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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ANKRD33 Gene

protein-coding GIFtS: 43
GCID: GC12P052281

ankyrin repeat domain 33

(Previous name: chromosome 12 open reading frame 7 )
(Previous symbol: C12orf7)

Explore 2 diseases affiliated with
ANKRD33 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
Ankyrin Repeat Domain 33¹ ²
C12orf7¹ ² ³
PANKY¹ ²
DKFZp686O1689¹
Chromosome 12 Open Reading Frame 7¹
Ankyrin Repeat Domain-Containing Protein 33²

External Ids:	HGNC: 13788¹	Entrez Gene: 341405²	Ensembl: ENSG00000167612⁷	UniProtKB: Q7Z3H0³

Export aliases for ANKRD33 gene to outside databases

Previous GC identifers: GC12P050569 GC12P049316

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

(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_000012.11 NC_018923.1 NT_029419.12

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the ANKRD33 gene promoter:
ER-alpha STAT1 STAT1beta RelA GATA-1 Gfi-1 E47 c-Rel Hand1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ANKRD33 promoter sequence

Search SABiosciences Chromatin IP Primers for ANKRD33

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ANKRD33

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

Entrez Gene cytogenetic band: 12q13.13 Ensembl cytogenetic band: 12q13.13 HGNC cytogenetic band: 12q13.13

ANKRD33 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ANKRD33 gene location

GeneLoc information about chromosome 12 GeneLoc Exon Structure

GeneLoc location for GC12P052281: view genomic region (about GC identifiers)

Start:	52,281,744 bp from pter	End:	52,285,505 bp from pter
Size:	3,762 bases	Orientation:	plus 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: ANR33_HUMAN, Q7Z3H0 (See protein sequence)

Recommended Name: Ankyrin repeat domain-containing protein 33

Size: 272 amino acids; 29011 Da

Sequence caution: Sequence=AAQ07991.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

Sequence=AAQ07992.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

Secondary accessions: Q0VAA7 Q5K619 Q5K621 Q5K622 Q5K623 Q5K624 Q6ZUN0

Alternative splicing: 2 isoforms: Q7Z3H0-1 Q7Z3H0-2 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ANKRD33: NX_Q7Z3H0

ANKRD33 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001123487.1 NP_872414.3

ENSEMBL proteins:

ENSP00000301190 ENSP00000448116 ENSP00000344690 ENSP00000443722

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

ANKRD33 for domains About GeneDecksing

2 InterPro domains/families:

IPR020683 Ankyrin_rpt-contain_dom

IPR002110 Ankyrin_rpt

Graphical View of Domain Structure for InterPro Entry Q7Z3H0

ProtoNet protein and cluster: Q7Z3H0

1 Blocks protein family: IPB002110 Ankyrin repeat signature

UniProtKB/Swiss-Prot: ANR33_HUMAN, Q7Z3H0

Similarity: Contains 3 ANK repeats

(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

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In Situ Assay
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(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 ANKRD33

STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

5 Interacting proteins for ANKRD33 (Q7Z3H0³ ENSP00000301190⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
RELA	Q04206³	I2D: score=1
USP36	ENSP00000310590⁴	STRING: ENSP00000310590
USP49	ENSP00000297229⁴	STRING: ENSP00000297229
PPP6C	ENSP00000392147⁴	STRING: ENSP00000392147
PLK1	ENSP00000300093⁴	STRING: ENSP00000300093

About this table

(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 ANKRD33
Search CenterWatch for drugs/clinical trials and news about ANKRD33 / ANR33

(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,
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About This Section

REFSEQ mRNAs for ANKRD33 gene (2 alternative transcripts):

NM_001130015.1 NM_182608.3

Unigene Cluster for ANKRD33:

Ankyrin repeat domain 33

Hs.433492 [show with all ESTs]

Unigene Representative Sequence: NM_182608

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

ENST00000301190(uc001rzf.4 uc001rzd.3 uc001rzg.4 uc001rzi.4)

ENST00000549751 ENST00000548383 ENST00000548526(uc001rzh.4 uc001rze.3)

ENST00000340970 ENST00000547119 ENST00000549316 ENST00000550652 ENST00000538991

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Additional cDNA sequence:

AF517108.1 AF517109.1 AF517110.1 AF517111.1 AF517112.1 AF517113.1 AF517115.1 AF517116.1

AF517117.1 AF517118.1 AF517119.1 AF517120.1 AK125517.1 BC121152.1 BC121153.2 BX537908.1

BX640656.1 BX649168.1

7 DOTS entries:

DT.311993 DT.100743006 DT.101981896 DT.121173472 DT.311991 DT.101981894 DT.121173480

24/30 AceView cDNA sequences (see all 30):

BQ025262 BU754556 BU754533 BF590315 BQ025043 BM695730 BX640656 AK125517

BU734143 NM_182608 BU728922 BM665103 BX537908 BU738670 BX649168 BX647684

W92491 W92481 R77264 BM695509 R93817 AA047764 R63383 AA053776

GeneLoc Exon Structure

5/6 Alternative Splicing Database (ASD) splice patterns (SP) for ANKRD33 (see all 6) About this scheme

ExUns:	1a	·	1b	·	1c	·	1d	^	2a	·	2b	·	2c	^	3	^	4a	·	4b	^	5	^	6a	·	6b	·	6c	^	7a	·	7b
SP1:													-								-		-
SP2:													-										-
SP3:													-						-		-		-
SP4:													-		-				-		-		-
SP5:

