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Gene: POTEE (POTE ankyrin domain family member E) Homo sapiens

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Symbol:

POTEE

Name:

POTE ankyrin domain family member E

RGD ID:

1604415

HGNC Page

HGNC:33895

Description:

Predicted to enable protein kinase binding activity. Predicted to be a structural constituent of postsynaptic actin cytoskeleton. Involved in substantia nigra development. Located in blood microparticle and extracellular exosome.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

A26C1; A26C1A; ANKRD26-like family C member 1A; ANKRD26-like family C, member 1A; cancer/testis antigen family 104, member 2; CT104.2; POTE ankyrin domain family, member E; POTE-2; POTE2; POTE2gamma; prostate, ovary, testis-expressed protein on chromosome 2; protein expressed in prostate, ovary, testis, and placenta 2

RGD Orthologs

Bonobo

Alliance Orthologs

More Info

more info ...

Related Pseudogenes:

POTEKP

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	2	131,209,536 - 131,265,278 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	2	131,209,536 - 131,265,278 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	2	131,967,109 - 132,022,851 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	2	131,692,394 - 131,738,886 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Cytogenetic Map	2	q21.1	NCBI
CHM1_1	2	131,979,957 - 132,025,979 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	2	131,643,505 - 131,702,729 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
POTEE	Human	(+)-haematoxylin	affects binding	EXP		6480464	Hematoxylin binds to POTEE protein	CTD	PMID:33765217
POTEE	Human	(+)-taxifolin	affects binding	EXP		6480464	taxifolin binds to POTEE protein	CTD	PMID:33765217
POTEE	Human	(-)-epigallocatechin 3-gallate	decreases expression	EXP		6480464	epigallocatechin gallate results in decreased expression of POTEE protein	CTD	PMID:31195006
POTEE	Human	(-)-matairesinol	affects binding	EXP		6480464	matairesinol binds to POTEE protein	CTD	PMID:33765217
POTEE	Human	17beta-estradiol	increases expression	EXP		6480464	Estradiol results in increased expression of POTEE mRNA	CTD	PMID:31614463
POTEE	Human	acrylamide	decreases expression	EXP		6480464	Acrylamide results in decreased expression of POTEE mRNA	CTD	PMID:32763439
POTEE	Human	all-trans-retinoic acid	increases expression	EXP		6480464	Tretinoin results in increased expression of POTEE mRNA	CTD	PMID:23724009
POTEE	Human	bis(2-ethylhexyl) phthalate	decreases expression	EXP		6480464	Diethylhexyl Phthalate results in decreased expression of POTEE mRNA	CTD	PMID:31163220
POTEE	Human	bisphenol A	decreases expression	EXP		6480464	bisphenol A results in decreased expression of POTEE mRNA	CTD	PMID:31715268
POTEE	Human	bisphenol AF	increases expression	EXP		6480464	bisphenol AF results in increased expression of POTEE protein	CTD	PMID:34186270
POTEE	Human	Bisphenol B	increases expression	EXP		6480464	bisphenol B results in increased expression of POTEE protein	CTD	PMID:34186270
POTEE	Human	bisphenol F	increases expression	EXP		6480464	bisphenol F results in increased expression of POTEE protein	CTD	PMID:34186270
POTEE	Human	butanal	increases expression	EXP		6480464	butyraldehyde results in increased expression of POTEE mRNA	CTD	PMID:26079696
POTEE	Human	caffeine	decreases expression	EXP		6480464	Caffeine results in decreased expression of POTEE protein	CTD	PMID:31195006
POTEE	Human	calcitriol	increases expression	EXP		6480464	Calcitriol results in increased expression of POTEE mRNA	CTD	PMID:21592394
POTEE	Human	calcitriol	multiple interactions	EXP		6480464	[Testosterone co-treated with Calcitriol] results in increased expression of POTEE mRNA	CTD	PMID:21592394
POTEE	Human	crocidolite asbestos	increases methylation	EXP		6480464	Asbestos and Crocidolite results in increased methylation of POTEE 5' UTR	CTD	PMID:29523930
POTEE	Human	doxorubicin	increases expression	EXP		6480464	Doxorubicin results in increased expression of POTEE mRNA	CTD	PMID:29803840
POTEE	Human	N-methyl-4-phenylpyridinium	decreases expression	EXP		6480464	1-Methyl-4-phenylpyridinium results in decreased expression of POTEE protein	CTD	PMID:24675778
POTEE	Human	paracetamol	decreases expression	EXP		6480464	Acetaminophen results in decreased expression of POTEE protein	CTD	PMID:22230336
POTEE	Human	propanal	increases expression	EXP		6480464	propionaldehyde results in increased expression of POTEE mRNA	CTD	PMID:26079696
POTEE	Human	quercetin	affects binding	EXP		6480464	Quercetin binds to POTEE protein	CTD	PMID:33765217
POTEE	Human	testosterone	multiple interactions	EXP		6480464	[Testosterone co-treated with Calcitriol] results in increased expression of POTEE mRNA	CTD	PMID:21592394
POTEE	Human	testosterone	increases expression	EXP		6480464	Testosterone results in increased expression of POTEE mRNA	CTD	PMID:21592394
POTEE	Human	valproic acid	increases methylation	EXP		6480464	Valproic Acid results in increased methylation of POTEE gene	CTD	PMID:29154799

Biological Process

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
POTEE	Human	axonogenesis	involved_in	IBA	PANTHER:PTN007551913 and Actb (Rattus norvegicus)	150520179		GO_Central	GO_REF:0000033
POTEE	Human	cell motility	involved_in	IBA	PANTHER:PTN007551913 and UniProtKB:P60709	150520179		GO_Central	GO_REF:0000033
POTEE	Human	postsynaptic actin cytoskeleton organization	involved_in	IEA	GO:0098973	150520179		GOC	GO_REF:0000108
POTEE	Human	substantia nigra development	involved_in	HEP		150520179	PMID:22926577	UniProt	PMID:22926577

