• Gene id: 22802

Gene Summary

• Gene Symbol: CLCA4   Gene   UCSC   Ensembl
• Aliases: CaCC, CaCC2
• Gene name: chloride channel accessory 4
• Alternate names: calcium-activated chloride channel regulator 4, caCC-2, calcium-activated chloride channel family member 4, calcium-activated chloride channel protein 2, chloride channel regulator 4, chloride channel, calcium activated, family member 4, hCLCA4, hCaCC-2,
• Gene location: 1p22.3 (86547075: 86580757)     Exons: 15     NC_000001.11
• Gene summary(Entrez): The protein encoded by this gene belongs to the calcium sensitive chloride conductance protein family. To date, all members of this gene family map to the same site on chromosome 1p31-p22 and share high degrees of homology in size, sequence and predicted
• OMIM: 616857

SNPs

rs2231599

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

NC_000001.11   g.86574546A>G
NC_000001.10   g.87040229A>G
NM_012128.4   c.1474A>G
NM_012128.3   c.1474A>G
XM_011541015.2   c.1321A>G
NR_024602.1   n.1409A>G
NR_024602.2   n.1407A>G
NP_036260.2   p.Ser492Gly
XP_011539317.1   p.Ser441Gly|SEQ=[A/G]|GENE=CLCA4
CLCA4  

rs79822589

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

NC_000001.11   g.86565961T>C
NC_000001.10   g.87031644T>C
NM_012128.4   c.895T>C
NM_012128.3   c.895T>C
XM_011541015.2   c.742T>C
NR_024602.1   n.830T>C
NR_024602.2   n.828T>C|SEQ=[T/C]|GENE=CLCA4

rs763334876

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

NC_000001.11   g.86567425G>A
NC_000001.10   g.87033108G>A
NM_012128.4   c.956G>A
NM_012128.3   c.956G>A
XM_011541015.2   c.803G>A
NR_024602.1   n.891G>A
NR_024602.2   n.889G>A
NP_036260.2   p.Gly319Asp
XP_011539317.1   p.Gly268Asp|SEQ=[G/A]|GENE=CLCA4

rs759981524

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

NC_000001.11   g.86579956A>C
NC_000001.11   g.86579956A>G
NC_000001.11   g.86579956A>T
NC_000001.10   g.87045639A>C
NC_000001.10   g.87045639A>G
NC_000001.10   g.87045639A>T
NM_012128.4   c.2371A>C
NM_012128.4   c.2371A>G
NM_012128.4   c.2371A>T
NM_012128.3   c.2371A>C
  

rs757773924

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

NC_000001.11   g.86578055C>G
NC_000001.11   g.86578055C>T
NC_000001.10   g.87043738C>G
NC_000001.10   g.87043738C>T
NM_012128.4   c.2105C>G
NM_012128.4   c.2105C>T
NM_012128.3   c.2105C>G
NM_012128.3   c.2105C>T
XM_011541015.2   c.1952C>G
XM_011541015.2   c.1952C>T
NR_0  

rs190628533

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

NC_000001.11   g.86560300C>T
NC_000001.10   g.87025983C>T
NM_012128.4   c.390C>T
NM_012128.3   c.390C>T
XM_011541015.2   c.237C>T
NR_024602.1   n.434C>T
NR_024602.2   n.432C>T|SEQ=[C/T]|GENE=CLCA4

Protein Summary

• Protein general information: Q14CN2  
  • Name: Calcium activated chloride channel regulator 4 (EC 3.4. . ) (Calcium activated chloride channel family member 4) (hCLCA4) (Calcium activated chloride channel protein 2) (CaCC 2) (hCaCC 2) (Chloride channel accessory 4) [Cleaved into: Calcium activated chl
  • Length: 919  
  • Mass: 101,283
• Sequence:

