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C4orf17 chromosome 4 open reading frame 17 [ Homo sapiens (human) ]

Gene ID: 84103, updated on 12-Oct-2019

Summary

Official Symbol
C4orf17provided by HGNC
Official Full Name
chromosome 4 open reading frame 17provided by HGNC
Primary source
HGNC:HGNC:25274
See related
Ensembl:ENSG00000138813
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
Restricted expression toward testis (RPKM 11.7) See more
Orthologs

Genomic context

See C4orf17 in Genome Data Viewer
Location:
4q23
Exon count:
9
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (99511004..99542303)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (100432161..100463460)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102723576 Neighboring gene D-E enhancer region downstream of ADH7 Neighboring gene ADH7 promoter Neighboring gene alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide Neighboring gene tRNA methyltransferase 10A Neighboring gene microsomal triglyceride transfer protein

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

NHGRI GWAS Catalog

Description
A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease.
NHGRI GWA Catalog
Genetic variants associated with disordered eating.
NHGRI GWA Catalog
Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp434G072

General protein information

Preferred Names
uncharacterized protein C4orf17

NCBI Reference Sequences (RefSeq)

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_032149.3NP_115525.2  uncharacterized protein C4orf17

    See identical proteins and their annotated locations for NP_115525.2

    Status: VALIDATED

    Source sequence(s)
    AK223345, AL136838
    Consensus CDS
    CCDS3649.1
    UniProtKB/Swiss-Prot
    Q53FE4
    Related
    ENSP00000322582.4, ENST00000326581.9
    Conserved Domains (1) summary
    pfam15256
    Location:27222
    SPATIAL; SPATIAL

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    99511004..99542303
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011532315.2XP_011530617.1  uncharacterized protein C4orf17 isoform X1

    Related
    ENSP00000423411.1, ENST00000477187.1
    Conserved Domains (1) summary
    pfam15256
    Location:27182
    SPATIAL; SPATIAL
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