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

Gene ID: 339804, updated on 5-Mar-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 integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
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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Location:
2p15
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (61145116..61164828)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (61150976..61170676)
105.20220307 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
  • 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. Frameshift variant in MITF gene in a large family with Waardenburg syndrome type II and a co-segregation of a C2orf74 variant. Albarry MA, et al. PLoS One, 2021. PMID 33571247, Free PMC Article
  2. A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci. Kenny EE, et al. PLoS Genet, 2012. PMID 22412388, Free PMC Article
  3. Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. Franke A, et al. Nat Genet, 2010 Dec. PMID 21102463, Free PMC Article
  4. Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. Jostins L, et al. Nature, 2012 Nov 1. PMID 23128233, Free PMC Article
  5. Toward an understanding of the protein interaction network of the human liver. Wang J, et al. Mol Syst Biol, 2011 Oct 11. PMID 21988832, Free PMC Article

See all (7) citations in PubMed

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)

Genotypes

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_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
    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

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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