SLC12A9 - solute carrier family 12 member 9 Gene

Also Known as CCC6; CIP1; WO3.3; hCCC6

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 56996

About SLC12A9

Cytogenetic location: 7q22.1 Genomic coordinates (GRCh38): 7:100,826,869-100,867,012 (from NCBI)

This gene has 15 transcripts (splice variants), 188 orthologues and 8 paralogues. Ubiquitous expression in placenta (RPKM 13.3), spleen (RPKM 11.5) and 25 other tissues.

Summary

Predicted to enable potassium:chloride symporter activity. Predicted to be involved in cell volume homeostasis; inorganic ion homeostasis; and inorganic ion transmembrane transport. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022]

SLC12A9 Products (5)

mRNA Protein Name
NM_001267812.2 NP_001254741.1 solute carrier family 12 member 9 isoform 2
NM_001267814.2 NP_001254743.1 solute carrier family 12 member 9 isoform 3
NM_001363493.2 NP_001350422.1 solute carrier family 12 member 9 isoform 1
NM_001363494.1 NP_001350423.1 solute carrier family 12 member 9 isoform 4
NM_020246.4 NP_064631.2 solute carrier family 12 member 9 isoform 1

SLC12A9 Protein Structure

AA_permease

AA_permease: Amino acid permease (42 - 535)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 914 a.a.
Protein Preferred Names Protein Names

solute carrier family 12 member 9

  • CCC-interacting protein 1

Related Diseases

Diseases Alias
Capillary Malformation-Arteriovenous Malformation 2
  • CMAVM2

  • Vein Of Galen Aneurysmal Malformation

  • Vein Of Galen Arteriovenous Malformations

  • Capillary Malformation-Arteriovenous Malformation, Type 2

Deafness, Autosomal Recessive 103
  • DFNB103

  • Autosomal Recessive Nonsyndromic Deafness 103

  • Autosomal Recessive Deafness 103

  • Deafness, Autosomal Recessive, 103

  • Deafness, Autosomal Recessive, Type 103

Thiamine-Responsive Megaloblastic Anemia Syndrome
  • TRMA

  • Rogers Syndrome

  • Thiamine-Responsive Myelodysplasia

  • Thiamine-Responsive Anemia Syndrome

  • Thiamine Metabolism Dysfunction Syndrome 1

  • Thmd1

  • Megaloblastic Anemia, Thiamine-Responsive, With Diabetes Mellitus And Sensorineural Deafness

  • Thiamine-Responsive Megaloblastic Anemia With Diabetes Mellitus And Sensorineural Deafness

  • Thiamine Responsive Megaloblastic Anemia Syndrome

  • Megaloblastic Anemia Thiamine-Responsive With Diabetes Mellitus And Sensorineural Deafness

  • Thiamine-Responsive Megaloblastic Anemia

  • Thiamine-Responsive Anaemia Syndrome

  • Thiamine-Responsive Megaloblastic Anaemia Syndrome

  • Thiamine-Responsive Megaloblastic Anaemia With Diabetes Mellitus And Sensorineural Deafness

  • Thiamine-Responsive Megaloblastic Anemia With Diabetes Mellitus And Sensorineural Hearing Loss

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
Bos taurus SLC12A9 VGNC VGNC:34672
Rattus norvegicus SLC12A9 RGD RGD:620747
Mus musculus SLC12A9 MGD MGI:1933532
Canis familiaris SLC12A9 VGNC VGNC:46226
Macaca mulatta SLC12A9 VGNC VGNC:77500
Felis catus SLC12A9 VGNC VGNC:65195
Others SLC12A9 NCBI