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

Gene ID: 130813, updated on 26-Oct-2022

Summary

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

See C2orf50 in Genome Data Viewer
Location:
2p25.1
Exon count:
4
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (11133128..11154576)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (11165528..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 potassium voltage-gated channel modifier subfamily F member 1 Neighboring gene Putative uncharacterized protein FLJ33534 Neighboring gene ribosomal protein L6 pseudogene 4 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

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 monoamine metabolite levels in human cerebrospinal fluid.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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

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_001371320.1NP_001358249.1  uncharacterized protein C2orf50

    Status: VALIDATED

    Source sequence(s)
    AC018463, AC062028
    Consensus CDS
    CCDS1678.1
    UniProtKB/Swiss-Prot
    D6W503
    Conserved Domains (1) summary
    pfam14945
    Location:66130
    LLC1; Normal lung function maintenance, Low in Lung Cancer 1 protein
  2. NM_001371321.1NP_001358250.1  uncharacterized protein C2orf50

    Status: VALIDATED

    Source sequence(s)
    AC018463, AC062028
    Consensus CDS
    CCDS1678.1
    UniProtKB/Swiss-Prot
    D6W503
    Related
    ENSP00000370997.3, ENST00000381585.8
    Conserved Domains (1) summary
    pfam14945
    Location:66130
    LLC1; Normal lung function maintenance, Low in Lung Cancer 1 protein
  3. NM_182500.4NP_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
    D6W503, Q96LR7
    Related
    ENSP00000384186.3, ENST00000405022.3
    Conserved Domains (1) summary
    pfam14945
    Location:66130
    LLC1; Normal lung function maintenance, Low in Lung Cancer 1 protein

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_000002.12 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for XP_006711920.1

    UniProtKB/Swiss-Prot
    D6W503, Q96LR7
    Conserved Domains (1) summary
    pfam14945
    Location:66130
    LLC1; Normal lung function maintenance, Low in Lung Cancer 1 protein
  2. XM_006711858.3XP_006711921.1  uncharacterized protein C2orf50 isoform X1

    See identical proteins and their annotated locations for XP_006711921.1

    UniProtKB/Swiss-Prot
    D6W503, Q96LR7
    Conserved Domains (1) summary
    pfam14945
    Location:66130
    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
    11165528..11183718
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)