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C3orf49 chromosome 3 open reading frame 49 [ Homo sapiens (human) ]

Gene ID: 132200, updated on 23-Nov-2021

Summary

Official Symbol
C3orf49provided by HGNC
Official Full Name
chromosome 3 open reading frame 49provided by HGNC
Primary source
HGNC:HGNC:25190
See related
Ensembl:ENSG00000163632
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 C3orf49 in Genome Data Viewer
Location:
3p14.1
Exon count:
7
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (63816946..63848636)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (63804975..63834312)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377119 Neighboring gene cadherin-related family member 3-like Neighboring gene THO complex 7 Neighboring gene THOC7 antisense RNA 1 Neighboring gene ataxin 7 Neighboring gene SCA7/ATXN7 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

Associated conditions

Description Tests
Biological insights from 108 schizophrenia-associated genetic loci.
GeneReviews: Not available
Gene network analysis in a pediatric cohort identifies novel lung function genes.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General protein information

Preferred Names
putative uncharacterized protein C3orf49

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_001355236.2NP_001342165.1  putative uncharacterized protein C3orf49

    Status: VALIDATED

    Source sequence(s)
    AC104162, BC015210
    Consensus CDS
    CCDS87102.1
    Related
    ENSP00000295896.8, ENST00000295896.13

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    63816946..63848636
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024453353.1XP_024309121.1  putative uncharacterized protein C3orf49 isoform X1

    Related
    ENSP00000495997.1, ENST00000647022.1
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