SLC39A4 - solute carrier family 39 member 4 Gene

Also Known as AEZ; ZIP4; AWMS2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 55630

About SLC39A4

Cytogenetic location: 8q24.3 Genomic coordinates (GRCh38): 8:144,412,414-144,416,844 (from NCBI)

This gene has 9 transcripts (splice variants), 1 gene allele, 208 orthologues, 6 paralogues and is associated with 3 phenotypes. Biased expression in duodenum (RPKM 47.9), small intestine (RPKM 33.9) and 3 other tissues.

Summary

This gene encodes a member of the zinc/iron-regulated transporter-like protein (ZIP) family. The encoded protein localizes to cell membranes and is required for zinc uptake in the intestine. Mutations in this gene result in acrodermatitis enteropathica. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]

SLC39A4 Products (4)

mRNA Protein Name
NM_001280557.2 NP_001267486.1 zinc transporter ZIP4 isoform 3
NM_001374839.1 NP_001361768.1 zinc transporter ZIP4 isoform 4 precursor
NM_017767.3 NP_060237.3 zinc transporter ZIP4 isoform 1
NM_130849.4 NP_570901.3 zinc transporter ZIP4 isoform 2 precursor
Molecular Function GO Annotation Evidence References Source
enables identical protein binding IDA
IDA: Inferred from direct assay
30874431 GOA
enables metal ion binding EXP
EXP: Inferred from Experiment
30793391 GOA
enables zinc ion binding IMP
IMP: Inferred from mutant phenotype
25882556 GOA
enables zinc ion sensor activity IMP
IMP: Inferred from mutant phenotype
32348750 GOA
enables zinc ion sequestering activity EXP
EXP: Inferred from Experiment
30793391 GOA
enables zinc ion sequestering activity IMP
IMP: Inferred from mutant phenotype
25882556 GOA
enables zinc ion transmembrane transporter activity IDA
IDA: Inferred from direct assay
22242765 GOA
Biological Process GO Annotation Evidence References Source
involved in zinc ion transmembrane transport IDA
IDA: Inferred from direct assay
31164399 GOA
Cellular Component GO Annotation Evidence References Source
located in cytoplasmic vesicle IDA
IDA: Inferred from direct assay
14612438 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
14612438 GOA
located in recycling endosome membrane IDA
IDA: Inferred from direct assay
14612438 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

SLC39A4 Protein Structure

Zip

Zip: ZIP Zinc transporter (328 - 638)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 600
  • 647 a.a.
Protein Preferred Names Protein Names

zinc transporter ZIP4

  • ZRT/IRT-like protein 4

SLC39A4 Antibodies

Cat. No. Product Name Application Reactivity
HY-P811319 ZIP4 Antibody WB, IHC-P Human, Mouse, Rat

Related Diseases

Diseases Alias
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

Acrodermatitis
Alopecia
Metal Metabolism Disorder
  • Metal Metabolism, Inborn Errors

  • Inborn Metal Metabolism Disorder

Pancreatic Cancer
  • Pancreatic Carcinoma

  • Carcinoma Of Pancreas

  • Familial Pancreatic Carcinoma

  • Pancreatic Neoplasm

  • Pancreatic Carcinoma, Familial

  • Malignant Neoplasm Of Pancreas

  • Pancreatic Acinar Carcinoma

  • Pancreatic Tumor

  • Familial Pancreatic Cancer

  • Neoplasm Of The Pancreas

  • Cancer Of The Pancreas

  • Pancreatic Carcinoma, Somatic

  • Pancreatic Cancer, Somatic

  • Ca Body Of Pancreas

  • Ca Head Of Pancreas

  • Ca Tail Of Pancreas

  • Malignant Neoplasm Of Body Of Pancreas

  • Malignant Neoplasm Of Head Of Pancreas

  • Malignant Neoplasm Of Tail Of Pancreas

  • Pancreas Neoplasm

  • Exocrine Cancer

  • Exocrine Pancreas Carcinoma

  • Hereditary Pancreatic Cancer

  • Hereditary Pancreatic Carcinoma

  • PNCA

  • Pancreatic Cancer, Susceptibility To

  • Carcinoma Of Head Of Pancreas

  • Pancreatic Neoplasms

  • Pancreatic Tumors

  • Cancer, Pancreatic

  • Cancer Of Pancreas

  • Mixed Islet Cell With Exocrine Carcinoma Of Unspecified Site

Hypermanganesemia With Dystonia
  • Familial Manganese-Induced Neurotoxicity

  • Hmndyt

Angular Cheilitis
  • Cheilosis

  • Angular Cheilosis

  • Angular Stomatitis

  • Commissural Cheilitis

Diarrhea
  • Diarrhoea

  • Diarrhea Of Presumed Infectious Origin

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

Ehlers-Danlos Syndrome
  • Eds

  • Cutis Hyperelastica

  • Elastic Skin

  • Ehlers-Danlos Syndromes

  • Ed Syndrome

  • Ehlers Danlos Syndrome

  • Ehlers Danlos Disease

  • Eds - [Ehlers-Danlos Syndrome]

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

Orthologs Information

Species Symbol Source ID
Mus musculus SLC39A4 MGD MGI:1919277
Canis familiaris SLC39A4 VGNC VGNC:46404
Bos taurus SLC39A4 VGNC VGNC:34864
Felis catus SLC39A4 VGNC VGNC:65360
Rattus norvegicus SLC39A4 RGD RGD:1306701
Macaca mulatta SLC39A4 VGNC VGNC:77497
Others SLC39A4 NCBI