HPS4 Gene
protein-coding GIFtS: 54
GCID: GC22M026840
|
|
Hermansky-Pudlak syndrome 4
| |
Aliases
for HPS4 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Hermansky-Pudlak Syndrome 41 2 | | LE1 2 | | KIAA16671 3 | | Light-Ear Protein Homolog2 3 | | Hermansky-Pudlak Syndrome 4 Protein2 |
Export aliases for HPS4 gene to outside databasesPrevious GC identifers: GC22M023544 GC22M025172 GC22M025177 GC22M009795 |
Summaries
for HPS4 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 HPS4:
This gene encodes a protein component of biogenesis of lysosome-related organelles complexes (BLOC). BLOC complexes areimportant for the formation of endosomal-lysosomal organelles such as melanosomes and platelet dense granules.Mutations in this gene result in subtype 4 of Hermansky-Pudlak syndrome, a form of albinism. Alternative splicingresults in multiple transcript variants. (provided by RefSeq, Aug 2012)
UniProtKB/Swiss-Prot: HPS4_HUMAN, Q9NQG7Function: May function in the pathway of organelle biogenesis
Gene Wiki entry for HPS4
|
Genomic Views
for HPS4 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_000022.10 NC_018933.1 NT_011520.12
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the HPS4 gene promoter:
COUP-TF1 COUP-TF STAT3 COUP HNF-4alpha2 HNF-4alpha1
Other transcription factors
Search SABiosciences Chromatin IP Primers for HPS4
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HPS4 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 22cen-q12.3 Ensembl cytogenetic band: 22q12.1 HGNC cytogenetic band: 22cen-q12.3HPS4 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 22 GeneLoc Exon Structure GeneLoc location for GC22M026840: view genomic region
(about GC identifiers)
Start:
|
26,839,389 bp from pter |
End:
|
26,879,820 bp from pter |
Size:
|
40,432 bases |
Orientation:
|
minus strand |
|
Proteins
for HPS4 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: HPS4_HUMAN, Q9NQG7 (See
protein sequence)Recommended Name: Hermansky-Pudlak syndrome 4 protein Size: 708 amino acids; 76919 Da
Sequence caution: Sequence=BAB33337.1; Type=Frameshift; Positions=237; Sequence=BAB33337.1; Type=Miscellaneousdiscrepancy; Note=Intron retention; Sequence=BC035614; Type=Miscellaneous discrepancy; Note=Intron retention;
Secondary accessions: B1AHQ4 Q5H8V6 Q96LX6 Q9BY93 Q9UH37 Q9UH38Alternative splicing: 4 isoforms: Q9NQG7-1 Q9NQG7-2 Q9NQG7-3 Q9NQG7-4 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for HPS4: NX_Q9NQG7
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9NQG7
HPS4 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_071364.4 NP_690054.1
ENSEMBL proteins: ENSP00000381213 ENSP00000399705 ENSP00000430291 ENSP00000384185 ENSP00000338457 ENSP00000406764 ENSP00000415081 ENSP00000381210
Human Recombinant Protein Products:
Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7): About this table
HPS4 for ontologies About GeneDecksing
HPS4 Antibody Products:
Assay Products for HPS4: |
Protein
Domains /
Families
for HPS4 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
HPS4 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q9NQG7ProtoNet protein and cluster: Q9NQG7 |
Function
for HPS4 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: HPS4_HUMAN, Q9NQG7Function: May function in the pathway of organelle biogenesis
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HPS4 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HPS4 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 2): HPS4 (NM_152841) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for HPS4 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HPS4 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HPS4 |
Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table
HPS4 for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for HPS4:
Animal Models:
10 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Hps4):
HPS4 for phenotypes About GeneDecksing
|
Pathways & Interactions
for HPS4 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:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for HPS4
