SLC39A14 - solute carrier family 39 member 14 Gene

Homo sapiens

Also known as HCIN; NET34; ZIP14; cig19; HMNDYT2; LZT-Hs4

Gene ID: 23516 | Gene type: protein coding

About SLC39A14

Cytogenetic location: 8p21.3 Genomic coordinates (GRCh38): 8:22,367,278-22,434,129 (from NCBI)

This gene has 12 transcripts (splice variants), 203 orthologues, 6 paralogues and is associated with 3 phenotypes. Broad expression in liver (RPKM 83.2), duodenum (RPKM 51.4) and 20 other tissues.

Summary

This gene encodes a member of the the SLC39A family of divalent metal transporters that mediates the cellular uptake of manganese, zinc, iron, and cadmium. The encoded protein contains eight transmembrane domains, a histidine-rich motif, and a metalloprotease motif, and is expressed on the plasma membrane and the endocytic vesicle membrane. It is an important transporter of nontransferrin-bound iron and a critical regulator of manganese homeostasis. Naturally occurring mutations in this gene are associated with neurodegeneration with brain iron accumulation and early-onset parkinsonism-dystonia with hypermanganesemia. [provided by RefSeq, May 2017]

SLC39A14 Products(10)

mRNA	Protein	Name
NM_001128431.4	NP_001121903.1	metal cation symporter ZIP14 isoform a precursor
NM_001135153.3	NP_001128625.1	metal cation symporter ZIP14 isoform a precursor
NM_001135154.3	NP_001128626.1	metal cation symporter ZIP14 isoform c precursor
NM_001351655.2	NP_001338584.1	metal cation symporter ZIP14 isoform a precursor
NM_001351656.2	NP_001338585.1	metal cation symporter ZIP14 isoform a precursor
NM_001351657.2	NP_001338586.1	metal cation symporter ZIP14 isoform d
NM_001351658.2	NP_001338587.1	metal cation symporter ZIP14 isoform d
NM_001351659.2	NP_001338588.1	metal cation symporter ZIP14 isoform d
NM_001351660.2	NP_001338589.1	metal cation symporter ZIP14 isoform a precursor
NM_015359.6	NP_056174.2	metal cation symporter ZIP14 isoform b precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables manganese ion transmembrane transporter activity	IDA IDA: Inferred from direct assay	27231142	GOA
enables manganese ion transmembrane transporter activity	IMP IMP: Inferred from mutant phenotype	31028174	GOA
enables monoatomic cation:bicarbonate symporter activity	IDA IDA: Inferred from direct assay	31699897	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA
enables zinc ion transmembrane transporter activity	IDA IDA: Inferred from direct assay	15642354	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in import across plasma membrane	IMP IMP: Inferred from mutant phenotype	31028174	GOA
involved in intracellular zinc ion homeostasis	IDA IDA: Inferred from direct assay	15642354	GOA
involved in iron import into cell	IMP IMP: Inferred from mutant phenotype	20682781	GOA
involved in iron ion transmembrane transport	IMP IMP: Inferred from mutant phenotype	20682781	GOA
involved in manganese ion transmembrane transport	IMP IMP: Inferred from mutant phenotype	31028174	GOA
involved in zinc ion import across plasma membrane	IDA IDA: Inferred from direct assay	15642354	GOA
involved in zinc ion transmembrane transport	IDA IDA: Inferred from direct assay	21917916	GOA
involved in zinc ion transmembrane transport	IMP IMP: Inferred from mutant phenotype	15642354	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in apical plasma membrane	IDA IDA: Inferred from direct assay	31699897	GOA
located in basolateral plasma membrane	IDA IDA: Inferred from direct assay	31028174	GOA
located in early endosome membrane	IDA IDA: Inferred from direct assay	20682781	GOA
located in late endosome membrane	IDA IDA: Inferred from direct assay	27703010	GOA
located in lysosomal membrane	IDA IDA: Inferred from direct assay	20682781	GOA
located in membrane	IDA IDA: Inferred from direct assay	21917916	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	15642354	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

SLC39A14 Protein Structure

Zip

0
100
200
300
400
492 a.a.