Cellular Component

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
POTEE	Human	actin cytoskeleton	is_active_in	IBA	CGD:CAL0000191211 more ...	150520179		GO_Central	GO_REF:0000033
POTEE	Human	actin filament	is_active_in	IBA	MGI:87906 more ...	150520179		GO_Central	GO_REF:0000033
POTEE	Human	axon	is_active_in	IBA	MGI:87904 more ...	150520179		GO_Central	GO_REF:0000033
POTEE	Human	blood microparticle	located_in	HDA		150520179	PMID:22516433	UniProt	PMID:22516433
POTEE	Human	cytoplasm	is_active_in	IBA	MGI:87904 more ...	150520179		GO_Central	GO_REF:0000033
POTEE	Human	extracellular exosome	located_in	HDA		150520179	PMID:23533145	UniProt	PMID:23533145
POTEE	Human	extracellular space	located_in	HDA		150520179	PMID:22664934 and PMID:23580065	UniProt	PMID:22664934 and PMID:23580065
POTEE	Human	membrane	is_active_in	IBA	PANTHER:PTN007551913 more ...	150520179		GO_Central	GO_REF:0000033
POTEE	Human	NuA4 histone acetyltransferase complex	part_of	IBA	PANTHER:PTN007551913 and UniProtKB:P60709	150520179		GO_Central	GO_REF:0000033
POTEE	Human	synapse	is_active_in	IBA	MGI:2444552 more ...	150520179		GO_Central	GO_REF:0000033

Molecular Function

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
POTEE	Human	protein binding	enables	IPI	UniProtKB:P41597	150520179	PMID:28514442 and PMID:33961781	IntAct	PMID:28514442 and PMID:33961781
POTEE	Human	protein kinase binding	enables	IBA	PANTHER:PTN007551913 more ...	150520179		GO_Central	GO_REF:0000033
POTEE	Human	structural constituent of postsynaptic actin cytoskeleton	enables	IBA	PANTHER:PTN002631586 more ...	150520179		GO_Central	GO_REF:0000033

#	Reference Title	Reference Citation
1.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

PMID:15276201	PMID:16364570	PMID:16824795	PMID:17101985	PMID:18447647	PMID:19669888	PMID:21800051	PMID:21873635	PMID:22266860	PMID:22516433	PMID:22664934	PMID:22926577
PMID:23533145	PMID:23580065	PMID:23686814	PMID:24189400	PMID:24457600	PMID:24778252	PMID:24969553	PMID:25331947	PMID:25798074	PMID:26186194	PMID:27462432	PMID:28514442
PMID:29507755	PMID:29676528	PMID:29845934	PMID:30209976	PMID:30258100	PMID:30391463	PMID:30420269	PMID:31180492	PMID:31343991	PMID:31409639	PMID:31501420	PMID:31527615
PMID:31586073	PMID:31723122	PMID:31815296	PMID:31871319	PMID:32142855	PMID:32203420	PMID:32433965	PMID:32589786	PMID:32780723	PMID:32877691	PMID:33022573	PMID:33863777
PMID:33961781	PMID:34079125	PMID:34349018	PMID:34644545	PMID:34662580	PMID:35031058	PMID:35271311	PMID:35575683	PMID:35676659	PMID:36042349	PMID:36168628	PMID:37117185
PMID:38334954	PMID:38580884

POTEE
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	2	131,209,536 - 131,265,278 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	2	131,209,536 - 131,265,278 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	2	131,967,109 - 132,022,851 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	2	131,692,394 - 131,738,886 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Cytogenetic Map	2	q21.1	NCBI
CHM1_1	2	131,979,957 - 132,025,979 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	2	131,643,505 - 131,702,729 (+)	NCBI		T2T-CHM13v2.0

LOC100978345
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	13	43,577,909 - 43,624,455 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	2B	43,592,881 - 43,639,427 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	2B	28,292,280 - 28,334,471 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	2B	132,392,494 - 132,420,066 (+)	NCBI	panpan1.1	PanPan1.1	panPan2

