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C2orf50 chromosome 2 open reading frame 50 [ Homo sapiens (human) ]

Gene ID: 130813, updated on 5-Mar-2024

Summary

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Official Symbol
C2orf50provided by HGNC
Official Full Name
chromosome 2 open reading frame 50provided by HGNC
Primary source
HGNC:HGNC:26324
See related
Ensembl:ENSG00000150873 AllianceGenome:HGNC:26324
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
Low expression observed in reference dataset See more
Orthologs
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Genomic context

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See C2orf50 in Genome Data Viewer
Location:
2p25.1
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (11133128..11154576)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (11162478..11183718)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (11273254..11291443)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:11058947-11059850 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:11059851-11060754 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:11075650-11076849 Neighboring gene potassium voltage-gated channel modifier subfamily F member 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:11105924-11106900 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:11108135-11108636 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:11108637-11109136 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15317 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15315 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15316 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:11245073-11245572 Neighboring gene Putative uncharacterized protein FLJ33534 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:11269908-11270408 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:11270409-11270909 Neighboring gene ribosomal protein L6 pseudogene 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:11292424-11292924 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11170 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11171 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:11298670-11298918 Neighboring gene solute carrier family 66 member 3 Neighboring gene Sharpr-MPRA regulatory region 13580 Neighboring gene Rho associated coiled-coil containing protein kinase 2 Neighboring gene RNA, U6 small nuclear 1081, pseudogene

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 monoamine metabolite levels in human cerebrospinal fluid. Luykx JJ, et al. Mol Psychiatry, 2014 Feb. PMID 23319000
  2. A yeast two-hybrid screen reveals that osteopontin associates with MAP1A and MAP1B in addition to other proteins linked to microtubule stability, apoptosis and protein degradation in the human brain. Long P, et al. Eur J Neurosci, 2012 Sep. PMID 22779921
  3. A proteome-scale map of the human interactome network. Rolland T, et al. Cell, 2014 Nov 20. PMID 25416956, Free PMC Article
  4. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article
  5. Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Huttlin EL, et al. Cell, 2021 May 27. PMID 33961781, Free PMC Article

See all (6) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.
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)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ25143, MGC149401

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 

General protein information

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Preferred Names
uncharacterized protein C2orf50

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_001371320.1 → NP_001358249.1  uncharacterized protein C2orf50

    Status: VALIDATED

    Source sequence(s)
    AC018463, AC062028
    Consensus CDS
    CCDS1678.1
    UniProtKB/Swiss-Prot
    A8K9W3, D6W503, Q96LR7
    Conserved Domains (1) summary
    pfam14945
    Location:66 → 130
    LLC1; Normal lung function maintenance, Low in Lung Cancer 1 protein

  2. NM_001371321.1 → NP_001358250.1  uncharacterized protein C2orf50

    Status: VALIDATED

    Source sequence(s)
    AC018463, AC062028
    Consensus CDS
    CCDS1678.1
    UniProtKB/Swiss-Prot
    A8K9W3, D6W503, Q96LR7
    Related
    ENSP00000370997.3, ENST00000381585.8
    Conserved Domains (1) summary
    pfam14945
    Location:66 → 130
    LLC1; Normal lung function maintenance, Low in Lung Cancer 1 protein

  3. NM_182500.4 → NP_872306.1  uncharacterized protein C2orf50

    See identical proteins and their annotated locations for NP_872306.1

    Status: VALIDATED

    Source sequence(s)
    AC018463, AC062028
    Consensus CDS
    CCDS1678.1
    UniProtKB/Swiss-Prot
    A8K9W3, D6W503, Q96LR7
    Related
    ENSP00000384186.3, ENST00000405022.3
    Conserved Domains (1) summary
    pfam14945
    Location:66 → 130
    LLC1; Normal lung function maintenance, Low in Lung Cancer 1 protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    11133128..11154576
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006711857.3 → XP_006711920.1  uncharacterized protein C2orf50 isoform X1

    See identical proteins and their annotated locations for XP_006711920.1

    UniProtKB/Swiss-Prot
    A8K9W3, D6W503, Q96LR7
    Conserved Domains (1) summary
    pfam14945
    Location:66 → 130
    LLC1; Normal lung function maintenance, Low in Lung Cancer 1 protein

  2. XM_006711858.3 → XP_006711921.1  uncharacterized protein C2orf50 isoform X1

    See identical proteins and their annotated locations for XP_006711921.1

    UniProtKB/Swiss-Prot
    A8K9W3, D6W503, Q96LR7
    Conserved Domains (1) summary
    pfam14945
    Location:66 → 130
    LLC1; Normal lung function maintenance, Low in Lung Cancer 1 protein

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    11162478..11183718
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054340590.1 → XP_054196565.1  uncharacterized protein C2orf50 isoform X1

    UniProtKB/Swiss-Prot
    A8K9W3, D6W503, Q96LR7
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96LR7.1 GenPept UniProtKB/Swiss-Prot:Q96LR7

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