STRING Interaction
Network Preview (showing 2 interactants - click image to see more details)
4 Interacting proteins for HPS4 (Q9NQG71, 3 ENSP000003384574) via UniProtKB, MINT, STRING, and/or I2DAbout this table
Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8): About this table
HPS4 for ontologies About GeneDecksing
|
Drugs & Compounds
for HPS4 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 HPS4
Search CenterWatch for drugs/clinical trials and news about HPS4
|
Transcripts
for HPS4 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 HPS4 gene (5 alternative transcripts): NM_022081.5 NM_152841.2 NM_152840.1 NM_152842.1 NM_152843.1 Unigene Cluster for HPS4: Hermansky-Pudlak syndrome 4 Hs.474436 [show with all ESTs]Unigene Representative Sequence: NR_07313518/20 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20): ENST00000519774 ENST00000493455 ENST00000491142 ENST00000398145(uc003acl.3 uc003acn.3)
ENST00000429411 ENST00000464362(uc003ach.3) ENST00000402105 ENST00000336873
ENST00000439453 ENST00000466781(uc003ack.3 uc010gvd.1) ENST00000496385
ENST00000485842 ENST00000522475 ENST00000422379 ENST00000459918 ENST00000481910(uc003aco.1)
ENST00000483631 ENST00000479064
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HPS4 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HPS4 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 2): HPS4 (NM_152841) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for HPS4 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HPS4 |
Additional cDNA sequence: AK054717.1 AK057648.1 AK095406.1 AK097529.1 AK123691.1 AK290211.1 AL365512.1 AL713795.1 AY043416.1 BC028625.1 BC035614.1 BC050285.1 BC065030.1 CR456392.1 NR_073135.1 NR_073136.1 23 DOTS entries: DT.100732145 DT.75120241 DT.100785566 DT.100785567 DT.100785565 DT.120665885 DT.100773633 DT.91742410 DT.100785568 DT.408739 DT.91874162 DT.95353765 DT.97840582 DT.101975758 DT.40125143 DT.120665936 DT.91742414 DT.95156232 DT.97840583 DT.120665933 DT.312064 DT.91742411 DT.120665922 24/268 AceView cDNA sequences (see all 268): BE550121 Z40194 AI758719 BC065030 BG575559 BQ181153 BU786097 AI695887 AA668521 CK429971 BM557146 BU617290 AA356313 AA550810 AY043416 CD300278 BQ787594 BQ272169 NM_022081 BX328460 BM696944 BU619987 AA558197 BQ582130
GeneLoc Exon Structure
5/12 Alternative Splicing Database (ASD) splice patterns (SP) for HPS4 (see all 12) About this scheme
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | · | 1f | · | 1g | ^ | 2 | ^ | 3a | · | 3b | · | 3c | ^ | 4a | · | 4b | · | 4c | · | 4d | · | 4e | · | 4f | ^ | 5 | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ |
|---|
|
| SP1: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | | | | | | | - | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | | | | | | | - | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | | | | | | | - | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | | | | | - | |
| ExUns: | 12 | ^ | 13 | ^ | 14a | · | 14b | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19a | · | 19b | · | 19c | ^ | 20 |
|---|
|
| SP1: | - | | | | | | | | | | | | - | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | - | | | | | | | | | | | | |
| SP4: | | | | | | | | | - | | - | | - | | | | | | | | | | | | |
| SP5: | - | | - | | - | | - | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for HPS4
|
Expression
for HPS4 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
| HPS4 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TCAGTGAACT
About this image
See HPS4 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for HPS4
SOURCE GeneReport for Unigene cluster: Hs.474436
SABiosciences Custom PCR Arrays for HPS4
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for HPS4
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat HPS4 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HPS4 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HPS4 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HPS4 |
Orthologs
for HPS4 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 animals.
