• Gene id: 795

Gene Summary

• Gene Symbol: S100G   Gene   UCSC   Ensembl
• Aliases: CABP, CABP1, CABP9K, CALB3
• Gene name: S100 calcium binding protein G
• Alternate names: protein S100-G, calbindin 3, (vitamin D-dependent calcium-binding protein), calbindin D9K, calbindin-D9k, vitamin D-dependent calcium-binding protein, intestinal,
• Gene location: Xp22.2 (16649786: 16654673)     Exons: 3     NC_000023.11
• Gene summary(Entrez): This gene encodes calbindin D9K, a vitamin D-dependent calcium-binding protein. This cytosolic protein belongs to a family of calcium-binding proteins that includes calmodulin, parvalbumin, troponin C, and S100 protein. In the intestine, the protein is vi
• OMIM: 191042

SNPs

rs397515484

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

NC_000019.10   g.57233458A>G
NC_000019.9   g.57744826A>G
NG_012134.1   g.7450A>G|SEQ=[A/G]|GENE=AURKC

rs28606463

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

NC_000002.12   g.213929934C>T
NC_000002.11   g.214794658C>T|SEQ=[C/T]|GENE=SPAG16

rs16851495

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

NC_000002.12   g.214108287G>A
NC_000002.11   g.214973011G>A|SEQ=[G/A]|GENE=SPAG16

rs12988374

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

NC_000002.12   g.214410278C>T
NC_000002.11   g.215275002C>T
NM_024532.5   c.1859C>T
NM_024532.4   c.1859C>T
XM_011511823.3   c.1550C>T
XM_011511821.2   c.1577C>T
XM_011511819.2   c.1697C>T
XM_011511820.2   c.1673C>T
XM_017004897.1   c.1502C>T
NR_047659.1   n.2139C>T
XM_  

rs12988372

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

NC_000002.12   g.214410273C>A
NC_000002.12   g.214410273C>T
NC_000002.11   g.215274997C>A
NC_000002.11   g.215274997C>T
NM_024532.5   c.1854C>A
NM_024532.5   c.1854C>T
NM_024532.4   c.1854C>A
NM_024532.4   c.1854C>T
XM_011511823.3   c.1545C>A
XM_011511823.3   c.1545C>T
  

rs12623569

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

NC_000002.12   g.213930019A>C
NC_000002.11   g.214794743A>C
NM_024532.5   c.1274A>C
NM_024532.4   c.1274A>C
XM_011511823.3   c.965A>C
XM_011511816.3   c.1274A>C
XM_011511821.2   c.992A>C
XM_011511819.2   c.1112A>C
XM_011511815.2   c.1274A>C
XM_011511817.2   c.1274A>C
XM  

rs10167688

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

NC_000002.12   g.213489990C>A
NC_000002.11   g.214354714C>A
NM_024532.5   c.970C>A
NM_024532.4   c.970C>A
XM_011511823.3   c.661C>A
XM_011511816.3   c.970C>A
XM_011511821.2   c.688C>A
XM_011511819.2   c.808C>A
XM_011511820.2   c.970C>A
XM_011511815.2   c.970C>A
XM_01151  

Protein Summary

• Protein general information: P29377  
  • Name: Protein S100 G (Calbindin D9k) (S100 calcium binding protein G) (Vitamin D dependent calcium binding protein, intestinal) (CABP)
  • Length: 79  
  • Mass: 9016
• Sequence:

  MSTKKSPEELKRIFEKYAAKEGDPDQLSKDELKLLIQAEFPSLLKGPNTLDDLFQELDKNGDGEVSFEEFQVLVK
  KISQ

• Structural information:
  • Protein Domains: (13..4-)
    (/note="EF-hand-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (45..7-)
    (/note="EF-hand-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448"-)
  • Interpro: IPR011992  IPR018247  IPR002048  IPR034325  IPR001751   IPR013787  IPR028489  
  • Prosite: PS00018 PS50222 PS00303
  • CDD: cd00213
  • STRING: ENSP00000369547
• Other Databases: GeneCards:  S100G  Malacards:  S100G

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005509	calcium ion binding	IEA	molecular function
GO:0046914	transition metal ion binding	IEA	molecular function
GO:0005499	vitamin D binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005509	calcium ion binding	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016323	basolateral plasma membrane	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04978	Mineral absorption

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray