DIRC3 disrupted in renal carcinoma 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DIRC3provided by HGNC
Official Full Name: disrupted in renal carcinoma 3provided by HGNC
Primary source: HGNC:HGNC:17805
See related: Ensembl:ENSG00000231672 MIM:608262; AllianceGenome:HGNC:17805
Gene type: ncRNA
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Expression: Low expression observed in reference dataset See more
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Genomic context

Location:: 2q35

Exon count:: 28

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (217284019..217790443, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (217766488..218273757, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (218148742..218655166, complement)

Chromosome 2 - NC_000002.12 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?

lncRNA DIRC3 regulates invasiveness and insulin-like growth factor signaling in thyroid cancer cells.
Title: lncRNA DIRC3 regulates invasiveness and insulin-like growth factor signaling in thyroid cancer cells.
DIRC3 depletion in human melanoma cells leads to increased anchorage-independent growth, a hallmark of malignant transformation, whilst melanoma patients classified by low DIRC3 expression have decreased survival. These results suggest that DIRC3 may be a novel clinically important melanoma tumor suppressor gene.
Title: The MITF-SOX10 regulated long non-coding RNA DIRC3 is a melanoma tumour suppressor.
SNPs rs11903757, with closest proximity to NABP1 and SDPR, and rs966423 in DIRC3, were associated with survival in laryngeal squamous cell carcinoma patients.
Title: DIRC3 and near NABP1 genetic polymorphisms are associated laryngeal squamous cell carcinoma patient survival.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Discovery of common variants associated with low TSH levels and thyroid cancer risk. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study on differentiated thyroid cancer. EBI GWAS Catalog EBI GWAS CatalogPubMed
Hundreds of variants clustered in genomic loci and biological pathways affect human height. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry. EBI GWAS Catalog EBI GWAS CatalogPubMed
Large-scale genotyping identifies 41 new loci associated with breast cancer risk. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. 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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D2S1286 (e-PCR)
- UniSTS:39178

D2S1371 (e-PCR)
- UniSTS:59421

SHGC-144143 (e-PCR)
- UniSTS:174133

SHGC-143297 (e-PCR)
- UniSTS:171842

REN44432 (e-PCR)
- UniSTS:369232

SHGC-84896 (e-PCR)
- UniSTS:104789

D2S295 (e-PCR), detects polymorphism
- UniSTS:1882

SHGC-79260 (e-PCR)
- UniSTS:102790

RH80987 (e-PCR)
- UniSTS:93065

D2S434 (e-PCR), detects polymorphism
- UniSTS:60315

RH93263 (e-PCR)
- UniSTS:85486

D2S2210 (e-PCR), detects polymorphism
- UniSTS:29686

RH103713 (e-PCR)
- UniSTS:98038

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.