Home
GeneCards Guide
Suite
- MalaCards
- GeneALaCart
- GeneDecks
- GeneIP
- GeneLoc
Terms and Conditions
- Terms of Use
- 3rd Party Notice
About Us
User Feedback
Mirror sites

Set Analyses:

Generates a file of GeneCards annotations for your list of genes

Advanced Search

Search By

Section (entire)

for

All GeneCards Within gene subset (to enable gene prioritization):
or upload a file of gene symbols

Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

UACA Gene

protein-coding GIFtS: 51
GCID: GC15M070946

uveal autoantigen with coiled-coil domains and ankyrin repeats

Explore 11 diseases affiliated with
UACA via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Uveal Autoantigen With Coiled-Coil Domains And Ankyrin Repeats¹ ²
KIAA1561¹ ³
NUCLING² ⁵
FLJ10128¹
Nuclear Membrane Binding Protein²
Uveal Autoantigen With Coiled Coil Domains And Ankyrin Repeats²

External Ids:	HGNC: 15947¹	Entrez Gene: 55075²	Ensembl: ENSG00000137831⁷	OMIM: 612516⁵	UniProtKB: Q9BZF9³

Export aliases for UACA gene to outside databases

Previous GC identifers: GC15M066744 GC15M064046 GC15M068525 GC15M068665 GC15M068736 GC15M047782

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: UACA_HUMAN, Q9BZF9

Function: Regulates APAF1 expression and plays an important role in the regulation of stress-induced apoptosis.

Promotes apoptosis by regulating three pathways, apoptosome up-regulation, LGALS3/galectin-3 down-regulation and

NF-kappa-B inactivation. Regulates the redistribution of APAF1 into the nucleus after proapoptotic stress.

Down-regulates the expression of LGALS3 by inhibiting NFKB1 (By similarity)

Function: Modulates isoactin dynamics to regulate the morphological alterations required for cell growth and motility.

Interaction with ARF6 may modulate cell shape and motility after injury (By similarity)

Gene Wiki entry for UACA

(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_000015.9 NC_018926.1 NT_010194.17

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the UACA gene promoter:
RFX1 FOXD3 HSF1 (long) Ik-3 E4BP4 MZF-1 SRY c-Myb HSF1short NF-kappaB1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): UACA promoter sequence

Search SABiosciences Chromatin IP Primers for UACA

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat UACA

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

Entrez Gene cytogenetic band: 15q22-q24 Ensembl cytogenetic band: 15q23 HGNC cytogenetic band: 15q22-q24

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

GeneLoc information about chromosome 15 GeneLoc Exon Structure

GeneLoc location for GC15M070946: view genomic region (about GC identifiers)

Start:	70,946,893 bp from pter	End:	71,055,932 bp from pter
Size:	109,040 bases	Orientation:	minus strand

(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: UACA_HUMAN, Q9BZF9 (See protein sequence)

Recommended Name: Uveal autoantigen with coiled-coil domains and ankyrin repeats

Size: 1416 amino acids; 162505 Da

Subunit: Component of the apoptosome complex, composed of APAF1, pro-caspase-9 and UACA. In the complex, it probably

interacts directly with APAF1. Interacts with LGALS3, ARF6 and ACTB (By similarity)

Subcellular location: Nucleus. Cytoplasm. Cytoplasm, cytoskeleton. Note=Expressed diffusely in cytoplasm

Miscellaneous: UACA is a possible target autoantigen in Vogt-Koyanagi-Harada (VKH), Behcet disease (BD) and sarcoidosis

that cause different types of panuevitis

Sequence caution: Sequence=BAA91457.1; Type=Erroneous initiation;

Secondary accessions: Q14DD3 Q8N3B8 Q9HCL1 Q9NWC6

Explore the universe of human proteins at neXtProt for UACA: NX_Q9BZF9

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9BZF9

UACA Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001008225.1 NP_060473.2

ENSEMBL proteins:

