SLC24A4 - solute carrier family 24 member 4 Gene

Also Known as AI2A5; NCKX4; SHEP6; SLC24A2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 123041

About SLC24A4

Cytogenetic location: 14q32.12 Genomic coordinates (GRCh38): 14:92,322,581-92,501,481 (from NCBI)

This gene has 9 transcripts (splice variants), 228 orthologues, 4 paralogues and is associated with 5 phenotypes. Low expression observed in reference dataset.

Summary

This gene encodes a member of the potassium-dependent sodium/calcium exchanger protein family. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jul 2010]

SLC24A4 Products (4)

mRNA Protein Name
NM_001378620.1 NP_001365549.1 sodium/potassium/calcium exchanger 4 isoform 1 precursor
NM_153646.4 NP_705932.2 sodium/potassium/calcium exchanger 4 isoform 1 precursor
NM_153647.4 NP_705933.2 sodium/potassium/calcium exchanger 4 isoform 2
NM_153648.4 NP_705934.1 sodium/potassium/calcium exchanger 4 isoform 3

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables calcium, potassium:sodium antiporter activity IDA
IDA: Inferred from direct assay
26631410 GOA
Biological Process GO Annotation Evidence References Source
involved in calcium ion transmembrane transport IDA
IDA: Inferred from direct assay
26631410 GOA
acts upstream of or within intracellular calcium ion homeostasis IDA
IDA: Inferred from direct assay
26631410 GOA
involved in potassium ion transmembrane transport IDA
IDA: Inferred from direct assay
26631410 GOA
involved in sodium ion transmembrane transport IDA
IDA: Inferred from direct assay
26631410 GOA
Cellular Component GO Annotation Evidence References Source
located in plasma membrane IDA
IDA: Inferred from direct assay
26631410 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SLC24A4 Protein Structure

Na_Ca_ex

Na_Ca_ex: Sodium/calcium exchanger protein (114 - 244)

Na_Ca_ex

Na_Ca_ex: Sodium/calcium exchanger protein (462 - 601)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 622 a.a.
Protein Preferred Names Protein Names

sodium/potassium/calcium exchanger 4

  • Na(+)/K(+)/Ca(2+)-exchange protein 4

Related Diseases

Diseases Alias
Amelogenesis Imperfecta, Hypomaturation Type, Iia5

  • Amelogenesis Imperfecta Hypomaturation Type 2a5

  • AI2A5

  • Amelogenesis Imperfecta, Type Iia5

  • Amelogenesis Imperfecta Hypomaturation Type Iia5

  • Amelogenesis Imperfecta Type Iia5

  • Amelogenesis Imperfecta, Hypomaturation Type, 2a5
Skin/Hair/Eye Pigmentation, Variation In, 6

  • Skin/Hair/Eye Pigmentation 6, Blond/Brown Hair

  • SHEP6

  • Pigmentation, Skin/Hair/Eye, Variation In, Type 6
Amelogenesis Imperfecta

  • Ai

  • Congenital Enamel Hypoplasia

  • Al - [Amelogenesis Imperfecta]
Amelogenesis Imperfecta, Type Iiia

  • Ai3

  • Adhcai

  • Amelogenesis Imperfecta Type 3

  • AI3A

  • Amelogenesis Imperfecta, Type Iii

  • Amelogenesis Imperfecta, Hypocalcification Type, Autosomal Dominant

  • Amelogenesis Imperfecta Type 3a

  • Amelogenesis Imperfecta Hypomineralization Type

  • Amelogenesis Imperfecta Type Iii

  • Hypocalcified Amelogenesis Imperfecta

  • Amelogenesis Imperfecta, Type 3

  • Amelogenesis Imperfecta, Hypomineralization Type

  • Autosomal Dominant Amelogenesis Imperfecta Hypocalcification Type

  • Amelogenesis Imperfecta 3a

  • Amelogenesis Imperfecta Hypocalcification Type Autosomal Dominant
Amelogenesis Imperfecta Hypomaturation Type

  • Aih

  • Hypomaturation Amelogenesis Imperfecta

  • Amelogenesis Imperfecta Type 2
Oculocutaneous Albinism

  • Albinism, Oculocutaneous

  • Oca

  • Albinism Oculocutaneous

  • Oca - [Oculocutaneous Albinism]
Albinism, Oculocutaneous, Type Ii

  • OCA2

  • Oculocutaneous Albinism Type 2

  • Oculocutaneous Albinism Type Ii

  • Albinoidism

  • Tyrosinase-Positive Oculocutaneous Albinism

  • Brown Oculocutaneous Albinism

  • Oculocutaneous Albinism, Tyrosinase-Positive

  • Albinism Ii

  • Albinism, Brown Oculocutaneous

  • Oculocutaneous Albinism, Type Ii, Modifier Of

  • Oculocutaneous Albinism, Type Ii

  • Albinism, Oculocutaneous, Type Ii, Modifier Of

  • Albinism 2

  • Albinism, Oculocutaneous, Type 2

  • Oculocutaneous Albinism Tyrosinase Positive

  • Oculocutaneous Albinism, Tyrosinase Positive

  • Albinism, Oculocutaneous, 2

  • Boca

  • Oca-2

  • Oculocutaneous Albinism Tyrosinase-Positive
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

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS13087 SLC24A4 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus SLC24A4 RGD RGD:1305926
Felis catus SLC24A4 VGNC VGNC:65251
Macaca mulatta SLC24A4 VGNC VGNC:77427
Mus musculus SLC24A4 MGD MGI:2447362
Bos taurus SLC24A4 VGNC VGNC:34739
Canis familiaris SLC24A4 VGNC VGNC:46288
Others SLC24A4 NCBI