SLC24A4 - solute carrier family 24 member 4 Gene

Homo sapiens

Also known as AI2A5; NCKX4; SHEP6; SLC24A2

Gene ID: 123041 | Gene type: protein coding

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

SLC24A4 Protein Structure

Na_Ca_ex

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13087	SLC24A4 Human Pre-designed siRNA Set A		/	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

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