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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

SOWAHA Gene

protein-coding GIFtS: 36
GCID: GC05P132150

sosondowah ankyrin repeat domain family member A

(Previous name: ankyrin repeat domain 43 )
(Previous symbol: ANKRD43)

Search for SOWAHA
in

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
Sosondowah Ankyrin Repeat Domain Family Member A¹ ²
ANKRD43¹ ² ³
Ankyrin Repeat Domain 43¹ ²
Ankyrin Repeat Domain-Containing Protein 43² ³
Protein Sosondowah Homolog A² ³
Ankyrin Repeat Domain-Containing Protein SOWAHA²

External Ids:	HGNC: 27033¹	Entrez Gene: 134548²	Ensembl: ENSG00000198944⁷	UniProtKB: Q2M3V2³

Export aliases for SOWAHA gene to outside databases

(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_000005.9 NC_018916.1 NT_034772.6

Regulatory elements:

Search SABiosciences Regulatory transcription factor binding sites for SOWAHA
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SOWAHA promoter sequence

Search SABiosciences Chromatin IP Primers for SOWAHA

Epigenetics:

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

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

Entrez Gene cytogenetic band: 5q31.1 Ensembl cytogenetic band: 5q31.1 HGNC cytogenetic band: 5q23.3

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

GeneLoc information about chromosome 5 GeneLoc Exon Structure

GeneLoc location for GC05P132150: view genomic region (about GC identifiers)

Start:	132,149,033 bp from pter	End:	132,152,489 bp from pter
Size:	3,457 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: SWAHA_HUMAN, Q2M3V2 (See protein sequence)

Recommended Name: Ankyrin repeat domain-containing protein SOWAHA precursor

Size: 549 amino acids; 57443 Da

Sequence caution: Sequence=AAI04772.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

Sequence=AAI04776.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAC03975.1;

Type=Erroneous initiation; Note=Translation N-terminally extended;

Secondary accessions: Q8NAE7

Explore the universe of human proteins at neXtProt for SOWAHA: NX_Q2M3V2

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q2M3V2

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

REFSEQ proteins: NP_787069.3

ENSEMBL proteins:

ENSP00000367965

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

SOWAHA for domains About GeneDecksing

2 InterPro domains/families:

IPR020683 Ankyrin_rpt-contain_dom

IPR002110 Ankyrin_rpt

Graphical View of Domain Structure for InterPro Entry Q2M3V2

ProtoNet protein and cluster: Q2M3V2

UniProtKB/Swiss-Prot: SWAHA_HUMAN, Q2M3V2

Similarity: Belongs to the SOWAH family

Similarity: Contains 2 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

Phenotypes:
1 GenomeRNAi human phenotype for SOWAHA:

Decreased p24 protein expressi

Animal Models:

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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 SOWAHA

(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

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(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,
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About This Section

REFSEQ mRNAs for SOWAHA gene:

NM_175873.4

Unigene Cluster for SOWAHA:

Sosondowah ankyrin repeat domain family member A

Hs.13308 [show with all ESTs]

Unigene Representative Sequence: NM_175873

1 Ensembl transcript including schematic representation, and UCSC links where relevant:

ENST00000378693(uc003kxw.3)

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Additional cDNA sequence:

AK090823.1 AK092782.1 BC104771.1 BC104775.1

1 DOTS entry:

DT.310542

24/29 AceView cDNA sequences (see all 29):

AW418791 CB129478 AI590291 AI823479 NM_175873 AI744123 BG704014 AK090823

N79411 N49602 AK092782 BM790201 AX747727 N46913 AI521784 AW297103

AI914291 AI973127 CB047422 BF445519 CB047421 AI284917 AI281232 N62511

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

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

About this image

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

4 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Eye

Inner Nuclear Layer

Mature Horizontal Cells

Horizontal, Retina

Brain

Head Mesenchyme

Liver

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

PureStem™ progenitor EN27 (Embryonic Progenitor Cell)

