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SLC39A13 Gene

protein-coding   GIFtS: 50
GCID: GC11P047430

Solute Carrier Family 39 (Zinc Transporter), Member 13

(Previous names: solute carrier family 39 (metal ion transporter), member...)
  See SLC39A13-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Solute Carrier Family 39 (Zinc Transporter), Member 131 2     Zinc Transporter ZIP132
Solute Carrier Family 39 (Metal Ion Transporter), Member 131 2     ZIP-133
Zrt- And Irt-Like Protein 132 3     ZIP133
LZT-Hs92 3     Solute Carrier Family 39 Member 133
LIV-1 Subfamily Of ZIP Zinc Transporter 92 3     

External Ids:    HGNC: 208591   Entrez Gene: 912522   Ensembl: ENSG000001659157   OMIM: 6087355   UniProtKB: Q96H723   

Export aliases for SLC39A13 gene to outside databases

Previous GC identifers: GC00U912991 GC11P047393 GC11P047394 GC11P047350 GC11P047130


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SLC39A13 Gene:
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.(provided by RefSeq, Mar 2010)

GeneCards Summary for SLC39A13 Gene:
SLC39A13 (solute carrier family 39 (zinc transporter), member 13) is a protein-coding gene. Diseases associated with SLC39A13 include spondylocheirodysplasia, ehlers-danlos syndrome-like, and tricuspid valve insufficiency. GO annotations related to this gene include zinc ion transmembrane transporter activity and protein homodimerization activity. An important paralog of this gene is SLC39A10.

UniProtKB/Swiss-Prot: S39AD_HUMAN, Q96H72
Function: Acts as a zinc-influx transporter




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000011.10  NT_009237.19  NC_018922.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SLC39A13 gene promoter:
         STAT1   MAZR   GATA-3   AML1a   Lmo2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC39A13 promoter sequence
   Search Chromatin IP Primers for SLC39A13

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SLC39A13


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11p11.2   Ensembl cytogenetic band:  11p11.2   HGNC cytogenetic band: 11p11.2

SLC39A13 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC39A13 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P047430:  view genomic region     (about GC identifiers)

Start:
47,428,683 bp from pter      End:
47,438,051 bp from pter
Size:
9,369 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: S39AD_HUMAN, Q96H72 (See protein sequence)
Recommended Name: Zinc transporter ZIP13  
Size: 371 amino acids; 39011 Da
Subunit: Homodimer (Probable)
Sequence caution: Sequence=BAC05365.1; Type=Frameshift; Positions=314;
Secondary accessions: D3DQR6 D3DQR7 E9PLY1 E9PQV3 Q659D9 Q8N7C9 Q8WV10
Alternative splicing: 2 isoforms:  Q96H72-1   Q96H72-2   

Explore the universe of human proteins at neXtProt for SLC39A13: NX_Q96H72

Explore proteomics data for SLC39A13 at MOPED


See SLC39A13 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (2 alternative transcripts): 
NP_001121697.1  NP_689477.2  

ENSEMBL proteins: 
 ENSP00000434290   ENSP00000435845   ENSP00000432302   ENSP00000434684   ENSP00000354689  
 ENSP00000346956   ENSP00000432499   ENSP00000435076   ENSP00000437186  

SLC39A13 Human Recombinant Protein Products:

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Novus Biologicals SLC39A13 Lysates
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Cloud-Clone Corp. Proteins for SLC39A13

 
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SLC39A13 Assay Products:

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:
SLC: Solute carriers

IUPHAR Guide to PHARMACOLOGY protein family classification: Zinc transporter 13
SLC39 family of metal ion transporters

1 InterPro protein domain:
 IPR003689 ZIP

Graphical View of Domain Structure for InterPro Entry Q96H72

ProtoNet protein and cluster: Q96H72

1 Blocks protein domain: IPB003689 Zinc transporter ZIP

UniProtKB/Swiss-Prot: S39AD_HUMAN, Q96H72
Similarity: Belongs to the ZIP transporter (TC 2.A.5) family


Find genes that share domains with SLC39A13           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: S39AD_HUMAN, Q96H72
Function: Acts as a zinc-influx transporter

     Gene Ontology (GO): 3 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005385zinc ion transmembrane transporter activity IDA--
GO:0042803protein homodimerization activity IPI--
GO:0046873metal ion transmembrane transporter activity ----
     
Find genes that share ontologies with SLC39A13           About GenesLikeMe


Phenotypes:
     2 GenomeRNAi human phenotypes for SLC39A13:
 Decreased cell number  Increased cell size 

