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HPS4 Gene

protein-coding GIFtS: 56

GC22M025177

Hermansky-Pudlak syndrome 4
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
About This Section

Aliases
KIAA1667 ^¹, ², ³
LE ^¹, ²
OTTHUMP00000028717 ^²
bK1048E9.4 ^²
bK1048E9.5 ^²

Descriptions
Hermansky-Pudlak syndrome 4 ^²
Light-ear protein homolog ^³
light ear protein ^²

External Ids
HGNC: 15844¹
Entrez Gene: 89781²
UniProtKB: Q9NQG7³
Ensembl: ENSG00000100099⁷

Search outside databases for aliases for HPS4 gene

Previous GC identifers: GC22M023544 GC22M025172

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene summary for HPS4:

Hermansky-Pudlak syndrome is a disorder of organelle biogenesis in which oculocutaneous albinism,

bleeding, and pulmonary fibrosis result from defects of melanosomes, platelet dense granules, and

lysosomes. Mutations in this gene as well as several others can cause this syndrome. The protein

encoded by this gene appears to be important in organelle biogenesis and is similar to the mouse

'light ear' protein. Multiple transcript variants encoding different isoforms have been

found for this gene. [provided by RefSeq]

UniProtKB/Swiss-Prot: HPS4_HUMAN, Q9NQG7

Function: May function in the pathway of organelle biogenesis

Gene Wiki entry for HPS4

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the HPS4 gene

Entrez Gene cytogenetic band: 22cen-q12.3 Ensembl cytogenetic band: 22q12.1 HGNC cytogenetic band: 22cen-q12.3

HPS4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 22 GeneLoc Exon Structure

GeneLoc location for GC22M025177: (about GC identifiers)

Start:	25,177,446 bp from pter
End:	25,209,820 bp from pter
Size:	32,375 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000022.9 NT_011520.11

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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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=Miscellaneous discrepancy; Note=Intron retention; Sequence=BC035614; Type=Miscellaneous

discrepancy; Note=Intron retention;

Secondary accessions: B1AHQ4 Q5H8V6 Q96LX6 Q9BY93 Q9UH37 Q9UH38

Alternative splicing: 4 isoforms: Q9NQG7-1 Q9NQG7-2 Q9NQG7-3 Q9NQG7-4

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (2 alternative transcripts):

NP_071364.4 NP_690054.1

ENSEMBL proteins:

ENSP00000338457 ENSP00000381213 ENSP00000381210 ENSP00000384185 ENSP00000325840

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (HPS4)
	Browse Abnova for Human Recombinant Proteins

OriGene Purified Recombinant Human Protein: HPS4

5 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005624	membrane fraction	IDA	12756248
GO:0005737	cytoplasm	IDA	12756248
GO:0005764	lysosome	IDA	12663659
GO:0042470	melanosome	IDA	12663659
GO:0042827	platelet dense granule	IDA	12756248

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Antibodies for HPS4:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Browse Antibodies at Sigma-Aldrich
	Browse R&D Systems for Antibodies
	Antibodies from Abcam (HPS4), each with their Abpromise^SM
	Browse Abnova for Monoclonal and Polyclonal Antibodies
	Search Novus for antibodies for HPS4

Assays for HPS4:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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ProtoNet protein and cluster: Q9NQG7

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (HPS4)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 5): NM_022081

Applied Biosystems Silencer® siRNAs for HPS4

Sigma-Aldrich siRNA for HPS4

Sigma-Aldrich shRNA for HPS4

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for HPS4
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_022081
Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_022081
untagged cDNA clones in CMV expression vector (see all 3): NM_022081

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_022081

UniProtKB/Swiss-Prot: HPS4_HUMAN, Q9NQG7

Function: May function in the pathway of organelle biogenesis

10 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Hps4):

	cellular	craniofacial	hearing/vestibular/ear	hematopoietic system
homeostasis/metabolism	pigmentation	renal/urinary system	skin/coat/nails	vision/eye

1 Gene Ontology (GO) molecular function term (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0042803	protein homodimerization activity	IPI	12663659

