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    C17orf78 chromosome 17 open reading frame 78 [ Homo sapiens (human) ]

    Gene ID: 284099, updated on 10-Dec-2024

    Summary

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    Official Symbol
    C17orf78provided by HGNC
    Official Full Name
    chromosome 17 open reading frame 78provided by HGNC
    Primary source
    HGNC:HGNC:26831
    See related
    Ensembl:ENSG00000278505 AllianceGenome:HGNC:26831
    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, Dec 2024]
    Expression
    Biased expression in duodenum (RPKM 77.3) and small intestine (RPKM 37.2) See more
    Orthologs
    mouse all
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    Genomic context

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    See C17orf78 in Genome Data Viewer
    Location:
    17q12
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (37375985..37392708)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (38362990..38379729)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (35732927..35749662)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene acetyl-CoA carboxylase alpha Neighboring gene ribosomal protein L18a pseudogene 12 Neighboring gene small nucleolar RNA, H/ACA box 90 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:35712269-35712768 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:35768105-35768789 Neighboring gene transcriptional adaptor 2A Neighboring gene NANOG hESC enhancer GRCh37_chr17:35814497-35815074 Neighboring gene ribosomal protein L24 pseudogene Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr17:35815591-35816092 Neighboring gene MPRA-validated peak2830 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:35843239-35843740 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:35851097-35851882 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:35867118-35867618 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:35867619-35868119 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:35872759-35873272 Neighboring gene dual specificity phosphatase 14

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Genome-wide association study of celiac disease in North America confirms FRMD4B as new celiac locus. Garner C, et al. PLoS One, 2014. PMID 24999842, Free PMC Article
    2. GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer. Pharoah PD, et al. Nat Genet, 2013 Apr. PMID 23535730, Free PMC Article
    3. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. Lamesch P, et al. Genomics, 2007 Mar. PMID 17207965, Free PMC Article
    4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. Bailey SD, et al. Diabetes Care, 2010 Oct. PMID 20628086, Free PMC Article
    5. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. Talmud PJ, et al. Am J Hum Genet, 2009 Nov. PMID 19913121, Free PMC Article

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    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
    Genome-wide association study of celiac disease in North America confirms FRMD4B as new celiac locus.
    EBI GWAS Catalog
    GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer.
    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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    Homology

    Clone Names

    • FLJ39647, MGC34759

    Gene Ontology Provided by GOA

    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 C17orf78

    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_001321399.2 → NP_001308328.1  uncharacterized protein C17orf78 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC243654, AK096966, BC034672
      Consensus CDS
      CCDS82110.1
      UniProtKB/Swiss-Prot
      Q8N4C9
      Related
      ENSP00000477816.1, ENST00000611038.4
      Conserved Domains (1) summary
      pfam15829
      Location:1 → 134
      DUF4711; Domain of unknown function (DUF4711)

    2. NM_173625.5 → NP_775896.3  uncharacterized protein C17orf78 isoform 1

      See identical proteins and their annotated locations for NP_775896.3

      Status: VALIDATED

      Source sequence(s)
      AC243654, AK096966, BC034672, EG328593
      Consensus CDS
      CCDS45655.1
      UniProtKB/Swiss-Prot
      Q8N4C9, Q8N8D2
      Related
      ENSP00000478886.1, ENST00000615133.2
      Conserved Domains (1) summary
      pfam15829
      Location:1 → 211
      DUF4711; Domain of unknown function (DUF4711)

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      37375985..37392708
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011524648.4 → XP_011522950.1  uncharacterized protein C17orf78 isoform X2

      See identical proteins and their annotated locations for XP_011522950.1

      Conserved Domains (1) summary
      pfam15829
      Location:1 → 172
      DUF4711; Domain of unknown function (DUF4711)

    2. XM_011524647.4 → XP_011522949.1  uncharacterized protein C17orf78 isoform X1

      See identical proteins and their annotated locations for XP_011522949.1

      Conserved Domains (1) summary
      pfam15829
      Location:1 → 182
      DUF4711; Domain of unknown function (DUF4711)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187614.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      1611992..1628727
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054329282.1 → XP_054185257.1  uncharacterized protein C17orf78 isoform X2

    2. XM_054329281.1 → XP_054185256.1  uncharacterized protein C17orf78 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      38362990..38379729
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054315791.1 → XP_054171766.1  uncharacterized protein C17orf78 isoform X2

    2. XM_054315790.1 → XP_054171765.1  uncharacterized protein C17orf78 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N4C9.2 GenPept UniProtKB/Swiss-Prot:Q8N4C9

    Gene LinkOut

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

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