SLC39A13 - solute carrier family 39 member 13 Gene
Also Known as ZIP13; SCDEDS; EDSSPD3; LZT-Hs9
Species: Homo sapiens
About SLC39A13
This gene has 13 transcripts (splice variants), 209 orthologues, 1 paralogue and is associated with 4 phenotypes. Ubiquitous expression in placenta (RPKM 19.2), testis (RPKM 13.3) and 25 other tissues.
Summary
This gene encodes a member of the LIV-1 subfamily of the ZIP transporter family. The encoded transmembrane protein functions as a zinc transporter. Mutations in this gene have been associated with the spondylocheiro dysplastic form of Ehlers-Danlos syndrome. Alternate transcript variants have been found for this gene. [provided by RefSeq, Jan 2016]
SLC39A13 Products (3)
| mRNA | Protein | Name |
|---|---|---|
| NM_001128225.3 | NP_001121697.2 | zinc transporter ZIP13 isoform a precursor |
| NM_001330245.2 | NP_001317174.2 | zinc transporter ZIP13 isoform c precursor |
| NM_152264.5 | NP_689477.3 | zinc transporter ZIP13 isoform b precursor |
SLC39A13 Protein Structure
Zip: ZIP Zinc transporter (66 - 366)
- 0
- 100
- 200
- 300
- 371 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
zinc transporter ZIP13 |
|
SLC39A13 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
SLC39A13 | Q96H72 | PGRMC2 | Homo sapiens | O15173 | 32296183 | |
|
Intra
|
SLC39A13 | Q96H72 | PGRMC2 | Homo sapiens | O15173 | 32296183 | |
|
Intra
|
SLC39A13 | Q96H72 | REL | Homo sapiens | Q04864 | 25416956 | |
|
Intra
|
SLC39A13 | Q96H72 | REL | Homo sapiens | Q04864 | 25416956 | |
|
Intra
|
SLC39A13 | Q96H72 | CD40 | Homo sapiens | P25942 | 32296183 | |
|
Intra
|
SLC39A13 | Q96H72 | CD40 | Homo sapiens | P25942 | 32296183 | |
|
Intra
|
SLC39A13 | Q96H72 | TCF4 | Homo sapiens | P15884 | 25416956 | |
|
Intra
|
SLC39A13 | Q96H72 | TCF4 | Homo sapiens | P15884 | 25416956 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
|
| Ehlers-Danlos Syndrome |
|
|
| Hypermanganesemia With Dystonia 2 |
|
|
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
|
| Ehlers-Danlos Syndrome, Hypermobility Type |
|
|
| Hypermanganesemia With Dystonia |
|
|
| Hypermobility Syndrome |
|
|
| Frontonasal Dysplasia 2 |
|
|
| Collagen Disease |
|
|
| Larsen-Like Syndrome B3gat3 Type |
|
|
| Radioulnar Synostosis |
|
|
| Enophthalmos |
|
|
| Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
|
| Metal Metabolism Disorder |
|
|
| Hemochromatosis, Type 1 |
|
|
| Brittle Bone Disorder |
|
|
| Osteochondrodysplasia |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Canis familiaris | SLC39A13 | VGNC | VGNC:56096 |
| Macaca mulatta | SLC39A13 | VGNC | VGNC:77538 |
| Felis catus | SLC39A13 | VGNC | VGNC:65357 |
| Mus musculus | SLC39A13 | MGD | MGI:1915677 |
| Rattus norvegicus | SLC39A13 | RGD | RGD:1304695 |
| Bos taurus | SLC39A13 | VGNC | VGNC:34861 |
| Others | SLC39A13 | NCBI |