POTEE POTE ankyrin domain family member E [Homo sapiens (human)] - Gene

Summary

Official Symbol: POTEEprovided by HGNC
Official Full Name: POTE ankyrin domain family member Eprovided by HGNC
Primary source: HGNC:HGNC:33895
See related: Ensembl:ENSG00000188219 MIM:608914; AllianceGenome:HGNC:33895
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: A26C1; POTE2; A26C1A; POTE-2; CT104.2; POTE2gamma
Summary: Involved in retina homeostasis and substantia nigra development. Located in blood microparticle and extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in appendix (RPKM 3.7), lymph node (RPKM 3.5) and 24 other tissues See more
Orthologs: all
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Genomic context

Location:: 2q21.1

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (131209536..131265278)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (131643505..131702729)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (131967109..132022851)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

POTEE stimulates the proliferation of pancreatic cancer by activating the PI3K/Akt/GSK-3beta/beta-catenin signaling.
Title: POTEE stimulates the proliferation of pancreatic cancer by activating the PI3K/Akt/GSK-3β/β-catenin signaling.
POTEE promotes colorectal carcinoma progression via activating the Rac1/Cdc42 pathway.
Title: POTEE promotes colorectal carcinoma progression via activating the Rac1/Cdc42 pathway.
POTEE drives colorectal cancer development via regulating SPHK1/p65 signaling.
Title: POTEE drives colorectal cancer development via regulating SPHK1/p65 signaling.
In TAMs, POTEE was involved differential protein-protein interaction with mTOR, RICTOR, and Rad51 indicating its biological role in cell invasion through mTORC2 activation.
Title: Identification of MΦ specific POTEE expression: Its role in mTORC2 activation via protein-protein interaction in TAMs.
POTEE interaction with HIV-1 Nef regulates mTORC2 activation in macrophages.
Title: HIV-1 Nef-POTEE; A novel interaction modulates macrophage dissemination via mTORC2 signaling pathway.
Data show that HPX, POTEE and ApoA1 are deregulated in breast tumors suggesting un important role in breast tumorigenesis.
Title: Identification of ApoA1, HPX and POTEE genes by omic analysis in breast cancer.
POTE gene family encodes a new family of proapoptotic proteins.
Title: A primate-specific POTE-actin fusion protein plays a role in apoptosis.
The POTE paralogs that are expressed in ES cells may have a specific function during lineage-specific differentiation of ES cells.
Title: Selective POTE paralogs on chromosome 2 are expressed in human embryonic stem cells.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC99880P2 (e-PCR)
- UniSTS:273691

PMC85361P1 (e-PCR)
- UniSTS:273471

PMC350549P3 (e-PCR)
- UniSTS:273239

PMC23952P1 (e-PCR)
- UniSTS:272216

PMC109445P1 (e-PCR)
- UniSTS:270169

PMC109653P1 (e-PCR)
- UniSTS:270174

fb23d02.x1 (e-PCR)
- UniSTS:190320

PMC356969P12 (e-PCR)
- UniSTS:273274

PMC152551P1 (e-PCR)
- UniSTS:271229

LOC345651 (e-PCR)
- UniSTS:265879

PMC37512P3 (e-PCR)
- UniSTS:273307

PMC305683P4 (e-PCR)
- UniSTS:272560

PMC115141P1 (e-PCR)
- UniSTS:270285

PMC97568P1 (e-PCR)
- UniSTS:273653

PMC22644P1 (e-PCR)
- UniSTS:272120

PMC275467P1 (e-PCR)
- UniSTS:272382

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info
enables protein kinase binding	IBA Inferred from Biological aspect of Ancestor more info
enables structural constituent of postsynaptic actin cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in axonogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell motility	IBA Inferred from Biological aspect of Ancestor more info
involved_in postsynaptic actin cytoskeleton organization	IEA Inferred from Electronic Annotation more info
involved_in substantia nigra development	HEP more info	PubMed

Component	Evidence Code	Pubs
part_of NuA4 histone acetyltransferase complex	IBA Inferred from Biological aspect of Ancestor more info
is_active_in actin cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
is_active_in actin filament	IBA Inferred from Biological aspect of Ancestor more info
is_active_in axon	IBA Inferred from Biological aspect of Ancestor more info
located_in blood microparticle	HDA more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular space	HDA more info	PubMed
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in synapse	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: POTE ankyrin domain family member E

Names: ANKRD26-like family C member 1A; cancer/testis antigen family 104, member 2; prostate, ovary, testis-expressed protein on chromosome 2; protein expressed in prostate, ovary, testis, and placenta 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001083538.3 → NP_001077007.1 POTE ankyrin domain family member E

See identical proteins and their annotated locations for NP_001077007.1

Status: VALIDATED

Source sequence(s)

AC131180

Consensus CDS

CCDS46414.1

UniProtKB/Swiss-Prot

Q6S8J3, Q6S8J4, Q6S8J5, Q6S8J8

Related

ENSP00000507284.1, ENST00000683005.1

Conserved Domains (6) summary

smart00268
Location:705 → 1075

ACTIN; Actin

cd00204
Location:167 → 292

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

pfam12796
Location:177 → 269

Ank_2; Ankyrin repeats (3 copies)

pfam13637
Location:143 → 193

Ank_4; Ankyrin repeats (many copies)

sd00045
Location:238 → 269

ANK; ANK repeat [structural motif]

cl17037
Location:701 → 1075

NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

131209536..131265278

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047444418.1 → XP_047300374.1 POTE ankyrin domain family member E isoform X1
XM_047444421.1 → XP_047300377.1 POTE ankyrin domain family member E isoform X4

UniProtKB/Swiss-Prot

Q6S8J3, Q6S8J4, Q6S8J5, Q6S8J8

Related

ENSP00000439189.1, ENST00000356920.9
XM_047444419.1 → XP_047300375.1 POTE ankyrin domain family member E isoform X2
XM_047444420.1 → XP_047300376.1 POTE ankyrin domain family member E isoform X3

Alternate T2T-CHM13v2.0

Genomic

NC_060926.1 Alternate T2T-CHM13v2.0

Range

131643505..131702729

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054342144.1 → XP_054198119.1 POTE ankyrin domain family member E isoform X4
XM_054342142.1 → XP_054198117.1 POTE ankyrin domain family member E isoform X2
XM_054342143.1 → XP_054198118.1 POTE ankyrin domain family member E isoform X3

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001004054.2: Suppressed sequence

Description

NM_001004054.2: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
NM_001005359.1: Suppressed sequence

Description

NM_001005359.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
NM_001005364.1: Suppressed sequence

Description

NM_001005364.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.