• Gene id: 55144

Gene Summary

• Gene Symbol: LRRC8D   Gene   UCSC   Ensembl
• Aliases: LRRC5
• Gene name: leucine rich repeat containing 8 VRAC subunit D
• Alternate names: volume-regulated anion channel subunit LRRC8D, leucine rich repeat containing 5, leucine rich repeat containing 8 family member D, leucine-rich repeat-containing protein 5, leucine-rich repeat-containing protein 8D,
• Gene location: 1p22.2 (3985462: 3976055)     Exons: 15     NC_000019.10
• OMIM: 612890

Protein Summary

• Protein general information: Q7L1W4  
  • Name: Volume regulated anion channel subunit LRRC8D (Leucine rich repeat containing protein 5) (Leucine rich repeat containing protein 8D)
  • Length: 858  
  • Mass: 98201
• Sequence:

  MFTLAEVASLNDIQPTYRILKPWWDVFMDYLAVVMLMVAIFAGTMQLTKDQVVCLPVLPSPVNSKAHTPPGNAEV
  TTNIPKMEAATNQDQDGRTTNDISFGTSAVTPDIPLRATYPRTDFALPNQEAKKEKKDPTGRKTNLDFQQYVFIN
  QMCYHLALPWYSKYFPYLALIHTIILMVSSNFWFKYPKTCSKVEHFVSILGKCFESPWTTKALSETACEDSEENK
  QRITGAQTLPKHVSTSSDEGSPSASTPMINKTGFKFSAEKPVIEVPSMTILDKKDGEQAKALFEKVRKFRAHVED
  SDLIYKLYVVQTVIKTAKFIFILCYTANFVNAISFEHVCKPKVEHLIGYEVFECTHNMAYMLKKLLISYISIICV
  YGFICLYTLFWLFRIPLKEYSFEKVREESSFSDIPDVKNDFAFLLHMVDQYDQLYSKRFGVFLSEVSENKLREIS
  LNHEWTFEKLRQHISRNAQDKQELHLFMLSGVPDAVFDLTDLDVLKLELIPEAKIPAKISQMTNLQELHLCHCPA
  KVEQTAFSFLRDHLRCLHVKFTDVAEIPAWVYLLKNLRELYLIGNLNSENNKMIGLESLRELRHLKILHVKSNLT
  KVPSNITDVAPHLTKLVIHNDGTKLLVLNSLKKMMNVAELELQNCELERIPHAIFSLSNLQELDLKSNNIRTIEE
  IISFQHLKRLTCLKLWHNKIVTIPPSITHVKNLESLYFSNNKLESLPVAVFSLQKLRCLDVSYNNISMIPIEIGL
  LQNLQHLHITGNKVDILPKQLFKCIKLRTLNLGQNCITSLPEKVGQLSQLTQLELKGNCLDRLPAQLGQCRMLKK
  SGLVVEDHLFDTLPLEVKEALNQDINIPFANGI

• Structural information:
  • Interpro: IPR001611  IPR003591  IPR032675  IPR021040  
  • Prosite: PS51450
  • DIP: 31280
  • STRING: ENSP00000338887
• Other Databases: GeneCards:  LRRC8D  Malacards:  LRRC8D

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:0015734	taurine transport	IMP	biological process
GO:0034702	ion channel complex	IMP	cellular component
GO:0071470	cellular response to osmotic stress	IMP	biological process
GO:0005225	volume-sensitive anion channel activity	IMP	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	IMP	cellular component
GO:0015810	aspartate transmembrane transport	IMP	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0055085	transmembrane transport	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
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: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			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
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray