• Gene id: 23639

Gene Summary

• Gene Symbol: LRRC6   Gene   UCSC   Ensembl
• Aliases: CILD19, LRTP, TSLRP, tilB
• Gene name: leucine rich repeat containing 6
• Alternate names: protein tilB homolog, protein TILB homolog, seahorse, testis-specific leucine-rich repeat protein,
• Gene location: 8q24.22 (132685038: 132570415)     Exons: 17     NC_000008.11
• Gene summary(Entrez): 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 mul
• OMIM: 614930

SNPs

rs397515461

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000008.11   g.132632831G>A
NC_000008.10   g.133645077G>A
NG_033068.1   g.47787C>T
NM_012472.5   c.562C>T
NM_012472.6   c.562C>T
NM_012472.4   c.562C>T
NR_073525.2   n.686C>T
NR_073525.1   n.686C>T
NM_001321965.1   c.202C>T
NM_001321965.2   c.202C>T
NM_001321964.1   c.2

rs397515425

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000008.11   g.132632818dup
NC_000008.10   g.133645064dup
NG_033068.1   g.47801dup
NM_012472.5   c.576dup
NM_012472.6   c.576dup
NM_012472.4   c.576dup
NR_073525.2   n.700dup
NR_073525.1   n.700dup
NM_001321965.1   c.216dup
NM_001321965.2   c.216dup
NM_001321964.1   c.2

rs397515424

Strand:    Allele origin:   Allele change:   Mutation type: del

NC_000008.11   g.132632794_132632795del
NC_000008.10   g.133645040_133645041del
NG_033068.1   g.47823_47824del
NM_012472.5   c.598_599del
NM_012472.6   c.598_599del
NM_012472.4   c.598_599del
NR_073525.2   n.722_723del
NR_073525.1   n.722_723del
NM_001321965.1   c.238

rs397514596

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000008.11   g.132656866C>G
NC_000008.10   g.133669112C>G
NG_033068.1   g.23752G>C
NM_012472.5   c.220G>C
NM_012472.6   c.220G>C
NM_012472.4   c.220G>C
NR_073525.2   n.344G>C
NR_073525.1   n.344G>C
NM_001321965.1   c.-454G>C
NM_001321965.2   c.-454G>C
NR_135912.1   n.10

rs200321595

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000008.11   g.132632957C>G
NC_000008.10   g.133645203C>G
NG_033068.1   g.47661G>C
NM_012472.5   c.436G>C
NM_012472.6   c.436G>C
NM_012472.4   c.436G>C
NR_073525.2   n.560G>C
NR_073525.1   n.560G>C
NM_001321965.1   c.76G>C
NM_001321965.2   c.76G>C
NM_001321964.1   c.76G

rs141945265

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000008.11   g.132632819G>A
NC_000008.11   g.132632819G>C
NC_000008.10   g.133645065G>A
NC_000008.10   g.133645065G>C
NG_033068.1   g.47799C>T
NG_033068.1   g.47799C>G
NM_012472.5   c.574C>T
NM_012472.5   c.574C>G
NM_012472.6   c.574C>T
NM_012472.6   c.574C>G
NM_01247  

Protein Summary

• Protein general information: Q86X45  
  • Name: Protein tilB homolog (Leucine rich repeat containing protein 6) (Leucine rich testis specific protein) (Testis specific leucine rich repeat protein)
  • Length: 466  
  • Mass: 54255
  • Tissue specificity: Expressed predominantly in testis and in nasal epithelial cells. {ECO
• Sequence:

  MGWITEDLIRRNAEHNDCVIFSLEELSLHQQEIERLEHIDKWCRDLKILYLQNNLIGKIENVSKLKKLEYLNLAL
  NNIEKIENLEGCEELAKLDLTVNFIGELSSIKNLQHNIHLKELFLMGNPCASFDHYREFVVATLPQLKWLDGKEI
  EPSERIKALQDYSVIEPQIREQEKDHCLKRAKLKEEAQRKHQEEDKNEDKRSNAGFDGRWYTDINATLSSLESKD
  HLQAPDTEEHNTKKLDNSEDDLEFWNKPCLFTPESRLETLRHMEKQRKKQEKLSEKKKKVKPPRTLITEDGKALN
  VNEPKIDFSLKDNEKQIILDLAVYRYMDTSLIDVDVQPTYVRVMIKGKPFQLVLPAEVKPDSSSAKRSQTTGHLV
  ICMPKVGEVITGGQRAFKSMKTTSDRSREQTNTRSKHMEKLEVDPSKHSFPDVTNIVQEKKHTPRRRPEPKIIPS
  EEDPTFEDNPEVPPLI

• Structural information:
  • Protein Domains: (123..16-)
    (/note="LRRCT-)
    (301..39-)
    (/note="CS-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00547"-)
  • Interpro: IPR007052  IPR001611  IPR032675  IPR003603  
  • Prosite: PS51203 PS51450
  • STRING: ENSP00000484634
• Other Databases: GeneCards:  LRRC6  Malacards:  LRRC6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0061512	protein localization to cilium	IEA	biological process
GO:0060287	epithelial cilium movement involved in determination of left/right asymmetry	IEA	biological process
GO:0043393	regulation of protein binding	IEA	biological process
GO:0030317	flagellated sperm motility	IEA	biological process
GO:0008584	male gonad development	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0090660	cerebrospinal fluid circulation	IEA	biological process
GO:0090651	apical cytoplasm	IEA	cellular component
GO:0036158	outer dynein arm assembly	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0003351	epithelial cilium movement involved in extracellular fluid movement	IEA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005929	cilium	IDA	cellular component
GO:0036158	outer dynein arm assembly	IMP	biological process
GO:0036159	inner dynein arm assembly	IMP	biological process
GO:0003341	cilium movement	IMP	biological process
GO:0005737	cytoplasm	ISS	cellular component
GO:0008584	male gonad development	ISS	biological process
GO:0030317	flagellated sperm motility	IMP	biological process
GO:0044458	motile cilium assembly	IMP	biological process
GO:0060287	epithelial cilium movement involved in determination of left/right asymmetry	IMP	biological process
GO:0061458	reproductive system development	IMP	biological process
GO:0005929	cilium	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0003674	molecular_function	ND	molecular function

Diseases

Associated diseases	References
Primary ciliary dyskinesia	KEGG:H00564
Primary ciliary dyskinesia	KEGG:H00564
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Primary Ciliary Dyskinesia	MIK: 29511670
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
29511670	Primary Ciliary Dyskinesia	c.183T>G/p.N61K; c.179-1G>A	Chinese	1 family	Male infertility	NGS
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R