PROM2 Gene (Protein Coding)

Prominin 2

GC02P095274
GIFtS:
36
This gene encodes a member of the prominin family of pentaspan membrane glycoproteins. The encoded protein localizes to basal epithelial cells and may be involved in the organization of plasma membrane microdomains. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] See more...

Aliases for PROM2 Gene

Aliases for PROM2 Gene

  • Prominin 2 2 3 5
  • Prominin-Like Protein 2 3 4
  • Prominin-2 3 4
  • PROML2 3 4
  • Prominin-Related Protein 3
  • HPROML2 4
  • PROM-2 4
  • PROM2 5

External Ids for PROM2 Gene

Previous GeneCards Identifiers for PROM2 Gene

  • GC02P094373
  • GC02P095408
  • GC02P095424
  • GC02P095362
  • GC02P095303
  • GC02P095942
  • GC02P089982

Summaries for PROM2 Gene

Entrez Gene Summary for PROM2 Gene

  • This gene encodes a member of the prominin family of pentaspan membrane glycoproteins. The encoded protein localizes to basal epithelial cells and may be involved in the organization of plasma membrane microdomains. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

GeneCards Summary for PROM2 Gene

PROM2 (Prominin 2) is a Protein Coding gene. Diseases associated with PROM2 include Cone-Rod Dystrophy 15 and Jaw Cancer. Gene Ontology (GO) annotations related to this gene include cholesterol binding. An important paralog of this gene is PROM1.

Additional gene information for PROM2 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PROM2 Gene

Genomics for PROM2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for PROM2 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH02J095273 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE dbSUPER 250.7 +0.5 549 2.6 ZNF217 MBD2 CTBP1 CTCF SMARCE1 MAZ POLR2A DPF2 ZFX TARDBP HSALNG0016945 PROM2 ZNF514 HSALNG0016946 KCNIP3
GH02J095300 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 12.9 +29.1 29052 7 CEBPA FOXA2 RXRA TEAD3 JUND HMG20A HNF4A REST RCOR1 CEBPG KCNIP3 ZNF514 PROM2 GPAT2P1 GPAT2 HSALNG0016949 FAHD2A
GH02J095345 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 7.4 +71.9 71871 2.6 CTCF BHLHE40 NONO ZIC2 REST MAX VEZF1 KLF7 ZNF341 GABPB1 KCNIP3 PROM2 HSALNG0016950 lnc-TRIM43B-11 FAHD2A
GH02J095231 Enhancer 1 Ensembl ENCODE 12 -42.6 -42575 0.7 CEBPA CTCF THAP11 REST TRIM22 SMAD4 SAP130 SMC3 RAD21 RARA NONHSAG028567.2-002 NONHSAG028567.2-003 KCNIP3 PROM2 ZNF514 NONHSAG028567.2-001 ENSG00000233757
GH02J095164 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 5.3 -108.9 -108948 3 CHD2 TBP ZBTB10 MXD4 FEZF1 CEBPA SIX5 NR2C1 MNT IKZF1 ZNF514 ZNF2 lnc-ZNF514-1 PROM2 lnc-ZNF514-2 ENSG00000233757
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PROM2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PROM2

Top Transcription factor binding sites by QIAGEN in the PROM2 gene promoter:
  • c-Myc
  • CP2
  • GATA-6
  • Max
  • MyoD
  • NF-1
  • NF-1/L
  • p53

Genomic Locations for PROM2 Gene

Latest Assembly
chr2:95,274,449-95,291,320
(GRCh38/hg38)
Size:
16,872 bases
Orientation:
Plus strand

Previous Assembly
chr2:95,940,197-95,957,050
(GRCh37/hg19 by Entrez Gene)
Size:
16,854 bases
Orientation:
Plus strand

chr2:95,940,201-95,957,056
(GRCh37/hg19 by Ensembl)
Size:
16,856 bases
Orientation:
Plus strand

Genomic View for PROM2 Gene

Genes around PROM2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PROM2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PROM2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for PROM2 Gene

Proteins for PROM2 Gene

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  • Protein details for PROM2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N271-PROM2_HUMAN
    Recommended name:
    Prominin-2
    Protein Accession:
    Q8N271
    Secondary Accessions:
    • A8K2V1
    • Q2HIX6
    • Q8NB84
    • Q8TAE2

    Protein attributes for PROM2 Gene

    Size:
    834 amino acids
    Molecular mass:
    91883 Da
    Quaternary structure:
    • Binds cholesterol.
    SequenceCaution:
    • Sequence=BAC03657.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for PROM2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PROM2 Gene

