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C12orf54 chromosome 12 open reading frame 54 [ Homo sapiens (human) ]

Gene ID: 121273, updated on 5-Mar-2024

Summary

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Official Symbol
C12orf54provided by HGNC
Official Full Name
chromosome 12 open reading frame 54provided by HGNC
Primary source
HGNC:HGNC:28553
See related
Ensembl:ENSG00000177627 AllianceGenome:HGNC:28553
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
Also known as
HSD-29; HSD-30
Expression
Restricted expression toward testis (RPKM 8.9) See more
Orthologs
all
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Genomic context

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Location:
12q13.11
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (48413154..48496524)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (48374469..48458370)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (48876281..48890307)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene olfactory receptor family 5 subfamily BT member 1 pseudogene Neighboring gene olfactory receptor family 5 subfamily BJ member 1 pseudogene Neighboring gene olfactory receptor family 8 subfamily S member 21 pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr12:48840985-48841189 Neighboring gene olfactory receptor family 8 subfamily T member 1 pseudogene Neighboring gene acidic nuclear phosphoprotein 32 family member D Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6284 Neighboring gene ribosomal protein S10 pseudogene 20 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr12:48893480-48894134 Neighboring gene MPRA-validated peak1721 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4408 Neighboring gene olfactory receptor family 8 subfamily S member 1 Neighboring gene olfactory receptor family 5 subfamily BS member 1 pseudogene

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. 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
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

GeneRIFs: Gene References Into Functions

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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

General gene information

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Markers

Homology

Clone Names

  • MGC35033

General protein information

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Preferred Names
uncharacterized protein C12orf54

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_152319.4 → NP_689532.1  uncharacterized protein C12orf54

    See identical proteins and their annotated locations for NP_689532.1

    Status: VALIDATED

    Source sequence(s)
    AC089987, BC031670, BF510008, BQ429029
    Consensus CDS
    CCDS8764.1
    UniProtKB/Swiss-Prot
    Q6X4S9, Q6X4T0, Q8N5S2
    Related
    ENSP00000447109.1, ENST00000548364.7
    Conserved Domains (1) summary
    pfam15732
    Location:1 → 127
    DUF4681; Domain of unknown function (DUF4681)

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_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    48413154..48496524
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017018796.2 → XP_016874285.1  uncharacterized protein C12orf54 isoform X1

  2. XM_011537896.3 → XP_011536198.1  uncharacterized protein C12orf54 isoform X2

    See identical proteins and their annotated locations for XP_011536198.1

    Conserved Domains (1) summary
    pfam15732
    Location:1 → 99
    DUF4681; Domain of unknown function (DUF4681)

  3. XM_005268636.4 → XP_005268693.1  uncharacterized protein C12orf54 isoform X2

    See identical proteins and their annotated locations for XP_005268693.1

    Conserved Domains (1) summary
    pfam15732
    Location:1 → 99
    DUF4681; Domain of unknown function (DUF4681)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    48374469..48458370
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054371069.1 → XP_054227044.1  uncharacterized protein C12orf54 isoform X1

  2. XM_054371070.1 → XP_054227045.1  uncharacterized protein C12orf54 isoform X2

  3. XM_054371071.1 → XP_054227046.1  uncharacterized protein C12orf54 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6X4T0.2 GenPept UniProtKB/Swiss-Prot:Q6X4T0

Gene LinkOut

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