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ENSA Gene

protein-coding GIFtS: 60
GCID: GC01M150595

Endosulfine Alpha

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MalaCards

disease database

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

Aliases
Endosulfine Alpha¹ ²
ARPP-19e² ³
alpha-endosulfine²

External Ids:	HGNC: 3360¹	Entrez Gene: 2029²	Ensembl: ENSG00000143420⁷	OMIM: 603061⁵	UniProtKB: O43768³

Export aliases for ENSA gene to outside databases

Previous GC identifers: GC01M148437 GC01M146342 GC01M147368 GC01M147811 GC01M147408 GC01M148840 GC01M148861 GC01M150574 GC01M121972 GC01M150577

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

Entrez Gene summary for ENSA Gene:

The protein encoded by this gene belongs to a highly conserved cAMP-regulated phosphoprotein (ARPP) family. This

protein was identified as an endogenous ligand for the sulfonylurea receptor, ABCC8/SUR1. ABCC8 is the regulatory

subunit of the ATP-sensitive potassium (KATP) channel, which is located on the plasma membrane of pancreatic beta

cells and plays a key role in the control of insulin release from pancreatic beta cells. This protein is thought

to be an endogenous regulator of KATP channels. In vitro studies have demonstrated that this protein modulates

insulin secretion through the interaction with KATP channel, and this gene has been proposed as a candidate gene

for type 2 diabetes. At least eight alternatively spliced transcript variants encoding distinct isoforms have

been observed. (provided by RefSeq, Jul 2008)

GeneCards Summary for ENSA Gene:

ENSA (endosulfine alpha) is a protein-coding gene. GO annotations related to this gene include protein phosphatase type 2A regulator activity and receptor binding. An important paralog of this gene is ARPP19.

UniProtKB/Swiss-Prot: ENSA_HUMAN, O43768

Function: Protein phosphatase inhibitor that specifically inhibits protein phosphatase 2A (PP2A) during mitosis.

When phosphorylated at Ser-67 during mitosis, specifically interacts with PPP2R2D (PR55-delta) and inhibits its

activity, leading to inactivation of PP2A, an essential condition to keep cyclin-B1-CDK1 activity high during M

phase (By similarity). Also acts as a stimulator of insulin secretion by interacting with sulfonylurea receptor

(ABCC8), thereby preventing sulfonylurea from binding to its receptor and reducing K(ATP) channel currents

Gene Wiki entry for ENSA Gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence at NCBI GenBank:

NC_000001.10 NC_018912.2 NT_004487.20

Regulatory elements:

Regulatory transcription factor binding sites in the ENSA gene promoter:
HOXA9 HOXA9B p53 AML1a CP2 Evi-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ENSA promoter sequence

Search Chromatin IP Primers for ENSA

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ENSA

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

Entrez Gene cytogenetic band: 1q21.3 Ensembl cytogenetic band: 1q21.3 HGNC cytogenetic band: 1q21.3

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

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01M150595: view genomic region (about GC identifiers)

Start:	150,573,327 bp from pter	End:	150,602,098 bp from pter
Size:	28,772 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
About This Section

UniProtKB/Swiss-Prot: ENSA_HUMAN, O43768 (See protein sequence)

Recommended Name: Alpha-endosulfine

Size: 121 amino acids; 13389 Da

Subunit: Interacts (when phosphorylated at Ser-67) with PPP2R2D (By similarity). Interacts with ABCC8. Interacts

with SNCA; interaction is disrupted when phosphorylated at Ser-109

Secondary accessions: A8K1Z9 E9PB69 Q5T5H2 Q68D48 Q6FHW0 Q6IAM4 Q6NUL2 Q6VUC6 Q6VUC7 Q6VUC8

Q6VUC9 Q6VUD0 Q6VUD1 Q9NRZ0

Alternative splicing: 9 isoforms: O43768-1 O43768-2 O43768-3 O43768-4 O43768-5 O43768-6 O43768-7 O43768-8

O43768-9 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ENSA: NX_O43768

Explore proteomics data for ENSA at MOPED

Post-translational modifications:

