1. Gene
  2. S100G - S100 calcium binding protein G Gene

S100G - S100 calcium binding protein G Gene

Homo sapiens

Also known as CABP; CABP1; CALB3; CABP9K

Gene ID: 795 | Gene type: protein coding

About S100G

Cytogenetic location: Xp22.2 Genomic coordinates (GRCh38): X:16,650,158-16,654,670 (from NCBI)

This gene has 1 transcript (splice variant), 338 orthologues and 21 paralogues. Restricted expression toward duodenum (RPKM 36.4).

Summary

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 vitamin D-dependent and its expression correlates with calcium transport activity. The protein may increase Ca2+ absorption by buffering Ca2+ in the cytoplasm and increase ATP-dependent Ca2+ transport in duodenal basolateral membrane vesicles. [provided by RefSeq, Jul 2008]

S100G Products(1)

mRNA Protein Name
NM_004057.3 NP_004048.1 protein S100-G

S100G Protein Structure

S_100

S_100: S-100/ICaBP type calcium binding domain (10 - 45)

EF-hand_1

EF-hand_1: EF hand (50 - 76)

  • 0
  • 79 a.a.
Protein Preferred Names Protein Names

protein S100-G

calbindin 3, (vitamin D-dependent calcium-binding protein)

Related Diseases

Diseases Alias
Granulomatous Endometritis
Noonan Syndrome 7

NS7

Noonan Syndrome, Type 7

Spinocerebellar Ataxia 1

Spinocerebellar Ataxia Type 1

SCA1

Olivopontocerebellar Atrophy I

Opca1

Opca4

Menzel Type Opca

Schut-Haymaker Type Opca

Spinocerebellar Atrophy I

Opca I

Olivopontocerebellar Atrophy Iv

Opca Iv

Cerebelloparenchymal Disorder I

Cpd1

Olivopontocerebellar Atrophy 1

Cerebelloparenchymal Disorder 1

Olivopontocerebellar Atrophy 4

Spinocerebellar Atrophy 1

Type 1 Spinocerebellar Ataxia

Spinocerebellar Ataxia-1

Ataxia, Spinocerebellar, Type 1

Vitamin D Hydroxylation-Deficient Rickets, Type 1a

Vitamin D-Dependent Rickets, Type 1a

Vitamin D-Dependent Rickets, Type 1

VDDR1A

25-Hydroxycholecalciferol-1-Hydroxylase Deficiency

1-Alpha-Hydroxylase Deficiency

Vdd1

Pddr1a

Pddr Ia

Vitamin D-Dependent Rickets, Type I

Vitamin D-Dependent Rickets Type 1a

1-Alpha, 25-Hydroxyvitamin D3 Deficiency, Selective

Vitamin D Dependency, Type 1

Pseudovitamin D-Deficiency Rickets, Type Ia

Rickets Vitamin D-Dependent 1a

1-Alpha 25-Hydroxyvitamin D3 Deficiency Selective

Pddr

Pseudovitamin D Deficiency Rickets

Pseudovitamin D-Deficiency Rickets Type Ia

Vitamin D Dependency Type 1

Schnyder Corneal Dystrophy

Schnyder Crystalline Corneal Dystrophy

SCCD

Corneal Dystrophy, Crystalline, Of Schnyder

Corneal Dystrophy, Schnyder Type

Corneal Dystrophy Crystalline Of Schnyder

Crystalline Stromal Dystrophy

Hereditary Crystalline Stromal Dystrophy Of Schnyder

Scd

Corneal Dystrophy, Schnyder

Schnyder Crystalline Dystrophy Sine Crystals

Dystrophy, Corneal, Crystalline, Schnyder

Vitamin D-Dependent Rickets, Type 2a

Hvdrr

Generalized Resistance To 1,25-Dihydroxyvitamin D

Hypocalcemic Vitamin D-Resistant Rickets

VDDR2A

Rickets, Hereditary Vitamin D-Resistant

Vitamin D-Resistant Rickets With End-Organ Unresponsiveness To 1,25-Dihydroxycholecalciferol

Pddr Iia

Rickets-Alopecia Syndrome

Rickets, Vitamin D-Resistant, Type Iia

Vitamin D-Dependent Rickets Type 2a

Vitamin D-Dependent Rickets, Type 2

Vitamin D-Dependent Rickets, Type 2a, With Or Without Alopecia

Generalized 1,25-Dihydroxyvitamin D

Pseudovitamin D-Deficiency, Type Iia

Hereditary Vitamin D-Resistant Rickets

Vddr Ii

Vdrr Ii

Vitamin D-Dependent Rickets Type Ii

Vitamin D-Resistant Rickets Type Ii

Rickets Vitamin D-Dependent 2a

Pseudovitamin D-Deficiency Type Iia

Rickets Hereditary Vitamin D-Resistant

Type Iia Rickets

Vitamin D-Dependent Rickets Type 2a With Or Without Alopecia

Vitamin D-Dependent Rickets, Type Ii

Familial Hypophosphatemic Rickets

Hypophosphatemic Rickets, X-Linked Dominant

Vitamin D-Dependent Rickets

Vddr

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus S100G MGD MGI:104528
Rattus norvegicus S100G RGD RGD:2253
Canis familiaris S100G VGNC VGNC:49688
Bos taurus S100G VGNC VGNC:34249
Macaca mulatta S100G VGNC VGNC:77016