     5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Slc39a13):
 craniofacial  growth/size/body  integument  skeleton  vision/eye 

Find genes that share phenotypes with SLC39A13           About GenesLikeMe

Animal Models:
     MGI mouse knock-out Slc39a13tm1Thir for SLC39A13

   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SLC39A13
   inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SLC39A13

   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SLC39A13
   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SLC39A13

miRNA
Products:
    
miRTarBase miRNAs that target SLC39A13:
hsa-mir-484 (MIRT042304)

Block miRNA regulation of human, mouse, rat SLC39A13 using miScript Target Protectors
Selected qRT-PCR Assays for microRNAs that regulate SLC39A13 (see all 26):
hsa-miR-4291 hsa-miR-125a-5p hsa-miR-137 hsa-miR-1271 hsa-miR-128 hsa-miR-9 hsa-miR-125b hsa-miR-558
SwitchGear 3'UTR luciferase reporter plasmidSLC39A13 3' UTR sequence
Inhib. RNA
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OriGene RNAi products in human, mouse, rat for SLC39A13
Predesigned siRNA for gene silencing in human, mouse, rat SLC39A13

Gene Editing
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GenScript: all cDNA clones in your preferred vector (see all 2): SLC39A13 (NM_001128225)
Browse Sino Biological Human cDNA Clones
DNA2.0 Custom Codon Optimized Gene Synthesis Service for SLC39A13
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SLC39A13

Cell Line
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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC39A13


(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
S39AD_HUMAN, Q96H72: Golgi apparatus membrane; Multi-pass membrane protein
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
golgi apparatus5
plasma membrane3
cytosol1
endoplasmic reticulum1

Gene Ontology (GO): 5 cellular component terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005794Golgi apparatus ISS18985159
GO:0016020membrane ----
GO:0016021integral component of membrane IDA--
GO:0030173integral component of Golgi membrane IC--
GO:0048471perinuclear region of cytoplasm ISS18985159

Find genes that share ontologies with SLC39A13           About GenesLikeMe


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SLC39A13
Interactions:

    Search GeneGlobe Interaction Network for SLC39A13

Gene Ontology (GO): 5 biological process terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006882cellular zinc ion homeostasis ISS18985159
GO:0030001metal ion transport ----
GO:0055085transmembrane transport ----
GO:0061448connective tissue development IMP18985159
GO:0071577zinc ion transmembrane transport ISS18985159

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for SLC39A13 (S39AD)



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for SLC39A13 gene (2 alternative transcripts): 
NM_001128225.2  NM_152264.4  

Unigene Cluster for SLC39A13:

Solute carrier family 39 (zinc transporter), member 13
Hs.523664  [show with all ESTs]
Unigene Representative Sequence: NM_001128225
13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000533076(uc001nfe.1) ENST00000531974 ENST00000531419 ENST00000531865
ENST00000362021(uc009ylq.3) ENST00000354884(uc001nff.4) ENST00000526614
ENST00000527091 ENST00000524928(uc001nfd.3) ENST00000529740 ENST00000528979
ENST00000527829 ENST00000524886
miRNA
Products:
     
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Selected qRT-PCR Assays for microRNAs that regulate SLC39A13 (see all 26):
hsa-miR-4291 hsa-miR-125a-5p hsa-miR-137 hsa-miR-1271 hsa-miR-128 hsa-miR-9 hsa-miR-125b hsa-miR-558
SwitchGear 3'UTR luciferase reporter plasmidSLC39A13 3' UTR sequence
Inhib. RNA
Products:
     
OriGene RNAi products in human, mouse, rat for SLC39A13
Predesigned siRNA for gene silencing in human, mouse, rat SLC39A13
Clone
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OriGene clones in human, mouse for SLC39A13 (see all 13)
OriGene ORF clones in mouse, rat for SLC39A13
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector (see all 2): SLC39A13 (NM_001128225)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for SLC39A13
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SLC39A13
Primer
Products:
    
OriGene qPCR primer pairs and template standards for SLC39A13
OriGene qSTAR qPCR primer pairs in human, mouse for SLC39A13
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SLC39A13
  QuantiTect SYBR Green Assays in human, mouse, rat SLC39A13
  QuantiFast Probe-based Assays in human, mouse, rat SLC39A13

Additional mRNA sequence: 

AK098651.1 AL133581.1 BC008853.2 BC019016.2 

14 DOTS entries:

DT.317246  DT.100781116  DT.95201096  DT.100713580  DT.95245440  DT.92433209  DT.97816982  DT.120711245 
DT.97845920  DT.100028197  DT.120711237  DT.95201097  DT.95344455  DT.97810700 