Variants in POTEE
7 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 2q14.1-21.3(chr2:118086324-134964738)x1	copy number loss	See cases [RCV000054058]	Chr2:118086324..134964738 [GRCh38] Chr2:118843900..135722308 [GRCh37] Chr2:118560370..135438778 [NCBI36] Chr2:2q14.1-21.3	pathogenic
NM_001083538.1(POTEE):c.474C>T (p.Ile158=)	single nucleotide variant	Malignant melanoma [RCV000060320]	Chr2:131218876 [GRCh38] Chr2:131976449 [GRCh37] Chr2:131692919 [NCBI36] Chr2:2q21.1	not provided
NM_001083538.1(POTEE):c.58C>T (p.Leu20Phe)	single nucleotide variant	Malignant melanoma [RCV000065066]	Chr2:131218460 [GRCh38] Chr2:131976033 [GRCh37] Chr2:131692503 [NCBI36] Chr2:2q21.1	not provided
GRCh38/hg38 2q21.1(chr2:130743933-131340280)x3	copy number gain	See cases [RCV000133633]	Chr2:130743933..131340280 [GRCh38] Chr2:131501506..132097853 [GRCh37] Chr2:131217976..131814323 [NCBI36] Chr2:2q21.1	uncertain significance
GRCh38/hg38 2q21.1(chr2:130743933-131549753)x1	copy number loss	See cases [RCV000137130]	Chr2:130743933..131549753 [GRCh38] Chr2:131501506..132307326 [GRCh37] Chr2:131217976..132023796 [NCBI36] Chr2:2q21.1	likely pathogenic\|uncertain significance
GRCh38/hg38 2q14.3-22.1(chr2:123445762-140592538)x1	copy number loss	See cases [RCV000136714]	Chr2:123445762..140592538 [GRCh38] Chr2:124203338..141350107 [GRCh37] Chr2:123919808..141066577 [NCBI36] Chr2:2q14.3-22.1	pathogenic
GRCh38/hg38 2q21.1(chr2:130594216-131310557)x3	copy number gain	See cases [RCV000137619]	Chr2:130594216..131310557 [GRCh38] Chr2:131351789..132068130 [GRCh37] Chr2:131068259..131784600 [NCBI36] Chr2:2q21.1	uncertain significance
GRCh38/hg38 2q21.1(chr2:130743933-131451535)x1	copy number loss	See cases [RCV000137148]	Chr2:130743933..131451535 [GRCh38] Chr2:131501506..132209108 [GRCh37] Chr2:131217976..131925578 [NCBI36] Chr2:2q21.1	uncertain significance
GRCh38/hg38 2q21.1(chr2:130720173-131278036)x1	copy number loss	See cases [RCV000140905]	Chr2:130720173..131278036 [GRCh38] Chr2:131477746..132035609 [GRCh37] Chr2:131194216..131752079 [NCBI36] Chr2:2q21.1	likely pathogenic
GRCh38/hg38 2q21.1-21.2(chr2:131100857-132436431)x3	copy number gain	See cases [RCV000141447]	Chr2:131100857..132436431 [GRCh38] Chr2:131858430..133194004 [GRCh37] Chr2:131574900..132910474 [NCBI36] Chr2:2q21.1-21.2	uncertain significance
GRCh38/hg38 2q21.1(chr2:130684164-131278036)x3	copy number gain	See cases [RCV000142308]	Chr2:130684164..131278036 [GRCh38] Chr2:131441737..132035609 [GRCh37] Chr2:131158207..131752079 [NCBI36] Chr2:2q21.1	uncertain significance
GRCh38/hg38 2q21.1(chr2:130720374-131388759)x3	copy number gain	See cases [RCV000143474]	Chr2:130720374..131388759 [GRCh38] Chr2:131477947..132146332 [GRCh37] Chr2:131194417..131862802 [NCBI36] Chr2:2q21.1	likely benign
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3	copy number gain	not provided [RCV000752802]	Chr2:14238..243048760 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
GRCh37/hg19 2q21.1(chr2:131477746-132280823)x1	copy number loss	See cases [RCV000447366]	Chr2:131477746..132280823 [GRCh37] Chr2:2q21.1	uncertain significance
GRCh37/hg19 2q21.1(chr2:131438951-131976059)x3	copy number gain	See cases [RCV000446421]	Chr2:131438951..131976059 [GRCh37] Chr2:2q21.1	likely benign
GRCh37/hg19 2q14.3-22.1(chr2:128490257-138210164)x1	copy number loss	See cases [RCV000445892]	Chr2:128490257..138210164 [GRCh37] Chr2:2q14.3-22.1	pathogenic
GRCh37/hg19 2q21.1(chr2:131485402-132024166)	copy number gain	Abnormal esophagus morphology [RCV000416767]	Chr2:131485402..132024166 [GRCh37] Chr2:2q21.1	likely benign
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	copy number gain	See cases [RCV000512056]	Chr2:12771..242783384 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
GRCh37/hg19 2q21.1(chr2:131477746-131993678)x3	copy number gain	See cases [RCV000512092]	Chr2:131477746..131993678 [GRCh37] Chr2:2q21.1	uncertain significance
GRCh37/hg19 2q21.1-21.2(chr2:130920847-134220436)x3	copy number gain	See cases [RCV000511730]	Chr2:130920847..134220436 [GRCh37] Chr2:2q21.1-21.2	uncertain significance
GRCh37/hg19 2q21.1(chr2:131440484-132063736)x3	copy number gain	See cases [RCV000511472]	Chr2:131440484..132063736 [GRCh37] Chr2:2q21.1	uncertain significance
Single allele	deletion	not provided [RCV000714264]	Chr2:40608411..146900718 [GRCh37] Chr2:2p22.1-q22.3	likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	copy number gain	See cases [RCV000511212]	Chr2:12771..242783384 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1	copy number loss	Poly (ADP-Ribose) polymerase inhibitor response [RCV000626436]	Chr2:104172062..168223828 [GRCh37] Chr2:2q12.1-24.3	drug response
GRCh37/hg19 2q21.1(chr2:131477947-132048781)x3	copy number gain	See cases [RCV000512248]	Chr2:131477947..132048781 [GRCh37] Chr2:2q21.1	uncertain significance
GRCh37/hg19 2q14.2-22.1(chr2:120571363-141627287)x1	copy number loss	See cases [RCV000512348]	Chr2:120571363..141627287 [GRCh37] Chr2:2q14.2-22.1	pathogenic
GRCh37/hg19 2q21.1(chr2:131477947-132048781)x1	copy number loss	not provided [RCV000682088]	Chr2:131477947..132048781 [GRCh37] Chr2:2q21.1	likely benign\|uncertain significance
GRCh37/hg19 2q21.1(chr2:131440484-132126860)x3	copy number gain	not provided [RCV000682100]	Chr2:131440484..132126860 [GRCh37] Chr2:2q21.1	uncertain significance
GRCh37/hg19 2q21.1(chr2:131991166-132234986)x3	copy number gain	not provided [RCV000753128]	Chr2:131991166..132234986 [GRCh37] Chr2:2q21.1	benign
GRCh37/hg19 2q21.1(chr2:131463331-132249175)x3	copy number gain	not provided [RCV000753124]	Chr2:131463331..132249175 [GRCh37] Chr2:2q21.1	benign
