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    C14orf132 chromosome 14 open reading frame 132 [ Homo sapiens (human) ]

    Gene ID: 56967, updated on 28-Oct-2024

    Summary

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    Official Symbol
    C14orf132provided by HGNC
    Official Full Name
    chromosome 14 open reading frame 132provided by HGNC
    Primary source
    HGNC:HGNC:20346
    See related
    Ensembl:ENSG00000227051 AllianceGenome:HGNC:20346
    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
    C14orf88
    Summary
    Predicted to be located in membrane. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Broad expression in brain (RPKM 28.5), endometrium (RPKM 10.8) and 14 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See C14orf132 in Genome Data Viewer
    Location:
    14q32.2
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (96039362..96093971)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (90270626..90325234)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (96505699..96560308)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370644 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:96352667-96353446 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr14:96357499-96358698 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:96366753-96367253 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:96370580-96371523 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:96373730-96374416 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:96375462-96375984 Neighboring gene TCL1 upstream neural differentiation-associated RNA Neighboring gene MPRA-validated peak2244 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:96413280-96414129 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr14:96414130-96414978 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr14:96414979-96415828 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr14:96434413-96434986 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:96441645-96442145 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr14:96444767-96445284 Neighboring gene NANOG hESC enhancer GRCh37_chr14:96445987-96446488 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:96458745-96459302 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr14:96459861-96460418 and GRCh37_chr14:96460419-96460976 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:96467893-96468394 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6051 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6052 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8981 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:96519945-96520444 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:96526720-96526873 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:96529045-96529222 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8982 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:96552361-96553560 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_38841 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:96560846-96561346 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:96561347-96561847 Neighboring gene uncharacterized LOC124903374 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:96563297-96563798 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8983 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:96642023-96642523 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:96658061-96658668 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:96659886-96660494 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:96660495-96661102 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:96661103-96661710 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:96661711-96662318 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:96664109-96664715 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:96670637-96671512 Neighboring gene bradykinin receptor B2 Neighboring gene CDC28 protein kinase regulatory subunit 1B pseudogene 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 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. C14orf132 gene is possibly related to extremely low birth weight. Tiirats A, et al. BMC Genet, 2016 Sep 22. PMID 27660052, Free PMC Article
    2. Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method. Oshikawa M, et al. Invest Ophthalmol Vis Sci, 2011 Aug 22. PMID 21697133
    3. Large-scale concatenation cDNA sequencing. Yu W, et al. Genome Res, 1997 Apr. PMID 9110174, Free PMC Article
    4. A "double adaptor" method for improved shotgun library construction. Andersson B, et al. Anal Biochem, 1996 Apr 5. PMID 8619474
    5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    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

    • FLJ10728, FLJ93483, DKFZp761F2014

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    uncharacterized protein C14orf132

    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_001252507.3 → NP_001239436.1  uncharacterized protein C14orf132 isoform b

      See identical proteins and their annotated locations for NP_001239436.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks a portion of the 5' UTR and 5' coding region, and uses an alternate translational start codon, compared to variant 1. The encoded isoform (b) has a distinct N-terminus and is shorter than isoform a. Both variants 2 and 3 encode isoform b.
      Source sequence(s)
      AL137190, BC043593, CA434364, DB264577
      Consensus CDS
      CCDS81848.1
      UniProtKB/Swiss-Prot
      B2R7K5, Q9NPU4
      Related
      ENSP00000490729.1, ENST00000555004.3

    2. NM_001282463.2 → NP_001269392.1  uncharacterized protein C14orf132 isoform a

      See identical proteins and their annotated locations for NP_001269392.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes isoform a.
      Source sequence(s)
      AL137190, CA434364, DA114412, DB264577
      Consensus CDS
      CCDS81849.1
      UniProtKB/TrEMBL
      A0A1B0GU51
      Related
      ENSP00000489964.1, ENST00000553764.1

    3. NM_001282464.2 → NP_001269393.1  uncharacterized protein C14orf132 isoform b

      See identical proteins and their annotated locations for NP_001269393.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks a portion of the 5' UTR and 5' coding region, uses an alternate translational start codon, and differs in the 3' UTR, compared to variant 1. The encoded isoform (b) has a distinct N-terminus and is shorter than isoform a. Both variants 2 and 3 encode isoform b.
      Source sequence(s)
      BI791809, CA434364, DA811354, DB264577
      Consensus CDS
      CCDS81848.1
      UniProtKB/Swiss-Prot
      B2R7K5, Q9NPU4
      Related
      ENSP00000490894.1, ENST00000556728.1

    4. NM_001289139.2 → NP_001276068.1  uncharacterized protein C14orf132 isoform c

      See identical proteins and their annotated locations for NP_001276068.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) contains multiple differences in the 5' UTR and 5' coding region, compared to variant 1, and uses an alternate translational start codon. The encoded isoform (c) has a distinct N-terminus and is longer than isoform a.
      Source sequence(s)
      AL137190, CA434364, DA249054, DA811354, DB264577
      Consensus CDS
      CCDS81847.1
      UniProtKB/TrEMBL
      A0A1B0GWH2
      Related
      ENSP00000490925.1, ENST00000553782.1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      96039362..96093971
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      90270626..90325234
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_020215.2: Suppressed sequence

      Description
      NM_020215.2: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.

    2. NR_023938.1: Suppressed sequence

      Description
      NR_023938.1: This RefSeq was permanently suppressed because it is now thought that this gene does encode a protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NPU4.2 GenPept UniProtKB/Swiss-Prot:Q9NPU4

    Gene LinkOut

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

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