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C12orf49 chromosome 12 open reading frame 49 [ Homo sapiens (human) ]

Gene ID: 79794, updated on 12-Oct-2019

Summary

Official Symbol
C12orf49provided by HGNC
Official Full Name
chromosome 12 open reading frame 49provided by HGNC
Primary source
HGNC:HGNC:26128
See related
Ensembl:ENSG00000111412
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
Broad expression in thyroid (RPKM 43.0), lung (RPKM 18.5) and 21 other tissues See more
Orthologs

Genomic context

See C12orf49 in Genome Data Viewer
Location:
12q24.22
Exon count:
5
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (116710171..116738069, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (117151289..117175868, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 173 Neighboring gene microtubule associated protein 1 light chain 3 beta 2 Neighboring gene ribosomal protein L21 pseudogene 105 Neighboring gene ring finger protein, transmembrane 2 Neighboring gene RNA, U6 small nuclear 558, pseudogene

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ21415

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
extracellular region IEA
Inferred from Electronic Annotation
more info
 

NCBI Reference Sequences (RefSeq)

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_001353623.2NP_001340552.1  UPF0454 protein C12orf49 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC090013, AC125603, AK309652, BG537618, BQ006142
    Conserved Domains (1) summary
    pfam10218
    Location:60165
    DUF2054; Uncharacterized conserved protein (DUF2054)
  2. NM_001353624.2NP_001340553.1  UPF0454 protein C12orf49 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC090013, AC125603, BQ006142
    Conserved Domains (1) summary
    pfam10218
    Location:3692
    DUF2054; Uncharacterized conserved protein (DUF2054)
  3. NM_001353625.2NP_001340554.1  UPF0454 protein C12orf49 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC090013, AC125603, AK309652, BC019843, BG537618, BQ006142
    Conserved Domains (1) summary
    pfam10218
    Location:3754
    DUF2054; Uncharacterized conserved protein (DUF2054)
  4. NM_024738.4NP_079014.1  UPF0454 protein C12orf49 isoform 1 precursor

    See identical proteins and their annotated locations for NP_079014.1

    Status: VALIDATED

    Source sequence(s)
    AC090013, AC125603, BC019843, BG537618, BQ006142
    Consensus CDS
    CCDS9179.1
    UniProtKB/Swiss-Prot
    Q9H741
    UniProtKB/TrEMBL
    A0A024RBQ8
    Related
    ENSP00000261318.3, ENST00000261318.5
    Conserved Domains (1) summary
    pfam10218
    Location:72195
    DUF2054; Uncharacterized conserved protein (DUF2054)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    116710171..116738069 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024449189.1XP_024304957.1  UPF0454 protein C12orf49 isoform X1

    Conserved Domains (1) summary
    pfam10218
    Location:73196
    DUF2054; Uncharacterized conserved protein (DUF2054)
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