GRCh37/hg19 2q21.1(chr2:131935190-132199790)x3	copy number gain	not provided [RCV000753126]	Chr2:131935190..132199790 [GRCh37] Chr2:2q21.1	benign
GRCh37/hg19 2q21.1(chr2:131947586-132307088)x3	copy number gain	not provided [RCV000753127]	Chr2:131947586..132307088 [GRCh37] Chr2:2q21.1	benign
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3	copy number gain	not provided [RCV000752804]	Chr2:15672..243101834 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
GRCh37/hg19 2q21.1(chr2:131464431-132221814)x3	copy number gain	not provided [RCV000753125]	Chr2:131464431..132221814 [GRCh37] Chr2:2q21.1	benign
GRCh37/hg19 2q21.1(chr2:131487820-132166509)	copy number loss	not provided [RCV000767701]	Chr2:131487820..132166509 [GRCh37] Chr2:2q21.1	pathogenic
GRCh37/hg19 2q21.1(chr2:131477947-132280823)x1	copy number loss	not provided [RCV001005317]	Chr2:131477947..132280823 [GRCh37] Chr2:2q21.1	uncertain significance
GRCh37/hg19 2q21.1(chr2:131852846-131993862)x3	copy number gain	not provided [RCV000847668]	Chr2:131852846..131993862 [GRCh37] Chr2:2q21.1	uncertain significance
GRCh37/hg19 2q21.1(chr2:131391068-132046784)x3	copy number gain	not provided [RCV000850030]	Chr2:131391068..132046784 [GRCh37] Chr2:2q21.1	uncertain significance
GRCh37/hg19 2q14.3-21.2(chr2:122952356-133826358)x1	copy number loss	See cases [RCV001194541]	Chr2:122952356..133826358 [GRCh37] Chr2:2q14.3-21.2	likely pathogenic
GRCh37/hg19 2q21.1-21.2(chr2:130916858-134213436)x3	copy number gain	not provided [RCV000846479]	Chr2:130916858..134213436 [GRCh37] Chr2:2q21.1-21.2	uncertain significance
GRCh37/hg19 2q21.1(chr2:131477947-131997817)x3	copy number gain	not provided [RCV000848971]	Chr2:131477947..131997817 [GRCh37] Chr2:2q21.1	uncertain significance
GRCh37/hg19 2q21.1(chr2:131452092-132269288)x3	copy number gain	not provided [RCV000846095]	Chr2:131452092..132269288 [GRCh37] Chr2:2q21.1	uncertain significance
GRCh37/hg19 2q21.1(chr2:131441725-132267790)x3	copy number gain	not provided [RCV000845735]	Chr2:131441725..132267790 [GRCh37] Chr2:2q21.1	uncertain significance
GRCh37/hg19 2q21.1(chr2:131461909-131993678)x3	copy number gain	not provided [RCV000845717]	Chr2:131461909..131993678 [GRCh37] Chr2:2q21.1	uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	copy number gain	Mosaic trisomy 2 [RCV002280628]	Chr2:1..243199373 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
GRCh37/hg19 2q21.1(chr2:131441707-131993678)x3	copy number gain	not provided [RCV001834262]	Chr2:131441707..131993678 [GRCh37] Chr2:2q21.1	uncertain significance
GRCh37/hg19 2q21.1(chr2:131477947-132215063)x1	copy number loss	not provided [RCV001834518]	Chr2:131477947..132215063 [GRCh37] Chr2:2q21.1	uncertain significance
GRCh37/hg19 2q13-22.3(chr2:111484468-146333604)x3	copy number gain	not provided [RCV001832896]	Chr2:111484468..146333604 [GRCh37] Chr2:2q13-22.3	pathogenic
GRCh37/hg19 2q14.3-22.2(chr2:122699106-143799629)x1	copy number loss	not provided [RCV001832883]	Chr2:122699106..143799629 [GRCh37] Chr2:2q14.3-22.2	pathogenic
GRCh37/hg19 2q13-22.3(chr2:112475655-145691999)x3	copy number gain	2q13q22.3 microduplication syndrome [RCV002226436]	Chr2:112475655..145691999 [GRCh37] Chr2:2q13-22.3	pathogenic
GRCh37/hg19 2q21.1-21.2(chr2:131853044-133195255)x3	copy number gain	See cases [RCV002292205]	Chr2:131853044..133195255 [GRCh37] Chr2:2q21.1-21.2	uncertain significance
GRCh37/hg19 2q21.1(chr2:131889239-131993862)x3	copy number gain	not provided [RCV002474657]	Chr2:131889239..131993862 [GRCh37] Chr2:2q21.1	uncertain significance
GRCh37/hg19 2q21.1(chr2:131452093-132035609)x3	copy number gain	not provided [RCV002473576]	Chr2:131452093..132035609 [GRCh37] Chr2:2q21.1	uncertain significance
GRCh37/hg19 2q21.1(chr2:131974176-132269102)x1	copy number loss	not provided [RCV002474806]	Chr2:131974176..132269102 [GRCh37] Chr2:2q21.1	uncertain significance
GRCh37/hg19 2q21.1(chr2:131974176-132280823)x1	copy number loss	not provided [RCV002475825]	Chr2:131974176..132280823 [GRCh37] Chr2:2q21.1	uncertain significance
GRCh37/hg19 2q21.1-21.2(chr2:131777624-134871884)x1	copy number loss	not provided [RCV003484904]	Chr2:131777624..134871884 [GRCh37] Chr2:2q21.1-21.2	uncertain significance
GRCh37/hg19 2q21.1(chr2:130817326-132099295)x1	copy number loss	not provided [RCV003484893]	Chr2:130817326..132099295 [GRCh37] Chr2:2q21.1	uncertain significance
NM_001083538.3(POTEE):c.13G>A (p.Val5Ile)	single nucleotide variant	not provided [RCV003436172]	Chr2:131218415 [GRCh38] Chr2:131975988 [GRCh37] Chr2:2q21.1	likely benign
NM_001083538.3(POTEE):c.2157C>T (p.Ala719=)	single nucleotide variant	not provided [RCV003429280]	Chr2:131263612 [GRCh38] Chr2:132021185 [GRCh37] Chr2:2q21.1	likely benign
NM_001083538.3(POTEE):c.246T>C (p.Ala82=)	single nucleotide variant	not provided [RCV003436173]	Chr2:131218648 [GRCh38] Chr2:131976221 [GRCh37] Chr2:2q21.1	likely benign
NM_001083538.3(POTEE):c.471C>G (p.Leu157=)	single nucleotide variant	not provided [RCV003436174]	Chr2:131218873 [GRCh38] Chr2:131976446 [GRCh37] Chr2:2q21.1	likely benign
GRCh37/hg19 2q12.2-21.2(chr2:106755586-134302739)x1	copy number loss	not specified [RCV003986380]	Chr2:106755586..134302739 [GRCh37] Chr2:2q12.2-21.2	pathogenic
NM_001083538.3(POTEE):c.2412G>A (p.Leu804=)	single nucleotide variant	not provided [RCV004597634]	Chr2:131263867 [GRCh38] Chr2:132021440 [GRCh37] Chr2:2q21.1	likely benign
GRCh37/hg19 2q21.1-21.2(chr2:131582428-132503336)x1	copy number loss	not provided [RCV004819734]	Chr2:131582428..132503336 [GRCh37] Chr2:2q21.1-21.2	uncertain significance

