SLC39A14 - solute carrier family 39 member 14 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 23516

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	References	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	References	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	References	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

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13233	SLC39A14 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20674	Slc39a14 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27185	Slc39a14 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	SLC39A14	NCBI