ENSP00000314556 ENSP00000369319 ENSP00000454018 ENSP00000438667 ENSP00000453865

ENSP00000453616

Human Recombinant Protein Products for UACA:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells Browse OriGene Protein Over-expression Lysates OriGene Custom Protein Services for UACA
	GenScript Custom Purified and Recombinant Proteins Services for UACA
	Novus Biologicals UACA Lysate
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for UACA

Gene Ontology (GO): 5/12 cellular component terms (GO ID links to tree view) (see all 12): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	NAS	11162650
GO:0005624	membrane fraction	--	--
GO:0005625	soluble fraction	--	--
GO:0005634	nucleus	IDA	--
GO:0005635	nuclear envelope	IEA	--

UACA for ontologies About GeneDecksing

UACA Antibody Products:

	Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Browse R&D Systems for Antibodies
	Browse OriGene Antibodies OriGene Custom Antibody Services for UACA
	GenScript Custom Superior Antibodies Services for UACA
	Novus Biologicals UACA Antibodies
	Abcam antibodies for UACA
	Uscn Antibodies for UACA
	Search ThermoFisher Antibodies for UACA

Assay Products for UACA:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for UACA
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for UACA

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

UACA for domains About GeneDecksing

3 InterPro domains/families:

IPR000727 T_SNARE_dom

IPR020683 Ankyrin_rpt-contain_dom

IPR002110 Ankyrin_rpt

Graphical View of Domain Structure for InterPro Entry Q9BZF9

ProtoNet protein and cluster: Q9BZF9

1 Blocks protein family: IPB002110 Ankyrin repeat signature

UniProtKB/Swiss-Prot: UACA_HUMAN, Q9BZF9

Similarity: Contains 6 ANK repeats

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: UACA_HUMAN, Q9BZF9

Function: Regulates APAF1 expression and plays an important role in the regulation of stress-induced apoptosis.

Promotes apoptosis by regulating three pathways, apoptosome up-regulation, LGALS3/galectin-3 down-regulation and

NF-kappa-B inactivation. Regulates the redistribution of APAF1 into the nucleus after proapoptotic stress.

Down-regulates the expression of LGALS3 by inhibiting NFKB1 (By similarity)

Function: Modulates isoactin dynamics to regulate the morphological alterations required for cell growth and motility.

Interaction with ARF6 may modulate cell shape and motility after injury (By similarity)

Induction: Up-regulated after TSH stimulation

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003674	molecular_function	ND	--
GO:0005515	protein binding	IPI	17003112

UACA for ontologies About GeneDecksing

Phenotypes:
12 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Uaca):

cardiovascular system	cellular	endocrine/exocrine gland	hematopoietic system	homeostasis/metabolism
immune system	integument	liver/biliary system	renal/urinary system	reproductive system
respiratory system	tumorigenesis

UACA for phenotypes About GeneDecksing

Animal Models:
Mouse knock-out Uaca^tm1Kiy for UACA

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for UACA

miRNA Products:		OriGene 3'-UTR Clone (see all 2): UACA Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat UACA
		8/34 QIAGEN miScript miRNA Assays for microRNAs that regulate UACA (see all 34):
		hsa-miR-3685 hsa-miR-3194-5p hsa-miR-640 hsa-miR-4307 hsa-miR-200a hsa-miR-29a hsa-miR-141 hsa-miR-9

		SwitchGear 3'UTR luciferase reporter plasmid: UACA 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for UACA (see all 4) OriGene shRNA RFP: UACA OriGene siRNA: UACA
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat UACA
		Sirion Biotech Custom design and validation of potent shRNA sequences against UACA

Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for UACA
			Sirion Biotech Customized adenovirus for overexpression of UACA Sirion Biotech Customized adenovirus for potent knockdown of UACA

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 UACA (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for UACA (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): UACA (NM_018003)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for UACA
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat UACA

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for UACA
		Search LifeMap BioReagents cell lines for UACA
		Sirion Biotech Customized stable knockdown cell line services for UACA Sirion Biotech Customized inducible knockdown cell line services for UACA Sirion Biotech Customized stable overexpressing cell line services for UACA Sirion Biotech Customized inducible overexpressing cell line services for UACA