Predicted Target Of

	Summary Value
Count of predictions:	1082
Count of miRNA genes:	667
Interacting mature miRNAs:	746
Transcripts:	ENST00000356920, ENST00000358087, ENST00000514256
Prediction methods:	Miranda, Rnahybrid
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

PMC109445P1

Human Assembly	Chr	Position (strand)	Source
Cytogenetic Map	2	q21.1	UniSTS
Cytogenetic Map	7	p22	UniSTS
Cytogenetic Map	5	q14.1	UniSTS

PMC109653P1

Human Assembly	Chr	Position (strand)	Source
Cytogenetic Map	2	q21.1	UniSTS
Cytogenetic Map	14	q11.2	UniSTS
Cytogenetic Map	17	q25	UniSTS

PMC23952P1

Human Assembly	Chr	Position (strand)	Source
Cytogenetic Map	2	q21.1	UniSTS
Cytogenetic Map	2	p13.1	UniSTS
Cytogenetic Map	17	q25	UniSTS
Cytogenetic Map	15	q14	UniSTS
Cytogenetic Map	1	q43	UniSTS
Cytogenetic Map	7	p22	UniSTS
Cytogenetic Map	10	q23.3	UniSTS
Cytogenetic Map	1	q42.13	UniSTS
Cytogenetic Map	14	q11.2	UniSTS

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	renal system	reproductive system	respiratory system	sensory system
1197	2263	2769	2138	4314	1372	1794	3	386	1312	231	2031	5899	5670	10	3313	534	1497	1309	161


RefSeq Transcripts	NM_001083538	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011511216	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017004159	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017004161	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047444418	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047444419	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047444420	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047444421	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054342142	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054342143	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054342144	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC131180	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY462868	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY462871	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY462872	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY462873	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY970426	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY970462	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068276	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HM358964	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HM358975	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000356920 ⟹ ENSP00000439189

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	131,218,067 - 131,265,278 (+)	Ensembl

Ensembl Acc Id:

ENST00000358087 ⟹ ENSP00000443049

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	131,218,351 - 131,263,591 (+)	Ensembl

Ensembl Acc Id:

ENST00000514256 ⟹ ENSP00000477649

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	131,218,351 - 131,263,591 (+)	Ensembl

Ensembl Acc Id:

ENST00000613282 ⟹ ENSP00000483137

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	131,218,351 - 131,263,700 (+)	Ensembl

Ensembl Acc Id:

ENST00000626191 ⟹ ENSP00000485683

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	131,218,351 - 131,263,591 (+)	Ensembl

Ensembl Acc Id:

ENST00000683005 ⟹ ENSP00000507284

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	131,209,536 - 131,265,278 (+)	Ensembl

RefSeq Acc Id:

NM_001083538 ⟹ NP_001077007

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	131,209,536 - 131,265,278 (+)	NCBI
GRCh37	2	131,975,924 - 132,022,944 (+)	NCBI
Build 36	2	131,692,394 - 131,738,886 (+)	NCBI Archive
HuRef	2	123,138,792 - 123,141,463 (-)	ENTREZGENE
CHM1_1	2	131,979,957 - 132,025,979 (+)	NCBI
T2T-CHM13v2.0	2	131,643,505 - 131,699,238 (+)	NCBI

Sequence:

