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

Gene ID: 285382, updated on 9-Dec-2024

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
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Genomic context

See C3orf70 in Genome Data Viewer
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_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374253 Neighboring gene Sharpr-MPRA regulatory region 13352 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:184498897-184499397 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:184508256-184508756 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20914 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20915 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14970 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14971 Neighboring gene VPS8 subunit of CORVET complex Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20916 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:184624367-184625028 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:184625029-184625689 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:184629832-184630395 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:184787208-184787708 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:184788784-184788991 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:184792904-184793404 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:184797955-184798456 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:184798457-184798956 Neighboring gene Sharpr-MPRA regulatory region 10617 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14972 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20917 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr3:184892998-184893522 and GRCh37_chr3:184893523-184894047 Neighboring gene EHHADH antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20918 Neighboring gene enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase Neighboring gene eukaryotic translation initiation factor 2 subunit 2 beta pseudogene 2

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

EBI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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
 

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)

  1. NM_001025266.3NP_001020437.1  UPF0524 protein C3orf70

    See identical proteins and their annotated locations for NP_001020437.1

    Status: VALIDATED

    Source sequence(s)
    AC007934, AC025573, BC150565, BM683735, HY136108
    Consensus CDS
    CCDS33900.1
    UniProtKB/Swiss-Prot
    A6NLC5, B2RNY2, B9EH83
    Related
    ENSP00000334974.2, ENST00000335012.3
    Conserved Domains (1) summary
    pfam15823
    Location:14250
    UPF0524; UPF0524 of C3orf70

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    185076838..185153060 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    187892871..187969068 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)