1. Gene
  2. SLC17A9 - solute carrier family 17 member 9 Gene

SLC17A9 - solute carrier family 17 member 9 Gene

Homo sapiens

Also known as VNUT; POROK8; C20orf59

Gene ID: 63910 | Gene type: protein coding

About SLC17A9

Cytogenetic location: 20q13.33 Genomic coordinates (GRCh38): 20:62,952,709-62,969,585 (from NCBI)

This gene has 7 transcripts (splice variants), 259 orthologues, 12 paralogues and is associated with 2 phenotypes. Broad expression in stomach (RPKM 12.3), bone marrow (RPKM 8.3) and 20 other tissues.

Summary

This gene encodes a member of a family of transmembrane proteins that are involved in the transport of small molecules. The encoded protein participates in the vesicular uptake, storage, and secretion of adenoside triphosphate (ATP) and other nucleotides. A mutation in this gene was found in individuals with autosomal dominant disseminated superficial actinic porokeratosis-8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

SLC17A9 Products(2)

mRNA Protein Name
NM_001302643.2 NP_001289572.2 solute carrier family 17 member 9 isoform 2
NM_022082.4 NP_071365.4 solute carrier family 17 member 9 isoform 1

SLC17A9 Protein Structure

MFS_1

MFS_1: Major Facilitator Superfamily (30 - 386)

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  • 436 a.a.
Protein Preferred Names Protein Names

solute carrier family 17 member 9

solute carrier family 17 (vesicular nucleotide transporter), member 9

Related Diseases

Diseases Alias
Porokeratosis 8, Disseminated Superficial Actinic Type

POROK8

Porokeratosis, Type 8, Disseminated Superficial Actinic Type

Porokeratosis

Disseminated Superficial Actinic Porokeratosis

Dsap

Porokeratosis Of Mibelli

Porokeratosis, Disseminated Superficial Actinic

Porokeratosis, Disseminated Superficial Actinic, 1

Punctate Porokeratosis

Porokeratosis, Punctate

Keratoderma, Palmoplantar, Punctate Type Ii

Linear Porokeratosis

Congenital Facial Linear Porokeratosis

Porokeratosis, Linear

Deafness, Autosomal Dominant 67

DFNA67

Autosomal Dominant Nonsyndromic Deafness 67

Autosomal Dominant Deafness 67

Deafness, Autosomal Dominant, 67

Deafness, Autosomal Dominant, Type 67

Atrophoderma Vermiculata

Atrophoderma Vermiculatum

Folliculitis Ulerythematosa Reticulata

Atrophodermia Vermiculata

Honeycomb Atrophy

Atrophodermia Reticulata Symmetrica Faciei

AVA

Atrophodermia Reticulata

Folliculitis Ulerythematosa

Folliculitis Ulerythematosa Reticulate

Burnett Schwartz Berberian Syndrome

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
Felis catus SLC17A9 VGNC VGNC:65225
Mus musculus SLC17A9 MGD MGI:1919107
Rattus norvegicus SLC17A9 RGD RGD:1311940
Bos taurus SLC17A9 VGNC VGNC:34704
Macaca mulatta SLC17A9 VGNC VGNC:77492
Canis familiaris SLC17A9 VGNC VGNC:46254