show sequence

ATTTCAGGCTCTTAAGTGTGGGCGTTTGGTAACCGGCATGGCTGCTACCTGTTTCTGGCTGGAGCCTCGGACACTGGCTCACTGCAGTTGGTGGTGTCCACAGAGCGGTAGGAGGGCAACTAGTAGCG
GGAGCTTCTCCTGCCAGGCAGGAAGACGAGTAGAAGGGAGCAGCACCGACGCATGCTGGAGGCTGGAGCCTGAGCCCCTGGGGCTCGCCTTGCTGTGTTTGGTGGTGACGTGGGACACTGCAGCTCGG
CCAGAGTGGTAGAAATGTCCTGGTGTAGGCTTTTCTGGCTTTGCCGGTCTAGCTGCTCCAAGCCAGGCTGGAGGAGGAGGAGAAGGAATCACCTGTGGTACGCTGGAGCCTGCATGTGGCGTGACTCT
GCAGCTCGCCTCGTGTGACTGATGGCAGCCACGGAGACTGCAGCTCGACAGGAGTGAGGCTTCTCAGTGGCTTGAAAGCTCAGCTGACTCCCACGAAGTTTGCCGGAACTCAAGGCTGTCAGTGACAT
TCGTGGCGCCAAGACTTAAGCAGATTGGAAACCCGGAGTTACCTGCTAGTTGGTGAAACTGGTTGGTAGACGCGATCTGTTGGCTACTACTGGCTTCTCCTGGCTGTTAAAAGCAGATGGTGGTTGAG
GTTGATTCCATGCCGGCTGCCTCTTCTGTGAAGAAGCCATTTGGTCTCAGGAGCAAGATGGGCAAGTGGTGCTGCCGTTGCTTCCCCTGCTACAGGGAGAGCGGCAAGAGCAACGTGGGCACTTCTGG
AGACCACGACGACTCTGCTATGAAGACACTCAGGAGCAAGATGGGCAAGTGGTGCCACCACTGCTTCCCCTGCTGCAGGGGGAGTGGCAAGAGCAACGTGGGCGCTTCTGGAGACCACGACGACTCTG
CTATGAAGACACTCAGGAACAAGATGGGGAAGTGGTGCTGCCACTGCTTCCCCTGCTGCAGGGGGAGCGGCAAGAGCAAGGTGGGCGCTTGGGGAGACTACGATGACAGCGCCTTCATGGAGCCCAGG
TACCACGTCCGTGGAGAAGATCTGGACAAGCTCCACAGAGCTGCCTGGTGGGGTAAAGTCCCCAGAAAGGATCTCATCGTCATGCTCAGGGACACTGACGTGAACAAGAAGGACAAGCAAAAGAGGAC
TGCTCTACATCTGGCCTCTGCCAATGGGAATTCAGAAGTAGTAAAACTCCTGCTGGACAGACGATGTCAACTTAATGTCCTTGACAACAAAAAGAGGACAGCTCTGATAAAGGCCGTACAATGCCAGG
AAGATGAATGTGCGTTAATGTTGCTGGAACATGGCACTGATCCAAATATTCCAGATGAGTATGGAAATACCACTCTGCACTACGCTATCTATAATGAAGATAAATTAATGGCCAAAGCACTGCTCTTA
TATGGTGCTGATATCGAATCAAAAAACAAGCATGGCCTCACACCACTGTTACTTGGTGTACATGAGCAAAAACAGCAAGTCGTGAAATTTTTAATCAAGAAAAAAGCGAATTTAAATGCACTGGATAG
ATATGGAAGGACTGCTCTCATACTTGCTGTATGTTGTGGATCAGCAAGTATAGTCAGCCTTCTACTTGAGCAAAATATTGATGTATCTTCTCAAGATCTATCTGGACAGACGGCCAGAGAGTATGCTG
TTTCTAGTCATCATCATGTAATTTGCCAGTTACTTTCTGACTACAAAGAAAAACAGATGCTAAAAATCTCTTCTGAAAACAGCAATCCAGAACAAGAGTTAAAGCTGACATCAGAGGAAGAGTCACAA
AGGTTCAAAGGCAGTGAAAATAGCCAGCCAGAGAAAATGTCTCAAGAACTAGAAATAAATAAGGATGGTGATAGAGAGGTTGAAGAAGAAATGAAGAAGCATGAAAGTAATAATGTGGGATTACTAGA
AAACCTGACTAATGGTGTCACTGCTGGCAATGGTGATAATGGATTAATTCCTCAAAGGAAGAGCAGAACACCTGAAAATCAGCAATTTCCTGACAACGAAAGTGAAGAGTATCACAGAATTTGTGAAT
TACTTTCTGACTACAAAGAAAAGCAGATGCCAAAATACTCTTCTGAAAACAGCAACCCAGAACAAGACTTAAAGCTGACATCAGAGGAAGAGTCACAAAGGCTTAAAGGCAGTGAAAATGGCCAGCCA
GAGAAAAGATCTCAAGAACCAGAAATAAATAAGGATGGTGATAGAGAGCTAGAAAATTTTATGGCTATCGAAGAAATGAAGAAGCACGGAAGTACTCATGTCGGATTCCCAGAAAACCTGACTAATGG
TGCCACTGCTGGCAATGGTGATGATGGATTAATTCCTCCAAGGAAGAGCAGAACACCTGAAAGCCAGCAATTTCCTGACACTGAGAATGAAGAGTATCACAGTGACGAACAAAATGATACTCAGAAGC
AATTTTGTGAAGAACAGAACACTGGAATATTACACGATGAGATTCTGATTCATGAAGAAAAGCAGATAGAAGTGGTTGAAAAAATGAATTCTGAGCTTTCTCTTAGTTGTAAGAAAGAAAAAGACGTC
TTGCATGAAAATAGTACGTTGCGGGAAGAAATTGCCATGCTAAGACTGGAGCTAGACACAATGAAACATCAGAGCCAGCTAAGAGAAAAGAAATATTTGGAGGATATTGAAAGTGTGAAAAAAAAGAA
TGATAATCTTTTAAAGGCTCTACAATTGAATGAGCTCACCATGGATGATGATACCGCCGTGCTCGTCATTGACAACGGCTCTGGCATGTGCAAGGCCGGCTTTGCGGGCGACGATGCCCCCCGGGCTG
TCTTCCCTTCCATCGTGGGGCGCCCCAGGCAGCAGGGCATGATGGGGGGCATGCATCAGAAAGAGTCCTATGTGGGCAAGGAGGCCCAGAGCAAGAGAGGCATCCTGACCCTGAAGTACCCCATGGAA
CACGGCATCATCACCAACTGGGATGACATGGAGAAGATCTGGCACCACACCTTCTACAACGAGCTGCGTGTGGCTCCCGAGGAGCACCCCATCCTGCTGACCGAGGCCCCCCTGAACCCCAAGGCCAA
CCGCGAGAAGATGACCCAGATCATGTTTGAGACCTTCAACACCCCAGCCATGTACGTGGCCATCCAGGCCGTGCCGTCCCTGTACACCTCTGGCCGTACTACTGGCATCGTGATGGACTCTGGTGACG
GGGTCACCCACACTGTGCCCATCTATGAGGGGAATGCCCTCCCCCATGCCACCCTGCGCCTAGACCTGGCTGGGCGGGAACTGCCTGACTACCTCATGAAGATCCTCACCGAGCGTGGCTATAGGTTC
ACCACCATGGCCGAGCGGGAAATCGTGCGTGACATCAAAGAGAAGCTGTGCTATGTTGCCCTGGACTTCGAGCAGGAGATGGCCACGGCGGCCTCCAGCTCCTCCCTAGAGAAGAGCTACGAGCTGCC
CGATGGCCAGGTCATCACCATCGGCAACGAGCGGTTCCGCTGCCCCGAGGCGCTCTTCCAGCCTTGCTTCCTGGGCATGGAATCCTGTGGCATCCATGAAACTACCTTCAACTCCATCATGAAGTCTG
ATGTGGACATCCGCAAAGACCTGTACACCAACACAGTGCTGTCTGGCGGCACCACCATGTACCCTGGCATGGCCCACAGAATGCAGAAGGAGATCGCTGCCCTGGCGCCTAGCATGATGAAGATCAGG
ATCATTGCTCCTCCCAAGCGCAAGTACTCCGTGTGGGTCGGTGGCTCCATCCTGGCCTCGCTGTCCACCTTCCAGCAGATGTGGATCAGCAAGCAGGAGTATGATGAGTCAGGCCCCTCCATTGTCCA
CCGCAAATGCTTCTAGGTGGACTCTGACTTAGTTGCGTTACACCCTTTCTTGACAAAACCAAACTTCTCAGAAAACAACATGAGATTGGCATGGCTTTATTTGTTTTCTTGTTTCATTTTTTGTTTTG
TTTTTTATTGGCTTGACTCAGGATTTAAAAACCGGAATGGTGAAGGTGACAGCAGTCGGTTGGAGGAAGCTTCCTCCAAAGTTCTACAATGTTGCCAAGGACTTTGATTGTACATTGTTCTTCTTTTC
AATAGTCATTCCAAATATTGTGAGACGCATTGTTTCAGGAAGCCCCTTGCCCTGCTAAAAGCCATCCCACTTCTCTCTAAGGAGAATGGCCCAGTCCTCTCCCTAGTTCACACAGGGGAGGTGATAGC
ATTGCTTTTGTGCAAATTACATAATGCAAAATTTTTTGAATCTTCGCCTTAATACTTTTTAATTTTGTTTTATTTTGAATGATCAGCCTTCGTGGCCCCCCTCTTTTGTACCCCAACTTGGGGTGTAT
GAAGGCTTTTGGTCTCCCTGAGAGTGGCTGGAGGCAGCCAGGGCTTACCTGTACTCTGACTTGAGGAGAGTTGGATAAAAGTGCACACCTTAAAAAAAA

