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C9orf50 chromosome 9 open reading frame 50 [ Homo sapiens (human) ]

Gene ID: 375759, updated on 13-May-2022

Summary

Official Symbol
C9orf50provided by HGNC
Official Full Name
chromosome 9 open reading frame 50provided by HGNC
Primary source
HGNC:HGNC:23677
See related
Ensembl:ENSG00000179058 AllianceGenome:HGNC:23677
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
Biased expression in testis (RPKM 1.6), brain (RPKM 0.2) and 1 other tissue See more
Orthologs
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Genomic context

See C9orf50 in Genome Data Viewer
Location:
9q34.11
Exon count:
9
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (129612225..129621924, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (141816825..141825700, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (132374504..132383380, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 9056 Neighboring gene uncharacterized LOC105376292 Neighboring gene N-terminal Xaa-Pro-Lys N-methyltransferase 1 Neighboring gene ankyrin repeat and SOCS box containing 6 Neighboring gene paired related homeobox 2 Neighboring gene PRRX2 antisense RNA 1

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
Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.
EBI GWAS Catalog
Pharmacogenomic study of side-effects for antidepressant treatment options in STAR*D.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ35803

General protein information

Preferred Names
uncharacterized protein C9orf50

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_199350.4NP_955382.3  uncharacterized protein C9orf50

    See identical proteins and their annotated locations for NP_955382.3

    Status: VALIDATED

    Source sequence(s)
    AL391056, AL590369
    Consensus CDS
    CCDS35159.1
    UniProtKB/Swiss-Prot
    Q5SZB4
    Related
    ENSP00000361556.4, ENST00000372478.4
    Conserved Domains (1) summary
    pfam15737
    Location:193301
    DUF4685; Domain of unknown function (DUF4685)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    129612225..129621924 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011518656.2XP_011516958.1  uncharacterized protein C9orf50 isoform X1

    See identical proteins and their annotated locations for XP_011516958.1

    UniProtKB/Swiss-Prot
    Q5SZB4
    Conserved Domains (1) summary
    pfam15737
    Location:193301
    DUF4685; Domain of unknown function (DUF4685)
  2. XM_011518655.2XP_011516957.1  uncharacterized protein C9orf50 isoform X1

    See identical proteins and their annotated locations for XP_011516957.1

    UniProtKB/Swiss-Prot
    Q5SZB4
    Conserved Domains (1) summary
    pfam15737
    Location:193301
    DUF4685; Domain of unknown function (DUF4685)
  3. XM_011518658.3XP_011516960.2  uncharacterized protein C9orf50 isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    141816825..141825700 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)