• Gene id: 819

Gene Summary

• Gene Symbol: CAMLG   Gene   UCSC   Ensembl
• Aliases: CAML, GET2
• Gene name: calcium modulating ligand
• Alternate names: calcium signal-modulating cyclophilin ligand, calcium-modulating cyclophilin ligand, cyclophilin B-binding protein,
• Gene location: 5q31.1 (134738547: 134752156)     Exons: 4     NC_000005.10
• Gene summary(Entrez): The immunosuppressant drug cyclosporin A blocks a calcium-dependent signal from the T-cell receptor (TCR) that normally leads to T-cell activation. When bound to cyclophilin B, cyclosporin A binds and inactivates the key signaling intermediate calcineurin
• OMIM: 601118

SNPs

rs4938723

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

NC_000011.10   g.111511840T>C
NC_000011.9   g.111382565T>C|SEQ=[T/C]|GENE=BTG4
MIR34B   407041
MIR34C   407042
LOC728196   728196

Protein Summary

• Protein general information: P49069  
  • Name: Calcium signal modulating cyclophilin ligand (CAML)
  • Length: 296  
  • Mass: 32953
  • Tissue specificity: Ubiquitous. Highest levels in brain, testis and ovary.
• Sequence:

  MESMAVATDGGERPGVPAGSGLSASQRRAELRRRKLLMNSEQRINRIMGFHRPGSGAEEESQTKSKQQDSDKLNS
  LSVPSVSKRVVLGDSVSTGTTDQQGGVAEVKGTQLGDKLDSFIKPPECSSDVNLELRQRNRGDLTADSVQRGSRH
  GLEQYLSRFEEAMKLRKQLISEKPSQEDGNTTEEFDSFRIFRLVGCALLALGVRAFVCKYLSIFAPFLTLQLAYM
  GLYKYFPKSEKKIKTTVLTAALLLSGIPAEVINRSMDTYSKMGEVFTDLCVYFFTFIFCHELLDYWGSEVP

• Structural information:
  • Interpro: IPR016719  
  • STRING: ENSP00000297156
• Other Databases: GeneCards:  CAMLG  Malacards:  CAMLG

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016032	viral process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006952	defense response	TAS	biological process
GO:0007165	signal transduction	TAS	biological process
GO:0005783	endoplasmic reticulum	IDA	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: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: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:0001881	receptor recycling	IEA	biological process
GO:0050839	cell adhesion molecule binding	IEA	molecular function
GO:0007173	epidermal growth factor receptor signaling pathway	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0031397	negative regulation of protein ubiquitination	IMP	biological process
GO:0032435	negative regulation of proteasomal ubiquitin-dependent protein catabolic process	IMP	biological process
GO:0050821	protein stabilization	IMP	biological process
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function
GO:0016020	membrane	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
myeloid leukemia	PMID:12031912
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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