hide sequence

RefSeq Acc Id:

XM_047444418 ⟹ XP_047300374

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	131,209,536 - 131,265,254 (+)	NCBI

RefSeq Acc Id:

XM_047444419 ⟹ XP_047300375

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	131,230,888 - 131,265,254 (+)	NCBI

RefSeq Acc Id:

XM_047444420 ⟹ XP_047300376

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	131,230,888 - 131,265,254 (+)	NCBI

RefSeq Acc Id:

XM_047444421 ⟹ XP_047300377

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	131,209,554 - 131,265,254 (+)	NCBI

RefSeq Acc Id:

XM_054342142 ⟹ XP_054198117

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	2	131,664,867 - 131,702,729 (+)	NCBI

RefSeq Acc Id:

XM_054342143 ⟹ XP_054198118

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	2	131,664,868 - 131,702,729 (+)	NCBI

RefSeq Acc Id:

XM_054342144 ⟹ XP_054198119

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	2	131,643,523 - 131,702,729 (+)	NCBI


Protein RefSeqs	NP_001077007	(Get FASTA)	NCBI Sequence Viewer
	XP_047300374	(Get FASTA)	NCBI Sequence Viewer
	XP_047300375	(Get FASTA)	NCBI Sequence Viewer
	XP_047300376	(Get FASTA)	NCBI Sequence Viewer
	XP_047300377	(Get FASTA)	NCBI Sequence Viewer
	XP_054198117	(Get FASTA)	NCBI Sequence Viewer
	XP_054198118	(Get FASTA)	NCBI Sequence Viewer
	XP_054198119	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAS58862	(Get FASTA)	NCBI Sequence Viewer
	AAS58865	(Get FASTA)	NCBI Sequence Viewer
	AAS58866	(Get FASTA)	NCBI Sequence Viewer
	AAS58867	(Get FASTA)	NCBI Sequence Viewer
	AAX82235	(Get FASTA)	NCBI Sequence Viewer
	AAX82269	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000439189
	ENSP00000439189.1
	ENSP00000443049.1
	ENSP00000477649.1
	ENSP00000485683.1
	ENSP00000507284
	ENSP00000507284.1
GenBank Protein	Q6S8J3	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_001077007 ⟸ NM_001083538

- UniProtKB:

Q6S8J5 (UniProtKB/Swiss-Prot), Q6S8J4 (UniProtKB/Swiss-Prot), Q6S8J8 (UniProtKB/Swiss-Prot), Q6S8J3 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MVVEVDSMPAASSVKKPFGLRSKMGKWCCRCFPCYRESGKSNVGTSGDHDDSAMKTLRSKMGKWCHHCFPCCRGSGKSNVGASGDHDDSAMKTLRNKMGKWCCHCFPCCRGSGKSKVGAWGDYDDSAF
MEPRYHVRGEDLDKLHRAAWWGKVPRKDLIVMLRDTDVNKKDKQKRTALHLASANGNSEVVKLLLDRRCQLNVLDNKKRTALIKAVQCQEDECALMLLEHGTDPNIPDEYGNTTLHYAIYNEDKLMAK
ALLLYGADIESKNKHGLTPLLLGVHEQKQQVVKFLIKKKANLNALDRYGRTALILAVCCGSASIVSLLLEQNIDVSSQDLSGQTAREYAVSSHHHVICQLLSDYKEKQMLKISSENSNPEQELKLTSE
EESQRFKGSENSQPEKMSQELEINKDGDREVEEEMKKHESNNVGLLENLTNGVTAGNGDNGLIPQRKSRTPENQQFPDNESEEYHRICELLSDYKEKQMPKYSSENSNPEQDLKLTSEEESQRLKGSE
NGQPEKRSQEPEINKDGDRELENFMAIEEMKKHGSTHVGFPENLTNGATAGNGDDGLIPPRKSRTPESQQFPDTENEEYHSDEQNDTQKQFCEEQNTGILHDEILIHEEKQIEVVEKMNSELSLSCKK
EKDVLHENSTLREEIAMLRLELDTMKHQSQLREKKYLEDIESVKKKNDNLLKALQLNELTMDDDTAVLVIDNGSGMCKAGFAGDDAPRAVFPSIVGRPRQQGMMGGMHQKESYVGKEAQSKRGILTLK
YPMEHGIITNWDDMEKIWHHTFYNELRVAPEEHPILLTEAPLNPKANREKMTQIMFETFNTPAMYVAIQAVPSLYTSGRTTGIVMDSGDGVTHTVPIYEGNALPHATLRLDLAGRELPDYLMKILTER
GYRFTTMAEREIVRDIKEKLCYVALDFEQEMATAASSSSLEKSYELPDGQVITIGNERFRCPEALFQPCFLGMESCGIHETTFNSIMKSDVDIRKDLYTNTVLSGGTTMYPGMAHRMQKEIAALAPSM
MKIRIIAPPKRKYSVWVGGSILASLSTFQQMWISKQEYDESGPSIVHRKCF

hide sequence

Ensembl Acc Id:

