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C2orf78 chromosome 2 open reading frame 78 [ Homo sapiens (human) ]

Gene ID: 388960, updated on 17-Sep-2024

Summary

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Official Symbol
C2orf78provided by HGNC
Official Full Name
chromosome 2 open reading frame 78provided by HGNC
Primary source
HGNC:HGNC:34349
See related
Ensembl:ENSG00000187833 AllianceGenome:HGNC:34349
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
COG5373; hCG1989538
Expression
Restricted expression toward testis (RPKM 6.1) See more
Orthologs
all
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Genomic context

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See C2orf78 in Genome Data Viewer
Location:
2p13.1
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (73784183..73817148)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (73797277..73825339)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (74011310..74044275)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16030 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16031 Neighboring gene TP53RK binding protein Neighboring gene ReSE screen-validated silencer GRCh37_chr2:73981125-73981308 Neighboring gene dual specificity phosphatase 11 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16032 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16033 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16034 Neighboring gene uncharacterized LOC105374807 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:74055859-74056077 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:74057585-74058784 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16035 Neighboring gene uncharacterized LOC112268419 Neighboring gene STAM binding protein

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 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. Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. Xiao T, et al. Proc Natl Acad Sci U S A, 2018 Jul 31. PMID 29987050, Free PMC Article
  2. In-Depth In Vivo Crosslinking in Minutes by a Compact, Membrane-Permeable, and Alkynyl-Enrichable Crosslinker. Gao H, et al. Anal Chem, 2022 May 31. PMID 35575683
  3. Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. Fasci D, et al. Mol Cell Proteomics, 2018 Oct. PMID 30021884, Free PMC Article

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

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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Homology

Clone Names

  • FLJ43987

General protein information

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Preferred Names
uncharacterized protein C2orf78

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_001080474.3 → NP_001073943.1  uncharacterized protein C2orf78

    See identical proteins and their annotated locations for NP_001073943.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein.
    Source sequence(s)
    AC092653, AC136006
    Consensus CDS
    CCDS46338.1
    UniProtKB/Swiss-Prot
    A6NCI8
    Related
    ENSP00000387124.1, ENST00000409561.2
    Conserved Domains (2) summary
    pfam15442
    Location:495 → 643
    DUF4629; Domain of unknown function (DUF4629)
    cl26464
    Location:711 → 881
    Atrophin-1; Atrophin-1 family

  2. NM_001353344.3 → NP_001340273.1  uncharacterized protein C2orf78

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate first exon compared to variant 1. Variants 1 and 2 both encode the same protein.
    Source sequence(s)
    AC136006
    UniProtKB/Swiss-Prot
    A6NCI8
    Conserved Domains (2) summary
    pfam15442
    Location:495 → 643
    DUF4629; Domain of unknown function (DUF4629)
    cl26464
    Location:711 → 881
    Atrophin-1; Atrophin-1 family

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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    73784183..73817148
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047444260.1 → XP_047300216.1  uncharacterized protein C2orf78 isoform X1

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_025791766.1 Reference GRCh38.p14 PATCHES

    Range
    453681..486646
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054333001.1 → XP_054188976.1  uncharacterized protein C2orf78 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    73797277..73825339
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054341960.1 → XP_054197935.1  uncharacterized protein C2orf78 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A6NCI8.3 GenPept UniProtKB/Swiss-Prot:A6NCI8

Gene LinkOut

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