Selected AceView cDNA sequences (see all 252):

AW339212 AA427824 BQ575937 AI282915 AW193005 AL556455 BU626897 AI090554 
BQ063213 BF476178 AW768731 AK098651 BX440504 CA448198 BQ184242 BQ014654 
CR601409 AI831497 AI147736 BU624675 CN478991 BI918365 BM664945 CR605826 

GeneLoc Exon Structure

Selected Alternative Splicing Database (ASD) splice patterns (SP) for SLC39A13 (see all 14)    About this scheme

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14a · 14b · 14c ^ 15a · 15b ·
SP1:        -     -     -     -     -                             -                             -     -     -                       -                           
SP2:                    -     -     -                             -                             -     -     -                                                   
SP3:                    -     -                                   -                             -     -     -                       -                           
SP4:                                                              -                 -           -     -     -                       -                           
SP5:                    -     -     -                             -                 -                                                                           

ExUns: 15c ^ 16
SP1:  -         
SP2:            
SP3:            
SP4:            
SP5:            


ECgene alternative splicing isoforms for SLC39A13

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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SLC39A13 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: CTGTGGTTAC
SLC39A13 Expression
About this image

SLC39A13 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

SLC39A13 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.523664
    Custom PCR Arrays for SLC39A13
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC39A13

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of animals and fungi.

Orthologs for SLC39A13 gene from Selected species (see all 17)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Slc39a131 , 5 solute carrier family 39 (metal ion transporter), member more1, 5 87.53(n)1
90.3(a)1
  2 (50.44 cM)5
684271  NM_026721.21  NP_080997.11 
 910617915 
chicken
(Gallus gallus)
Aves SLC39A131 solute carrier family 39 (zinc transporter), member more 69.25(n)
73.29(a)
  423183  NM_001008471.1  NP_001008471.1 
lizard
(Anolis carolinensis)
Reptilia SLC39A136
solute carrier family 39 (zinc transporter), membe...
65(a)
1 ↔ 1
1(44119360-44144487)
tropical clawed frog
(Xenopus tropicalis)
Amphibia slc39a131 solute carrier family 39 (zinc transporter), member more 64.42(n)
69.36(a)
  100494023  XM_002942061.2  XP_002942107.2 
zebrafish
(Danio rerio)
Actinopterygii wufa55a072 Transcribed sequence with weak similarity to protein more 71.76(n)    57045391 
fruit fly
(Drosophila melanogaster)
Insecta CG78161 CG7816 55.16(n)
53.52(a)
  43533  NM_170445.2  NP_733324.1 
worm
(Caenorhabditis elegans)
Secernentea C14H10.11 C14H10.1 49.5(n)
45.9(a)
  181233  NM_077318.5  NP_509719.2 
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YKE46
Zinc transporter; localizes to the ER; null mutant...
23(a)
1 → many
IX(309386-310426) YIL023C


ENSEMBL Gene Tree for SLC39A13 (if available)
TreeFam Gene Tree for SLC39A13 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for SLC39A13 gene
SLC39A102  SLC39A52  SLC39A82  SLC39A62  SLC39A122  SLC39A42  SLC39A142  SLC39A72  

Find genes that share paralogs with SLC39A13           About GenesLikeMe



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for SLC39A13 (see all 258)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 11 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1214343631,2
Cpathogenic147431866(+) CCTGGG/ATTCCC 4 /D /G mis11Minor allele frequency- A:0.00EU 1319
rs116062481,2
H--47428114(+) AAAAAA/TAAAAA 2 -- us2k10--------
rs734577271,2
C,F--47428175(+) CTGGAC/AACCCC 2 -- us2k11Minor allele frequency- A:0.50WA 2
rs2000311571,2
--47428209(+) TTTTT-/TATTTTT 2 -- us2k10--------
rs110392221,2
C--47428210(+) TTTTTA/TTTTTT 2 -- us2k10--------
rs680109381,2
C--47428210(+) TTTTT-/ATTTTT 2 -- us2k11Minor allele frequency- A:0.50NA 2
rs1866488131,2
--47428304(+) GGGTTC/GAAGCA 2 -- us2k10--------
rs1427543911,2
--47428352(+) AGGTGC/GGCACC 2 -- us2k10--------
rs108387071,2
C,A--47428369(+) CCTGAC/TTAATT 2 -- us2k14Minor allele frequency- T:0.07CSA WA NA EA 360
rs47529991,2
C,F,A,H--47428565(+) AGTAAC/TGTTTC 2 -- us2k121Minor allele frequency- T:0.26NS EA NA WA CSA 2346

