SLC39A4 (solute carrier family 39 member 4)

Gene
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55630
Gene name Gene Name - the full gene name approved by the HGNC.
Solute carrier family 39 member 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SLC39A4
Synonyms (NCBI Gene) Gene synonyms aliases
AEZ, AWMS2, ZIP4
Disease Acronyms (UniProt) Disease acronyms from UniProt database
AEZ
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8q24.3
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(10)
SNP ID Visualize variation Clinical significance Consequence
rs121434287 G>A Pathogenic Upstream transcript variant, genic upstream transcript variant, coding sequence variant, missense variant
rs121434288 C>T Pathogenic Intron variant, coding sequence variant, missense variant
rs121434289 C>T Pathogenic Upstream transcript variant, genic upstream transcript variant, coding sequence variant, missense variant
rs121434290 G>T Pathogenic Coding sequence variant, genic upstream transcript variant, intron variant, missense variant
rs121434291 C>T Pathogenic Upstream transcript variant, genic upstream transcript variant, coding sequence variant, missense variant
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(11)
GO ID Ontology Definition Evidence Reference
GO:0005385 Function Zinc ion transmembrane transporter activity IBA 21873635
GO:0005385 Function Zinc ion transmembrane transporter activity IDA 22242765
GO:0005886 Component Plasma membrane IDA 14612438
GO:0005886 Component Plasma membrane TAS
GO:0005887 Component Integral component of plasma membrane IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
607059 17129 ENSG00000147804
Protein
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q6P5W5
Protein name Zinc transporter ZIP4 (Solute carrier family 39 member 4) (Zrt- and Irt-like protein 4) (ZIP-4)
Protein function Selective transporter that mediates the uptake of Zn(2+) (PubMed:17202136, PubMed:22242765, PubMed:27321477, PubMed:28875161, PubMed:31164399, PubMed:31914589, PubMed:31979155, PubMed:33837739, PubMed:36473915). Plays an essential role for dieta
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF18292 ZIP4_domain 46 → 196 Zinc transporter ZIP4 domain Domain
PF02535 Zip 325 → 639 ZIP Zinc transporter Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in kidney, small intestine, stomach, colon, jejunum and duodenum. {ECO:0000269|PubMed:12032886, ECO:0000269|PubMed:12068297}.
Sequence
Sequence length 647
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Mineral absorption
Alzheimer disease
Parkinson disease 		  Zinc influx into cells by the SLC39 gene family
Defective SLC39A4 causes acrodermatitis enteropathica, zinc-deficiency type (AEZ)
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal
Disease term Disease name dbSNP ID References
Acrodermatitis enteropathica Acrodermatitis enteropathica rs2130796648, rs2130798769, rs781908504, rs121434287, rs121434288, rs121434289, rs121434290, rs121434291, rs2130797713, rs121434292, rs121434293, rs1057523837 12787121, 22082465, 15358787, 12068297, 17483098, 22166942, 12032886, 14709598, 27604308, 14702039
Dermatitis Acrodermatitis rs61816761, rs150597413, rs138726443, rs201356558, rs149484917, rs372754256, rs747301529, rs567795279, rs745915174 16819703, 16714095, 17202136, 17190629, 16889938
Show/Hide Unknown Diseases (1)
Unknown
Disease term Disease name Evidence References Source
Astrocytoma Astrocytoma GWAS
Show/Hide Text Mining Associations (28)
Associations from Text Mining
Disease Name Relationship Type References
Acrodermatitis Associate 24586184, 26684640
Acrodermatitis enteropathica Associate 12787121, 17202136, 18328205, 21165302, 24586184, 27940220, 31164399, 31979155, 33837739
Adenocarcinoma of Lung Associate 33535184
Breast Neoplasms Associate 32744318
Carcinogenesis Associate 27611948
Carcinoma Hepatocellular Associate 24643086
Carcinoma Pancreatic Ductal Associate 24345208
Carcinoma Squamous Cell Associate 33535184
Fibrocartilaginous embolism Associate 38217540
Genetic Diseases Inborn Associate 31164399