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

Gene ID: 132200, updated on 16-Mar-2024

Summary

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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 AllianceGenome:HGNC:25190
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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Location:
3p14.2-p14.1
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (63779707..63848636)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (63823336..63892263)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (63804975..63834312)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene VISTA enhancer hs1387 Neighboring gene sentan, cilia apical structure protein Neighboring gene uncharacterized LOC105377119 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:63718649-63719284 Neighboring gene cadherin related family member 18, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14497 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14498 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14499 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14500 Neighboring gene THO complex subunit 7 Neighboring gene THOC7 antisense RNA 1 Neighboring gene ataxin 7 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20031 Neighboring gene SCA7/ATXN7 antisense RNA 1

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. Gene network analysis in a pediatric cohort identifies novel lung function genes. Ong BA, et al. PLoS One, 2013. PMID 24023788, Free PMC Article
  2. Circular rapid amplification of cDNA ends for high-throughput extension cloning of partial genes. Fu GK, et al. Genomics, 2004 Jul. PMID 15203218
  3. Biological insights from 108 schizophrenia-associated genetic loci. Schizophrenia Working Group of the Psychiatric Genomics Consortium. Nature, 2014 Jul 24. PMID 25056061, Free PMC Article
  4. 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
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Gerhard DS, et al. Genome Res, 2004 Oct. PMID 15489334, Free PMC Article

See all (6) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci.
EBI GWAS Catalog
Gene network analysis in a pediatric cohort identifies novel lung function genes.
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

  • MGC17310

General protein information

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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_001355236.2 → NP_001342165.1  putative uncharacterized protein C3orf49

    Status: VALIDATED

    Source sequence(s)
    AC104162, BC015210
    Consensus CDS
    CCDS87102.1
    UniProtKB/Swiss-Prot
    Q96BT1
    Related
    ENSP00000295896.8, ENST00000295896.13

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_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    63779707..63848636
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047447470.1 → XP_047303426.1  putative uncharacterized protein C3orf49 isoform X2

  2. XM_024453353.2 → XP_024309121.1  putative uncharacterized protein C3orf49 isoform X1

    UniProtKB/TrEMBL
    A0A2R8Y7G4
    Related
    ENSP00000495997.1, ENST00000647022.1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    63823336..63892263
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054345289.1 → XP_054201264.1  putative uncharacterized protein C3orf49 isoform X2

  2. XM_054345288.1 → XP_054201263.1  putative uncharacterized protein C3orf49 isoform X1

    UniProtKB/TrEMBL
    A0A2R8Y7G4
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96BT1.1 GenPept UniProtKB/Swiss-Prot:Q96BT1

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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