• Gene id: 55630

Gene Summary

• Gene Symbol: SLC39A4   Gene   UCSC   Ensembl
• Aliases: AEZ, AWMS2, ZIP4
• Gene name: solute carrier family 39 member 4
• Alternate names: zinc transporter ZIP4, solute carrier family 39 (zinc transporter), member 4, zrt- and Irt-like protein 4,
• Gene location: 8q24.3 (144417145: 144412413)     Exons: 12     NC_000008.11
• Gene summary(Entrez): 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. M
• OMIM: 137216

Protein Summary

• Protein general information: Q6P5W5  
  • Name: Zinc transporter ZIP4 (Solute carrier family 39 member 4) (Zrt and Irt like protein 4) (ZIP 4)
  • Length: 647  
  • Mass: 68408
  • Tissue specificity: Highly expressed in kidney, small intestine, stomach, colon, jejunum and duodenum. {ECO
• Sequence:

  MASLVSLELGLLLAVLVVTATASPPAGLLSLLTSGQGALDQEALGGLLNTLADRVHCANGPCGKCLSVEDALGLG
  EPEGSGLPPGPVLEARYVARLSAAAVLYLSNPEGTCEDARAGLWASHADHLLALLESPKALTPGLSWLLQRMQAR
  AAGQTPKMACVDIPQLLEEAVGAGAPGSAGGVLAALLDHVRSGSCFHALPSPQYFVDFVFQQHSSEVPMTLAELS
  ALMQRLGVGREAHSDHSHRHRGASSRDPVPLISSSNSSSVWDTVCLSARDVMAAYGLSEQAGVTPEAWAQLSPAL
  LQQQLSGACTSQSRPPVQDQLSQSERYLYGSLATLLICLCAVFGLLLLTCTGCRGVTHYILQTFLSLAVGAVTGD
  AVLHLTPKVLGLHTHSEEGLSPQPTWRLLAMLAGLYAFFLFENLFNLLLPRDPEDLEDGPCGHSSHSHGGHSHGV
  SLQLAPSELRQPKPPHEGSRADLVAEESPELLNPEPRRLSPELRLLPYMITLGDAVHNFADGLAVGAAFASSWKT
  GLATSLAVFCHELPHELGDFAALLHAGLSVRQALLLNLASALTAFAGLYVALAVGVSEESEAWILAVATGLFLYV
  ALCDMLPAMLKVRDPRPWLLFLLHNVGLLGGWTVLLLLSLYEDDITF

• Structural information:
  • Interpro: IPR003689  IPR041137  
  • STRING: ENSP00000301305
• Other Databases: GeneCards:  SLC39A4  Malacards:  SLC39A4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005385	zinc ion transmembrane transporter activity	IDA	molecular function
GO:0071578	zinc ion import across plasma membrane	IBA	biological process
GO:0007165	signal transduction	IBA	biological process
GO:0006882	cellular zinc ion homeostasis	IBA	biological process
GO:0005385	zinc ion transmembrane transporter activity	IBA	molecular function
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0031410	cytoplasmic vesicle	IDA	cellular component
GO:0030001	metal ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0046873	metal ion transmembrane transporter activity	IEA	molecular function
GO:0055085	transmembrane transport	IEA	biological process
GO:0005768	endosome	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006829	zinc ion transport	IEA	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0034224	cellular response to zinc ion starvation	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0055038	recycling endosome membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04978	Mineral absorption

Diseases

Associated diseases	References
Acrodermatitis enteropathica	KEGG:H00212
Acrodermatitis enteropathica	KEGG:H00212
Acrodermatitis enteropathica	PMID:12068297
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq