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Aliases for INTS12 Gene

Aliases for INTS12 Gene

  • Integrator Complex Subunit 12 2 3 5
  • PHD Finger Protein 22 2 3 4
  • Hypothetical Nuclear Factor SBBI22 2 3
  • INT12 3 4
  • PHF22 3 4
  • SBBI22 3

External Ids for INTS12 Gene

Previous HGNC Symbols for INTS12 Gene

  • PHF22

Previous GeneCards Identifiers for INTS12 Gene

  • GC04M106823
  • GC04M106603
  • GC04M102338

Summaries for INTS12 Gene

Entrez Gene Summary for INTS12 Gene

  • 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]

GeneCards Summary for INTS12 Gene

INTS12 (Integrator Complex Subunit 12) is a Protein Coding gene. Among its related pathways are Gene Expression and RNA polymerase II transcribes snRNA genes.

UniProtKB/Swiss-Prot for INTS12 Gene

  • 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.

Gene Wiki entry for INTS12 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for INTS12 Gene

Genomics for INTS12 Gene

Regulatory Elements for INTS12 Gene

Enhancers for INTS12 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04G105707 1.2 ENCODE 18.2 +186.7 186745 4.0 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF416 ZNF143 ZNF263 SP3 LOC101929577 INTS12 LOC101929529 EEF1A1P9 TET2 GSTCD
GH04G105894 1.2 Ensembl ENCODE 16.9 -0.6 -636 4.2 PKNOX1 FOXA2 FEZF1 ZNF48 TCF12 ZNF121 GLIS2 SP3 GLIS1 ZZZ3 INTS12 ENSG00000250740 LOC101929558
GH04G105683 0.6 ENCODE 29.1 +212.8 212768 0.2 ZNF217 CTBP1 NFIB CUX1 RCOR1 DPF2 RAD21 FOXA1 INTS12 GSTCD ENSG00000248778
GH04G105713 0.9 Ensembl ENCODE 18.2 +181.4 181413 1.3 PKNOX1 CHD1 EP300 FOXM1 POLR2A PBX2 IKZF1 RELB PRDM1 IKZF2 INTS12 GSTCD LOC101929529
GH04G105808 0.9 Ensembl ENCODE 17 +87.2 87177 1.3 RFX1 ZNF175 CEBPG FOSL1 JUND GATA3 GATA2 ATF3 FOXJ2 TCF7L2 INTS12 LOC101929529 GSTCD
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around INTS12 on UCSC Golden Path with GeneCards custom track

Promoters for INTS12 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000171482 386 1201 ZSCAN4 ZNF76 KLF17 FEZF1 ZNF121 GLIS2 SCRT2 EGR2 SP3 CBFB

Genomic Location for INTS12 Gene

Chromosome:
4
Start:
105,682,627 bp from pter
End:
105,895,986 bp from pter
Size:
213,360 bases
Orientation:
Minus strand

Genomic View for INTS12 Gene

Genes around INTS12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
INTS12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for INTS12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for INTS12 Gene

Proteins for INTS12 Gene

  • Protein details for INTS12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96CB8-INT12_HUMAN
    Recommended name:
    Integrator complex subunit 12
    Protein Accession:
    Q96CB8
    Secondary Accessions:
    • B2RC48
    • Q3B6Z3
    • Q9HD71

    Protein attributes for INTS12 Gene

    Size:
    462 amino acids
    Molecular mass:
    48808 Da
    Quaternary structure:
    • 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.
    SequenceCaution:
    • Sequence=AAF99604.1; Type=Frameshift; Positions=439; Evidence={ECO:0000305};

neXtProt entry for INTS12 Gene

Post-translational modifications for INTS12 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for INTS12 Gene

Domains & Families for INTS12 Gene

Gene Families for INTS12 Gene

Suggested Antigen Peptide Sequences for INTS12 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96CB8

UniProtKB/Swiss-Prot:

INT12_HUMAN :
  • Belongs to the Integrator subunit 12 family.
Family:
  • Belongs to the Integrator subunit 12 family.
genes like me logo Genes that share domains with INTS12: view

Function for INTS12 Gene

Molecular function for INTS12 Gene

UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for INTS12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16239144
GO:0008270 zinc ion binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with INTS12: view
genes like me logo Genes that share phenotypes with INTS12: view

Animal Models for INTS12 Gene

MGI Knock Outs for INTS12:

Animal Model Products

CRISPR Products

miRNA for INTS12 Gene

miRTarBase miRNAs that target INTS12

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for INTS12 Gene

Localization for INTS12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for INTS12 Gene

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 INTS12 gene
Compartment Confidence
nucleus 5
cytosol 4
plasma membrane 2

Gene Ontology (GO) - Cellular Components for INTS12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 23904267
GO:0005654 nucleoplasm TAS --
GO:0032039 integrator complex IDA 16239144
genes like me logo Genes that share ontologies with INTS12: view