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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Gene Network Central^TM Interacting Genes and Proteins Network for HPS4

5/9 Interacting proteins for HPS4 (Q9NQG7¹ ENSP00000338457³) via UniProtKB, MINT, and/or STRING (see all 9 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
HPS1	Q92902¹	EBI-704377, EBI-704347
HPS3	ENSP00000296051³	STRING (score=.96)
AP3B1	ENSP00000255194³	STRING (score=.952)
HPS6	ENSP00000299238³	STRING (score=.935)
HPS5	ENSP00000312758³	STRING (score=.919)

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5 Gene Ontology (GO) biological process terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006605	protein targeting	IDA	12663659
GO:0007040	lysosome organization	IDA	12663659
GO:0007599	hemostasis	TAS	11836498
GO:0048075	positive regulation of eye pigmentation	TAS	11836498
GO:0050821	protein stabilization	IPI	12663659

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for HPS4

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
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Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (HPS4)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 5): NM_022081

Sigma-Aldrich siRNA for HPS4

Sigma-Aldrich shRNA for HPS4

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_022081 NM_152841

REFSEQ mRNAs for HPS4 gene (2 alternative transcripts):

NM_022081.4 NM_152841.1

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_022081 NM_152841

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_022081
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_022081
                                 untagged cDNA clones in CMV expression vector (see all 3): NM_022081

Additional cDNA sequence:

AK054717.1 AK057648.1 AK095406.1 AK097529.1 AK123691.1 AK290211.1 AL365512.1 AL713795.1

AY043416.1 BC035614.1 BC050285.1 BC065030.1 CR456392.1 CR601317.1

24/26 DOTS entries (see all 26 ):

DT.100732145 DT.75120241 DT.120665885 DT.100785566 DT.100785565 DT.91742410 DT.100785567 DT.100773633

DT.100785568 DT.408739 DT.120665922 DT.91874162 DT.95353765 DT.101975758 DT.120665936 DT.120665941

DT.120665973 DT.91742414 DT.95156232 DT.97840583 DT.120665895 DT.120665933 DT.120665983 DT.91742411

24/268 AceView cDNA sequences (see all 268 ):

Z40194 AA722569 NM_152840 BU617290 BM557146 AW629829 NM_152842 AA356313

AI961869 AA743323 AA558197 BM672973 NM_152843 BG575559 T16561 AL365512

CK429971 AI076395 BQ787594 BQ220346 AY043416 AW027864 BX108547 AI801578

highest scoring ESTs for HPS4:

AA558958 AL041451 AL704824 AL713795 BC050285 BG259515 BG720668 BG722751 BG773061 BG943448

Unigene Cluster for HPS4:

Hermansky-Pudlak syndrome 4

Hs.474436 [show with all ESTs]

Unigene Representative Sequence: NM_022081

GeneLoc Exon Structure

5/12 Alternative Splicing Database (ASD) splice patterns (SP) for HPS4 (see all 12 )

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:	-		-		-		-

About this scheme

ECgene alternative splicing isoforms for HPS4

5 Ensembl transcripts including schematic representations:

ENST00000336873 ENST00000398145 ENST00000398141 ENST00000402105 ENST00000312736

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
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HPS4 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for HPS4

¹ / ² / ³

8 probe-sets matching HPS4 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
61811_at²^{, 3}	U95-C	1	1.00	1.00	0.57	0.48	AI911535	0.60	1.00	0.82	1
44313_at²^{, 3}	U95-B	1	1.00	1.00	0.84	1.33	AA558958	0.80	1.00	0.91	1
54037_at²^{, 3}	U133-B	1	1.00	1.00	0.74	1.22	AL041451	0.80	1.00	0.91	1
54037_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AL041451	0.80	1.00	0.91	1
218402_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_022081	0.60	1.00	0.82	1
54037_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
218402_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
1552652_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks HPS4 for binary patterns associated with the probe-sets selected above