Protein Preferred Names

Protein Names

metal cation symporter ZIP14

LIV-1 subfamily of ZIP zinc transporter 4

Related Diseases

Diseases

Alias

Hypermanganesemia With Dystonia 2

HMNDYT2	Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Hypermanganesemia With Dystonia, Type 2

Hyperostosis Cranialis Interna

HCIN	Hyperostosis Cranalis Interna

Hypermanganesemia With Dystonia

Familial Manganese-Induced Neurotoxicity

Hmndyt

Parkinsonism

Parkinsonism-Plus	Idiopathic Parkinsonism
Primary Parkinsonism	Paralysis Agitans Syndrome
Parkinsonian Syndrome	Trembling Paralysis
Paralysis Agitans	Shaking Palsy
Shaking Paralysis

Hyperostosis

Hypertrophy Of Bone	Bone Hypertrophy
Bone Thickening	Periosteum Thickening

Dystonia

Dystonic Disease	Dystonic Disorder
Dystonia Disorders	Neuroleptic Dyskinesia

Hypermanganesemia With Dystonia 1

Hypermanganesemia With Dystonia, Polycythemia, And Cirrhosis	HMNDYT1
Hmdpc	Hypermanganesemia With Dystonia Polycythemia And Cirrhosis
Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, Chronic Liver Disease	Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome

Osteoblastoma

Neurodegeneration With Brain Iron Accumulation

Nbia	Neurodegeneration With Brain Iron Accumulation Disorders
Neurodegeneration, With Brain Iron Accumulation

Ehlers-Danlos Syndrome

Eds	Cutis Hyperelastica
Elastic Skin	Ehlers-Danlos Syndromes
Ed Syndrome	Ehlers Danlos Syndrome
Ehlers Danlos Disease	Eds - [Ehlers-Danlos Syndrome]

Acrodermatitis Enteropathica, Zinc-Deficiency Type

Acrodermatitis Enteropathica	AEZ
Enteropathica	Brandt Syndrome
Ae	Acrodermatitis Enteropathica Zinc Deficiency Type
Danbolt-Cross Syndrome	Acrodermatitis Enteropathica, Zinc Deficiency Type
Inherited Zinc Deficiency	Acrodermatitis Enteropathica, Zinc Deficiency
Danbolt-Closs Syndrome	Primary Zinc Malabsorption Syndrome

Hemochromatosis, Type 1

Hemochromatosis	Hemochromatosis Type 1
Hereditary Hemochromatosis	Hh
HFE1	Hfe Hemochromatosis, Modifier Of
Symptomatic Form Of Classic Hemochromatosis	Symptomatic Form Of Hemochromatosis Type 1
Symptomatic Form Of Hfe-Related Hereditary Hemochromatosis	Haemochromatosis
Iron Storage Disorder	Bronze Diabetes
Hereditary Haemochromatosis	Hlah
Hfe	Hemochromatosis, Hereditary
Diabetes Bronze	Classic Hemochromatosis
Hfe-Associated Hereditary Hemochromatosis	Hemochromatosis Classic
Bronzed Cirrhosis	Familial Hemochromatosis
Genetic Hemochromatosis	Hc
Pigmentary Cirrhosis	Primary Hemochromatosis
Troisier-Hanot-Chauffard Syndrome	Von Recklenhausen-Applebaum Disease
Hemochromatosis 1	Primary Hereditary Hemochromatosis
Bronze Cirrhosis

Dystonia 12

DYT12	Rdp
Generalized Dystonia	Dystonia-12
Rapid-Onset Dystonia-Parkinsonism	Familial Dystonia
Dystonia Musculorum Deformans	Dystonic Disorders
Idiopathic Familial Dystonia	Dystonia-Parkinsonism, Rapid-Onset
Fragments Of Torsion Dystonia	Dyt-Atp1a3
Rapid-Onset Dystonia Parkinsonism	Rodp
Dystonia, Type 12	Dystonia 3, Torsion, X-Linked
Idiopathic Non-Familial Dystonia	Symptomatic Torsion Dystonia
Dystonia Disorders