ENSP00000485683 ⟸ ENST00000626191

Ensembl Acc Id:

ENSP00000483137 ⟸ ENST00000613282

Ensembl Acc Id:

ENSP00000439189 ⟸ ENST00000356920

Ensembl Acc Id:

ENSP00000477649 ⟸ ENST00000514256

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q6S8J3-F1-model_v2	AlphaFold	Q6S8J3	1-1075	view protein structure

RGD ID:

6861578

Promoter ID:

EPDNEW_H3954

Type:

initiation region

Name:

POTEE_2

Description:

POTE ankyrin domain family member E

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H3948 EPDNEW_H3955 EPDNEW_H3956 EPDNEW_H3958 EPDNEW_H3959 EPDNEW_H3957

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	131,209,536 - 131,209,596	EPDNEW

RGD ID:

6861580

Promoter ID:

EPDNEW_H3955

Type:

initiation region

Name:

POTEE_7

Description:

POTE ankyrin domain family member E

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H3948 EPDNEW_H3954 EPDNEW_H3956 EPDNEW_H3958 EPDNEW_H3959 EPDNEW_H3957

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	131,217,741 - 131,217,801	EPDNEW

RGD ID:

6861582

Promoter ID:

EPDNEW_H3956

Type:

initiation region

Name:

POTEE_6

Description:

POTE ankyrin domain family member E

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H3948 EPDNEW_H3954 EPDNEW_H3955 EPDNEW_H3958 EPDNEW_H3959 EPDNEW_H3957

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	131,223,713 - 131,223,773	EPDNEW

RGD ID:

6861622

Promoter ID:

EPDNEW_H3957

Type:

initiation region

Name:

POTEE_1

Description:

POTE ankyrin domain family member E

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H3948 EPDNEW_H3954 EPDNEW_H3955 EPDNEW_H3956 EPDNEW_H3958 EPDNEW_H3959

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	131,263,624 - 131,263,684	EPDNEW

RGD ID:

6861586

Promoter ID:

EPDNEW_H3958

Type:

multiple initiation site

Name:

POTEE_4

Description:

POTE ankyrin domain family member E

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H3948 EPDNEW_H3954 EPDNEW_H3955 EPDNEW_H3956 EPDNEW_H3959 EPDNEW_H3957

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	131,264,267 - 131,264,327	EPDNEW

RGD ID:

6861588

Promoter ID:

EPDNEW_H3959

Type:

initiation region

Name:

POTEE_3

Description:

POTE ankyrin domain family member E

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H3948 EPDNEW_H3954 EPDNEW_H3955 EPDNEW_H3956 EPDNEW_H3958 EPDNEW_H3957

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	131,264,747 - 131,264,807	EPDNEW

Database	Acc Id	Source(s)
COSMIC	POTEE	COSMIC
Ensembl Genes	ENSG00000188219	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000356920	ENTREZGENE
	ENST00000356920.9	UniProtKB/Swiss-Prot
	ENST00000358087.9	UniProtKB/Swiss-Prot
	ENST00000514256.5	UniProtKB/Swiss-Prot
	ENST00000626191.1	UniProtKB/Swiss-Prot
	ENST00000683005	ENTREZGENE
	ENST00000683005.1	UniProtKB/Swiss-Prot
Gene3D-CATH	1.25.40.20	UniProtKB/Swiss-Prot
	3.30.420.40	UniProtKB/Swiss-Prot
	Actin, Chain A, domain 4	UniProtKB/Swiss-Prot
GTEx	ENSG00000188219	GTEx
HGNC ID	HGNC:33895	ENTREZGENE
Human Proteome Map	POTEE	Human Proteome Map
InterPro	Actin	UniProtKB/Swiss-Prot
	Actin/actin-like_CS	UniProtKB/Swiss-Prot
	Actin_CS	UniProtKB/Swiss-Prot
	Ankyrin_rpt	UniProtKB/Swiss-Prot
	Ankyrin_rpt-contain_sf	UniProtKB/Swiss-Prot
	ATPase_NBD	UniProtKB/Swiss-Prot
	CC144C-like_CC_dom	UniProtKB/Swiss-Prot
KEGG Report	hsa:445582	UniProtKB/Swiss-Prot
NCBI Gene	445582	ENTREZGENE
OMIM	608914	OMIM
PANTHER	ACTIN	UniProtKB/Swiss-Prot
Pfam	Actin	UniProtKB/Swiss-Prot
	Ank_2	UniProtKB/Swiss-Prot
	CCDC144C	UniProtKB/Swiss-Prot
PharmGKB	PA164724783	PharmGKB
PRINTS	ACTIN	UniProtKB/Swiss-Prot
PROSITE	ACTINS_2	UniProtKB/Swiss-Prot
	ACTINS_ACT_LIKE	UniProtKB/Swiss-Prot
	ANK_REP_REGION	UniProtKB/Swiss-Prot
	ANK_REPEAT	UniProtKB/Swiss-Prot
SMART	ACTIN	UniProtKB/Swiss-Prot
	ANK	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF48403	UniProtKB/Swiss-Prot
	SSF53067	UniProtKB/Swiss-Prot
UniProt	POTEE_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
	Q6S8J4	ENTREZGENE
	Q6S8J5	ENTREZGENE
	Q6S8J8	ENTREZGENE
UniProt Secondary	Q6S8J4	UniProtKB/Swiss-Prot
	Q6S8J5	UniProtKB/Swiss-Prot
	Q6S8J8	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2015-11-24	POTEE	POTE ankyrin domain family member E		POTE ankyrin domain family, member E	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailable


InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailable


Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
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MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable

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