ECgene alternative splicing isoforms for ANKRD33

(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

ANKRD33 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GCAGGAGGTT

About this image

ANKRD33 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Eye

Outer Nuclear Layer

Mature Rod Cells

Photoreceptors, Retina

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Blimp1- mVenus and stella-ECFP genetically modified stem cells (Embryonic Stem Cell)

Early Embryo, Inner Cell Mass

See ANKRD33 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ANKRD33

SOURCE GeneReport for Unigene cluster: Hs.433492

SABiosciences Custom PCR Arrays for ANKRD33

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In Situ
Assay Products:

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(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 ANKRD33 gene from 4/10 species (see all 10) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	ANKRD33¹	ankyrin repeat domain 33	56.74(n) 52.1(a)		430112 XM_427670.3 XP_427670.3
lizard (Anolis carolinensis)	Reptilia	ANKRD33⁶	--	40(a)	1 ↔ 1	2(92546289-92556257)
zebrafish (Danio rerio)	Actinopterygii	CR753817.1⁶ ankrd33aa⁶	ankyrin repeat domain 33Aa	32(a) 32(a)	1 ↔ many 1 ↔ many	6(39210937-39216549) 23(28103370-28115777)
honey bee (Apis mellifera)	Insecta	--	--	12(a)	1 → many	Group1.26(99353-105343)

ENSEMBL Gene Tree for ANKRD33 (if available)
TreeFam Gene Tree for ANKRD33 (if available)

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

Paralogs for ANKRD33 gene

ANKRD33B²

1 SIMAP similar gene for ANKRD33 using alignment to 3 protein entries: ANR33_HUMAN (see all proteins):

ANKRD33B

ANKRD33 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 12 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs116180678^1,2	F,	--	52279797(+)	`GAGAGT/ACACAT`	2	--	us2k¹		1		WA	118
rs117987588^1,2	F,	--	52279902(+)	`ACCTGT/CGACAG`	2	--	us2k¹		1		EA	120
rs149545940^1,2		--	52279907(+)	`TGACAA/GCAAAA`	2	--	us2k¹		0	--	--	--	--
rs144162215^1,2		--	52279908(+)	`GACAGA/CAAAAC`	2	--	us2k¹		0	--	--	--	--
rs76585712^1,2		--	52279929(+)	`TGCTAC/TGTAGC`	2	--	us2k¹		0	--	--	--	--
rs61914018^1,2	C,F,	--	52279970(+)	`CAGGAC/TGCAAA`	2	--	us2k¹		1		NA	120
rs75435979^1,2	C	--	52280014(+)	`GGTTGG/TTTTAG`	2	--	us2k¹		0	--	--	--	--
rs76193475^1,2	C	--	52280015(+)	`GTTGTC/TTTAGC`	2	--	us2k¹		0	--	--	--	--
rs144207848^1,2		--	52280189(+)	`GTGAAA/GAAGAA`	2	--	us2k¹		0	--	--	--	--
rs76017575^1,2	F,	--	52280240(+)	`GTTAGT/CTAAAA`	2	--	us2k¹		1		WA	118

HapMap Linkage Disequilibrium report for ANKRD33 (52281744 - 52285505 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for ANKRD33: --

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ANKRD33

DNA2.0 Custom Variant and Variant Library Synthesis for ANKRD33

(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

ANKRD33 for disorders About GeneDecksing

2 diseases for ANKRD33: About MalaCards

telangiectasis schizophrenia

Export disorders for ANKRD33 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 ANKRD33 gene integrated from 9 sources:
(articles sorted by number of sources associating them with ANKRD33)

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

Panky, a novel photoreceptor-specific ankyrin repeat protein, is a transcriptional cofactor that suppresses CRX-regulated photorecep tor genes. (PubMed id 20026326)^{1, 3} Sanuki R....Furukawa T. (2010)
The finished DNA sequence of human chromosome 12. (PubMed id 16541075)^{1, 2} Scherer S.E.... Gibbs R.A. (2006)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
Genome-wide pharmacogenomic study of neurocognition a s an indicator of antipsychotic treatment response in schizophrenia. (PubMed id 21107309)¹ McClay J.L....van den Oord E.J. (2011)
The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)² Bechtel S.... Schupp I. (2007)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)² Gerhard D.S....Malek J. (2004)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)¹ Strausberg R.L....Marra M.A. (2002)

(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: 341405	HGNC: 13788	AceView: DKFZp686O1689	Ensembl:ENSG00000167612	euGenes: HUgn341405
ECgene: ANKRD33	H-InvDB: ANKRD33

(According to HUGE)
About This Section

(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 ANKRD33	Pharmacogenomics, SNPs, Pathways

Intellectual Property for ANKRD33 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for ANKRD33 gene:
Search GeneIP for patents involving ANKRD33

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, 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),
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Advanced Cell Diagnostics
About This Section


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GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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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

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

Hot genes Disease genes ANKRD33 gene at Home site.

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ANKRD33 Gene

ankyrin repeat domain 33

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ANKRD33 Gene

ankyrin repeat domain 33

Aliasesfor ANKRD33 gene

Summariesfor ANKRD33 gene

Genomic Viewsfor ANKRD33 gene

Proteinsfor ANKRD33 gene

Protein Domains /Familiesfor ANKRD33 gene

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for ANKRD33 gene

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