Gene
SLC39A4
solute carrier family 39 member 4
- HGNC 17129↗(opens in a new tab)
- Ensembl gene ENSG00000147804↗(opens in a new tab)
- NCBI Gene 55630↗(opens in a new tab)
Summary
- Cytogenetic location
- 8q24.3
- Coordinates
- Chromosome 8: 144,412,414–144,416,844 (GRCh38)
- Exons
- 12 exons across 4.4 kb
- Protein
- 647 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- ZIP4, ZIP-4, AWMS2
- Previous symbols
- AEZ
- MANE Select transcript
- ENST00000301305.8NM_130849.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Acrodermatitis Enteropathica
- Autosomal recessive
Acrodermatitis enteropathica (AE) is a rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure.
- ClinGen rates the link definitive
- 7 GenCC submitters rate it definitive or strong
Inheritance
- Autosomal recessive
- It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.
How SLC39A4 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 2.1 kb of the gene's 4.4 kb; 1,944 of those bases code for the protein.
How a genome test reads SLC39A4
71
positions in SLC39A4 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 4.4 kb of SLC39A4, introns included, not only the 2.1 kb of exons.
Traits linked to SLC39A4
The Human Phenotype Ontology lists these as features of the rare conditions SLC39A4 can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Abnormality of the eyebrow
- Abnormality of the eyelid
- Abnormality of the tongue
- Grooved tongue
- Inflammation of eyelids
- Inflammation of the lips
- Inflammation of the tongue
- Pink eye
Show 2 more traits
Abnormality of the integument
- Dry skin
- Abnormal blistering of the skin
- Generalized abnormality of skin
- Hair loss
- Abnormality of the nail
- Grooved nails
- Open skin sore
- Paronychia
Show 1 more trait
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). SLC39A4 gene: solute carrier family 39 member 4. Retrieved 17 October 2026, from https://dantelabs.com/genes/slc39a4
Dante Labs. SLC39A4 gene: solute carrier family 39 member 4 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/slc39a4
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