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UACA

(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 Central^TM Interacting Genes and Proteins Networks for UACA

STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

5/14 Interacting proteins for UACA (Q9BZF9^{2, 3} ENSP00000314556⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 14)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
MAP3K3	Q99759²^,³	MINT-48474 I2D: score=2
NFKBIE	O00221³, ENSP00000275015⁴	I2D: score=1 STRING: ENSP00000275015
STAMBP	O95630³, ENSP00000344742⁴	I2D: score=1 STRING: ENSP00000344742
REL	Q04864³, ENSP00000295025⁴	I2D: score=1 STRING: ENSP00000295025
CELSR3	Q9NYQ7³, ENSP00000164024⁴	I2D: score=2 STRING: ENSP00000164024

About this table

Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0008150	biological_process	ND	--
GO:0008630	intrinsic apoptotic signaling pathway in response to DNA damage	IEA	--
GO:0008631	intrinsic apoptotic signaling pathway in response to oxidative stress	IEA	--
GO:0009411	response to UV	IEA	--
GO:0042307	positive regulation of protein import into nucleus	IEA	--

UACA for ontologies About GeneDecksing

(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 Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for UACA
Search CenterWatch for drugs/clinical trials and news about UACA

(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, Sirion Biotech, 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 UACA gene (2 alternative transcripts):

NM_001008224.1 NM_018003.2

Unigene Cluster for UACA:

Uveal autoantigen with coiled-coil domains and ankyrin repeats

Hs.108049 [show with all ESTs]

Unigene Representative Sequence: NM_001008224

14 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000322954(uc002asq.3 uc002asr.3 uc010uke.2) ENST00000379983(uc010bin.1)

ENST00000560441 ENST00000559206 ENST00000560831 ENST00000539319 ENST00000558758

ENST00000559290 ENST00000558308 ENST00000560523 ENST00000559156 ENST00000560951

ENST00000559183 ENST00000560167

miRNA Products:		OriGene 3'-UTR Clone (see all 2): UACA Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat UACA
		8/34 QIAGEN miScript miRNA Assays for microRNAs that regulate UACA (see all 34):
		hsa-miR-3685 hsa-miR-3194-5p hsa-miR-640 hsa-miR-4307 hsa-miR-200a hsa-miR-29a hsa-miR-141 hsa-miR-9

		SwitchGear 3'UTR luciferase reporter plasmid: UACA 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for UACA (see all 4) OriGene shRNA RFP: UACA OriGene siRNA: UACA
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat UACA
		Sirion Biotech Custom design and validation of potent shRNA sequences against UACA

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for UACA (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for UACA (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): UACA (NM_018003)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for UACA
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat UACA

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for UACA Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat UACA
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat UACA
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat UACA

Additional cDNA sequence:

AB046781.2 AF322916.1 AK000990.1 AK055435.1 AK057207.1 AL834243.1 AL834464.1 BC016881.1

BC113407.1 BC113409.1 BC143266.1 BC143267.1

12 DOTS entries:

DT.452469 DT.91743283 DT.75106426 DT.100783434 DT.91977897 DT.100025907 DT.99996995 DT.92433721

DT.100783436 DT.95281787 DT.100783438 DT.91695802

24/173 AceView cDNA sequences (see all 173):

BG030772 AA418895 AL712601 CB241591 AU118158 BF796781 CB321948 BQ233148

BQ230497 BG028742 N36643 CA392301 CB044797 BM696447 AI241900 CA430153

BM697003 AA588212 BM693348 N44315 BF966001 AL834464 AA424983 AK057207

GeneLoc Exon Structure

(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

UACA expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GTCTTTCTGG

About this image

UACA expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 2 LifeMap Cells

Name

Category

PureStem™ progenitor W10 (Embryonic Progenitor Cell)

PureStem™ progenitor W8 (Embryonic Progenitor Cell)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See UACA Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for UACA

SOURCE GeneReport for Unigene cluster: Hs.108049

UniProtKB/Swiss-Prot: UACA_HUMAN, Q9BZF9

Tissue specificity: Highly expressed in skeletal muscle, heart, kidney and pancreas. Expressed in choroid, retina and

epidermal melanocytes. Expressed in eye muscles and thyroid follicular cells

SABiosciences Custom PCR Arrays for UACA

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for UACA Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat UACA
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat UACA
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat UACA

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UACA

(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 chordates.

