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C17orf67 chromosome 17 open reading frame 67 [ Homo sapiens (human) ]

Gene ID: 339210, updated on 27-Nov-2024

Summary

Official Symbol
C17orf67provided by HGNC
Official Full Name
chromosome 17 open reading frame 67provided by HGNC
Primary source
HGNC:HGNC:27900
See related
Ensembl:ENSG00000214226 AllianceGenome:HGNC:27900
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 extracellular region. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in spleen (RPKM 1.1), endometrium (RPKM 0.9) and 25 other tissues See more
Orthologs
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Genomic context

See C17orf67 in Genome Data Viewer
Location:
17q22
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (56791913..56833920, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (57668072..57711152, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (54869274..54911281, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein L39 pseudogene 33 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8738 Neighboring gene MPRA-validated peak2904 silencer Neighboring gene noggin Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:54715538-54716038 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:54716039-54716539 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:54776085-54777284 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8739 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:54863850-54865049 Neighboring gene Sharpr-MPRA regulatory region 13836 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:54911171-54911768 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:54912368-54912965 Neighboring gene uncharacterized LOC124904036 Neighboring gene NANOG hESC enhancer GRCh37_chr17:54914856-54915411 Neighboring gene uncharacterized LOC124904037 Neighboring gene diacylglycerol kinase epsilon Neighboring gene RNA, U6 small nuclear 1158, pseudogene

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

EBI GWAS Catalog

Description
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General protein information

Preferred Names
uncharacterized protein C17orf67

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.

Genomic

  1. NG_054932.1 RefSeqGene

    Range
    5071..47078
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001085430.4NP_001078899.2  uncharacterized protein C17orf67 precursor

    See identical proteins and their annotated locations for NP_001078899.2

    Status: VALIDATED

    Source sequence(s)
    AC106858, BC041467, BU075516
    Consensus CDS
    CCDS42364.2
    UniProtKB/Swiss-Prot
    Q0P5P2
    Related
    ENSP00000380959.2, ENST00000397861.7
    Conserved Domains (1) summary
    pfam15076
    Location:1790
    DUF4543; Domain of unknown function (DUF4543)

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
    56791913..56833920 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    57668072..57711152 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)