Seroatlas · Human Serome Atlas

SLC39A4

Zinc transporter ZIP4

Also known as: AEZ, AWMS2, S39A4_HUMAN, ZIP4

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q6P5W5
Gene
SLC39A4
Ensembl
ENSG00000147804
Chromosome
8
Canonical length
647 aa
Protein class
Disease related genes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters
Quaternary structure
Homodimer

OverviewNCBI 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. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]

Canonical amino-acid sequenceUniProt

647 residues, UniProt reviewed canonical sequence.

>Q6P5W5|SLC39A4
     1  MASLVSLELG LLLAVLVVTA TASPPAGLLS LLTSGQGALD QEALGGLLNT LADRVHCANG
    61  PCGKCLSVED ALGLGEPEGS GLPPGPVLEA RYVARLSAAA VLYLSNPEGT CEDARAGLWA
   121  SHADHLLALL ESPKALTPGL SWLLQRMQAR AAGQTPKMAC VDIPQLLEEA VGAGAPGSAG
   181  GVLAALLDHV RSGSCFHALP SPQYFVDFVF QQHSSEVPMT LAELSALMQR LGVGREAHSD
   241  HSHRHRGASS RDPVPLISSS NSSSVWDTVC LSARDVMAAY GLSEQAGVTP EAWAQLSPAL
   301  LQQQLSGACT SQSRPPVQDQ LSQSERYLYG SLATLLICLC AVFGLLLLTC TGCRGVTHYI
   361  LQTFLSLAVG AVTGDAVLHL TPKVLGLHTH SEEGLSPQPT WRLLAMLAGL YAFFLFENLF
   421  NLLLPRDPED LEDGPCGHSS HSHGGHSHGV SLQLAPSELR QPKPPHEGSR ADLVAEESPE
   481  LLNPEPRRLS PELRLLPYMI TLGDAVHNFA DGLAVGAAFA SSWKTGLATS LAVFCHELPH
   541  ELGDFAALLH AGLSVRQALL LNLASALTAF AGLYVALAVG VSEESEAWIL AVATGLFLYV
   601  ALCDMLPAML KVRDPRPWLL FLLHNVGLLG GWTVLLLLSL YEDDITF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SLC39A4 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Cell surface
Secreted
No
Transmembrane segments
8
Mean surface accessibility (rSASA)
0.35
Highest tissue expression
83 nTPM

Expression across tissuesHPA

Tissue

  • duodenum: 83 nTPM
  • small intestine: 69 nTPM
  • colon: 31 nTPM
  • kidney: 18 nTPM
  • thyroid gland: 3.7 nTPM
  • ovary: 3.1 nTPM

Single-cell type

  • enterocytes: 238 nCPM
  • oocytes: 180 nCPM
  • gastric progenitor cells: 104 nCPM
  • enteric transient amplifying cells: 60 nCPM
  • gastric chief cells: 57 nCPM
  • colonocytes: 56 nCPM

Immune cell

  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM
  • MAIT T-cell: 0 nTPM

Brain region

  • cerebral cortex: 11 nTPM
  • white matter: 7.9 nTPM
  • amygdala: 7.2 nTPM
  • basal ganglia: 6.1 nTPM
  • hippocampal formation: 4.3 nTPM
  • hypothalamus: 2.2 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SLC39A4.

Disease | AllUniProt

Conditions SLC39A4 is implicated in, by any mechanism.

  • Acrodermatitis enteropathica, zinc-deficiency type (AEZ) MIM:201100

Disease | GeneticClinVar

146 pathogenic / likely-pathogenic of 1,110 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Hereditary acrodermatitis enteropathica
  • SLC39A4-related disorder
  • Inborn genetic diseases
  • Rare genetic inflammatory skin disorders

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.7
gnomAD pLI
0
gnomAD missense Z
-0.3
DepMap mean gene effect
-0.09
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 11% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads SLC39A4 as an antibody target. Whether an autoantibody or antibody against SLC39A4 could matter depends on whether native SLC39A4 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SLC39A4 is annotated at the cell surface, where native SLC39A4 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label SLC39A4 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/SLC39A4. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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