Orthologs for UACA gene from 4/14 species (see all 14) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	UACA¹	uveal autoantigen with coiled-coil domains and ankyrin more	69.74(n) 65.71(a)		415569 XM_413937.3 XP_413937.3
lizard (Anolis carolinensis)	Reptilia	UACA⁶	--	57(a)	1 ↔ 1	GL343642.1(114525-147552)
African clawed frog (Xenopus laevis)	Amphibia	Xl.4968²	Xenopus laevis transcribed sequence with weak similarity more	72.78(n)		CA974356.1
zebrafish (Danio rerio)	Actinopterygii	sbcb472²	sbcb472	77.18(n)		368339 57068913

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for UACA gene

RAI14² ANKRD24² ANKRD35²

11 SIMAP similar genes for UACA using alignment to 9 protein entries: UACA_HUMAN (see all proteins):

DKFZp564M063 ANKRD35 RAI14 ANKRD6 HACE1 CDKN2C

IkBa ANKRD44 ANK2 ANKDD1A ANKRD42

UACA for paralogs About GeneDecksing

(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

SNP ID	Valid	Clinical significance	Chr 15 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs62968661^1,2		--	47807750(+)	`AACTTT/AAAAAA`	1	--	int¹		1		NA	2
rs62664060^1,2	C	--	47834250(+)	`TTGTTA/TAAAAA`	1	--	int¹		0	--	--	--	--
rs116711163^1,2		--	70946487(+)	`CTCCTG/ACAAGC`	2	--	ds500¹		1		WA	118
rs147061022^1,2		--	70946492(+)	`GCAAGC/GAGGCA`	2	--	ds500¹		0	--	--	--	--
rs183014303^1,2		--	70946570(+)	`GAGTCA/GGTCAA`	2	--	ds500¹		0	--	--	--	--
rs187275277^1,2		--	70946603(+)	`TAACAA/GGCACA`	2	--	ds500¹		0	--	--	--	--
rs192149305^1,2		--	70946680(+)	`GCTCAC/TGTTCT`	2	--	ds500¹		0	--	--	--	--
rs138430058^1,2		--	70946748(+)	`AATTGC/TAAACT`	2	--	ds500¹		0	--	--	--	--
rs201632761^1,2	C	--	70946789(-)	`TTTTAG/TTTGAA`	2	--	ds500¹		0	--	--	--	--
rs720519^1,2	H	--	70946973(-)	`CATCAG/CAAAAG`	2	--	ut3¹		6		NA MN NS EA	684

HapMap Linkage Disequilibrium report for UACA (70946893 - 71055932 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 8 variations for UACA
8 CNVs: 32041 9747 39172 5793 61458 22783 35333 3085

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing UACA

DNA2.0 Custom Variant and Variant Library Synthesis for UACA

(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.)
About This Section

UACA for disorders           About GeneDecksing

OMIM gene information: 612516    OMIM disorders: --

11 diseases for UACA:    About MalaCards

vogt-koyanagi-harada disease panuveitis chronic lymphocytic leukemia lymphocytic leukemia

graves' disease choroiditis leukemia hypoxia

thyroiditis behcet's disease sarcoidosis

1 disease from the University of Copenhagen DISEASES database for UACA:

Vogt-Koyanagi-Harada disease

Human Genome Epidemiology (HuGE) Navigator: UACA (1 document)

Export disorders for UACA 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)
About This Section

PubMed articles for UACA gene, integrated from 9 sources (see all 26):
(articles sorted by number of sources associating them with UACA)

