrion 1
cytosol 1

Gene Ontology (GO) - Cellular Components for LRRC6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005737 cytoplasm ISS,IEA 10775177
GO:0005929 cilium IDA 23122589
GO:0042995 cell projection IEA --
genes like me logo Genes that share ontologies with LRRC6: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for LRRC6 Gene

Pathways & Interactions for LRRC6 Gene

PathCards logo

SuperPathways for LRRC6 Gene

No Data Available

Gene Ontology (GO) - Biological Process for LRRC6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003341 cilium movement IMP 23122589
GO:0008584 male gonad development ISS,IEA 10775177
GO:0030317 flagellated sperm motility IMP 23122589
GO:0036158 outer dynein arm assembly IMP 23122589
GO:0036159 inner dynein arm assembly IMP 23122589
genes like me logo Genes that share ontologies with LRRC6: view

No data available for Pathways by source and SIGNOR curated interactions for LRRC6 Gene

Drugs & Compounds for LRRC6 Gene

No Compound Related Data Available

Transcripts for LRRC6 Gene

mRNA/cDNA for LRRC6 Gene

7 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
13 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 LRRC6

Alternative Splicing Database (ASD) splice patterns (SP) for LRRC6 Gene

No ASD Table

Relevant External Links for LRRC6 Gene

GeneLoc Exon Structure for
LRRC6

Expression for LRRC6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for LRRC6 Gene

mRNA differential expression in normal tissues according to GTEx for LRRC6 Gene

This gene is overexpressed in Testis (x5.3).

Protein differential expression in normal tissues from HIPED for LRRC6 Gene

This gene is overexpressed in Plasma (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for LRRC6 Gene



Protein tissue co-expression partners for LRRC6 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LRRC6

SOURCE GeneReport for Unigene cluster for LRRC6 Gene:

Hs.591865

mRNA Expression by UniProt/SwissProt for LRRC6 Gene:

Q86X45-TILB_HUMAN
Tissue specificity: Expressed predominantly in testis and in nasal epithelial cells.

Evidence on tissue expression from TISSUES for LRRC6 Gene

  • Nervous system(4.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for LRRC6 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • epiglottis
  • eye
  • head
  • larynx
  • meninges
  • middle ear
  • mouth
  • neck
  • nose
  • olfactory bulb
  • outer ear
  • pharynx
  • sinus
  • skull
Thorax:
  • bronchus
  • lung
  • trachea
Abdomen:
  • spleen
Pelvis:
  • ovary
  • testicle
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • white blood cell
genes like me logo Genes that share expression patterns with LRRC6: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for LRRC6 Gene

Orthologs for LRRC6 Gene

This gene was present in the common ancestor of animals.

Orthologs for LRRC6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LRRC6 31 30
  • 99.28 (n)
OneToOne
dog
(Canis familiaris)
Mammalia LRRC6 31 30
  • 85.45 (n)
OneToOne
cow
(Bos Taurus)
Mammalia LRRC6 31 30
  • 83.01 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Lrrc6 17 31 30
  • 82.55 (n)
rat
(Rattus norvegicus)
Mammalia Lrrc6 30
  • 81.94 (n)
oppossum
(Monodelphis domestica)
Mammalia LRRC6 31
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LRRC6 31
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves LRRC6 31 30
  • 68.35 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LRRC6 31
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lrrc6 30
  • 63.19 (n)
LOC394985 30
zebrafish
(Danio rerio)
Actinopterygii lrrc6 31 30
  • 57.99 (n)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta tilB 31 30
  • 52.44 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008927 30
  • 51.22 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5801 31
  • 46 (a)
ManyToMany
Species where no ortholog for LRRC6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for LRRC6 Gene

ENSEMBL:
Gene Tree for LRRC6 (if available)
TreeFam:
Gene Tree for LRRC6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for LRRC6: view image

Paralogs for LRRC6 Gene

(4) SIMAP similar genes for LRRC6 Gene using alignment to 5 proteins:

  • TILB_HUMAN
  • E5RHF9_HUMAN
  • G5EA20_HUMAN
  • H0YAS5_HUMAN
  • H0YBC4_HUMAN

Pseudogenes.org Pseudogenes for LRRC6 Gene

genes like me logo Genes that share paralogs with LRRC6: view

Variants for LRRC6 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LRRC6 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
636351 Uncertain Significance: not provided 132,615,065(-) T/G MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT
640125 Uncertain Significance: Ciliary dyskinesia, primary, 19 132,611,349(-) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
644077 Uncertain Significance: Ciliary dyskinesia, primary, 19 132,611,341(-) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
652985 Pathogenic: Ciliary dyskinesia, primary, 19 132,675,483(-) C/T SPLICE_DONOR_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT
653492 Uncertain Significance: Ciliary dyskinesia, primary, 19 132,622,608(-) T/C INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for LRRC6 Gene

Structural Variations from Database of Genomic Variants (DGV) for LRRC6 Gene

Variant ID Type Subtype PubMed ID
esv2759642 CNV gain+loss 17122850
esv3618874 CNV loss 21293372
esv3618876 CNV loss 21293372
esv3618877 CNV loss 21293372
esv8613 CNV gain 19470904
nsv428206 CNV gain 18775914
nsv472290 CNV novel sequence insertion 20440878

Variation tolerance for LRRC6 Gene

Residual Variation Intolerance Score: 75.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.39; 81.76% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LRRC6 Gene

Human Gene Mutation Database (HGMD)
LRRC6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LRRC6

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LRRC6 Gene

Disorders for LRRC6 Gene

MalaCards: The human disease database

(7) MalaCards diseases for LRRC6 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search LRRC6 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TILB_HUMAN
  • Ciliary dyskinesia, primary, 19 (CILD19) [MIM:614935]: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. {ECO:0000269 PubMed:23122589, ECO:0000269 PubMed:23891469, ECO:0000269 PubMed:25186273}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for LRRC6

genes like me logo Genes that share disorders with LRRC6: view

No data available for Genatlas for LRRC6 Gene

Publications for LRRC6 Gene

  1. Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia. (PMID: 23122589) Kott E … Amselem S (American journal of human genetics 2012) 2 3 4 54
  2. ZMYND10 stabilizes intermediate chain proteins in the cytoplasmic pre-assembly of dynein arms. (PMID: 29601588) Cho KJ … Gee HY (PLoS genetics 2018) 3 4 54
  3. Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia. (PMID: 25186273) Raidt J … Werner C (The European respiratory journal 2014) 3 4 54
  4. ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. (PMID: 23891469) Zariwala MA … Hildebrandt F (American journal of human genetics 2013) 3 4 54
  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 54

Products for LRRC6 Gene

Sources for LRRC6 Gene