SLC45A2 Gene
protein-coding GIFtS: 52
GCID: GC05M033981
|
|
solute carrier family 45, member 2(Previous name: membrane associated transporter )
(Previous symbol: MATP)
| |
Aliases
for SLC45A2 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Solute Carrier Family 45, Member 21 2 | | SHEP52 5 | | MATP1 2 3 5 | | AIM-11 | | AIM12 3 5 | | 1A12 | | Membrane Associated Transporter1 2 | | Membrane-Associated Transporter Protein2 | | Melanoma Antigen AIM12 3 | | Underwhite1 | | Protein AIM-12 3 | | Solute Carrier Family 45 Member 23 |
Export aliases for SLC45A2 gene to outside databases |
Summaries
for SLC45A2 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for SLC45A2:
This gene encodes a transporter protein that mediates melanin synthesis. The protein is expressed in a high percentageof melanoma cell lines. Mutations in this gene are a cause of oculocutaneous albinism type 4, and polymorphisms inthis gene are associated with variations in skin and hair color. Multiple transcript variants encoding differentisoforms have been found for this gene. (provided by RefSeq, Mar 2009)
UniProtKB/Swiss-Prot: S45A2_HUMAN, Q9UMX9Function: Melanocyte differentiation antigen. May transport substances required for melanin biosynthesis (Bysimilarity)
Gene Wiki entry for SLC45A2
|
Genomic Views
for SLC45A2 gene
(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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000005.9 NC_018916.1 NT_006576.16
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the SLC45A2 gene promoter:
Sp1 SREBP-1c CBF-C SREBP-1b SREBP-1a CBF-B CBF-A CP1A CBF(2)
Other transcription factors
Search SABiosciences Chromatin IP Primers for SLC45A2
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC45A2 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 5p13.2 Ensembl cytogenetic band: 5p13.2 HGNC cytogenetic band: 5p13.3SLC45A2 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 5 GeneLoc Exon Structure GeneLoc location for GC05M033981: view genomic region
(about GC identifiers)
Start:
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33,944,721 bp from pter |
End:
|
33,984,835 bp from pter |
Size:
|
40,115 bases |
Orientation:
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minus strand |
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Proteins
for SLC45A2 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: S45A2_HUMAN, Q9UMX9 (See
protein sequence)Recommended Name: Membrane-associated transporter protein Size: 530 amino acids; 58268 Da
Subcellular location: Melanosome membrane; Multi-pass membrane protein
Sequence caution: Sequence=AAH03597.1; Type=Frameshift; Positions=188;
Secondary accessions: Q6P2P0 Q9BTM3Alternative splicing: 4 isoforms: Q9UMX9-1 Q9UMX9-2 Q9UMX9-3 Q9UMX9-4 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for SLC45A2: NX_Q9UMX9
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9UMX9
SLC45A2 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_001012527.1 NP_057264.3
ENSEMBL proteins: ENSP00000296589 ENSP00000371534 ENSP00000424010 ENSP00000421100 ENSP00000341014 ENSP00000340444
Human Recombinant Protein Products:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0016021 | integral to membrane |
IEA | -- | | GO:0033162 | melanosome membrane |
IEA | -- |
SLC45A2 for ontologies About GeneDecksing
SLC45A2 Antibody Products:
Assay Products for SLC45A2: |
Protein
Domains /
Families
for SLC45A2 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
SLC45A2 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q9UMX9ProtoNet protein and cluster: Q9UMX9 UniProtKB/Swiss-Prot: S45A2_HUMAN, Q9UMX9Similarity: Belongs to the glycoside-pentoside-hexuronide (GPH) cation symporter transporter (TC 2.A.2) family |
Function
for SLC45A2 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: S45A2_HUMAN, Q9UMX9Function: Melanocyte differentiation antigen. May transport substances required for melanin biosynthesis (Bysimilarity)
Clone
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OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SLC45A2 (see all 4)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC45A2 |
Animal Models:
7 MGI mutant phenotypes (inferred from 17 alleles ) (MGI details for Slc45a2):
SLC45A2 for phenotypes About GeneDecksing
|
Pathways & Interactions
for SLC45A2 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
