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C2orf76 chromosome 2 open reading frame 76 [ Homo sapiens (human) ]

Gene ID: 130355, updated on 10-Oct-2023

Summary

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Official Symbol
C2orf76provided by HGNC
Official Full Name
chromosome 2 open reading frame 76provided by HGNC
Primary source
HGNC:HGNC:27017
See related
Ensembl:ENSG00000186132 AllianceGenome:HGNC:27017
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
AIM29
Expression
Ubiquitous expression in fat (RPKM 4.1), adrenal (RPKM 3.5) and 25 other tissues See more
Orthologs
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Genomic context

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See C2orf76 in Genome Data Viewer
Location:
2q14.2
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (119281130..119367151, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (119714590..119800689, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (120059801..120124727, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene STEAP3 metalloreductase Neighboring gene STEAP3 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:120011987-120012930 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:120013256-120014122 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:120016992-120017765 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11902 Neighboring gene uncharacterized LOC105373581 Neighboring gene NANOG hESC enhancer GRCh37_chr2:120049626-120050127 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:120051788-120052288 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:120052289-120052789 Neighboring gene NANOG hESC enhancer GRCh37_chr2:120064909-120065410 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11903 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16447 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16448 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16449 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11904 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16450 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16451 Neighboring gene diazepam binding inhibitor, acyl-CoA binding protein Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11905 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:120189865-120190371 Neighboring gene transmembrane protein 37 Neighboring gene secretin receptor Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:120231245-120231796 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:120232347-120232897 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:120238515-120239026 Neighboring gene VISTA enhancer hs1941 Neighboring gene SCTR antisense RNA 1

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. Host determinants of HIV-1 control in African Americans. Pelak K, et al. J Infect Dis, 2010 Apr 15. PMID 20205591, Free PMC Article
  2. TNIP2 is a Hub Protein in the NF-κB Network with Both Protein and RNA Mediated Interactions. Banks CA, et al. Mol Cell Proteomics, 2016 Nov. PMID 27609421, Free PMC Article
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614, Free PMC Article
  4. Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery. Havugimana PC, et al. Nat Commun, 2022 Jul 13. PMID 35831314, Free PMC Article
  5. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article

See all (6) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  2. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
    Title: Host determinants of HIV-1 control in African Americans.
Submit: New GeneRIF Correction

Phenotypes

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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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Markers

Homology

Clone Names

  • MGC104437

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 

General protein information

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Preferred Names
UPF0538 protein C2orf76

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_001017927.4 → NP_001017927.2  UPF0538 protein C2orf76 isoform 1

    See identical proteins and their annotated locations for NP_001017927.2

    Status: VALIDATED

    Source sequence(s)
    AC016736, AW015242, BC047365, BC105805, BC144012
    Consensus CDS
    CCDS42739.1
    UniProtKB/Swiss-Prot
    B7ZLS8, Q3KRA6, Q4VC35
    Related
    ENSP00000387234.1, ENST00000409877.5
    Conserved Domains (1) summary
    pfam10209
    Location:8 → 122
    DUF2340; Uncharacterized conserved protein (DUF2340)

  2. NM_001322329.2 → NP_001309258.1  UPF0538 protein C2orf76 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC016736, BC047365, BC105805, BC126397
    Consensus CDS
    CCDS42739.1
    UniProtKB/Swiss-Prot
    B7ZLS8, Q3KRA6, Q4VC35
    Related
    ENSP00000386302.2, ENST00000409466.6
    Conserved Domains (1) summary
    pfam10209
    Location:8 → 122
    DUF2340; Uncharacterized conserved protein (DUF2340)

  3. NM_001322330.2 → NP_001309259.1  UPF0538 protein C2orf76 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC016736, AW015242, BC047365, BC105805, BC126395
    Consensus CDS
    CCDS42739.1
    UniProtKB/Swiss-Prot
    B7ZLS8, Q3KRA6, Q4VC35
    Related
    ENSP00000386714.1, ENST00000409523.1
    Conserved Domains (1) summary
    pfam10209
    Location:8 → 122
    DUF2340; Uncharacterized conserved protein (DUF2340)

  4. NM_001322331.2 → NP_001309260.1  UPF0538 protein C2orf76 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC016736, AW015242, BC105805
    Consensus CDS
    CCDS42739.1
    UniProtKB/Swiss-Prot
    B7ZLS8, Q3KRA6, Q4VC35
    Related
    ENSP00000335041.7, ENST00000334816.12
    Conserved Domains (1) summary
    pfam10209
    Location:8 → 122
    DUF2340; Uncharacterized conserved protein (DUF2340)

  5. NM_001322332.2 → NP_001309261.1  UPF0538 protein C2orf76 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC016736, AW015242
    Conserved Domains (1) summary
    pfam10209
    Location:8 → 109
    DUF2340; Uncharacterized conserved protein (DUF2340)

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
    119281130..119367151 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017003354.3 → XP_016858843.1  UPF0538 protein C2orf76 isoform X1

RNA

  1. XR_007069611.1 RNA Sequence

  2. XR_007069609.1 RNA Sequence

  3. XR_001738623.3 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    119714590..119800689 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054340529.1 → XP_054196504.1  UPF0538 protein C2orf76 isoform X2

  2. XM_054340531.1 → XP_054196506.1  UPF0538 protein C2orf76 isoform X3

  3. XM_054340532.1 → XP_054196507.1  UPF0538 protein C2orf76 isoform X4

  4. XM_054340530.1 → XP_054196505.1  UPF0538 protein C2orf76 isoform X1

RNA

  1. XR_008486274.1 RNA Sequence

  2. XR_008486273.1 RNA Sequence

  3. XR_008486272.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q3KRA6.3 GenPept UniProtKB/Swiss-Prot:Q3KRA6

Gene LinkOut

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