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Aliases for INTS12 Gene

Aliases for INTS12 Gene

  • Integrator Complex Subunit 12 2 3 3 5
  • PHD Finger Protein 22 2 3 4
  • Hypothetical Nuclear Factor SBBI22 2 3
  • PHF22 3 4
  • SBBI22 3
  • INT12 3
  • Int12 4

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 Formation of HIV-1 elongation complex containing HIV-1 Tat and Gene Expression.

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 (PubMed:16239144). Mediates recruitment of cytoplasmic dynein to the nuclear envelope, probably as component of the INT complex (PubMed:23904267).

Gene Wiki entry for INTS12 Gene

Additional gene information 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

GeneHancer (GH) Regulatory Elements for INTS12 Gene

Promoters and enhancers for INTS12 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
GH04J105707 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE 668.2 +186.7 186744 4 CLOCK MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 GSTCD INTS12 TBCK LOC101929577 EEF1A1P9 AIMP1 LINC02173 LOC101929529 TET2 ARHGEF38
GH04J105894 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 666.9 -0.6 -635 4.2 PKNOX1 FOXA2 FEZF1 ZNF48 TCF12 ZNF121 GLIS2 RUNX3 SP3 NFIL3 INTS12 NPNT AIMP1 ENSG00000250740
GH04J105683 Enhancer 0.6 ENCODE 29.1 +212.8 212767 0.2 SMARCE1 NFIB DPF2 FOXA1 ZNF217 SP1 CTBP1 GATA3 RCOR1 CUX1 INTS12 GSTCD ENSG00000248778 ARHGEF38
GH04J105059 Enhancer 1.4 FANTOM5 Ensembl ENCODE 10.5 +835.1 835107 3.6 HDGF PKNOX1 SMAD1 STAT5A BMI1 BATF KLF5 IRF4 ZNF766 ZNF143 TET2 LOC100288146 ENSG00000252136 RNU6-351P ENSG00000248373 INTS12 ENSG00000276992
GH04J105713 Enhancer 0.8 Ensembl ENCODE 18.2 +181.4 181413 1.3 MEIS2 PKNOX1 ATF4 POLR2A IKZF1 PRDM1 RUNX3 IKZF2 INTS12 GSTCD LOC101929529
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around INTS12 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the INTS12 gene promoter:
  • POU2F1a
  • POU2F1
  • FOXO4
  • LCR-F1
  • Cdc5
  • S8
  • Pax-4a
  • XBP-1
  • HSF1 (long)
  • HSF1short

Genomic Locations for INTS12 Gene

Genomic Locations for INTS12 Gene
chr4:105,682,627-105,895,986
(GRCh38/hg38)
Size:
213,360 bases
Orientation:
Minus strand
chr4:106,603,784-106,817,143
(GRCh37/hg19)
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, INTS11/CPSF3L 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

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins

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 (PubMed:16239144). Mediates recruitment of cytoplasmic dynein to the nuclear envelope, probably as component of the INT complex (PubMed:23904267).

Phenotypes From GWAS Catalog for INTS12 Gene

Gene Ontology (GO) - Molecular Function for INTS12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16239144
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:
  • Ints12 Ints12<tm1a(EUCOMM)Wtsi>
  • Ints12 Ints12<tm1b(EUCOMM)Wtsi>

Animal Model Products

miRNA for INTS12 Gene

miRTarBase miRNAs that target INTS12

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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (3)
  • Nucleoplasm (3)
  • Cytosol (1)
  • Plasma membrane (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for INTS12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 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 by RNA polymerase II 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

mRNA/cDNA for INTS12 Gene

Unigene Clusters for INTS12 Gene

Integrator complex subunit 12:
Representative Sequences:

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, 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

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 33
  • 99.64 (n)
OneToOne
dog
(Canis familiaris)
Mammalia INTS12 34 33
  • 92.24 (n)
OneToOne
cow
(Bos Taurus)
Mammalia INTS12 34 33
  • 91.5 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ints12 16 34 33
  • 88.15 (n)
rat
(Rattus norvegicus)
Mammalia Ints12 33
  • 86.37 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia INTS12 34
  • 84 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia INTS12 34
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves INTS12 34 33
  • 74.31 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia INTS12 34
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ints12 33
  • 64.36 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.13619 33
zebrafish
(Danio rerio)
Actinopterygii ints12 34 34
  • 60 (a)
OneToMany
LOC100334713 33
  • 59.7 (n)
fruit fly
(Drosophila melanogaster)
Insecta IntS12 34
  • 27 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5374 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for INTS12: view image

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 Variation AA Info Type
rs1000025192 -- 105,701,632(-) A/G intron_variant
rs1000169514 -- 105,694,973(-) G/A intron_variant
rs1000263456 -- 105,709,236(-) T/C upstream_transcript_variant
rs1000296049 -- 105,708,970(-) C/G upstream_transcript_variant
rs1000304162 -- 105,708,087(-) T/G 5_prime_UTR_variant, intron_variant

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)

Additional Variant Information 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

Additional Disease Information for INTS12

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

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 58
  2. Nuclear-localized Asunder regulates cytoplasmic dynein localization via its role in the integrator complex. (PMID: 23904267) Jodoin JN … Lee LA (Molecular biology of the cell 2013) 3 4 58
  3. Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function. (PMID: 20010835) Hancock DB … London SJ (Nature genetics 2010) 3 44 58
  4. 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 BP (Human molecular genetics 2010) 3 44 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for INTS12 Gene

Sources for INTS12 Gene

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