Pathways & Interactions for INTS12 Gene

genes like me logo Genes that share pathways with INTS12: view

Pathways by source for INTS12 Gene

2 Reactome pathways for INTS12 Gene

Gene Ontology (GO) - Biological Process for INTS12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016180 snRNA processing IDA 16239144
GO:0042795 snRNA transcription from RNA polymerase II promoter TAS --
genes like me logo Genes that share ontologies with INTS12: view

No data available for SIGNOR curated interactions for INTS12 Gene

Drugs & Compounds for INTS12 Gene

No Compound Related Data Available

Transcripts for INTS12 Gene

Unigene Clusters for INTS12 Gene

Integrator complex subunit 12:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for INTS12 Gene

No ASD Table

Relevant External Links for INTS12 Gene

GeneLoc Exon Structure for
INTS12
ECgene alternative splicing isoforms for
INTS12

Expression for INTS12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for INTS12 Gene

Protein differential expression in normal tissues from HIPED for INTS12 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (22.1), Plasma (10.4), and CD8 Tcells (9.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for INTS12 Gene



Protein tissue co-expression partners for INTS12 Gene

NURSA nuclear receptor signaling pathways regulating expression of INTS12 Gene:

INTS12

SOURCE GeneReport for Unigene cluster for INTS12 Gene:

Hs.480454

Evidence on tissue expression from TISSUES for INTS12 Gene

  • Nervous system(4.5)
  • Intestine(4.2)
  • Liver(4.2)
genes like me logo Genes that share expression patterns with INTS12: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for INTS12 Gene

Orthologs for INTS12 Gene

This gene was present in the common ancestor of animals.

Orthologs for INTS12 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia INTS12 34 35
  • 99.64 (n)
dog
(Canis familiaris)
Mammalia INTS12 34 35
  • 92.24 (n)
cow
(Bos Taurus)
Mammalia INTS12 34 35
  • 91.5 (n)
mouse
(Mus musculus)
Mammalia Ints12 34 16 35
  • 88.15 (n)
rat
(Rattus norvegicus)
Mammalia Ints12 34
  • 86.37 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia INTS12 35
  • 84 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia INTS12 35
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves INTS12 34 35
  • 74.31 (n)
lizard
(Anolis carolinensis)
Reptilia INTS12 35
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ints12 34
  • 64.36 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.13619 34
zebrafish
(Danio rerio)
Actinopterygii ints12 35 35
  • 60 (a)
OneToMany
LOC100334713 34
  • 59.7 (n)
fruit fly
(Drosophila melanogaster)
Insecta IntS12 35
  • 27 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5374 35
  • 42 (a)
OneToOne
Species where no ortholog for INTS12 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 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)
  • worm (Caenorhabditis elegans)

Evolution for INTS12 Gene

ENSEMBL:
Gene Tree for INTS12 (if available)
TreeFam:
Gene Tree for INTS12 (if available)

Paralogs for INTS12 Gene

No data available for Paralogs for INTS12 Gene

Variants for INTS12 Gene

Sequence variations from dbSNP and Humsavar for INTS12 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs1000025192 -- 105,701,632(+) GCCTA(A/G)TCTCT intron-variant
rs1000169514 -- 105,694,973(+) AGGCT(A/G)GAGTG intron-variant
rs1000263456 -- 105,709,236(+) CTCGG(C/T)AGTAC intron-variant, upstream-variant-2KB
rs1000296049 -- 105,708,970(+) GTCGC(C/G)GACAC nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime
rs1000304162 -- 105,708,087(+) AAACA(G/T)TATTT intron-variant, upstream-variant-2KB, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for INTS12 Gene

Variant ID Type Subtype PubMed ID
nsv1000196 CNV loss 25217958

Variation tolerance for INTS12 Gene

Residual Variation Intolerance Score: 18.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.91; 18.94% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for INTS12 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
INTS12

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for INTS12 Gene

Disorders for INTS12 Gene

Relevant External Links for INTS12

Genetic Association Database (GAD)
INTS12
Human Genome Epidemiology (HuGE) Navigator
INTS12
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
INTS12

No disorders were found for INTS12 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for INTS12 Gene

Publications for INTS12 Gene

  1. Integrator, a multiprotein mediator of small nuclear RNA processing, associates with the C-terminal repeat of RNA polymerase II. (PMID: 16239144) Baillat D. … Shiekhattar R. (Cell 2005) 2 3 4 64
  2. Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function. (PMID: 20010835) Hancock D.B. … London S.J. (Nat. Genet. 2010) 3 46 64
  3. A systematic gene-based screen of chr4q22-q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts. (PMID: 20332099) Kalsi G. … Riley B.P. (Hum. Mol. Genet. 2010) 3 46 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. Proteomic analyses reveal distinct chromatin-associated and soluble transcription factor complexes. (PMID: 25609649) Li X. … Chen J. (Mol. Syst. Biol. 2015) 3 64

Products for INTS12 Gene

Sources for INTS12 Gene

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