DDIT4L DNA damage inducible transcript 4 like [Homo sapiens (human)] - Gene

Summary

Official Symbol: DDIT4Lprovided by HGNC
Official Full Name: DNA damage inducible transcript 4 likeprovided by HGNC
Primary source: HGNC:HGNC:30555
See related: Ensembl:ENSG00000145358 MIM:607730; AllianceGenome:HGNC:30555
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: REDD2; Rtp801L
Summary: Predicted to be involved in negative regulation of signal transduction. Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Oct 2024]
Expression: Biased expression in prostate (RPKM 12.6), kidney (RPKM 5.8) and 10 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 4q24

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (100185870..100190468, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (103501503..103506101, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (101107027..101111625, complement)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues 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?

mediates monocyte cell death through a reduction in thioredoxin-1 expression
Title: The regulated in development and DNA damage response 2 (REDD2) gene mediates human monocyte cell death through a reduction in thioredoxin-1 expression.
Promoter methylation and differential gene expression of five markers: COL1A2, NPM2, HSPB6, DDIT4L and MT1G were validated by sequencing of bisulfite-modified DNA and real-time reverse transcriptase PCR, respectively.
Title: Genome-wide screen of promoter methylation identifies novel markers in melanoma.
RTP801 and RTP801L work downstream of AKT and upstream of TSC2 to inhibit mTOR functions
Title: The stress-inducted proteins RTP801 and RTP801L are negative regulators of the mammalian target of rapamycin pathway.

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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

D4S2493E (e-PCR)
- UniSTS:22019

SHGC-8633 (e-PCR)
- UniSTS:88908

Ddit4l (e-PCR), detects polymorphism
- UniSTS:498342

SHGC-50253 (e-PCR)
- UniSTS:76744

SHGC-24757 (e-PCR)
- UniSTS:22219

Gene Ontology Provided by GOA

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

Process	Evidence Code	Pubs
involved_in negative regulation of signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: DNA damage-inducible transcript 4-like protein

Names: HIF-1 responsive protein RTP801-like; REDD-2; homolog of mouse SMHS1; protein regulated in development and DNA damage response 2; regulated in development and DNA damage response 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.