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C2orf42 chromosome 2 open reading frame 42 [ Homo sapiens (human) ]

Gene ID: 54980, updated on 5-Aug-2022

Summary

Official Symbol
C2orf42provided by HGNC
Official Full Name
chromosome 2 open reading frame 42provided by HGNC
Primary source
HGNC:HGNC:26056
See related
Ensembl:ENSG00000115998 AllianceGenome:HGNC:26056
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 nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in testis (RPKM 23.4), lymph node (RPKM 3.5) and 21 other tissues See more
Orthologs
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Genomic context

See C2orf42 in Genome Data Viewer
Location:
2p13.3
Exon count:
11
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (70149885..70191019, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (70161627..70202761, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (70377017..70418151, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 12614 Neighboring gene Sharpr-MPRA regulatory region 4230 Neighboring gene TIA1 cytotoxic granule associated RNA binding protein Neighboring gene tRNA-Gly (anticodon CCC) 2-1

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 identifies three novel susceptibility loci for severe Acne vulgaris.
EBI GWAS Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Clone Names

  • FLJ20558

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
uncharacterized protein C2orf42

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_001348758.2NP_001335687.1  uncharacterized protein C2orf42

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1-8 all encode the same protein.
    Source sequence(s)
    AC016700
    Consensus CDS
    CCDS1899.1
    UniProtKB/Swiss-Prot
    Q9H629, Q9NWW7
    Conserved Domains (1) summary
    pfam14952
    Location:1657
    zf-tcix; Putative treble-clef, zinc-finger, Zn-binding
  2. NM_001348759.2NP_001335688.1  uncharacterized protein C2orf42

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1-8 all encode the same protein.
    Source sequence(s)
    AC016700
    Consensus CDS
    CCDS1899.1
    UniProtKB/Swiss-Prot
    Q9H629, Q9NWW7
    Conserved Domains (1) summary
    pfam14952
    Location:1657
    zf-tcix; Putative treble-clef, zinc-finger, Zn-binding
  3. NM_001348760.2NP_001335689.1  uncharacterized protein C2orf42

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1-8 all encode the same protein.
    Source sequence(s)
    AC016700
    Consensus CDS
    CCDS1899.1
    UniProtKB/Swiss-Prot
    Q9H629, Q9NWW7
    Conserved Domains (1) summary
    pfam14952
    Location:1657
    zf-tcix; Putative treble-clef, zinc-finger, Zn-binding
  4. NM_001348761.2NP_001335690.1  uncharacterized protein C2orf42

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. Variants 1-8 all encode the same protein.
    Source sequence(s)
    AC016700
    Consensus CDS
    CCDS1899.1
    UniProtKB/Swiss-Prot
    Q9H629, Q9NWW7
    Conserved Domains (1) summary
    pfam14952
    Location:1657
    zf-tcix; Putative treble-clef, zinc-finger, Zn-binding
  5. NM_001348762.2NP_001335691.1  uncharacterized protein C2orf42

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR compared to variant 1. Variants 1-8 all encode the same protein.
    Source sequence(s)
    AC016700
    Consensus CDS
    CCDS1899.1
    UniProtKB/Swiss-Prot
    Q9H629, Q9NWW7
    Related
    ENSP00000404515.1, ENST00000420306.1
    Conserved Domains (1) summary
    pfam14952
    Location:1657
    zf-tcix; Putative treble-clef, zinc-finger, Zn-binding
  6. NM_001348763.2NP_001335692.1  uncharacterized protein C2orf42

    Status: VALIDATED

    Description
    Transcript Variant: This variant (7) differs in the 5' UTR compared to variant 1. Variants 1-8 all encode the same protein.
    Source sequence(s)
    AC016700
    Consensus CDS
    CCDS1899.1
    UniProtKB/Swiss-Prot
    Q9H629, Q9NWW7
    Conserved Domains (1) summary
    pfam14952
    Location:1657
    zf-tcix; Putative treble-clef, zinc-finger, Zn-binding
  7. NM_001348764.2NP_001335693.1  uncharacterized protein C2orf42

    Status: VALIDATED

    Description
    Transcript Variant: This variant (8) differs in the 5' UTR compared to variant 1. Variants 1-8 all encode the same protein.
    Source sequence(s)
    AC016700
    Consensus CDS
    CCDS1899.1
    UniProtKB/Swiss-Prot
    Q9H629, Q9NWW7
    Conserved Domains (1) summary
    pfam14952
    Location:1657
    zf-tcix; Putative treble-clef, zinc-finger, Zn-binding
  8. NM_017880.3NP_060350.1  uncharacterized protein C2orf42

    See identical proteins and their annotated locations for NP_060350.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1-8 all encode the same protein.
    Source sequence(s)
    AK000565
    Consensus CDS
    CCDS1899.1
    UniProtKB/Swiss-Prot
    Q9H629, Q9NWW7
    Related
    ENSP00000264434.2, ENST00000264434.7
    Conserved Domains (1) summary
    pfam14952
    Location:1657
    zf-tcix; Putative treble-clef, zinc-finger, Zn-binding

RNA

  1. NR_145967.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC016700
  2. NR_145968.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC016700
  3. NR_145969.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC016700
  4. NR_145970.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC016700
  5. NR_145971.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC016700
  6. NR_145972.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC016700

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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
    70149885..70191019 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047444838.1XP_047300794.1  uncharacterized protein C2orf42 isoform X1

    UniProtKB/Swiss-Prot
    Q9H629

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    70161627..70202761 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)