Phosphorylation at Ser-67 by GWL during mitosis is essential for interaction with PPP2R2D (PR55-delta) and

subsequent inactivation of PP2A (By similarity). Phosphorylated by PKA¹

Ubiquitination² at Lys63, Lys74

Modification sites at PhosphoSitePlus

See ENSA Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (8 alternative transcripts):

NP_004427.1 NP_996925.1 NP_996926.1 NP_996927.1 NP_996928.1 NP_996929.1 NP_996930.1 NP_997051.1

ENSEMBL proteins:

ENSP00000358012 ENSP00000358010 ENSP00000354835 ENSP00000355239 ENSP00000426110

ENSP00000341743 ENSP00000271690 ENSP00000348921 ENSP00000422343 ENSP00000421458

ENSP00000424242 ENSP00000355220 ENSP00000358005

Reactome Protein details: O43768

ENSA Human Recombinant Protein Products:

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	Novus Biologicals ENSA Proteins Novus Biologicals ENSA Lysates
	Sino Biological Recombinant Protein for ENSA Browse Sino Biological Cell Lysates
	ProSpec Recombinant Protein for ENSA
	Browse Proteins at Cloud-Clone Corp.
	Search eBioscience for Proteins for ENSA
	antibodies-online proteins for ENSA (21 products)
	antibodies-online peptides for ENSA

ENSA Antibody Products:

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	Novus Biologicals ENSA Antibodies
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	ThermoFisher Antibody for ENSA
	antibodies-online antibodies for ENSA (36 products)

ENSA Assay Products:

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	Browse Enzo Life Sciences for kits & assays
	Browse ELISAs at Cloud-Clone Corp. Browse CLIAs at Cloud-Clone Corp.
	Search eBioscience for ELISAs for ENSA
	antibodies-online kits for ENSA (14 products)

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

1 InterPro protein domain:

IPR006760 Endosulphine

Graphical View of Domain Structure for InterPro Entry O43768

ProtoNet protein and cluster: O43768

1 Blocks protein domain: IPB006760 cAMP-regulated phosphoprotein/endosulfine conserved region

UniProtKB/Swiss-Prot: ENSA_HUMAN, O43768

Similarity: Belongs to the endosulfine family

Find genes that share domains with ENSA About GenesLikeMe

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: ENSA_HUMAN, O43768

Function: Protein phosphatase inhibitor that specifically inhibits protein phosphatase 2A (PP2A) during mitosis.

When phosphorylated at Ser-67 during mitosis, specifically interacts with PPP2R2D (PR55-delta) and inhibits its

activity, leading to inactivation of PP2A, an essential condition to keep cyclin-B1-CDK1 activity high during M

phase (By similarity). Also acts as a stimulator of insulin secretion by interacting with sulfonylurea receptor

(ABCC8), thereby preventing sulfonylurea from binding to its receptor and reducing K(ATP) channel currents

Genatlas biochemistry entry for ENSA:

alpha endosulfine,endogenous regulator of the beta-cell K (ATP) channel,inhibiting sulfonylurea binding to beta

cell membranes and stimulating insulin secretion

Gene Ontology (GO): Selected molecular function terms (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004864	protein phosphatase inhibitor activity	IEA	--
GO:0005102	receptor binding	TAS	9653196
GO:0008200	ion channel inhibitor activity	TAS	9653196
GO:0008601	protein phosphatase type 2A regulator activity	ISS	--
GO:0019212	phosphatase inhibitor activity	ISS	--

Find genes that share ontologies with ENSA About GenesLikeMe

Animal Models:

genOway: Develop your customized and physiologically relevant rodent model for ENSA

miRNA Products:		miRTarBase miRNAs that target ENSA: hsa-mir-877-3p (MIRT036994), hsa-let-7e-5p (MIRT051695)

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		Selected qRT-PCR Assays for microRNAs that regulate ENSA (see all 31):
		hsa-miR-136 hsa-miR-331-3p hsa-miR-374a hsa-miR-486-3p hsa-miR-138-2* hsa-miR-410 hsa-miR-766 hsa-miR-103a

		Browse SwitchGear 3'UTR luciferase reporter plasmids

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for ENSA
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Gene Editing
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DNA2.0 Custom Protein Engineering Service for ENSA

Clone Products:		OriGene clones in human, mouse for ENSA (see all 47) OriGene ORF clones in mouse, rat for ENSA OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 8): ENSA (NM_207045)
		Sino Biological Human cDNA Clone for ENSA
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for ENSA
		Browse ESI BIO Cell Lines and PureStem Progenitors for ENSA

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ENSA

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
About This Section

Subcellular locations from UniProtKB/Swiss-Prot

ENSA_HUMAN, O43768: Cytoplasm (By similarity)

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
nucleus	4
cytosol	2
extracellular	1
plasma membrane	1

About this image

Gene Ontology (GO): 2 cellular component terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005654	nucleoplasm	TAS	--
GO:0005737	cytoplasm	IEA	--

Find genes that share ontologies with ENSA About GenesLikeMe

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
About This Section

SuperPaths for ENSA About

See pathways by source

Powered
by

SuperPath

Contained pathways About

Cell Cycle, Mitotic

	Cell Cycle, Mitotic	0.90			M Phase	0.62
	Cell Cycle	0.90

RNA Polymerase I Promoter Opening

Mitotic Prophase

0.56

MASTL Facilitates Mitotic Progression

0.00

Cell Cycle / Checkpoint Control

Cell Cycle / Checkpoint Control

0.32

Find genes that share SuperPaths with ENSA About GenesLikeMe

Pathways by source See SuperPaths
Show all pathways

1 Cell Signaling Technology (CST) Pathway for ENSA

Cell Cycle / Checkpoint Control

1 Reactome Pathway for ENSA

MASTL Facilitates Mitotic Progression

Custom Pathway & Disease-focused RT² Profiler PCR Arrays for ENSA
Interactions:

Search GeneGlobe Interaction Network for ENSA

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for ENSA (O43768^{1, 2, 3} ENSP00000341743⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 32)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ARIH2	O95376²^,³	MINT-63298 I2D: score=5
ENO2	P09104²^,³	MINT-63435 I2D: score=4
KCTD15	Q96SI1²^,³	MINT-65372 I2D: score=4
MCM3	P25205¹^,³, ENSP00000229854⁴	EBI-714511,EBI-355153 I2D: score=2 STRING: ENSP00000229854
ABCC8	Q09428³, ENSP00000374467⁴	I2D: score=2 STRING: ENSP00000374467

About this table

Gene Ontology (GO): Selected biological process terms (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000086	G2/M transition of mitotic cell cycle	ISS	--
GO:0000278	mitotic cell cycle	TAS	--
GO:0006810	transport	TAS	9653196
GO:0007067	mitosis	ISS	--
GO:0007584	response to nutrient	TAS	9653196

Find genes that share ontologies with ENSA About GenesLikeMe

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for ENSA

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
About This Section

REFSEQ mRNAs for ENSA gene (8 alternative transcripts):

NM_004436.2 NM_207042.1 NM_207043.1 NM_207044.1 NM_207045.1 NM_207046.1 NM_207047.1 NM_207168.1

Unigene Cluster for ENSA:

Endosulfine alpha

Hs.632456 [show with all ESTs]

Unigene Representative Sequence: NM_207043

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

ENST00000369016 ENST00000369014(uc001evb.3 uc001evc.3 uc001evd.3 uc001eve.3)

ENST00000361532 ENST00000361631 ENST00000509582 ENST00000339643 ENST00000271690(uc001evf.3 uc001evg.3 uc001evh.3)

ENST00000356527(uc009wly.3) ENST00000513281 ENST00000505321 ENST00000503345

ENST00000354702 ENST00000503241 ENST00000362052(uc001evi.3) ENST00000369009(uc009wlz.1)

miRNA Products:		Block miRNA regulation of human, mouse, rat ENSA using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate ENSA (see all 31):
		hsa-miR-136 hsa-miR-331-3p hsa-miR-374a hsa-miR-486-3p hsa-miR-138-2* hsa-miR-410 hsa-miR-766 hsa-miR-103a

