DNTTIP2 deoxynucleotidyltransferase terminal interacting protein 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DNTTIP2provided by HGNC
Official Full Name: deoxynucleotidyltransferase terminal interacting protein 2provided by HGNC
Primary source: HGNC:HGNC:24013
See related: Ensembl:ENSG00000067334 MIM:611199; AllianceGenome:HGNC:24013
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ERBP; FCF2; TdIF2; HSU15552; LPTS-RP2
Summary: This gene is thought to be involved in chromatin remodeling and gene transcription. The encoded nuclear protein binds to and enhances the transcriptional activity of the estrogen receptor alpha, and also interacts with terminal deoxynucleotidyltransferase. The expression profile of this gene is a potential biomarker for chronic obstructive pulmonary disease. [provided by RefSeq, Dec 2010]
Expression: Ubiquitous expression in bone marrow (RPKM 37.4), testis (RPKM 17.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p22.1

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (93866284..93879206, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (93712032..93727460, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (94331840..94344762, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Depletion of DNTTIP2 Induces Cell Cycle Arrest in Pancreatic Cancer Cells.
Title: Depletion of DNTTIP2 Induces Cell Cycle Arrest in Pancreatic Cancer Cells.
The TdIF2 might promote hrDNAP activity by suppressing Tip60's HAT activity and promoting UBF acetylation.
Title: TdIF2 is a nucleolar protein that promotes rRNA gene promoter activity.
Observational study of gene-disease association. (HuGE Navigator)
Title: High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men.

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D1S2275 (e-PCR)
- UniSTS:153649

G02278 (e-PCR)
- UniSTS:17761

D11S2766 (e-PCR)
- UniSTS:151969

NoName (e-PCR)
- UniSTS:62643

SHGC-142922 (e-PCR)
- UniSTS:171742

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in RNA processing	IBA Inferred from Biological aspect of Ancestor more info
involved_in ribosomal small subunit biogenesis	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in chromosome	IDA Inferred from Direct Assay more info
is_active_in nucleolus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleolus	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
part_of small-subunit processome	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: deoxynucleotidyltransferase terminal-interacting protein 2

Names: LPTS-interacting protein 2; acidic 82 kDa protein mRNA; estrogen receptor binding protein; tdT-interacting factor 2

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.