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

Gene ID: 284099, updated on 25-Jan-2022

Summary

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 integral component of membrane. [provided by Alliance of Genome Resources, Nov 2021]
Expression
Biased expression in duodenum (RPKM 77.3) and small intestine (RPKM 37.2) See more
Orthologs
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Genomic context

See C17orf78 in Genome Data Viewer
Location:
17q12
Exon count:
7
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (37375332..37392708)
105.20201022 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 transcriptional adaptor 2A Neighboring gene ribosomal protein L24 pseudogene Neighboring gene dual specificity phosphatase 14

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Clone Names

  • FLJ39647, MGC34759

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

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_001321399.2NP_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:1134
    DUF4711; Domain of unknown function (DUF4711)
  2. NM_173625.5NP_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
    Related
    ENSP00000478886.1, ENST00000615133.2
    Conserved Domains (1) summary
    pfam15829
    Location:1211
    DUF4711; Domain of unknown function (DUF4711)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    37375332..37392708
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011524648.3XP_011522950.1  uncharacterized protein C17orf78 isoform X2

    See identical proteins and their annotated locations for XP_011522950.1

    Conserved Domains (1) summary
    pfam15829
    Location:1172
    DUF4711; Domain of unknown function (DUF4711)
  2. XM_011524647.3XP_011522949.1  uncharacterized protein C17orf78 isoform X1

    See identical proteins and their annotated locations for XP_011522949.1

    Conserved Domains (1) summary
    pfam15829
    Location:1182
    DUF4711; Domain of unknown function (DUF4711)
  3. XM_011524649.3XP_011522951.1  uncharacterized protein C17orf78 isoform X3

    See identical proteins and their annotated locations for XP_011522951.1

    Conserved Domains (1) summary
    pfam15829
    Location:1169
    DUF4711; Domain of unknown function (DUF4711)

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_187614.1 Reference GRCh38.p13 ALT_REF_LOCI_1

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