Protein Expression for PROM2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for PROM2 Gene

  • Glycosylated.
  • Glycosylation at Asn707, Asn725, and Asn270
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • PROM2_HUMAN (1643)

Other Protein References for PROM2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PROM2 Gene

Domains & Families for PROM2 Gene

Gene Families for PROM2 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for PROM2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PROM2 Gene

GenScript: Design optimal peptide antigens:
  • Prominin-like protein 2 (PROM2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8N271

UniProtKB/Swiss-Prot:

PROM2_HUMAN :
  • Belongs to the prominin family.
Family:
  • Belongs to the prominin family.
genes like me logo Genes that share domains with PROM2: view

Function for PROM2 Gene

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  1. Animal Models for research
  2. CRISPR products for research
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  4. Inhibitory RNAs for research
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  6. Cell Lines for research

Phenotypes From GWAS Catalog for PROM2 Gene

Gene Ontology (GO) - Molecular Function for PROM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 32296183
GO:0015485 cholesterol binding IBA,ISS 12514187
genes like me logo Genes that share ontologies with PROM2: view
genes like me logo Genes that share phenotypes with PROM2: view

Animal Models for PROM2 Gene

MGI Knock Outs for PROM2:
  • Prom2 Prom2<tm1.1(KOMP)Vlcg>
  • Prom2 Prom2<tm1Lex>

Animal Models for research

  • Taconic Biosciences Mouse Models for PROM2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PROM2

Clone products for research

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PROM2 Gene

Localization for PROM2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PROM2 Gene

Apical cell membrane. Multi-pass membrane protein. Basolateral cell membrane. Multi-pass membrane protein. Cell projection, microvillus membrane. Multi-pass membrane protein. Cell projection, cilium membrane. Multi-pass membrane protein. Note=Colocalizes with PROM1. Associates with membrane in a cholesterol-dependent manner. Localizes to the apical and basolateral membranes of epithelial cells (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PROM2 gene
Compartment Confidence
plasma membrane 5
extracellular 4
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
endosome 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (2)
  • Nucleoplasm (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PROM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0005887 integral component of plasma membrane IBA,ISS 12514187
GO:0005902 microvillus IBA,ISS 12514187
GO:0005929 cilium IBA,ISS 12514187
GO:0009986 cell surface IEA,ISS 12514187
genes like me logo Genes that share ontologies with PROM2: view

Pathways & Interactions for PROM2 Gene

PathCards logo

SuperPathways for PROM2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PROM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001934 positive regulation of protein phosphorylation IDA 23583380
GO:0031346 positive regulation of cell projection organization IDA 23583380
GO:0043087 regulation of GTPase activity IDA 23583380
GO:0048550 negative regulation of pinocytosis IDA 23583380
GO:2000369 NOT regulation of clathrin-dependent endocytosis IDA 23583380
genes like me logo Genes that share ontologies with PROM2: view

No data available for Pathways by source and SIGNOR curated interactions for PROM2 Gene

Drugs & Compounds for PROM2 Gene

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  1. Drug products for research
No Compound Related Data Available

Transcripts for PROM2 Gene

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  3. Inhibitory RNAs for research
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mRNA/cDNA for PROM2 Gene

4 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PROM2

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for PROM2 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b · 11c ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^
SP1: - -
SP2: - -
SP3: - -
SP4: -
SP5: - - - - -
SP6: - - -
SP7:
SP8:

ExUns: 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27
SP1: - -
SP2: - - -
SP3:
SP4: -
SP5:
SP6:
SP7:
SP8:

Relevant External Links for PROM2 Gene

GeneLoc Exon Structure for
PROM2

Expression for PROM2 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PROM2 Gene

mRNA expression in normal human tissues for PROM2 Gene
mRNA expression by GTEx for PROM2 GenemRNA expression by BioGPS for PROM2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PROM2 Gene

This gene is overexpressed in Esophagus - Mucosa (x9.6), Skin - Not Sun Exposed (Suprapubic) (x5.1), Skin - Sun Exposed (Lower leg) (x4.8), and Bladder (x4.6).

Protein differential expression in normal tissues from HIPED for PROM2 Gene

This gene is overexpressed in Urine (48.9) and Milk (9.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PROM2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PROM2

SOURCE GeneReport for Unigene cluster for PROM2 Gene:

Hs.469313

mRNA Expression by UniProt/SwissProt for PROM2 Gene:

Q8N271-PROM2_HUMAN
Tissue specificity: Present in saliva within small membrane particles (at protein level). Expressed in kidney, prostate, trachea, esophagus, salivary gland, thyroid gland, mammary gland adrenal gland, placenta, stomach, spinal cord and liver. In submucosal tumor, expressed in spindle-shaped or stellate stromal cells. Expressed in prostate cancer cell lines.

