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

Gene ID: 339804, updated on 2-Aug-2021

Summary

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
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
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

See C2orf74 in Genome Data Viewer
Location:
2p15
Exon count:
8
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (61145116..61164828)
105.20201022 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 uncharacterized LOC105374758 Neighboring gene uncharacterized LOC339803 Neighboring gene activator of HSP90 ATPase homolog 2, pseudogene Neighboring gene ubiquitin specific peptidase 34 Neighboring gene small nucleolar RNA, H/ACA box 70B

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

Associated conditions

Description Tests
A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.
GeneReviews: Not available
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
GeneReviews: Not available
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

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_001143959.4NP_001137431.2  uncharacterized protein C2orf74 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC016747
    Related
    ENSP00000402915.2, ENST00000432605.3
    Conserved Domains (1) summary
    pfam15484
    Location:32187
    DUF4642; Domain of unknown function (DUF4642)
  2. NM_001143960.3NP_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:1115
    DUF4642; Domain of unknown function (DUF4642)
  3. NM_001316317.2NP_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:1115
    DUF4642; Domain of unknown function (DUF4642)
  4. NM_001367069.1NP_001353998.1  uncharacterized protein C2orf74 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC016747
    Conserved Domains (1) summary
    pfam15484
    Location:1115
    DUF4642; Domain of unknown function (DUF4642)
  5. NM_001367070.1NP_001353999.1  uncharacterized protein C2orf74 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC016747
    Conserved Domains (1) summary
    pfam15484
    Location:1115
    DUF4642; Domain of unknown function (DUF4642)
  6. NM_001367071.1NP_001354000.1  uncharacterized protein C2orf74 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC016747
    Conserved Domains (1) summary
    pfam15484
    Location:1115
    DUF4642; Domain of unknown function (DUF4642)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

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