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

SOURCE GeneReport for Unigene cluster: Hs.13308

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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 SOWAHA gene from 4/16 species (see all 16) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Sowaha^{1 , 5}	sosondowah ankyrin repeat domain family member A^{1, 5}	77.9(n)¹ 79.44(a)¹		11 (31.95 cM)⁵ 237761¹ NM_183173.2¹ NP_898996.2¹ 53476573⁵
chicken (Gallus gallus)	Aves	LOC100858291¹	ankyrin repeat domain-containing protein 43-like	60(n) 51.57(a)		100858291 XM_003642092.1 XP_003642140.1
zebrafish (Danio rerio)	Actinopterygii	BM316790.1²	--	69.09(n)		BM316790.1
fruit fly (Drosophila melanogaster)	Insecta	sowah⁶	sosondowah	13(a)	1 → many	3L(12530613-12565642)

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

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

Paralogs for SOWAHA gene

SOWAHB² SOWAHC² SOWAHD²

SOWAHA 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 5 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs76273078^1,2	C,F	--	132147059(+)	`GTGCGT/CGCCCT`	1	--	us2k¹		1		WA	118
rs184482582^1,2		--	132147202(+)	`GTATAA/CTACTA`	1	--	us2k¹		0	--	--	--	--
rs138585453^1,2		--	132147226(+)	`CTATCA/TTTAAA`	1	--	us2k¹		0	--	--	--	--
rs62385316^1,2	C	--	132147306(+)	`GGAAAT/CGTTTA`	1	--	us2k¹		2		NA	122
rs149334350^1,2		--	132147368(+)	`TTGGAC/TTGGGG`	1	--	us2k¹		0	--	--	--	--
rs189405641^1,2		--	132147387(+)	`CCCTTC/TACATT`	1	--	us2k¹		0	--	--	--	--
rs56209561^1,2	C	--	132147446(+)	`TACTAA/CTAATA`	1	--	us2k¹		2		WA	120
rs144594857^1,2		--	132147459(+)	`TCAAAC/TGATTA`	1	--	us2k¹		0	--	--	--	--
rs148515893^1,2		--	132147616(+)	`AGAGCC/GAGAAC`	1	--	us2k¹		0	--	--	--	--
rs77861740^1,2	C,F	--	132147653(+)	`TCTTGT/CTTTCT`	1	--	us2k¹		1		WA	118

HapMap Linkage Disequilibrium report for SOWAHA (132149033 - 132152489 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for SOWAHA: --

SABiosciences Cancer Mutation PCR Assays

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(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

(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 SOWAHA gene integrated from 9 sources:
(articles sorted by number of sources associating them with SOWAHA)

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

An ancient genomic regulatory block conserved across bilaterians and its dismantling in tetrapods by retrogene replacement. (PubMed id 22234889)^{1, 3} Maeso I....Garcia-FernA ndez J. (2012)
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)
The DNA sequence and comparative analysis of human chromosome 5. (PubMed id 15372022)² Schmutz J.... Rubin E.M. (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: 134548	HGNC: 27033	AceView: LOC134548	Ensembl:ENSG00000198944	euGenes: HUgn134548
ECgene: SOWAHA	H-InvDB: SOWAHA

(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 SOWAHA	Pharmacogenomics, SNPs, Pathways

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

About This Section

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

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

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Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section


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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SOWAHA

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

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

Sirion Biotech Customized:

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

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Category			VWF (GIFTS: 73) von Willebrand factor
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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

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SOWAHA Gene

sosondowah ankyrin repeat domain family member A

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SOWAHA Gene

sosondowah ankyrin repeat domain family member A

Aliasesfor SOWAHA gene

Summariesfor SOWAHA gene

Genomic Viewsfor SOWAHA gene

Proteinsfor SOWAHA gene

Protein Domains /Familiesfor SOWAHA gene

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Expression for SOWAHA gene

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External Searches for SOWAHA gene

Genome Databases showing SOWAHA gene

Other Databases showing SOWAHA gene

Specialized Databases showing SOWAHA gene

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Productsfor SOWAHA gene

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Aliases
for SOWAHA gene

Summaries
for SOWAHA gene

Genomic Views
for SOWAHA gene

Proteins
for SOWAHA gene

Protein Domains /
Families
for SOWAHA gene

Function
for SOWAHA gene

Pathways & Interactions
for SOWAHA gene

Drugs & Compounds
for SOWAHA gene

Transcripts
for SOWAHA gene

Expression
for SOWAHA gene

Orthologs
for SOWAHA gene

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for SOWAHA gene

Genomic Variants
for SOWAHA gene

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for SOWAHA gene

Publications
for SOWAHA gene

Intellectual Property
for SOWAHA gene

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for SOWAHA gene