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    C2orf74 chromosome 2 open reading frame 74 [ Homo sapiens (human) ]

    Gene ID: 339804, updated on 2-Nov-2024

    Summary

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    Official Symbol
    C2orf74provided by HGNC
    Official Full Name
    chromosome 2 open reading frame 74provided by HGNC
    Primary source
    HGNC:HGNC:34439
    See related
    Ensembl:ENSG00000237651 AllianceGenome:HGNC:34439
    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
    Predicted to be located in membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 14.9), brain (RPKM 12.6) and 25 other tissues See more
    Orthologs
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    Genomic context

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    See C2orf74 in Genome Data Viewer
    Location:
    2p15
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (61145116..61164828)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (61150976..61170676)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (61372251..61391963)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene SANT and BTB domain regulator of CSR Neighboring gene uncharacterized LOC105374759 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:61371323-61372244 Neighboring gene C2orf74 divergent transcript Neighboring gene C2orf74 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:61395441-61395942 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11525 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:61407627-61408205 Neighboring gene activator of HSP90 ATPase homolog 2, pseudogene Neighboring gene ubiquitin specific peptidase 34 Neighboring gene Sharpr-MPRA regulatory region 13579 Neighboring gene BNIP3 pseudogene 45

    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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Frameshift variant in MITF gene in a large family with Waardenburg syndrome type II and a co-segregation of a C2orf74 variant.
      Title: Frameshift variant in MITF gene in a large family with Waardenburg syndrome type II and a co-segregation of a C2orf74 variant.
    Submit: New GeneRIF Correction

    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 scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.
    EBI GWAS Catalog
    Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
    EBI GWAS Catalog
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Potential readthrough

    Included genes: PEX13, SANBR

    Homology

    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 membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    uncharacterized protein C2orf74

    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_001143959.4 → NP_001137431.2  uncharacterized protein C2orf74 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC016747
      Consensus CDS
      CCDS46297.1
      UniProtKB/Swiss-Prot
      A8MZ97, C9JP62
      UniProtKB/TrEMBL
      A0A087X1C3
      Related
      ENSP00000402915.2, ENST00000432605.3
      Conserved Domains (1) summary
      pfam15484
      Location:32 → 187
      DUF4642; Domain of unknown function (DUF4642)

    2. NM_001143960.3 → NP_001137432.1  uncharacterized protein C2orf74 isoform 2

      See identical proteins and their annotated locations for NP_001137432.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) represents use of an alternate promoter, differs in the 5' UTR, and uses a downstream start codon, compared to variant 1. The resulting isoform (2) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC016747
      Consensus CDS
      CCDS46298.1
      UniProtKB/TrEMBL
      C9JBF1
      Related
      ENSP00000398725.1, ENST00000426997.5
      Conserved Domains (1) summary
      pfam15484
      Location:1 → 115
      DUF4642; Domain of unknown function (DUF4642)

    3. NM_001316317.2 → NP_001303246.1  uncharacterized protein C2orf74 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) represents use of an alternate promoter, differs in the 5' UTR, and uses a downstream start codon, compared to variant 1. The resulting isoform (2) has a shorter N-terminus, compared to isoform 1. Both variants 2 and 3 encode the same protein (isoform 2).
      Source sequence(s)
      AC016747, BP422302
      Consensus CDS
      CCDS46298.1
      UniProtKB/TrEMBL
      C9JBF1
      Related
      ENSP00000482798.1, ENST00000464909.2
      Conserved Domains (1) summary
      pfam15484
      Location:1 → 115
      DUF4642; Domain of unknown function (DUF4642)

    4. NM_001367069.1 → NP_001353998.1  uncharacterized protein C2orf74 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC016747
      Consensus CDS
      CCDS46298.1
      UniProtKB/TrEMBL
      C9JBF1
      Conserved Domains (1) summary
      pfam15484
      Location:1 → 115
      DUF4642; Domain of unknown function (DUF4642)

    5. NM_001367070.1 → NP_001353999.1  uncharacterized protein C2orf74 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC016747
      Consensus CDS
      CCDS46298.1
      UniProtKB/TrEMBL
      C9JBF1
      Conserved Domains (1) summary
      pfam15484
      Location:1 → 115
      DUF4642; Domain of unknown function (DUF4642)

    6. NM_001367071.1 → NP_001354000.1  uncharacterized protein C2orf74 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC016747
      Consensus CDS
      CCDS46298.1
      UniProtKB/TrEMBL
      C9JBF1
      Conserved Domains (1) summary
      pfam15484
      Location:1 → 115
      DUF4642; Domain of unknown function (DUF4642)

    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
      61145116..61164828
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      61150976..61170676
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A8MZ97.4 GenPept UniProtKB/Swiss-Prot:A8MZ97

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