Human Gene TMPO (uc001tfh.2)
  Description: Homo sapiens thymopoietin (TMPO), transcript variant 1, mRNA.
RefSeq Summary (NM_003276): Through alternative splicing, this gene encodes several distinct LEM domain containing protein isoforms. LEM domain proteins include inner nuclear membrane and intranuclear proteins, and are involved in a variety of cellular functions including gene expression, chromatin organization, and replication and cell cycle control. The encoded alpha isoform is broadly diffuse in the nucleus and contains a lamin binding domain, while the beta and gamma isoforms are localized to the nuclear membrane and contain an HDAC3 interaction domain. The distinct isoforms may compete with each other when acting to chaperone other proteins and regulate transcription. [provided by RefSeq, Aug 2019].
Transcript (Including UTRs)
   Position: hg19 chr12:98,909,351-98,929,412 Size: 20,062 Total Exon Count: 4 Strand: +
Coding Region
   Position: hg19 chr12:98,909,646-98,928,120 Size: 18,475 Coding Exon Count: 4 

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

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:98,909,351-98,929,412)mRNA (may differ from genome)Protein (694 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHGNCHPRDLynxMalacardsMGI
neXtProtOMIMPubMedReactomeTreefamUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: LAP2A_HUMAN
DESCRIPTION: RecName: Full=Lamina-associated polypeptide 2, isoform alpha; AltName: Full=Thymopoietin isoform alpha; Short=TP alpha; AltName: Full=Thymopoietin-related peptide isoform alpha; Short=TPRP isoform alpha; Contains: RecName: Full=Thymopoietin; Short=TP; AltName: Full=Splenin; Contains: RecName: Full=Thymopentin; AltName: Full=TP5;
FUNCTION: May be involved in the structural organization of the nucleus and in the post-mitotic nuclear assembly. Plays an important role, together with LMNA, in the nuclear anchorage of RB1.
FUNCTION: TP and TP5 may play a role in T-cell development and function. TP5 is an immunomodulating pentapeptide.
SUBUNIT: Interacts with LMNA, BANF1 and RB1 and with chromosomes. Associates directly or indirectly with lamins at specific cell- cycle stages.
SUBCELLULAR LOCATION: Nucleus. Chromosome. Note=Expressed diffusely throughout the nucleus.
TISSUE SPECIFICITY: Expressed in many tissues. Most abundant in adult thymus and fetal liver.
DOMAIN: The N-terminal part contains two structurally independent, non-interacting domains: LEM-like (also called LAP2-N or LEM-D) and LEM (also called LAP2-C or LEM-B). LEM-like binds DNA while LEM interacts with BANF1.
DOMAIN: The C-terminal domain forms a four-stranded coiled coil (By similarity).
PTM: Phosphorylated in a mitose-specific manner.
DISEASE: Defects in TMPO are the cause of cardiomyopathy dilated type 1T (CMD1T) [MIM:613740]. A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
PHARMACEUTICAL: TP5 is available under the names Timunox (Cilag), Sintomodulina (Italofarmaco) and Mepentil (Recordati). Used in primary and secondary immune deficiencies, autoimmunity, infections and cancer.
SIMILARITY: Belongs to the LEM family.
SIMILARITY: Contains 1 LEM domain.
SIMILARITY: Contains 1 LEM-like domain.

-  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): TMPO
CDC HuGE Published Literature: TMPO

-  MalaCards Disease Associations
  MalaCards Gene Search: TMPO
Diseases sorted by gene-association score: tmpo-related dilated cardiomyopathy* (100), familial isolated dilated cardiomyopathy* (85), alopecia totalis (18), dysentery (11), emery-dreifuss muscular dystrophy (10), dilated cardiomyopathy (9), reynolds syndrome (7), myasthenia gravis (7), bronchitis (6), herpes zoster (6), immune defect due to absence of thymus (6), oral candidiasis (5), hutchinson-gilford progeria (5), cardiomyopathy (3)
* = Manually curated disease association

-  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: 38.76 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 326.19 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 -148.90295-0.505 Picture PostScript Text
3' UTR -283.911292-0.220 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
IPR021623 - LAP2alpha
IPR003887 - LEM
IPR011015 - LEM-like_dom
IPR013146 - Thymopoietin_LEM

Pfam Domains:
PF03020 - LEM domain
PF08198 - Thymopoietin protein
PF11560 - Lamina-associated polypeptide 2 alpha

SCOP Domains:
63451 - LEM domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1GJJ - NMR MuPIT 1H9E - NMR 1H9F - NMR


ModBase Predicted Comparative 3D Structure on P42166
FrontTopSide
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 BrowserNo orthologNo orthologNo orthologNo ortholog
 Gene Details    
 Gene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003677 DNA binding
GO:0005515 protein binding
GO:0005521 lamin binding
GO:0045296 cadherin binding

Biological Process:
GO:0006355 regulation of transcription, DNA-templated

Cellular Component:
GO:0000785 chromatin
GO:0005634 nucleus
GO:0005635 nuclear envelope
GO:0005694 chromosome


-  Descriptions from all associated GenBank mRNAs
  BC050383 - Homo sapiens cDNA clone IMAGE:6042673, containing frame-shift errors.
BC053675 - Homo sapiens thymopoietin, mRNA (cDNA clone MGC:61508 IMAGE:6170639), complete cds.
U09087 - Human thymopoietin beta mRNA, complete cds.
U09088 - Human thymopoietin gamma mRNA, complete cds.
AF070631 - Homo sapiens clone 24604 thymopoietin gamma mRNA, complete cds.
AB209297 - Homo sapiens mRNA for Lamina-associated polypeptide 2, isoforms beta/gamma variant protein.
AK315221 - Homo sapiens cDNA, FLJ96218.
U09086 - Human thymopoietin alpha mRNA, complete cds.
S76736 - TRPP=thymopoietin-related peptide [human, thymus, mRNA Partial, 1779 nt].
JD143838 - Sequence 124862 from Patent EP1572962.
EF028063 - Homo sapiens thymopoietin zeta isoform (TMPO) mRNA, complete cds.
JD391644 - Sequence 372668 from Patent EP1572962.
CU691026 - Synthetic construct Homo sapiens gateway clone IMAGE:100021730 5' read TMPO mRNA.
AB529086 - Synthetic construct DNA, clone: pF1KB4178, Homo sapiens TMPO gene for thymopoietin, without stop codon, in Flexi system.
HQ448090 - Synthetic construct Homo sapiens clone IMAGE:100071470; CCSB011923_01 thymopoietin (TMPO) gene, encodes complete protein.
KJ892289 - Synthetic construct Homo sapiens clone ccsbBroadEn_01683 TMPO gene, encodes complete protein.
AK299708 - Homo sapiens cDNA FLJ51293 complete cds, highly similar to Lamina-associated polypeptide 2, isoforms beta/gamma.
JD553150 - Sequence 534174 from Patent EP1572962.
JD508989 - Sequence 490013 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: LAP2, LAP2A_HUMAN, NM_003276, NP_003267, P08918, P08919, P42166, Q14860, Q16295
UCSC ID: uc001tfh.2
RefSeq Accession: NM_003276
Protein: P42166 (aka LAP2A_HUMAN or LP2A_HUMAN)
CCDS: CCDS9064.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene TMPO:
dcm-ov (Dilated Cardiomyopathy Overview)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_003276.2
exon count: 4CDS single in 3' UTR: no RNA size: 3690
ORF size: 2085CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 4370.00frame shift in genome: no % Coverage: 99.51
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
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.