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		GenScript: all cDNA clones in your preferred vector (see all 8): ENSA (NM_207045)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for ENSA
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ENSA

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		Pre-validated RT² qPCR Primer Assay in human, mouse, rat ENSA
		QuantiTect SYBR Green Assays in human, mouse, rat ENSA
		QuantiFast Probe-based Assays in human, mouse, rat ENSA

Additional mRNA sequence:

AF067170.1 AF157509.1 AF157510.1 AK001981.1 AK290064.1 BC000436.2 BC004461.1 BC068544.1

BC069208.1 CR457130.1 CR536578.1 CR749580.1 X99906.1

Selected DOTS entries (see all 34):

DT.100742886 DT.100742910 DT.443946 DT.95277346 DT.102837884 DT.102837898 DT.102837897 DT.100742893

DT.100742888 DT.100742899 DT.312768 DT.99927234 DT.102837882 DT.101958053 DT.99926499 DT.100724588

DT.120787261 DT.95283642 DT.97760222 DT.100642581 DT.100847016 DT.100678349 DT.100860474 DT.121360926

Selected AceView cDNA sequences (see all 766):

AA343584 BI335758 AI161260 AA815200 CB155540 NM_207043 AW469991 AA099686

BU687378 AW173708 BM793890 AI480115 AI857905 AI625303 BP355295 BE791045

BU679472 AI670760 CR607991 AA046152 BX402320 BU726992 BM717046 AA652319

GeneLoc Exon Structure

Selected Alternative Splicing Database (ASD) splice patterns (SP) for ENSA (see all 12) About this scheme

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

ECgene alternative splicing isoforms for ENSA

(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™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

ENSA expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: AAAAAACCCA

About this image

ENSA expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 17) fully expand


Brain (Nervous System)
Cerebral Cortex

Bone (Muscoskeletal System)
Bone Marrow

Colon (Gastrointestinal Tract)

Uterus (Reproductive System)

Thyroid (Endocrine System)

ENSA Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

ENSA Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.632456

UniProtKB/Swiss-Prot: ENSA_HUMAN, O43768

Tissue specificity: Widely expressed with high levels in skeletal muscle and brain and lower levels in the

pancreas

Custom PCR Arrays for ENSA

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ENSA

(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 ENSA gene from Selected species (see all 13) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Ensa^{1 , 5}	endosulfine alpha^{1, 5}	96.01(n)¹ 98.29(a)¹		3 (40.74 cM)⁵ 56205¹ NM_019561.2¹ NP_062507.1¹ 95624980⁵
chicken (Gallus gallus)	Aves	ENSA¹	endosulfine alpha	80.69(n) 89.72(a)		425073 NM_001007965.1 NP_001007966.1
lizard (Anolis carolinensis)	Reptilia	ENSA⁶	endosulfine alpha	77(a)	1 ↔ 1	GL343779.1(157796-166014)
African clawed frog (Xenopus laevis)	Amphibia	MGC68564²	hypothetical protein MGC68564	79.61(n)		BC063723.1
zebrafish (Danio rerio)	Actinopterygii	ensab¹	endosulfine alpha b	73.51(n) 83.04(a)		100317933 NM_001256731.1 NP_001243660.1
fruit fly (Drosophila melanogaster)	Insecta	endos⁶	endosulfine	48(a)	1 → many	3L(14022679-14024806)