Utopia: connect your pdf to the dynamic
world of online information

Identification of a novel autoantigen UACA in patients with panuveitis. (PubMed id 11162650)^{1, 2, 3} Yamada K.... Nishimura Y. (2001)
Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10997877)^{1, 2, 3} Nagase T.... Ohara O. (2000)
Detection of the novel autoantibody (anti-UACA antibody) in patients with Graves' disease. (PubMed id 15358194)^{1, 2} Ohkura T.... Shigemasa C. (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)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
A census of human soluble protein complexes. (PubMed id 22939629)¹ Havugimana P.C....Emili A. (2012)
Down-regulated expression of apoptosis-associated gene s APIP and UACA in non-small cell lung carcinoma. (PubMed id 22407486)¹ Moravcikova E....Benkova K. (2012)
Identification and characterization of nardilysin as a novel dimethyl H3K4-binding protein involved in transcriptional regulation. (PubMed id 22294699)¹ Li J....Wong J. (2012)
Initial characterization of the human central proteome. (PubMed id 21269460)² Burkard T.R.... Colinge J. (2011)
A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)¹ Wagner S.A....Choudhary C. (2011)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
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, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 55075	HGNC: 15947	AceView: UACA	Ensembl:ENSG00000137831	euGenes: HUgn55075
ECgene: UACA	H-InvDB: UACA

(According to HUGE)
About This Section

HUGE: KIAA1561

(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 UACA	Pharmacogenomics, SNPs, Pathways

Intellectual Property for UACA gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for UACA gene:
Search GeneIP for patents involving UACA

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

(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 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, 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, Animal models from inGenious Targeting Laboratory)
About This Section


	EMD Millipore Custom Antibody & Bulk Services
	EMD Millipore Preclinical / Clinical Development Services
	EMD Millipore Immunoassay Services
	EMD Millipore Target Screening & Profiling Services

	Browse Antibodies		Browse Cell Culture Products
	Browse ELISAs		Browse Flow Cytometry Kits
	Browse Primer Pairs		Browse Kinase Activity Assays/Reagents
	Browse ELISpot Kits/Development Modules		Browse TFB/Immunoprecipitation Assays
	Browse Apoptosis Detection Kits/Reagents		Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents
	Browse DNA Damage/Repair Kits/Reagents		Browse Multiplex/Array Assay Kits/Reagents
	Browse Cell Selection/Detection Kits/Reagents		Browse Secondary Antibodies/Controls/Staining Reagents
	Browse Phosphatase Activity Assays/Reagents		Browse Recombinant/Natural Proteins

	Browse OriGene Antibodies		OriGene shRNA RFP for UACA
	OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for UACA		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for UACA
	Browse OriGene Protein Over-expression Lysates		Browse OriGene Fluorogenic Cell Assay Kits
	OriGene siRNA for UACA		OriGene 3'-UTR Clone for UACA
	OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for UACA		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for UACA
	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
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells		OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
	OriGene Custom Antibody Services for UACA		OriGene Custom Protein Services for UACA
	OriGene Custom Immunoassay Development

	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat UACA
	QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing UACA
	QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat UACA
	QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat UACA
	QIAGEN QuantiFast Probe-based Assays in human, mouse, rat UACA
	QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat UACA

	GenScript Custom Purified and Recombinant Proteins Services for UACA		GenScript cDNA clones with any tag delivered in your preferred vector for UACA
	GenScript Custom Assay Services for UACA		GenScript Custom Superior Antibodies Services for UACA
	GenScript Custom overexpressing Cell Line Services for UACA		CloneReady with Over 120,000 Genes
	Gene Synthesis: Any Gene in Any Vector		Vector-based siRNA and miRNA, Ready for Transfection
	Gene Mutant Library, Variants up to 10^11		Plasmid Preparation
	Custom Peptide Services

Search for Antibodies & Assays

	Regulatory tfbs in UACA promoter
	Search Chromatin IP Primers for UACA
	RT² qPCR Primer Assay in human, mouse, rat UACA
	Search GNC Networks for UACA
	SABiosciences Custom PCR Arrays for UACA