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 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SLC45A2
Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table
SLC45A2 for ontologies About GeneDecksing
|
Drugs & Compounds
for SLC45A2 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for SLC45A2
Search CenterWatch for drugs/clinical trials and news about SLC45A2 / S45A2
|
Transcripts
for SLC45A2 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 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,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for SLC45A2 gene (2 alternative transcripts): NM_001012509.2 NM_016180.3 Unigene Cluster for SLC45A2: Solute carrier family 45, member 2 Hs.278962 [show with all ESTs]Unigene Representative Sequence: NM_0010125097 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000296589(uc003jid.3) ENST00000382102(uc003jie.3) ENST00000510600
ENST00000509381(uc003jif.4) ENST00000505056 ENST00000342059 ENST00000345083(uc011coe.1)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SLC45A2 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SLC45A2 (see all 4)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
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Synthesis Service for SLC45A2 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SLC45A2 |
Additional cDNA sequence: AF172849.1 BC003597.1 BC064405.1 5 DOTS entries: DT.100009858 DT.97810206 DT.92418433 DT.92418432 DT.75182601 24/70 AceView cDNA sequences (see all 70): BU839037 BQ677908 BQ894058 BU194436 BQ678442 BQ676555 BU179292 BQ679448 BQ677464 BU838274 BQ680375 BU184927 BU179462 N27920 BQ675907 BQ682447 BQ421552 BQ877593 BQ677454 BQ676017 BU177731 BU179110 BC003597 BU168577
GeneLoc Exon Structure
5 Alternative Splicing Database (ASD) splice patterns (SP) for SLC45A2 About this scheme
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | ^ | 7 |
|---|
|
| SP1: | | | | | | | | | | | | | | | - | | | | | | | | |
| SP2: | | | | | | | - | | - | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | - | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for SLC45A2
|
Expression
for SLC45A2 gene
(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™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| SLC45A2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GTGTTGGGGG
About this image
See SLC45A2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SLC45A2
SOURCE GeneReport for Unigene cluster: Hs.278962
UniProtKB/Swiss-Prot: S45A2_HUMAN, Q9UMX9Tissue specificity: Expressed in most melanoma cell lines and melanocytes
SABiosciences Custom PCR Arrays for SLC45A2
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SLC45A2
Browse OriGene validated miRNA SYBR primer pairs
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Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC45A2 |
Orthologs
for SLC45A2 gene
(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)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for SLC45A2 gene from 8/24 species (see all 24) About this table
ENSEMBL Gene Tree for SLC45A2 (if available)
TreeFam Gene Tree for SLC45A2 (if available) |
Paralogs
for SLC45A2 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for SLC45A2 gene
- SLC45A12 SLC45A42 SLC45A32
1 SIMAP similar gene for SLC45A2 using alignment to 4 protein entries: S45A2_HUMAN (see all proteins):SLC45A4
SLC45A2 for paralogs About GeneDecksing
|
Genomic Variants
for SLC45A2 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
UniProtKB/Swiss-Prot: S45A2_HUMAN, Q9UMX9Polymorphism: Genetic variants in SLC45A2 define the skin/hair/eye pigmentation variation locus 5 (SHEP5) [MIM:227240].Hair, eye and skin pigmentation are among the most visible examples of human phenotypic variation, with a broad normalrange that is subject to substantial geographic stratification. In the case of skin, individuals tend to have lighterpigmentation with increasing distance from the equator. By contrast, the majority of variation in human eye and haircolor is found among individuals of European ancestry, with most other human populations fixed for brown eyes andblack hair
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 5 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for SLC45A2 (33944721 - 33984835 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for SLC45A2
1 Indel: 11254
Human Gene Mutation Database (HGMD): SLC45A2
