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C16orf78 chromosome 16 open reading frame 78 [ Homo sapiens (human) ]

Gene ID: 123970, updated on 17-Jun-2024

Summary

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Official Symbol
C16orf78provided by HGNC
Official Full Name
chromosome 16 open reading frame 78provided by HGNC
Primary source
HGNC:HGNC:28479
See related
Ensembl:ENSG00000166152 AllianceGenome:HGNC:28479
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
Located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Restricted expression toward testis (RPKM 18.9) See more
Orthologs
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Genomic context

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See C16orf78 in Genome Data Viewer
Location:
16q12.1
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (49373804..49399431)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (55171560..55197187)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (49407715..49433342)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371243 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:49346697-49347196 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:49346195-49346696 Neighboring gene uncharacterized LOC124903689 Neighboring gene Sharpr-MPRA regulatory region 1482 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:49388576-49389094 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:49389095-49389612 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:49390729-49391657 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr16:49403360-49403941 Neighboring gene uncharacterized LOC105371244 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:49407168-49407898 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:49407899-49408629 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:49464652-49465152 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:49465153-49465653 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:49475185-49476132 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:49477189-49477690 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:49498687-49499188 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7461 Neighboring gene long intergenic non-protein coding RNA 2179 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:49526437-49527060 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:49527061-49527682 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10804 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10805 Neighboring gene zinc finger protein 423 Neighboring gene ADAM metallopeptidase domain 3B (pseudogene)

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants. Tao S, et al. Carcinogenesis, 2012 Mar. PMID 22219177, Free PMC Article
  2. Protein array based interactome analysis of amyloid-β indicates an inhibition of protein translation. Virok DP, et al. J Proteome Res, 2011 Apr 1. PMID 21244100
  3. The protein interaction landscape of the human CMGC kinase group. Varjosalo M, et al. Cell Rep, 2013 Apr 25. PMID 23602568
  4. Proteomic characterization of the human sperm nucleus. de Mateo S, et al. Proteomics, 2011 Jul. PMID 21630459
  5. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. Lamesch P, et al. Genomics, 2007 Mar. PMID 17207965, Free PMC Article

See all (7) citations in PubMed

GeneRIFs: Gene References Into Functions

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
A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC33367

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in nucleus HDA PubMed 

General protein information

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Preferred Names
uncharacterized protein C16orf78

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_144602.4 → NP_653203.1  uncharacterized protein C16orf78

    See identical proteins and their annotated locations for NP_653203.1

    Status: VALIDATED

    Source sequence(s)
    AC007614, AI478870, BC021181, HY001804
    Consensus CDS
    CCDS10738.1
    UniProtKB/Swiss-Prot
    Q8WTQ4
    Related
    ENSP00000299191.3, ENST00000299191.4
    Conserved Domains (1) summary
    pfam15472
    Location:1 → 264
    DUF4638; Domain of unknown function (DUF4638)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    49373804..49399431
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    55171560..55197187
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8WTQ4.1 GenPept UniProtKB/Swiss-Prot:Q8WTQ4

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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