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

Gene ID: 284099, updated on 2-Nov-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, Nov 2024]
Expression
Biased expression in duodenum (RPKM 77.3) and small intestine (RPKM 37.2) See more
Orthologs
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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: 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. 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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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

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