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C12orf56 chromosome 12 open reading frame 56 [ Homo sapiens (human) ]

Gene ID: 115749, updated on 1-Jun-2020

Summary

Official Symbol
C12orf56provided by HGNC
Official Full Name
chromosome 12 open reading frame 56provided by HGNC
Primary source
HGNC:HGNC:26967
See related
Ensembl:ENSG00000185306
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
Biased expression in testis (RPKM 3.2), placenta (RPKM 0.3) and 2 other tissues See more
Orthologs

Genomic context

See C12orf56 in Genome Data Viewer
Location:
12q14.2
Exon count:
15
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (64264762..64390758, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (64660763..64784345, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene chromosome 12 open reading frame 66 Neighboring gene RNA, U6 small nuclear 1009, pseudogene Neighboring gene RNA, U5A small nuclear 7, pseudogene Neighboring gene ATPase H+ transporting V1 subunit E1 pseudogene 3 Neighboring gene ribosomal protein S11 pseudogene 6 Neighboring gene exportin for tRNA Neighboring gene mitochondrial ribosomal protein S25 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

Phenotypes

NHGRI GWAS Catalog

Description
Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

General protein information

Preferred Names
uncharacterized protein C12orf56

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_001099676.3NP_001093146.1  uncharacterized protein C12orf56 isoform 2

    See identical proteins and their annotated locations for NP_001093146.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks two alternate in-frame exons in the central coding region, compared to variant 1. The resulting isoform (2) lacks an internal segment, compared to isoform 1.
    Source sequence(s)
    AC012158, AC135279, BC014352, BC039369, BX089271
    Consensus CDS
    CCDS44935.1
    UniProtKB/Swiss-Prot
    Q8IXR9
    Related
    ENSP00000329698.5, ENST00000333722.9
    Conserved Domains (1) summary
    pfam15087
    Location:12459
    DUF4551; Protein of unknown function (DUF4551)
  2. NM_001170633.2NP_001164104.1  uncharacterized protein C12orf56 isoform 1

    See identical proteins and their annotated locations for NP_001164104.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC012158, AC135279
    Consensus CDS
    CCDS61182.1
    UniProtKB/Swiss-Prot
    Q8IXR9
    Related
    ENSP00000446101.2, ENST00000543942.7
    Conserved Domains (1) summary
    pfam15087
    Location:12619
    DUF4551; Protein of unknown function (DUF4551)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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
    64264762..64390758 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024448831.1XP_024304599.1  uncharacterized protein C12orf56 isoform X2

    Conserved Domains (1) summary
    pfam15087
    Location:12437
    DUF4551; Protein of unknown function (DUF4551)
  2. XM_024448830.1XP_024304598.1  uncharacterized protein C12orf56 isoform X1

    Conserved Domains (1) summary
    pfam15087
    Location:12506
    DUF4551; Protein of unknown function (DUF4551)
  3. XM_017018770.1XP_016874259.1  uncharacterized protein C12orf56 isoform X3

RNA

  1. XR_944486.2 RNA Sequence

  2. XR_944485.2 RNA Sequence

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