Human Gene INTS12 (uc010ilr.3)
  Description: Homo sapiens integrator complex subunit 12 (INTS12), transcript variant 2, mRNA.
RefSeq Summary (NM_001142471): INTS12 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008].
Transcript (Including UTRs)
   Position: hg19 chr4:106,603,785-106,629,881 Size: 26,097 Total Exon Count: 7 Strand: -
Coding Region
   Position: hg19 chr4:106,603,890-106,621,162 Size: 17,273 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr4:106,603,785-106,629,881)mRNA (may differ from genome)Protein (462 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtOMIMPubMedReactomeUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: INT12_HUMAN
DESCRIPTION: RecName: Full=Integrator complex subunit 12; Short=Int12; AltName: Full=PHD finger protein 22;
FUNCTION: Component of the Integrator complex, a complex involved in the small nuclear RNAs (snRNA) U1 and U2 transcription and in their 3'-box-dependent processing. The Integrator complex is associated with the C-terminal domain (CTD) of RNA polymerase II largest subunit (POLR2A) and is recruited to the U1 and U2 snRNAs genes.
SUBUNIT: Belongs to the multiprotein complex Integrator, at least composed of INTS1, INTS2, INTS3, INTS4, INTS5, INTS6, INTS7, INTS8, INTS9/RC74, INTS10, CPSF3L/INTS11 and INTS12.
SUBCELLULAR LOCATION: Nucleus (Probable).
SIMILARITY: Contains 1 PHD-type zinc finger.
SEQUENCE CAUTION: Sequence=AAF99604.1; Type=Frameshift; Positions=439;

-  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): INTS12
CDC HuGE Published Literature: INTS12
Positive Disease Associations: Hypertension , pulmonary function , Respiratory Function Tests
Related Studies:
  1. Hypertension
    , , . [PubMed 0]
  2. pulmonary function
    Hancock ,et al. 2009, Meta-analyses of genome-wide assocation studies identify multiple loci associated with pulmonary function, Nature genetics 2010 42- 1 : 45-52. [PubMed 20010835]
  3. Respiratory Function Tests
    Dana B Hancock et al. Nature genetics 2010, Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function., Nature genetics. [PubMed 20010835]
           more ... click here to view the complete list

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  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: 10.60 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 241.81 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 -32.1096-0.334 Picture PostScript Text
3' UTR -17.00105-0.162 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
IPR019786 - Zinc_finger_PHD-type_CS
IPR011011 - Znf_FYVE_PHD
IPR001965 - Znf_PHD
IPR019787 - Znf_PHD-finger
IPR013083 - Znf_RING/FYVE/PHD

Pfam Domains:
PF00628 - PHD-finger

SCOP Domains:
57903 - FYVE/PHD zinc finger

ModBase Predicted Comparative 3D Structure on Q96CB8
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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 orthologNo orthologGenome BrowserGenome BrowserGenome BrowserNo ortholog
Gene Details  Gene DetailsGene Details 
Gene Sorter  Gene SorterGene Sorter 
  EnsemblFlyBaseWormBase 
  Protein SequenceProtein SequenceProtein Sequence 
  AlignmentAlignmentAlignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0046872 metal ion binding

Biological Process:
GO:0016180 snRNA processing
GO:0042795 snRNA transcription from RNA polymerase II promoter

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0032039 integrator complex


-  Descriptions from all associated GenBank mRNAs
  AF242524 - Homo sapiens hypothetical nuclear factor SBBI22 mRNA, complete cds.
BC014442 - Homo sapiens integrator complex subunit 12, mRNA (cDNA clone MGC:22964 IMAGE:4866321), complete cds.
JD038212 - Sequence 19236 from Patent EP1572962.
HQ447281 - Synthetic construct Homo sapiens clone IMAGE:100070592; CCSB007700_01 integrator complex subunit 12 (INTS12) gene, encodes complete protein.
KJ894391 - Synthetic construct Homo sapiens clone ccsbBroadEn_03785 INTS12 gene, encodes complete protein.
AK314939 - Homo sapiens cDNA, FLJ95851.
AB590687 - Synthetic construct DNA, clone: pFN21AE1147, Homo sapiens INTS12 gene for integrator complex subunit 12, without stop codon, in Flexi system.
CU676997 - Synthetic construct Homo sapiens gateway clone IMAGE:100019515 5' read INTS12 mRNA.
JD538516 - Sequence 519540 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q96CB8 (Reactome details) participates in the following event(s):

R-HSA-6814885 CBCAP complex binds 7-methylguanosine cap of snRNA
R-HSA-6807505 RNA polymerase II transcribes snRNA genes
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: B2RC48, INT12_HUMAN, NM_001142471, NP_065128, PHF22, Q3B6Z3, Q96CB8, Q9HD71, SBBI22
UCSC ID: uc010ilr.3
RefSeq Accession: NM_001142471
Protein: Q96CB8 (aka INT12_HUMAN)
CCDS: CCDS3671.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001142471.1
exon count: 7CDS single in 3' UTR: no RNA size: 1606
ORF size: 1389CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2978.00frame shift in genome: no % Coverage: 99.00
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.