SLC39A13 - solute carrier family 39 member 13 Gene

Also Known as ZIP13; SCDEDS; EDSSPD3; LZT-Hs9

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 91252

About SLC39A13

Cytogenetic location: 11p11.2 Genomic coordinates (GRCh38): 11:47,407,276-47,416,500 (from NCBI)

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: ZIP Zinc transporter (66 - 366)

  • 0
  • 100
  • 200
  • 300
  • 371 a.a.
Protein Preferred Names Protein Names

zinc transporter ZIP13

  • LIV-1 subfamily of ZIP zinc transporter 9

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
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
  • Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like

  • Scd-Eds

  • EDSSPD3

  • Ehlers-Danlos Syndrome Spondylodysplastic Type 3

  • Ehlers-Danlos Syndrome, Spondylocheirodysplastic Type

  • Slc39a13-Related Spondylodysplastic Ehlers-Danlos Syndrome

  • Slc39a13-Related Speds

  • Slc39a13-Related Spondylodysplastic Eds

  • Spondylocheirodysplastic Ehlers-Danlos Syndrome

  • Speds-Slc39a13

  • Ehlers-Danlos Syndrome-Like Spondylocheirodysplasia

  • Ehlers-Danlos Syndrome, Spondylodysplastic, Type 3

Ehlers-Danlos Syndrome
  • Eds

  • Cutis Hyperelastica

  • Elastic Skin

  • Ehlers-Danlos Syndromes

  • Ed Syndrome

  • Ehlers Danlos Syndrome

  • Ehlers Danlos Disease

  • Eds - [Ehlers-Danlos Syndrome]

Hypermanganesemia With Dystonia 2
  • HMNDYT2

  • Dystonia-Parkinsonism-Hypermanganesemia Syndrome

  • Hypermanganesemia With Dystonia, Type 2

Acrodermatitis Enteropathica, Zinc-Deficiency Type
  • Acrodermatitis Enteropathica

  • AEZ

  • Enteropathica

  • Brandt Syndrome

  • Ae

  • Acrodermatitis Enteropathica Zinc Deficiency Type

  • Danbolt-Cross Syndrome

  • Acrodermatitis Enteropathica, Zinc Deficiency Type

  • Inherited Zinc Deficiency

  • Acrodermatitis Enteropathica, Zinc Deficiency

  • Danbolt-Closs Syndrome

  • Primary Zinc Malabsorption Syndrome

Ehlers-Danlos Syndrome, Hypermobility Type
  • Ehlers-Danlos Syndrome, Type 3

  • Ehlers-Danlos Syndrome, Type Iii

  • EDSHMB

  • Eds Iii

  • Benign Hypermobility Syndrome

  • Ehlers-Danlos Syndrome Hypermobility Type

  • Eds3

  • Type Iii Ehlers-Danlos Syndrome

  • Ehlers-Danlos Syndrome Type 3

  • Es-D3

Hypermanganesemia With Dystonia
  • Familial Manganese-Induced Neurotoxicity

  • Hmndyt

Hypermobility Syndrome
  • Benign Joint Hypermobility

Frontonasal Dysplasia 2
  • FND2

  • Frontonasal Dysplasia With Alopecia And Genital Anomaly

  • Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome

  • Alx4-Related Fndag

  • Craniofrontonasal Dysplasia With Alopecia And Hypogonadism

  • Frontonasal Dysplasia Type 2

  • Frontonasal Dysplasia With Alopecia And Genital Abnomality

  • Doid:0081046

  • Dysplasia, Frontonasal, Type 2

Collagen Disease
  • Collagen Diseases

  • Collagen Disorder

Larsen-Like Syndrome B3gat3 Type
  • Larsen-Like Syndrome, B3gat3 Type

  • Multiple Joint Dislocations-Short Stature-Craniofacial Dysmorphism-Congenital Heart Defects Syndrome

  • Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Congenital Heart Defects

  • Joint Dislocations, Multiple, Short Stature, Craniofacial Dysmorphism, Congenital Heart Defects

Radioulnar Synostosis
  • Radio-Ulnar Synostosis Type 1

Enophthalmos
Spondyloepimetaphyseal Dysplasia With Joint Laxity
  • Dysplasia, Spondyloepimetaphyseal, With Joint Laxity

  • Semdjl

  • Spondyloepimetaphyseal Dysplasia Joint Laxity

  • Semd-Jl

  • Semdjl1

  • Spondyloepimetaphyseal Dysplasia With Joint Laxity Type 1

  • Spondyloepimetaphyseal Dysplasia With Joint Laxity, Beighton Type

Metal Metabolism Disorder
  • Metal Metabolism, Inborn Errors

  • Inborn Metal Metabolism Disorder

Hemochromatosis, Type 1
  • Hemochromatosis

  • Hemochromatosis Type 1

  • Hereditary Hemochromatosis

  • Hh

  • HFE1

  • Hfe Hemochromatosis, Modifier Of

  • Symptomatic Form Of Classic Hemochromatosis

  • Symptomatic Form Of Hemochromatosis Type 1

  • Symptomatic Form Of Hfe-Related Hereditary Hemochromatosis

  • Haemochromatosis

  • Iron Storage Disorder

  • Bronze Diabetes

  • Hereditary Haemochromatosis

  • Hlah

  • Hfe

  • Hemochromatosis, Hereditary

  • Diabetes Bronze

  • Classic Hemochromatosis

  • Hfe-Associated Hereditary Hemochromatosis

  • Hemochromatosis Classic

  • Bronzed Cirrhosis

  • Familial Hemochromatosis

  • Genetic Hemochromatosis

  • Hc

  • Pigmentary Cirrhosis

  • Primary Hemochromatosis

  • Troisier-Hanot-Chauffard Syndrome

  • Von Recklenhausen-Applebaum Disease

  • Hemochromatosis 1

  • Primary Hereditary Hemochromatosis

  • Bronze Cirrhosis

Brittle Bone Disorder
  • Osteogenesis Imperfecta

  • Brittle Bone Disease

  • Fragilitas Ossium

  • Osteopsathyrosis

  • Lobstein Disease

  • Oi

  • Vrolik Disease

  • Lobstein'S Disease

  • Lobstein'S Syndrome

  • Vrolik'S Disease

  • Porak And Durante Disease

  • Glass Bone Disease

  • Osteogenesis Imperfecta, Dominant Perinatal Lethal

  • Osteogenesis Imperfecta, Recessive Perinatal Lethal

  • Brittle Bone Syndrome

  • Oi - [Osteogenesis Imperfecta]

  • Ossium Fragility

  • Osteitis Fragilitans

  • Bony Fragility

  • Blue Sclera With Fragility Of Bone And Deafness

  • White Blue Sclera - Fragility Of Bone - Deafness

Osteochondrodysplasia
  • Skeletal Dysplasia

  • Chondrodystrophy

  • Congenital Anomaly Of Cartilage

  • Osteochondrodysplasias

  • Cartilage Development Disorder

  • Osteochondrodysplasia Syndrome

  • Dysplasia, Skeletal

  • Mucopolysaccharidosis Iv

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

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