Atransferrinemia

Familial Hypotransferrinemia	Congenital Atransferrinemia
Hypotransferrinemia, Familial	Congenital Hypotransferrinemia
ATRAF

Congenital Disorder Of Glycosylation, Type Iin

CDG2N	Slc39a8-Cdg
Cdg Iin	Congenital Disorder Of Glycosylation Type Iin
Cdgiin	Carbohydrate Deficient Glycoprotein Syndrome Type Iin
Cdg Syndrome Type Iin	Congenital Disorder Of Glycosylation Type 2n
Cdg-Iin	Cdgiidn
Slc39a8 Deficiency	Congenital Disorder Of Glycosylation 2n
Glycosylation, Congenital Disorder Of, Type Iin

Metal Metabolism Disorder

Metal Metabolism, Inborn Errors

Inborn Metal Metabolism Disorder

Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3

Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like	Scd-Eds
EDSSPD3	Ehlers-Danlos Syndrome Spondylodysplastic Type 3
Ehlers-Danlos Syndrome, Spondylocheirodysplastic Type	Slc39a13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Slc39a13-Related Speds	Slc39a13-Related Spondylodysplastic Eds
Spondylocheirodysplastic Ehlers-Danlos Syndrome	Speds-Slc39a13
Ehlers-Danlos Syndrome-Like Spondylocheirodysplasia	Ehlers-Danlos Syndrome, Spondylodysplastic, Type 3

Hemochromatosis Type 2

Juvenile Hemochromatosis	Juvenile Hereditary Hemochromatosis
Hfe2	Jhh
Hemochromatosis Juvenile	Iron Overload Disease Juvenile
Hemochromatosis, Juvenile	Hemochromatosis, Type 2
Hemochromatosis	Hemochromatosis, Type 1

Deficiency Anemia

Anemia	Deficiency Anemias
Anaemia

Scoliosis

Aceruloplasminemia

Cerebellar Ataxia	Hypoceruloplasminemia
Hemosiderosis, Systemic, Due To Aceruloplasminemia	Familial Apoceruloplasmin Deficiency
Hereditary Ceruloplasmin Deficiency	Deficiency Of Ferroxidase
Hypoceruloplasminemia, Hereditary	Ceruloplasmin Deficiency
Systemic Hemosiderosis Due To Aceruloplasminemia	ACERULOP

Congenital Disorder Of Glycosylation, Type In

Congenital Disorder Of Glycosylation	CDG1N
Congenital Disorders Of Glycosylation	Cdg In
Cdgin	Congenital Disorder Of Glycosylation 1n
Carbohydrate-Deficient Glycoprotein Syndrome	Cdg
Rft1-Cdg	Cdg-In
Congenital Disorder Of Glycosylation Type In	Carbohydrate Deficient Glycoprotein Syndrome
Cdg Syndrome	Congenital Disorder Of Glycosylation In
Carbohydrate-Deficient Glycoprotein Syndromes	Cdg Syndrome Type In
Carbohydrate Deficient Glycoprotein Syndrome Type In	Congenital Disorder Of Glycosylation Type 1n
Man5glcnac2-Pp-Dol Flippase Deficiency	Glycosylation, Congenital Disorder Of
Glycosylation, Congenital Disorder Of, Type In

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-RS13233	SLC39A14 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	SLC39A14	VGNC	VGNC:46402
Bos taurus	SLC39A14	VGNC	VGNC:34862
Felis catus	SLC39A14	VGNC	VGNC:65358
Mus musculus	SLC39A14	MGD	MGI:2384851
Rattus norvegicus	SLC39A14	RGD	RGD:1307026
Macaca mulatta	SLC39A14	VGNC	VGNC:77537

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