Search Tocris compounds for UACA

	Browse Sino Biological Proteins and Antibodies
	Browse Sino Biological cDNA Clones
	Antibodies/Proteins Production Services
	Rabbit Monoclonal Antibody Platform
	Bulk Purchasing

Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

	Novus Tissue Slides
	UACA antibodies
	UACA lysates

	Antibodies for UACA
	See all of Abcam's Antibodies, Kits and Proteins for UACA
	Custom Antibody / Protein Production Service
	Bulk Purchasing
	Advantages of Rabbit Monoclonal antibodies
	Abcam protocols and scientific support

Browse ProSpec Recombinant Proteins

UACA Proteins, Antibodies, CLIAs, and ELISAs

Search LifeMap BioReagents cell lines for UACA

	Gene Synthesis
	Protein Engineering
	Variant Library Synthesis
	Codon Optimization
	Protein Production and Purification

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UACA

	SwitchGear 3'UTR luciferase reporter plasmids for UACA
	SwitchGear Promoter luciferase reporter plasmids for UACA

Search ThermoFisher Antibodies for UACA

Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat UACA

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for UACA

Sirion Biotech Customized:

	stable knockdown cell line services for UACA
	inducible knockdown cell line services for UACA
	design and validation of potent shRNA sequences against UACA
	adenovirus for potent knockdown of UACA
	adenovirus for overexpression of UACA
	stable overexpressing cell line services for UACA
	inducible overexpressing cell line services for UACA

GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013 , 14 May 2013

View Random Gene

Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 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

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes UACA gene at Home site.

hostname: 356980-web2.xennexinc.com index build: 106 solr: 1.4

Advanced Search

Export list of displayed genes

UACA Gene

uveal autoantigen with coiled-coil domains and ankyrin repeats

Aliases
for UACA gene

Summaries
for UACA gene

Genomic Views
for UACA gene

Proteins
for UACA gene

Protein Domains /
Families
for UACA gene

Function
for UACA gene

Pathways & Interactions
for UACA gene

Drugs & Compounds
for UACA gene

Transcripts
for UACA gene

Expression
for UACA gene

Orthologs
for UACA gene

Paralogs
for UACA gene

Genomic Variants
for UACA gene

Disorders / Diseases
for UACA gene

Publications
for UACA gene

External Searches for UACA gene

Genome Databases showing UACA gene

Other Databases showing UACA gene

Specialized Databases showing UACA gene

Intellectual Property
for UACA gene

Products
for UACA gene

View Random Gene

Advanced Search

Export list of displayed genes

UACA Gene

uveal autoantigen with coiled-coil domains and ankyrin repeats

Aliasesfor UACA gene

Summariesfor UACA gene

Genomic Viewsfor UACA gene

Proteinsfor UACA gene

Protein Domains /Familiesfor UACA gene

Functionfor UACA gene

Pathways & Interactionsfor UACA gene

Drugs & Compoundsfor UACA gene

Transcriptsfor UACA gene

Expression for UACA gene

Orthologsfor UACA gene

Paralogsfor UACA gene

Genomic Variantsfor UACA gene

Disorders / Diseasesfor UACA gene

Publicationsfor UACA gene

External Searches for UACA gene

Genome Databases showing UACA gene

Other Databases showing UACA gene

Specialized Databases showing UACA gene

Intellectual Propertyfor UACA gene

Productsfor UACA gene

View Random Gene

Aliases
for UACA gene

Summaries
for UACA gene

Genomic Views
for UACA gene

Proteins
for UACA gene

Protein Domains /
Families
for UACA gene

Function
for UACA gene

Pathways & Interactions
for UACA gene

Drugs & Compounds
for UACA gene

Transcripts
for UACA gene

Expression
for UACA gene

Orthologs
for UACA gene

Paralogs
for UACA gene

Genomic Variants
for UACA gene

Disorders / Diseases
for UACA gene

Publications
for UACA gene

Intellectual Property
for UACA gene

Products
for UACA gene