  MGLFRGFVFLLVLCLLHQSNTSFIKLNNNGFEDIVIVIDPSVPEDEKIIEQIEDMVTTASTYLFEATEKRFFFKN
  VSILIPENWKENPQYKRPKHENHKHADVIVAPPTLPGRDEPYTKQFTECGEKGEYIHFTPDLLLGKKQNEYGPPG
  KLFVHEWAHLRWGVFDEYNEDQPFYRAKSKKIEATRCSAGISGRNRVYKCQGGSCLSRACRIDSTTKLYGKDCQF
  FPDKVQTEKASIMFMQSIDSVVEFCNEKTHNQEAPSLQNIKCNFRSTWEVISNSEDFKNTIPMVTPPPPPVFSLL
  KISQRIVCLVLDKSGSMGGKDRLNRMNQAAKHFLLQTVENGSWVGMVHFDSTATIVNKLIQIKSSDERNTLMAGL
  PTYPLGGTSICSGIKYAFQVIGELHSQLDGSEVLLLTDGEDNTASSCIDEVKQSGAIVHFIALGRAADEAVIEMS
  KITGGSHFYVSDEAQNNGLIDAFGALTSGNTDLSQKSLQLESKGLTLNSNAWMNDTVIIDSTVGKDTFFLITWNS
  LPPSISLWDPSGTIMENFTVDATSKMAYLSIPGTAKVGTWAYNLQAKANPETLTITVTSRAANSSVPPITVNAKM
  NKDVNSFPSPMIVYAEILQGYVPVLGANVTAFIESQNGHTEVLELLDNGAGADSFKNDGVYSRYFTAYTENGRYS
  LKVRAHGGANTARLKLRPPLNRAAYIPGWVVNGEIEANPPRPEIDEDTQTTLEDFSRTASGGAFVVSQVPSLPLP
  DQYPPSQITDLDATVHEDKIILTWTAPGDNFDVGKVQRYIIRISASILDLRDSFDDALQVNTTDLSPKEANSKES
  FAFKPENISEENATHIFIAIKSIDKSNLTSKVSNIAQVTLFIPQANPDDIDPTPTPTPTPTPDKSHNSGVNISTL
  VLSVIGSVVIVNFILSTTI

• Structural information:
  • Protein Domains: VWFA. (306-476)
  • Interpro: IPR004727  IPR013642  IPR002035  IPR036465  
  • Prosite: PS50234
  • STRING: ENSP00000359594
• Other Databases: GeneCards:  CLCA4  Malacards:  CLCA4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004222	metalloendopeptidase activity	TAS	molecular function
GO:0005229	intracellular calcium activated chloride channel activity	IEA	molecular function
GO:0005254	chloride channel activity	TAS	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0006508	proteolysis	IEA	biological process
GO:0006810	transport	TAS	biological process
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0034220	ion transmembrane transport	TAS	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0070062	extracellular exosome	IDA	cellular component
GO:1902476	chloride transmembrane transport	IEA	biological process
GO:0004222	metalloendopeptidase activity	TAS	molecular function
GO:0005229	intracellular calcium activated chloride channel activity	IEA	molecular function
GO:0005254	chloride channel activity	TAS	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0006508	proteolysis	IEA	biological process
GO:0006810	transport	IEA	biological process
GO:0006810	transport	TAS	biological process
GO:0006821	chloride transport	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0008237	metallopeptidase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0034220	ion transmembrane transport	TAS	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0070062	extracellular exosome	IDA	cellular component
GO:1902476	chloride transmembrane transport	IEA	biological process
GO:0004222	metalloendopeptidase activity	TAS	molecular function
GO:0005254	chloride channel activity	TAS	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0006810	transport	TAS	biological process
GO:0034220	ion transmembrane transport	TAS	biological process
GO:0070062	extracellular exosome	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04924	Renin secretion
hsa04972	Pancreatic secretion

Diseases

Associated diseases	References
Spermatogenesis defects	MIK: 23579007
Spermatogenesis defects	MIK: 23579007
Spermatogenesis defects	MIK: 23579007
Male factor infertility	MIK: 23579007

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
23579007	Spermatogenesis defects, male factor infertility			39 infertile men with idiopathic infertility, oligoasthenoteratozoospermia to azoospermia	Male infertility