C3orf70 chromosome 3 open reading frame 70 [Homo sapiens (human)] - Gene

Summary

Official Symbol: C3orf70provided by HGNC
Official Full Name: chromosome 3 open reading frame 70provided by HGNC
Primary source: HGNC:HGNC:33731
See related: Ensembl:ENSG00000187068 AllianceGenome:HGNC:33731
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
Summary: Predicted to be involved in circadian behavior and nervous system development. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in brain (RPKM 8.0), endometrium (RPKM 5.3) and 20 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3q27.2

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (185076838..185153060, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (187892871..187969068, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (184794626..184870848, complement)

Chromosome 3 - NC_000003.12 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?

An Epithelial-Mesenchymal Transition (EMT) Preoperative Nomogram for Prediction of Lymph Node Metastasis in Bladder Cancer (BLCA).
Title: An Epithelial-Mesenchymal Transition (EMT) Preoperative Nomogram for Prediction of Lymph Node Metastasis in Bladder Cancer (BLCA).

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
Genome-wide association study of major depressive disorder: new results, meta-analysis, and lessons learned. 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

SHGC-77613 (e-PCR)
- UniSTS:4120

D8S2279 (e-PCR)
- UniSTS:473907

RH119259 (e-PCR)
- UniSTS:133822

D22S958 (e-PCR)
- UniSTS:259319

Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
involved_in circadian behavior	ISS Inferred from Sequence or Structural Similarity more info
involved_in nervous system development	IBA Inferred from Biological aspect of Ancestor more info
involved_in nervous system development	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: UPF0524 protein C3orf70

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.