Human Gene PHB2 (uc021qug.1)
  Description: Homo sapiens prohibitin 2 (PHB2), transcript variant 1, mRNA.
Transcript (Including UTRs)
   Position: hg19 chr12:7,074,515-7,079,916 Size: 5,402 Total Exon Count: 10 Strand: -
Coding Region
   Position: hg19 chr12:7,074,848-7,079,706 Size: 4,859 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:7,074,515-7,079,916)mRNA (may differ from genome)Protein (299 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
H-INVHGNCHPRDLynxMalacardsMGI
neXtProtOMIMPubMedReactomeUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PHB2_HUMAN
DESCRIPTION: RecName: Full=Prohibitin-2; AltName: Full=B-cell receptor-associated protein BAP37; AltName: Full=D-prohibitin; AltName: Full=Repressor of estrogen receptor activity;
FUNCTION: Acts as a mediator of transcriptional repression by nuclear hormone receptors via recruitment of histone deacetylases (By similarity). Functions as an estrogen receptor (ER)-selective coregulator that potentiates the inhibitory activities of antiestrogens and represses the activity of estrogens. Competes with NCOA1 for modulation of ER transcriptional activity. Probably involved in regulating mitochondrial respiration activity and in aging.
SUBUNIT: Interacts with PHB, ESR1, HDAC1 and HDAC5 (By similarity). Interacts with ZNF703.
INTERACTION: P03372:ESR1; NbExp=4; IntAct=EBI-358348, EBI-78473;
SUBCELLULAR LOCATION: Mitochondrion inner membrane (By similarity). Cytoplasm (By similarity). Nucleus (By similarity). Note=Also cytoplasmic and nuclear (By similarity).
DEVELOPMENTAL STAGE: Levels of expression in fibroblasts decrease heterogeneously during cellular aging.
INDUCTION: Expression increases approximately 3-fold upon entry into G1 phase compared to other phases of the cell cycle. Also induced following inhibition of mitochondrial protein synthesis by thiamphenicol.
SIMILARITY: Belongs to the prohibitin family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): PHB2
CDC HuGE Published Literature: PHB2

-  MalaCards Disease Associations
  MalaCards Gene Search: PHB2
Diseases sorted by gene-association score: urethritis (8), loiasis (8), enthesopathy (7), urethral syndrome (7), balanitis (6), bursitis (6), transient arthritis (6), penile disease (5), iritis (5), bone ewing's sarcoma (5), drug-induced mental disorder (5), drug psychosis (5), tendinitis (5), dysentery (4), 3-methylglutaconic aciduria, type v (4), bone inflammation disease (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 202.39 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 4452.02 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -99.39210-0.473 Picture PostScript Text
3' UTR -105.06333-0.315 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001107 - Band_7
IPR000163 - Prohibitin

Pfam Domains:
PF01145 - SPFH domain / Band 7 family

ModBase Predicted Comparative 3D Structure on Q99623
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserGenome BrowserGenome BrowserGenome Browser
 Gene Details Gene DetailsGene DetailsGene Details
 Gene Sorter Gene SorterGene SorterGene Sorter
 RGDEnsemblFlyBaseWormBaseSGD
 Protein SequenceProtein SequenceProtein SequenceProtein SequenceProtein Sequence
 AlignmentAlignmentAlignmentAlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0008022 protein C-terminus binding
GO:0030331 estrogen receptor binding
GO:0033218 amide binding
GO:0047485 protein N-terminus binding

Biological Process:
GO:0000060 protein import into nucleus, translocation
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006851 mitochondrial calcium ion transport
GO:0007005 mitochondrion organization
GO:0007062 sister chromatid cohesion
GO:0009611 response to wounding
GO:0031536 positive regulation of exit from mitosis
GO:0033147 negative regulation of intracellular estrogen receptor signaling pathway
GO:0033600 negative regulation of mammary gland epithelial cell proliferation
GO:0043066 negative regulation of apoptotic process
GO:0043433 negative regulation of sequence-specific DNA binding transcription factor activity
GO:0045892 negative regulation of transcription, DNA-templated
GO:0050821 protein stabilization
GO:0051091 positive regulation of sequence-specific DNA binding transcription factor activity
GO:0060744 mammary gland branching involved in thelarche
GO:0060749 mammary gland alveolus development
GO:0060762 regulation of branching involved in mammary gland duct morphogenesis
GO:0070374 positive regulation of ERK1 and ERK2 cascade
GO:0071277 cellular response to calcium ion
GO:0071300 cellular response to retinoic acid
GO:0071456 cellular response to hypoxia
GO:1902808 positive regulation of cell cycle G1/S phase transition
GO:0030449 regulation of complement activation