Orthologs for HPS4 gene from 5/13 species (see all 13) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
mouse
(Mus musculus) |
Mammalia |
Hps41 , 5 |
Hermansky-Pudlak syndrome 4 homolog (human)1, 5 |
72.26(n)1
65.82(a)1 |
|
5 (54.69 cM)5
1922321 NM_138646.31 NP_619587.31
1123430835 |
chicken
(Gallus gallus) |
Aves |
HPS41 |
Hermansky-Pudlak syndrome 4 |
63.3(n)
59.92(a) |
|
416907 XM_415198.2 XP_415198.2 |
African clawed frog
(Xenopus laevis) |
Amphibia |
BJ093780.12 |
-- |
71.93(n) |
|
BJ093780.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
BC052117.12 |
-- |
74.33(n) |
|
393296 BC052117.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
HPS46 |
Hermansky-Pudlak Syndrome 4 ortholog |
14(a) |
1 ↔ 1 |
2R(13571102-13578327) |
ENSEMBL Gene Tree for HPS4 (if available)
TreeFam Gene Tree for HPS4 (if available) |
Paralogs
for HPS4 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for HPS4 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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 22 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for HPS4 (26839389 - 26879820 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for HPS4: --
Human Gene Mutation Database (HGMD): HPS4
Locus Specific Mutation Databases (LSDB): HPS4
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing HPS4 |
|
Disorders
/ Diseases
for HPS4 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
|
HPS4 for disorders About GeneDecksing
OMIM gene information: 606682
OMIM disorders: 203300
UniProtKB/Swiss-Prot: HPS4_HUMAN, Q9NQG7
Defects in HPS4 are the cause of Hermansky-Pudlak syndrome type 4 (HPS4) [MIM:614073]. Hermansky-Pudlaksyndrome (HPS) is a genetically heterogeneous, rare, autosomal recessive disorder characterized by oculocutaneousalbinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results fromdefects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storagein the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS
11  diseases for HPS4: About MalaCardshermansky-pudlak syndrome hermansky-pudlak syndrome 4 albinism platelet storage pool deficiency
hermansky-pudlak syndrome 1 oculocutaneous albinism ocular albinism intestinal disease
pulmonary fibrosis crohn's disease fibrosis
4 diseases from the University of Copenhagen DISEASES database for HPS4:Hermansky-Pudlak syndrome Oculocutaneous albinism Platelet storage pool deficiency Pulmonary fibrosis 1 Novoseek disease relationship for HPS4 gene About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| hermansky-pudlak syndrome |
95 |
3 |
11836498 (1), 12756248 (1), 18326704 (1) |
GeneTests: HPS4
Hermansky-Pudlak Syndrome
Human Genome Epidemiology (HuGE) Navigator: HPS4 (2 documents)
Export disorders for HPS4 gene to outside databases
|
Publications
for HPS4 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 HPS4 gene, integrated from 9 sources (see all 33):
(articles sorted by number of sources associating them with HPS4) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene. (PubMed id 11836498)1, 2, 3, 9 Suzuki T.... Spritz R.A. (2002)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- The Hermansky-Pudlak syndrome 1 (HPS1) and HPS4 proteins are components of two complexes, BLOC-3 and BLOC-4, involved in the biogenesis of lysosome-related organelles. (PubMed id 12663659)1, 3 Chiang P.W....Spritz R.A. (2003)
- Reevaluating human gene annotation: a second-generation analysis of chromosome 22. (PubMed id 12529303)1, 2 Collins J.E.... Dunham I. (2003)
- Identification of novel transcribed sequences on human chromosome 22 by expressed sequence tag mapping. (PubMed id 11258795)1, 2 Hirosawa M....Ohara O. (2001)
- The DNA sequence of human chromosome 22. (PubMed id 10591208)1, 2 Dunham I....O'Brien K.P. (1999)
- BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4. (PubMed id 12756248)1, 9 Martina J.A....Bonifacino J.S. (2003)
- Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics. (PubMed id 12664304)1, 9 Anderson P.D....Gahl W.A. (2003)
- Comprehensive Analysis of Oculocutaneous Albinism among Non-Hispanic Caucasians Shows that OCA1 Is the Most Prevalent OCA Type. (PubMed id 18463683)1, 9 Hutton S.M. and Spritz R.A. (2008)
|
External Searches for HPS4 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing HPS4 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing HPS4 gene
(According to HUGE)
About This Section
| |
Specialized Databases showing HPS4 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 HPS4 | Pharmacogenomics, SNPs, Pathways | | Mutations of the HPS4 gene | http://www.retina-international.org/files/sci-news/lemut.htm | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HPS4 |
|
| | |
About This Section
| Patent Information for HPS4 gene:
Search GeneIP for patents involving HPS4
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for HPS4 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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| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for HPS4 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HPS4 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for HPS4 | | | OriGene Protein Over-expression Lysate for HPS4 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for HPS4 | | OriGene 3'-UTR Clone for HPS4 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HPS4 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HPS4 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | OriGene Purified Protein for HPS4 | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for HPS4 | | OriGene Custom Protein Services for HPS4 | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat HPS4 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing HPS4 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HPS4 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HPS4 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HPS4 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HPS4 |
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| | | | Search Tocris compounds for HPS4 |
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 | | | HPS4 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HPS4 |
|  |  |  | | | | Search ThermoFisher Antibodies for HPS4 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HPS4 |
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