INTS12 integrator complex subunit 12 [Homo sapiens (human)] - Gene

Summary

Official Symbol: INTS12provided by HGNC
Official Full Name: integrator complex subunit 12provided by HGNC
Primary source: HGNC:HGNC:25067
See related: Ensembl:ENSG00000138785 MIM:611355; AllianceGenome:HGNC:25067
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: INT12; PHF22; SBBI22
Summary: 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]
Expression: Ubiquitous expression in thyroid (RPKM 6.3), bone marrow (RPKM 5.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 4q24

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (105682627..105708689, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (108993748..109019869, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (106603784..106629846, complement)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

INTS12 activities on a genome-wide scale
Title: Lung function associated gene Integrator Complex subunit 12 regulates protein synthesis pathways.
In fixed sections of human lung tissue, GSTCD protein expression was ubiquitous, whereas INTS12 expression was predominantly in epithelial cells and pneumocytes.
Title: GSTCD and INTS12 regulation and expression in the human lung.
Observational study of gene-disease association. (HuGE Navigator)
Title: 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.
Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Gene network analysis in a pediatric cohort identifies novel lung function genes. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of integrator complex subunit 12 (INTS12; SBBI22) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G33866 (e-PCR)
- UniSTS:70674

G33860 (e-PCR)
- UniSTS:51013

SHGC-8562 (e-PCR)
- UniSTS:58457

D4S2512E (e-PCR)
- UniSTS:40317

SHGC-59800 (e-PCR)
- UniSTS:65479

RH12718 (e-PCR)
- UniSTS:61130

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in regulation of transcription elongation by RNA polymerase II	NAS Non-traceable Author Statement more info	PubMed
involved_in snRNA 3'-end processing	IBA Inferred from Biological aspect of Ancestor more info
involved_in snRNA processing	IDA Inferred from Direct Assay more info	PubMed
involved_in snRNA processing	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of integrator complex	IBA Inferred from Biological aspect of Ancestor more info
part_of integrator complex	IDA Inferred from Direct Assay more info	PubMed
part_of integrator complex	NAS Non-traceable Author Statement more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: integrator complex subunit 12

Names: PHD finger protein 22; hypothetical nuclear factor SBBI22

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001142471.2 → NP_001135943.1 integrator complex subunit 12

See identical proteins and their annotated locations for NP_001135943.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) omits an alternate exon in the 5'UTR. Variants 1 and 2 encode the same protein.

Source sequence(s)

AK314939, BK005729

Consensus CDS

CCDS3671.1

UniProtKB/Swiss-Prot

B2RC48, Q3B6Z3, Q96CB8, Q9HD71

Related

ENSP00000415433.2, ENST00000451321.6

Conserved Domains (1) summary

cd15501
Location:161 → 212

PHD_Int12; PHD finger found in integrator complex subunit 12 (Int12) and similar proteins
NM_020395.4 → NP_065128.2 integrator complex subunit 12

See identical proteins and their annotated locations for NP_065128.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) includes an alternate exon in the 5'UTR. Variants 1 and 2 encode the same protein.

Source sequence(s)

AK314939, BC014442

Consensus CDS

CCDS3671.1

UniProtKB/Swiss-Prot

B2RC48, Q3B6Z3, Q96CB8, Q9HD71

Related

ENSP00000340737.5, ENST00000340139.10

Conserved Domains (1) summary

cd15501
Location:161 → 212

PHD_Int12; PHD finger found in integrator complex subunit 12 (Int12) and similar proteins