SLC39A2 solute carrier family 39 member 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC39A2provided by HGNC
Official Full Name: solute carrier family 39 member 2provided by HGNC
Primary source: HGNC:HGNC:17127
See related: Ensembl:ENSG00000165794 MIM:612166; AllianceGenome:HGNC:17127
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: 6A1; ZIP2; ETI-1; ZIP-2
Summary: This gene encodes a member of the ZIP family of metal ion transporters. The encoded protein functions as a zinc transporter. Mutations in this gene may be associated with susceptibility to carotid artery disease. Multiple transcript variants have been described. [provided by RefSeq, Mar 2010]
Expression: Biased expression in skin (RPKM 12.0), esophagus (RPKM 8.3) and 3 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 14q11.2

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (20999293..21001871)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (15196693..15199271)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (21467452..21470030)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

results provide the first structural evidence for the previously observed pH and voltage modulation of ZIP2-mediated metal transport, identify the substrate-binding site, and suggest a structure-based transport mechanism for the ZIP2 transporter.
Title: Unraveling the structural elements of pH sensitivity and substrate binding in the human zinc transporter SLC39A2 (ZIP2).
Reassessment of the Transport Mechanism of the Human Zinc Transporter SLC39A2.
Title: Reassessment of the Transport Mechanism of the Human Zinc Transporter SLC39A2.
Results showed decreased expression of Zn uptake transporters ZIP2 and ZIP4 on mRNA and protein level correlating with SHANK3 expression levels, and found reduced levels of ZIP4 protein co-localizing with SHANK3 at the plasma membrane. ZIP4 exists in a complex with SHANK3. Further results confirmed a link between enterocytic SHANK3, ZIP2 and ZIP4.
Title: Zinc deficiency and low enterocyte zinc transporter expression in human patients with autism related mutations in SHANK3.
the splice switch to DeltaC-ZIP2 as well as decreased expression of other ZIPs caused zinc deficiency, which is sufficient for induction of MUC5AC.
Title: Zinc Deficiency via a Splice Switch in Zinc Importer ZIP2/SLC39A2 Causes Cystic Fibrosis-Associated MUC5AC Hypersecretion in Airway Epithelial Cells.
ZIP2 Gln/Arg/Leu polymorphism involve in proinflammatory mediation and zinc homeostasis in elderly population with a more pronounced anti-inflammatory effect of zinc supplementation in subjects carrying ZIP2 Leu- (Arg43Arg) genotype
Title: Effect of ZIP2 Gln/Arg/Leu (rs2234632) polymorphism on zinc homeostasis and inflammatory response following zinc supplementation.
results of this study suggest that ZIP2, a zinc transporter expressed specifically in the epidermis, and zinc taken up by ZIP2 are necessary for the differentiation of keratinocytes
Title: ZIP2 protein, a zinc transporter, is associated with keratinocyte differentiation.
Data indicate that the average expression level of zinc transporter Zip2 was significantly higher and zinc transporters Zip6, Zip8 mRNA levels were significantly lower in short stature children than in health controls.
Title: Zip1, Zip2, and Zip8 mRNA expressions were associated with growth hormone level during the growth hormone provocation test in children with short stature.
Increased expression of Zip2 gene is closely associated with immunity of pulmonary tuberculosis patients, suggesting that the Zip2 gene may play a key role in initial infection control.
Title: Up-regulation of Slc39A2(Zip2) mRNA in peripheral blood mononuclear cells from patients with pulmonary tuberculosis.
Expression of two Zn2+ influx transporters, ZIP2 and ZIP4, is reduced as a function of retinal pigment epithelium age.
Title: ZIP2 and ZIP4 mediate age-related zinc fluxes across the retinal pigment epithelium.
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China.

Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:481566

RH48291 (e-PCR)
- UniSTS:39788

NoName (e-PCR)
- UniSTS:482712

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables metal ion transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables zinc ion transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables zinc ion transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables zinc ion transmembrane transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables zinc ion transmembrane transporter activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
involved_in cadmium ion transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in keratinocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in zinc ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in zinc ion transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in zinc ion transmembrane transport	TAS Traceable Author Statement more info
involved_in zinc ion transport	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasmic ribonucleoprotein granule	IDA Inferred from Direct Assay more info
located_in cytoplasmic vesicle	IDA Inferred from Direct Assay more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: zinc transporter ZIP2

Names: ZRT/IRT-like protein 2; Zrt- and Irt-like protein 2; solute carrier family 39 (zinc transporter), member 2; zinc transporter 2; zinc uptake transporter 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_017065.1 RefSeqGene

Range

5039..7617

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001256588.2 → NP_001243517.1 zinc transporter ZIP2 isoform b

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate splice site that results in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (b) has a distinct and significantly shorter C-terminus, compared to isoform a.

Source sequence(s)

AI382710, BC098274, BP359281, CN306082

Consensus CDS

CCDS58303.1

UniProtKB/Swiss-Prot

Q9NP94

Related

ENSP00000452568.1, ENST00000554422.5

Conserved Domains (1) summary

cl00437
Location:5 → 74

Zip; ZIP Zinc transporter
NM_014579.4 → NP_055394.2 zinc transporter ZIP2 isoform a

See identical proteins and their annotated locations for NP_055394.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).

Source sequence(s)

AK314974, D83039

Consensus CDS

CCDS9563.1

UniProtKB/Swiss-Prot

B2RC76, G3V5X2, Q4QQJ1, Q4V9S4, Q96JT6, Q9NP94, Q9UD20

Related

ENSP00000298681.4, ENST00000298681.5

Conserved Domains (1) summary

pfam02535
Location:5 → 306

Zip; ZIP Zinc transporter