About GeneDecksing

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: TCAGTGAACT

SOURCE GeneReport for Unigene cluster: Hs.474436

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for HPS4 gene from 5/9 species (see all 9 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	HPS4¹	--	Hermansky-Pudlak syndrome 4	78.24(n) 71.69(a)	486330 XM_543456.2 XP_543456.2
chimpanzee (Pan troglodytes)	HPS4¹	--	Hermansky-Pudlak syndrome 4	99.01(n) 98.45(a)	458723 XM_001171982.1 XP_001171982.1
cow (Bos taurus)	HPS4¹	--	Hermansky-Pudlak syndrome 4	82.8(n) 87.1(a)	615386 NM_001076368.1 NP_001069836.1
rat (Rattus norvegicus)	Hps4¹	--	Hermansky-Pudlak syndrome 4 homolog (human)	68.39(n) 61.73(a)	304555 XM_222245.4 XP_222245.4
mouse (Mus musculus)	Hps4^{1, 5}	5 (59.00 cM)⁵	Hermansky-Pudlak syndrome 4 homolog (human)^{1, 5}	72.31(n)¹ 65.97(a)¹	192232¹ NM_138646.2¹ NP_619587.2¹ AA111610⁵ AI429349⁵ (see all 41)

About this table Species with no ortholog for HPS4

ENSEMBL Gene Tree for HPS4

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/197 NCBI SNPs in HPS4 are shown (see all 197 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 126)

AB	SNP ID	Valid	Chr 22 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs739291^1,2	A,C,F,H,O	25207539(+)	`GCTCAT/CGTGCT`	2	--	int¹ ng3¹		14	NA EA EU WA	1218
	rs1894704^1,2	A,C,F,H,O	25183905(+)	`CGATCA/CTGCGG`	2	Q/H	mis¹		14	EA MN EU WA NA	2706
	rs1894706^1,2	A,C,F,H	25184441(+)	`GTAATA/GTGTGA`	2	H/Y	mis¹		11	EU EA WA NA	980
	rs3752589^1,2	A,C,F,H	25177586(+)	`TCTTCT/GCTGGC`	2	--	ut3¹ ese³		8	EA EU WA NA	2050
	rs5752330^1,2	A,C,F,H	25189942(+)	`CAGCAT/CCAGCC`	2	M/V	mis¹ ese³		5	EU EA WA NA	484
	rs2014410^1,2	A,C,F,H	25190269(+)	`TTCGAC/GCTGCT`	2	L/V	mis¹ ese³		12	NA PA MN EU EA WA	1062
	rs713998^1,2	A,C,F,H	25192212(+)	`CATCCC/TCTCCC`	2	E/G	mis¹ ese³		5	EU EA WA NA	492
	rs3752588^1,2	C,F,H	25177512(+)	`ACGGAT/CAGGCT`	2	--	ut3¹ ese³		6	EA NA EU	1938
--	rs5761533^1,2	A,C,F	25177237(+)	`TAACCG/ATGTCC`	2	--	ng5¹		3	NA	142
	rs9613187^1,2	C,F,H	25205370(+)	`GATCAC/TGGCAT`	2	--	ut5¹ int¹		4	EU EA WA	420

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HapMap Linkage Disequilibrium images for HPS4 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 606682 disorders: 203300

UniProtKB/Swiss-Prot: HPS4_HUMAN, Q9NQG7

Defects in HPS4 are the cause of Hermansky-Pudlak syndrome type 4 (HPS4) [MIM:203300].

Hermansky-Pudlak syndrome (HPS) is a genetically heterogeneous, rare, autosomal recessive disorder

characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and

lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles

including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is

associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS

1 Novoseek disease relationship for HPS4 gene

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
hermansky-pudlak syndrome	94.82	3	11836498 (1), 12756248 (1), 18326704 (1)

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1 PharmGKB disease relationship for HPS4 gene

Disease	PharmGKB Relations	PubMed IDs for articles supporting these relationships
Leukemia, Lymphocytic, Acute, L1	FA GN	12730115

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GeneTests: HPS4

Hermansky-Pudlak Syndrome

Human Gene Mutation Database: HPS4
Human Genome Epidemiology Navigator: HPS4 (2 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
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10/25 PubMed articles for HPS4 gene (see all 25 ):

Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene. (PubMed id 11836498)^{1, 2, 3, 4} Suzuki T.... Spritz R.A. (2002)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{3, 4} Gerhard D.S....Malek J. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{3, 4} Ota T....Sugano S. (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)^{2, 3} Chiang P.W....Spritz R.A. (2003)
Reevaluating human gene annotation: a second-generation analysis of chromosome 22. (PubMed id 12529303)^{3, 4} Collins J.E....Dunham I. (2003)
Identification of novel transcribed sequences on human chromosome 22 by expressed sequence tag mapping. (PubMed id 11258795)^{3, 4} Hirosawa M....Ohara O. (2001)
The DNA sequence of human chromosome 22. (PubMed id 10591208)^{3, 4} 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, 3} Martina J.A....Bonifacino J.S. (2003)
Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics. (PubMed id 12664304)^{1, 3} 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, 3} Hutton S.M. and Spritz R.A. (2008)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 89781	HGNC: 15844	AceView: HPS4	Ensembl:ENSG00000100099	euGenes: HUgn89781
ECgene: HPS4	H-InvDB: HPS4

(According to HUGE)
About This Section

HUGE: KIAA1667

(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
Albinism database (ADB)	http://www.cbc.umn.edu/tad/
Mutations of the HPS4 gene	http://www.retina-international.com/sci-news/lemut.htm
GeneReviews	http://www.genetests.org/query?gene=HPS4

Licensable Technologies for HPS4
(Available from WIS Yeda, Salk, Tufts)

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(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
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Products for HPS4:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for HPS4-related products

	Millipore Custom Antibody & Bulk Services
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	Predesigned and custom siRNAs for HPS4		Browse antibodies at Sigma-Aldrich
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	Lentivirus-delivered shRNAs for HPS4		Browse small molecules at Sigma-Aldrich
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Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

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HPS4 Gene at Home site.
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HPS4 Gene

protein-coding GIFtS: 56

Aliases &
Descriptions
for HPS4

Summaries
for HPS4

Genomic Location
for HPS4

Proteins
for HPS4

Protein Domains/
Families
for HPS4

Gene Function
for HPS4

Pathways & Interactions
for HPS4

Drugs & Compounds
for HPS4

Transcripts
for HPS4

Expression
for HPS4

Orthologs
for HPS4

Paralogs
for HPS4

SNPs/Variants
for HPS4

Disorders & Mutations
for HPS4

Medical News
for HPS4

Publications
for HPS4

Search for HPS4

Genome Databases showing HPS4

Other Databases showing HPS4

Specialized Databases showing HPS4

Licensable Technologies
for HPS4

Services
for HPS4

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

HPS4 Gene

protein-coding GIFtS: 56

Aliases & Descriptionsfor HPS4

Summariesfor HPS4

Genomic Locationfor HPS4

Proteinsfor HPS4

Protein Domains/Familiesfor HPS4

Gene Functionfor HPS4

Pathways & Interactionsfor HPS4

Drugs & Compoundsfor HPS4

Transcriptsfor HPS4

Expression for HPS4

Orthologsfor HPS4

Paralogsfor HPS4

SNPs/Variantsfor HPS4

Disorders & Mutationsfor HPS4

Medical Newsfor HPS4

Publicationsfor HPS4

Search for HPS4

Genome Databases showing HPS4

Other Databases showing HPS4

Specialized Databases showing HPS4

Licensable Technologiesfor HPS4

Servicesfor HPS4

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for HPS4

Summaries
for HPS4

Genomic Location
for HPS4

Proteins
for HPS4

Protein Domains/
Families
for HPS4

Gene Function
for HPS4

Pathways & Interactions
for HPS4

Drugs & Compounds
for HPS4

Transcripts
for HPS4

Expression
for HPS4

Orthologs
for HPS4

Paralogs
for HPS4

SNPs/Variants
for HPS4

Disorders & Mutations
for HPS4

Medical News
for HPS4

Publications
for HPS4

Licensable Technologies
for HPS4

Services
for HPS4