Free for academic non-profit institutions. Other users need a Commercial license
This gene encodes a member of the the SLC39A family of divalent metal transporters that mediates the cellular uptake of manganese, zinc, iron, and cadmium. The encoded protein contains eight transmembrane domains, a histidine-rich motif, and a metalloprotease motif, and is expressed on the plasma membrane and the endocytic vesicle membrane. It is an important transporter of nontransferrin-bound iron and a critical regulator of manganese homeostasis. Naturally occurring mutations in this gene are associated with neurodegeneration with brain iron accumulation and early-onset parkinsonism-dystonia with hypermanganesemia. [provided by RefSeq, May 2017]
SLC39A14 (Solute Carrier Family 39 Member 14) is a Protein Coding gene. Diseases associated with SLC39A14 include Hypermanganesemia With Dystonia 2 and Hyperostosis Cranialis Interna. Among its related pathways are Metal ion SLC transporters and NRF2 pathway. Gene Ontology (GO) annotations related to this gene include ferrous iron transmembrane transporter activity and zinc ion transmembrane transporter activity. An important paralog of this gene is SLC39A8.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005381 | iron ion transmembrane transporter activity | ISS | -- |
GO:0005384 | manganese ion transmembrane transporter activity | IMP | 31028174 |
GO:0005385 | zinc ion transmembrane transporter activity | IDA | 15642354 |
GO:0015086 | cadmium ion transmembrane transporter activity | ISS | -- |
GO:0015093 | ferrous iron transmembrane transporter activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005623 | cell | IEA | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005765 | lysosomal membrane | IDA | 20682781 |
GO:0005886 | plasma membrane | TAS | -- |
GO:0005887 | integral component of plasma membrane | IBA,IDA | 15642354 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Metal ion SLC transporters |
.38
|
|
2 | Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds | ||
3 | Ferroptosis | ||
4 | NRF2 pathway |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002062 | chondrocyte differentiation | ISS | -- |
GO:0006094 | gluconeogenesis | ISS | -- |
GO:0006811 | ion transport | IEA | -- |
GO:0006826 | iron ion transport | IEA | -- |
GO:0006829 | zinc ion transport | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Zinc chloride | Approved, Investigational | Pharma | Transporter, substrate | 0 | ||
Zinc sulfate, unspecified form | Approved, Experimental | Pharma | Transporter, substrate | 0 | ||
Nortriptyline | Approved | Pharma | Pore Blocker, Antagonist | 56 | ||
Iron | Approved, Experimental | Pharma | 1560 |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SLC39A14 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SLC39A14 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | SLC39A14 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Cow (Bos Taurus) |
Mammalia | SLC39A14 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Slc39a14 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Slc39a14 30 |
|
||
Chicken (Gallus gallus) |
Aves | SLC39A14 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | SLC39A14 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | slc39a14 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | SLC39A14 31 |
|
OneToOne | |
LOC799782 30 |
|
||||
Worm (Caenorhabditis elegans) |
Secernentea | Y55F3BL.2 30 31 |
|
ManyToMany | |
tag-140 31 |
|
ManyToMany | |||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | YKE4 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 08 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
708790 | Benign: not provided | 22,404,734(+) | G/A | SYNONYMOUS_VARIANT | |
710439 | Benign: not provided | 22,415,765(+) | C/A | INTRON_VARIANT | |
711484 | Benign: not provided | 22,414,848(+) | T/C | SYNONYMOUS_VARIANT | |
714377 | Likely Benign: not provided | 22,404,733(+) | C/G | MISSENSE_VARIANT | |
719493 | Benign: not provided | 22,417,642(+) | C/T | INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv451n21 | CNV | loss | 19592680 |
esv1010019 | CNV | deletion | 20482838 |
esv2736746 | CNV | deletion | 23290073 |
esv2736747 | CNV | deletion | 23290073 |
esv2759604 | CNV | loss | 17122850 |
esv2764071 | CNV | gain | 21179565 |
esv3616608 | CNV | loss | 21293372 |
esv3616609 | CNV | loss | 21293372 |
nsv1136003 | CNV | deletion | 24896259 |
nsv398059 | CNV | deletion | 16902084 |
nsv518646 | CNV | gain | 19592680 |
nsv6116 | CNV | insertion | 18451855 |
nsv831266 | CNV | loss | 17160897 |
nsv8321 | CNV | gain | 18304495 |
nsv958504 | CNV | deletion | 24416366 |
nsv971630 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
hypermanganesemia with dystonia 2 |
|
|
hyperostosis cranialis interna |
|
|
hypermanganesemia with dystonia |
|
|
hyperostosis |
|
|
dystonia |
|
|