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005741 mitochondrial outer membrane
GO:0005743 mitochondrial inner membrane
GO:0009986 cell surface
GO:0016020 membrane
GO:0016363 nuclear matrix
GO:0030424 axon
GO:0032991 macromolecular complex
GO:0071944 cell periphery


-  Descriptions from all associated GenBank mRNAs
  BC014766 - Homo sapiens prohibitin 2, mRNA (cDNA clone MGC:17479 IMAGE:3452360), complete cds.
AF150962 - Homo sapiens repressor of estrogen receptor activity (REA) mRNA, complete cds.
BC110322 - Homo sapiens prohibitin 2, mRNA (cDNA clone MGC:117268 IMAGE:5540527), complete cds.
U72511 - Human B-cell receptor associated protein (hBAP) mRNA, partial cds.
AK301316 - Homo sapiens cDNA FLJ60175 complete cds, highly similar to Prohibitin-2.
AF126021 - Homo sapiens B-cell receptor-associated protein BAP37 mRNA, complete cds.
BC013228 - Homo sapiens prohibitin 2, mRNA (cDNA clone IMAGE:3458091).
AF178980 - Homo sapiens D-prohibitin mRNA, complete cds.
AK298217 - Homo sapiens cDNA FLJ56579 complete cds, highly similar to Prohibitin-2.
KJ893282 - Synthetic construct Homo sapiens clone ccsbBroadEn_02676 PHB2 gene, encodes complete protein.
DQ891808 - Synthetic construct clone IMAGE:100004438; FLH180136.01X; RZPDo839G04132D prohibitin 2 (PHB2) gene, encodes complete protein.
EU176626 - Synthetic construct Homo sapiens clone IMAGE:100011434; FLH180135.01L; RZPDo839E07254D prohibitin 2 (PHB2) gene, encodes complete protein.
AB528395 - Synthetic construct DNA, clone: pF1KB0904, Homo sapiens PHB2 gene for prohibitin 2, without stop codon, in Flexi system.
MG816139 - Homo sapiens prohibitin-2 variant (PHB2) mRNA, complete cds, alternatively spliced.
U72512 - Human B-cell receptor associated protein (hBAP) alternatively spliced mRNA, partial 3'UTR.
AF279895 - Homo sapiens PNAS-141 mRNA, partial cds.
JD081451 - Sequence 62475 from Patent EP1572962.
JD550578 - Sequence 531602 from Patent EP1572962.
JD487552 - Sequence 468576 from Patent EP1572962.
JD532893 - Sequence 513917 from Patent EP1572962.
JD065485 - Sequence 46509 from Patent EP1572962.
JD142442 - Sequence 123466 from Patent EP1572962.
JD375780 - Sequence 356804 from Patent EP1572962.
JD163859 - Sequence 144883 from Patent EP1572962.
JD217847 - Sequence 198871 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_carm-erPathway - CARM1 and Regulation of the Estrogen Receptor

Reactome (by CSHL, EBI, and GO)

Protein Q99623 (Reactome details) participates in the following event(s):

R-HSA-8949661 C2orf47:AFG3L2 binds the transit peptide of SMDT1
R-HSA-8949649 PMPCA:PMPCB cleaves the transit peptide of proSMDT1 (proEMRE)
R-HSA-8949664 Processing of SMDT1
R-HSA-8949215 Mitochondrial calcium ion transport
R-HSA-382551 Transport of small molecules

-  Other Names for This Gene
  Alternate Gene Symbols: BAP, CCDS53741, NM_001144831, NP_001138303, PHB2_HUMAN, Q2YDA4, Q7KYU3, Q92978, Q99623, REA
UCSC ID: uc021qug.1
RefSeq Accession: NM_001144831
Protein: Q99623 (aka PHB2_HUMAN)
CCDS: CCDS53741.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: CCDS53741.1
exon count: 10CDS single in 3' UTR: no RNA size: 1443
ORF size: 900CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1982.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 1
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.