SLC12A9 - solute carrier family 12 member 9 Gene

Homo sapiens

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

Gene ID: 56996 | Gene type: protein coding

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

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13004	SLC12A9 Human Pre-designed siRNA Set A		/	Unkown

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

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