Locus Specific Mutation Databases (LSDB): SLC45A2
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SLC45A2 |
|
Disorders
/ Diseases
for SLC45A2 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
SLC45A2 for disorders About GeneDecksing
OMIM gene information: 606202
OMIM disorders: 606574 227240
UniProtKB/Swiss-Prot: S45A2_HUMAN, Q9UMX9
Defects in SLC45A2 are the cause of albinism oculocutaneous type 4 (OCA4) [MIM:606574]. A disorder ofpigmentation characterized by reduced biosynthesis of melanin in the skin, hair and eyes. Patients show reduced orlacking pigmentation associated with classic albinism ocular abnormalities, including decreased visual acuity, macularhypoplasia, optic dysplasia, atypical choroidal vessels, and nystagmus
17  diseases for SLC45A2: About MalaCardsskin/hair/eye pigmentation 5, black/nonblack hair skin/hair/eye pigmentation 5, dark/light eyes skin/hair/eye pigmentation 5, dark/fair skin oculocutaneous albinism
oculocutaneous albinism type 4 albinism melanoma oculocutaneous albinism type 1
ocular albinism cutaneous malignant melanoma congenital nystagmus nystagmus
basal cell carcinoma neutropenia skin cancer choroiditis
carcinoma
2 diseases from the University of Copenhagen DISEASES database for SLC45A2:Oculocutaneous albinism Ocular albinism 3 Novoseek disease relationships for SLC45A2 gene About this table
GeneTests: SLC45A2
Oculocutaneous Albinism Type 4
Genetic Association Database (GAD): SLC45A2
Human Genome Epidemiology (HuGE) Navigator: SLC45A2 (24 documents)
Export disorders for SLC45A2 gene to outside databases
|
Publications
for SLC45A2 gene (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)
About This Section
|
PubMed articles for SLC45A2 gene, integrated from 9 sources (see all 64):
(articles sorted by number of sources associating them with SLC45A2) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Single nucleotide polymorphisms in the MATP gene are associated with normal human pigmentation variation. (PubMed id 15714523)1, 2, 4, 9 Graf J.... van Daal A. (2005)
- Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4. (PubMed id 14722913)1, 2, 4, 9 Rundshagen U....Kaesmann-Kellner B. (2004)
- Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4. (PubMed id 11574907)1, 2, 3, 9 Newton J.M.... Brilliant M.H. (2001)
- MATP polymorphisms in Germans and Japanese: the L374F mutation as a population marker for Caucasoids. (PubMed id 15455243)1, 2, 4 Yuasa I.... Irizawa Y. (2004)
- SLC45A2 variations in Indian oculocutaneous albinism patients. (PubMed id 17768386)1, 2, 9 Sengupta M....Ray K. (2007)
- Distribution of the F374 allele of the SLC45A2 (MATP) gene and founder-haplotype analysis. (PubMed id 17044855)1, 2, 9 Yuasa I....Henke J. (2006)
- Distinctive distribution of AIM1 polymorphism among major human populations with different skin color. (PubMed id 11916009)1, 3, 9 Nakayama K....Ishida T. (2002)
- Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan. (PubMed id 14961451)1, 2, 9 Inagaki K.... Tomita Y. (2004)
- A Korean case of oculocutaneous albinism type IV caused by a D157N mutation in the MATP gene. (PubMed id 15656822)1, 2, 9 Suzuki T.... Tomita Y. (2005)
- A genomewide association study of skin pigmentation in a South Asian population. (PubMed id 17999355)1, 2, 9 Stokowski R.P....Cox D.R. (2007)
|
External Searches for SLC45A2 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing SLC45A2 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing SLC45A2 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing SLC45A2 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for SLC45A2 | Pharmacogenomics, SNPs, Pathways | | ATLAS Chromosomes in Cancer entry for SLC45A2 | Genetics and Cytogenetics in Oncology and Haematology | | Mutations of the MATP gene | http://www.retina-international.org/files/sci-news/matpmut.htm | | Albinism database (ADB) | http://albinismdb.med.umn.edu/oca4mut.html | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SLC45A2 |
|
| | |
About This Section
| Patent Information for SLC45A2 gene:
Search GeneIP for patents involving SLC45A2
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for SLC45A2 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
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| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC45A2 |
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