• Gene id: 84230

Gene Summary

• Gene Symbol: LRRC8C   Gene   UCSC   Ensembl
• Aliases: AD158, FAD158
• Gene name: leucine rich repeat containing 8 VRAC subunit C
• Alternate names: volume-regulated anion channel subunit LRRC8C, factor for adipocyte differentiation 158, hypothetical protein AD158, leucine rich repeat containing 8 family member C, leucine rich repeat containing 8C, leucine-rich repeat-containing protein 8C,
• Gene location: 1p22.2 (89615809: 89719532)     Exons: 5     NC_000001.11
• OMIM: 612889

Protein Summary

• Protein general information: Q8TDW0  
  • Name: Volume regulated anion channel subunit LRRC8C (Factor for adipocyte differentiation 158) (Leucine rich repeat containing protein 8C)
  • Length: 803  
  • Mass: 92450
  • Tissue specificity: Expressed at highest levels in skeletal muscle, and at moderate levels in heart, lung and peripheral blood leukocytes. {ECO
• Sequence:

  MIPVTEFRQFSEQQPAFRVLKPWWDVFTDYLSVAMLMIGVFGCTLQVMQDKIICLPKRVQPAQNHSSLSNVSQAV
  ASTTPLPPPKPSPANPITVEMKGLKTDLDLQQYSFINQMCYERALHWYAKYFPYLVLIHTLVFMLCSNFWFKFPG
  SSSKIEHFISILGKCFDSPWTTRALSEVSGEDSEEKDNRKNNMNRSNTIQSGPEDSLVNSQSLKSIPEKFVVDKS
  TAGALDKKEGEQAKALFEKVKKFRLHVEEGDILYAMYVRQTVLKVIKFLIIIAYNSALVSKVQFTVDCNVDIQDM
  TGYKNFSCNHTMAHLFSKLSFCYLCFVSIYGLTCLYTLYWLFYRSLREYSFEYVRQETGIDDIPDVKNDFAFMLH
  MIDQYDPLYSKRFAVFLSEVSENKLKQLNLNNEWTPDKLRQKLQTNAHNRLELPLIMLSGLPDTVFEITELQSLK
  LEIIKNVMIPATIAQLDNLQELSLHQCSVKIHSAALSFLKENLKVLSVKFDDMRELPPWMYGLRNLEELYLVGSL
  SHDISRNVTLESLRDLKSLKILSIKSNVSKIPQAVVDVSSHLQKMCIHNDGTKLVMLNNLKKMTNLTELELVHCD
  LERIPHAVFSLLSLQELDLKENNLKSIEEIVSFQHLRKLTVLKLWHNSITYIPEHIKKLTSLERLSFSHNKIEVL
  PSHLFLCNKIRYLDLSYNDIRFIPPEIGVLQSLQYFSITCNKVESLPDELYFCKKLKTLKIGKNSLSVLSPKIGN
  LLFLSYLDVKGNHFEILPPELGDCRALKRAGLVVEDALFETLPSDVREQMKTE

• Structural information:
  • Interpro: IPR001611  IPR003591  IPR026906  IPR032675  IPR021040  
  • Prosite: PS51450
  • DIP: 61362
  • STRING: ENSP00000359483
• Other Databases: GeneCards:  LRRC8C  Malacards:  LRRC8C

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0071470	cellular response to osmotic stress	IBA	biological process
GO:0034702	ion channel complex	IBA	cellular component
GO:0015734	taurine transport	IBA	biological process
GO:0005225	volume-sensitive anion channel activity	IBA	molecular function
GO:0015810	aspartate transmembrane transport	IBA	biological process
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0004722	protein serine/threonine phosphatase activity	IBA	molecular function
GO:0005886	plasma membrane	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005225	volume-sensitive anion channel activity	IMP	molecular function
GO:0034702	ion channel complex	ISS	cellular component
GO:0005225	volume-sensitive anion channel activity	ISS	contributes to
GO:0005515	protein binding	IPI	molecular function
GO:0005887	integral component of plasma membrane	IMP	cellular component
GO:0098656	anion transmembrane transport	IMP	biological process
GO:0005887	integral component of plasma membrane	ISS	cellular component
GO:0098656	anion transmembrane transport	ISS	biological process
GO:0034214	protein hexamerization	ISS	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0055085	transmembrane transport	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005225	volume-sensitive anion channel activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0034702	ion channel complex	IEA	cellular component
GO:0045444	fat cell differentiation	IEA	biological process
GO:0005225	volume-sensitive anion channel activity	IEA	molecular function
GO:0015734	taurine transport	IEA	biological process
GO:0034702	ion channel complex	IEA	cellular component
GO:0071470	cellular response to osmotic stress	IEA	biological process
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0034214	protein hexamerization	IEA	biological process
GO:0098656	anion transmembrane transport	IEA	biological process
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0015810	aspartate transmembrane transport	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0015698	inorganic anion transport	IEA	biological process
GO:0015698	inorganic anion transport	IEA	biological process
GO:0015698	inorganic anion transport	IEA	biological process
GO:0015698	inorganic anion transport	IEA	biological process
GO:0015698	inorganic anion transport	IEA	biological process
GO:0006470	protein dephosphorylation	IEA	biological process
GO:0016020	membrane	HDA	cellular component

Diseases

Associated diseases	References
Agammaglobulinemias	KEGG:H00085
Agammaglobulinemias	KEGG:H00085
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray