1. Gene
  2. SLC39A13 - solute carrier family 39 member 13 Gene

SLC39A13 - solute carrier family 39 member 13 Gene

中文名称:溶质载体家族 39 成员 13

种属: Homo sapiens

同用名: ZIP13; SCDEDS; EDSSPD3; LZT-Hs9

基因 ID: 91252 | 基因类型: protein coding

关于 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.

功能概要

该基因编码 ZIP 转运蛋白家族的 LIV-1 亚家族成员。编码的跨膜蛋白起锌转运蛋白的作用。该基因的突变与 Ehlers-Danlos 综合征的脊椎关节发育不良有关。已发现该基因的替代转录物变体。[RefSeq 提供,2016 年 1 月]

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 基因产物(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 蛋白结构

Zip

Zip: ZIP Zinc transporter (66 - 366)

  • 0
  • 100
  • 200
  • 300
  • 371 a.a.
蛋白主名 其他名称

zinc transporter ZIP13

LIV-1 subfamily of ZIP zinc transporter 9

SLC39A13 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
Intra SLC39A13 Q96H72 PGRMC2 Homo sapiens O15173
Y2H Prey Pooling
32296183
Intra SLC39A13 Q96H72 PGRMC2 Homo sapiens O15173
Y2H Array
32296183
Intra SLC39A13 Q96H72 REL Homo sapiens Q04864
Y2H Prey Pooling
25416956
Intra SLC39A13 Q96H72 REL Homo sapiens Q04864
Validated Y2H
25416956
Intra SLC39A13 Q96H72 CD40 Homo sapiens P25942
Y2H Prey Pooling
32296183
Intra SLC39A13 Q96H72 CD40 Homo sapiens P25942
Y2H Array
32296183
Intra SLC39A13 Q96H72 TCF4 Homo sapiens P15884
Y2H Array
25416956
Intra SLC39A13 Q96H72 TCF4 Homo sapiens P15884
Validated Y2H
25416956
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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