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C2orf66 chromosome 2 open reading frame 66 [ Homo sapiens (human) ]

Gene ID: 401027, updated on 3-Apr-2024

Summary

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Official Symbol
C2orf66provided by HGNC
Official Full Name
chromosome 2 open reading frame 66provided by HGNC
Primary source
HGNC:HGNC:33809
See related
Ensembl:ENSG00000187944 AllianceGenome:HGNC:33809
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
UNQ6411; IIDS6411
Summary
Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Low expression observed in reference dataset See more
Orthologs
mouse all
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Genomic context

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See C2orf66 in Genome Data Viewer
Location:
2q33.1
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (196804417..196832139, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (197288090..197315820, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (197669141..197674079, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene coiled-coil domain containing 150 Neighboring gene uncharacterized LOC100130452 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16912 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16913 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16914 Neighboring gene general transcription factor IIIC subunit 3 Neighboring gene post-GPI attachment to proteins inositol deacylase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16915 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12206 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12207 Neighboring gene ankyrin repeat domain 44 Neighboring gene heterogeneous nuclear ribonucleoprotein A3 pseudogene 15

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. The Oncogenic PRL Protein Causes Acid Addiction of Cells by Stimulating Lysosomal Exocytosis. Funato Y, et al. Dev Cell, 2020 Nov 23. PMID 32918875
  2. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. Clark HF, et al. Genome Res, 2003 Oct. PMID 12975309, Free PMC Article
  3. Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Huttlin EL, et al. Cell, 2021 May 27. PMID 33961781, Free PMC Article
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, 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

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
uncharacterized protein C2orf66

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_213608.3 → NP_998773.2  uncharacterized protein C2orf66 precursor

    Status: VALIDATED

    Source sequence(s)
    AC012486, AW768745, AY358249
    Consensus CDS
    CCDS2317.2
    UniProtKB/Swiss-Prot
    B2RNW3, Q6UXQ4
    UniProtKB/TrEMBL
    A0A5K1VW65
    Related
    ENSP00000339384.3, ENST00000342506.4
    Conserved Domains (1) summary
    pfam15846
    Location:17 → 98
    DUF4720; Domain of unknown function (DUF4720)

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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    196804417..196832139 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047444338.1 → XP_047300294.1  uncharacterized protein C2orf66 isoform X2

    UniProtKB/TrEMBL
    A0A5K1VW65

  2. XM_047444337.1 → XP_047300293.1  uncharacterized protein C2orf66 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    197288090..197315820 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054342041.1 → XP_054198016.1  uncharacterized protein C2orf66 isoform X2

    UniProtKB/TrEMBL
    A0A5K1VW65

  2. XM_054342040.1 → XP_054198015.1  uncharacterized protein C2orf66 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6UXQ4.1 GenPept UniProtKB/Swiss-Prot:Q6UXQ4

Gene LinkOut

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