Solute Carrier Family 22 (Organic Cation Transporter), Member 5

Alternative Names

  • SLC22A5
  • Organic Cation Transporter 2
  • OCTN2
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OMIM Number

603377

NCBI Gene ID

6584

Uniprot ID

O76082

Length

25911 bases

No. of Exons

11

No. of isoforms

3

Protein Name

Solute carrier family 22 member 5

Molecular Mass

62752Da

Amino Acid Count

557

Genomic Location

chr5:132369704-132395614

Gene Map Locus
5q31.1

Description

SLC22A5 gene encodes a plasma integral membrane protein called solute carrier family 22 member 5 or OCTN2 mainly expressed in kidney, skeletal muscles, and heart. OCTN2 is a plasma integral membrane protein involved in cellular carnitine uptake and transport of organic cations. Mutations in the SLC22A5 gene is associated with systemic primary carnitine deficiency and visceral steatosis.

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001308122.1:c.64_66TTC[1]LebanonNC_000005.10:g.132370036_132370038TTC[1]PathogenicLikely PathogenicCarnitine Deficiency, Systemic PrimaryNG_008982.2:g.5333_5335TTC[1]; NM_001308122.1:c.64_66TTC[1]; NP_003051.1:p.Phe23del37776744425353
NM_003060.3:c.248G>TUnited Arab EmiratesNC_000005.10:g.132370220G>TLikely Pathogenic, Pathogenic, Uncertain SignificanceLikely PathogenicCarnitine Deficiency, Systemic PrimaryNG_008982.1:g.5512G>T; NM_003060.3:c.248G>T; NP_003051.1:p.Arg83Leu7255272625361
NM_003060.3:c.538C>TLebanonNC_000005.10:g.132384187C>TUncertain SignificanceCarnitine Deficiency, Systemic PrimaryNG_008982.1:g.19479C>T; NM_003060.3:c.538C>T; NP_003051.1:p.Gln180Ter1437174685
NM_003060.3:c.760C>TLebanon; Saudi ArabiaNC_000005.10:g.132385435C>TPathogenicPathogenicCarnitine Deficiency, Systemic PrimaryNG_008982.2:g.20732C>T; NM_003060.3:c.760C>T; NP_003051.1:p.Arg254Ter1219088936426
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