Evidence on tissue expression from TISSUES for PROM2 Gene

  • Kidney(4.4)
  • Nervous system(4.3)
  • Skin(2.4)
genes like me logo Genes that share expression patterns with PROM2: view

Primer products for research

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for PROM2 Gene

Orthologs for PROM2 Gene

This gene was present in the common ancestor of animals.

Orthologs for PROM2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia PROM2 30 31
  • 99.08 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 31
  • 86 (a)
 OneToMany
-- 31
  • 44 (a)
 OneToMany
-- 31
  • 28 (a)
 OneToMany
Dog
(Canis familiaris)
 Mammalia PROM2 30 31
  • 84.39 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia PROM2 30 31
  • 83.05 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Prom2 30 17 31
  • 79.55 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Prom2 30
  • 76.64 (n)
Oppossum
(Monodelphis domestica)
 Mammalia PROM2 31
  • 62 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves PROM2 30 31
  • 59.4 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia PROM2 31
  • 47 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia prom2 30
  • 47.88 (n)
Zebrafish
(Danio rerio)
 Actinopterygii prom2 31
  • 26 (a)
 OneToOne
Fruit Fly
(Drosophila melanogaster)
 Insecta prom 31
  • 11 (a)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea prmn-1 31
  • 16 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 20 (a)
 OneToMany
Species where no ortholog for PROM2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for PROM2 Gene

ENSEMBL:
Gene Tree for PROM2 (if available)
TreeFam:
Gene Tree for PROM2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PROM2: view image

Paralogs for PROM2 Gene

Paralogs for PROM2 Gene

(1) SIMAP similar genes for PROM2 Gene using alignment to 2 proteins:

  • PROM2_HUMAN
  • F8WDW5_HUMAN
genes like me logo Genes that share paralogs with PROM2: view

Variants for PROM2 Gene

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  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PROM2 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
rs73625087 Benign: not provided 95,277,422(+) G/A
NM_001165978.3(PROM2):c.831G>A (p.Gln277=) 		SYNONYMOUS_VARIANT,FIVE_PRIME_UTR
rs12992066 - p.Gln508Arg

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PROM2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for PROM2 Gene

Variant ID Type Subtype PubMed ID
esv3591652 OTHER inversion 21293372
nsv1160825 CNV duplication 26073780
nsv528011 CNV loss 19592680
nsv953478 CNV deletion 24416366
nsv998014 CNV gain 25217958

Variation tolerance for PROM2 Gene

Residual Variation Intolerance Score: 75.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.32; 76.69% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PROM2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PROM2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PROM2 Gene

Disorders for PROM2 Gene

MalaCards: The human disease database

(6) MalaCards diseases for PROM2 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
cone-rod dystrophy 15
  • cord15
jaw cancer
  • jaw neoplasm
maxillary cancer
  • maxillary neoplasm
chromophobe renal cell carcinoma
  • chromophobe adenocarcinoma
frontometaphyseal dysplasia 1
  • fmd1
- elite association - COSMIC cancer census association via MalaCards
Search PROM2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PROM2

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with PROM2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PROM2 Gene

Publications for PROM2 Gene

  1. Characterization of prominin-2, a new member of the prominin family of pentaspan membrane glycoproteins. (PMID: 12514187) Fargeas CA … Corbeil D (The Journal of biological chemistry 2003) 2 3 4 23
  2. Prominin-2 is a novel marker of distal tubules and collecting ducts of the human and murine kidney. (PMID: 20333396) Jászai J … Corbeil D (Histochemistry and cell biology 2010) 3 23
  3. Effect of CD133/prominin-1 antisense oligodeoxynucleotide on in vitro growth characteristics of Huh-7 human hepatocarcinoma cells and U251 human glioma cells. (PMID: 19724856) Yao J … Wu G (Oncology reports 2009) 3 23
  4. Robust expression of Prominin-2 all along the adult male reproductive system and urinary bladder. (PMID: 18536929) Jászai J … Corbeil D (Histochemistry and cell biology 2008) 3 23
  5. Differential expression of Prominin-1 (CD133) and Prominin-2 in major cephalic exocrine glands of adult mice. (PMID: 17874118) Jászai J … Corbeil D (Histochemistry and cell biology 2007) 4 23

ExternalLinks

View latest publications for PROM2 gene in Mastermind

Products for PROM2 Gene

Sources for PROM2 Gene