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

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

Paralogs for ENSA gene

ARPP19²

14 SIMAP similar genes for ENSA using alignment to 4 protein entries: ENSA_HUMAN (see all proteins):

NF2 AURA2 ZNF20 ZNF564 ARPP19 FAM175A

LINC00596 TMEM14B MYB DNAPTP3 EIF3L GLT8D2

HMGA2 SH3PXD2A

Find genes that share paralogs with ENSA About GenesLikeMe

3 Pseudogenes.org Pseudogenes for ENSA
PGOHUM00000247876 PGOHUM00000247449 PGOHUM00000241105

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
About This Section

SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs140626441^1,2	C	--	121974557(+)	`GATGC-/AGAGATT`	7	--	int¹ ut3¹		0	--	--	--	--
rs74891620^1,2	C	--	121974560(+)	`GCAGA-/GATTTCT`	7	--	int¹ ut3¹		0	--	--	--	--
rs190942315^1,2		--	157095612(+)	`GTAGCA/GGGTTT`	4	--	ds500¹		0	--	--	--	--
rs112407752^1,2	C,F	--	157095635(+)	`ATTGGC/TACATC`	4	--	ds500¹		1		NA	2
rs115406107^1,2	F	--	157095642(+)	`CATCAT/AGAGGA`	4	--	ds500¹		1		NA	120
rs147572956^1,2		--	157095927(+)	`TGGTTA/GCAGAA`	4	--	ds500¹		0	--	--	--	--
rs1053701^1,2	C,F,H	--	157096188(-)	`TGGGAG/AAAAGG`	4	--	ut3¹ ese³ trp³		14		MN NS EA NA	2014
rs141944696^1,2		--	157096253(+)	`AATGAA/TTAATG`	4	--	ut3¹		0	--	--	--	--
rs146911121^1,2	C	--	157096313(+)	`CTGTGA/CGGATG`	4	--	ut3¹		0	--	--	--	--
rs186747174^1,2		--	157096314(+)	`TGTGCA/GGATGG`	4	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for ENSA (150573327 - 150602098 bp)

Structural Variations
Database of Genomic Variants (DGV) 1 variation for ENSA: About this table

Variant ID	Type	Subtype	PubMed ID
esv24209	CNV	Loss	19812545

Human Gene Mutation Database (HGMD): ENSA

Site Specific Mutation Identification with 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

OMIM gene information: 603061 OMIM disorders: --

Find genes that share disorders with ENSA About GenesLikeMe

Genetic Association Database (GAD): ENSA

Export disorders for ENSA 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 ENSA gene, integrated from 10 sources (see all 33):
(articles sorted by number of sources associating them with ENSA)

Utopia: connect your pdf to the dynamic
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Human alpha-endosulfine, a possible regulator of sulfonylurea- sensitive K(ATP) channel: molecular cloning, expression and biological properties. (PubMed id 9653196)^{1, 2, 3} Heron L.... Bataille D. (Proc. Natl. Acad. Sci. U.S.A. 1998)
The transcribed endosulfine alpha gene is located within a type 2 diabetes-linked region on 1q: sequence and expression analysis in Pima Indians. (PubMed id 14728987)^{1, 2, 9} Thameem F.... Prochazka M. (Mol. Genet. Metab. 2004)
Isolation, characterization, and chromosomal localization of the human ENSA gene that encodes alpha-endosulfine, a regulator of beta- cell K(ATP) channels. (PubMed id 10480622)^{1, 2, 9} Heron L.... Bataille D. (Diabetes 1999)
Membrane-induced folding of the cAMP-regulated phosphoprotein endosulfine-alpha. (PubMed id 18973346)^{1, 2} Boettcher J.M.... Rienstra C.M. (Biochemistry 2008)
Conformation-specific binding of alpha-synuclein to novel protein partners detected by phage display and NMR spectroscopy. (PubMed id 17893145)^{1, 2} Woods W.S.... George J.M. (J. Biol. Chem. 2007)
Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)^{1, 2} Olsen J.V....Mann M. (Cell 2006)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (Nat. Genet. 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. (Genome Res. 2004)
Genome-wide association study identifies genetic risk underlying primary rhegmatogenous retinal detachment. (PubMed id 23585552)¹ Kirin M....Mitry D. (Hum. Mol. Genet. 2013)
Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)¹ Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)

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

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 2029	HGNC: 3360	AceView: ENSA	Ensembl:ENSG00000143420	euGenes: HUgn2029
ECgene: ENSA	H-InvDB: ENSA

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for ENSA	Pharmacogenomics, SNPs, Pathways

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

About This Section

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

GeneCards and IP:
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