U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 132200, updated on 12-Aug-2022

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 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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See C3orf49 in Genome Data Viewer
Location:
3p14.1
Exon count:
9
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (63779707..63848636)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (63862924..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 uncharacterized LOC105377119 Neighboring gene cadherin related family member 18, pseudogene Neighboring gene THO complex subunit 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

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General protein information

Preferred Names
putative uncharacterized protein C3orf49

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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
    UniProtKB/Swiss-Prot
    Q96BT1
    Related
    ENSP00000295896.8, ENST00000295896.13

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_000003.12 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

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

  2. XM_024453353.2XP_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
    63862924..63892263
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)