HapMap Linkage Disequilibrium report for SLC39A13 (47428683 - 47438051 bp)

Structural Variations
     Database of Genomic Variants (DGV) 4 variations for SLC39A13:    About this table    
Variant IDTypeSubtypePubMed ID
nsv897323CNV Loss21882294
nsv897325CNV Loss21882294
nsv832141CNV Loss17160897
nsv825871CNV Gain20364138

Human Gene Mutation Database (HGMD): SLC39A13
Site Specific Mutation Identification with PCR Assays
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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 608735   
OMIM disorders: 612350  
UniProtKB/Swiss-Prot: S39AD_HUMAN, Q96H72
  • Ehlers-Danlos syndrome-like spondylocheirodysplasia (SCD-EDS) [MIM:612350]: Spondylocheiro dysplastic
    form of Ehlers-Danlos syndrome. The syndrome consists of a generalized skeletal dysplasia involving mainly the
    spine (spondylo) and striking clinical abnormalities of the hands (cheiro) in addition to the EDS-like features.
    Clinical features included postnatal growth retardation, moderate short stature, protuberant eyes with bluish
    sclerae, hands with finely wrinkled palms, atrophy of the thenar muscles, and tapering fingers. Patients have
    thin, hyperelastic skin and hypermobile small joints consistent with an Ehlers-Danlos-like phenotype. Radiologic
    features included mild to moderate platyspondyly, mild to moderate osteopenia of the spine, small ileum, flat
    proximal femoral epiphyses, short, wide femoral necks, and broad metaphyses (elbows, knees, wrists, and
    interphalangeal joints). Note=The disease is caused by mutations affecting the gene represented in this entry

  • 2 diseases for SLC39A13:    
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    spondylocheirodysplasia, ehlers-danlos syndrome-like    tricuspid valve insufficiency

    1 disease from the University of Copenhagen DISEASES database for SLC39A13:
    Ehlers-Danlos syndrome

    Find genes that share disorders with SLC39A13           About GenesLikeMe

    Genetic Association Database (GAD): SLC39A13
    Human Genome Epidemiology (HuGE) Navigator: SLC39A13 (1 document)

    Export disorders for SLC39A13 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for SLC39A13 gene, integrated from 10 sources (see all 13):
    (articles sorted by number of sources associating them with SLC39A13)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Biochemical characterization of human ZIP13 protein: a homo-dimerized zinc transporter involved in the spondylocheiro dysplastic Ehlers- Danlos syndrome. (PubMed id 21917916)1, 2 Bin B.H.... Hirano T. (J. Biol. Chem. 2011)
    2. Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome -- an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13. (PubMed id 18513683)1, 2 Giunta C....Steinmann B. (Am. J. Hum. Genet. 2008)
    3. Polymorphisms in mitochondrial genes and prostate cancer risk. (PubMed id 19064571)1, 4 Wang L....Thibodeau S.N. (amp 2008)
    4. The LZT proteins; the LIV-1 subfamily of zinc transporters. (PubMed id 12659941)1, 3 Taylor K.M. and Nicholson R.I. (Biochim. Biophys. Acta 2003)
    5. Promotion of vesicular zinc efflux by ZIP13 and its implications for spondylocheiro dysplastic Ehlers-Danlos syndrome. (PubMed id 23213233)1 Jeong J....Eide D.J. (Proc. Natl. Acad. Sci. U.S.A. 2012)
    6. Mutational analysis of 12 patients with the phenotype of Ehlers-Danlos syndrome type VIB shows no linkage to the zinc transporter gene SLC39A13. (PubMed id 21739577)1 Walker L.C....Yeowell H.N. (Am. J. Med. Genet. A 2011)
    7. The zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-beta signaling pathways. (PubMed id 18985159)1 Fukada T....Hirano T. (PLoS ONE 2008)
    8. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (BMC Genomics 2007)
    9. Human chromosome 11 DNA sequence and analysis including novel gene identification. (PubMed id 16554811)2 Taylor T.D....Sakaki Y. (Nature 2006)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 91252 HGNC: 20859 AceView: SLC39A13 Ensembl:ENSG00000165915 euGenes: HUgn91252
    ECgene: SLC39A13 H-InvDB: SLC39A13

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SLC39A13 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SLC39A13 gene:
    Search GeneIP for patents involving SLC39A13

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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