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    C14orf93 chromosome 14 open reading frame 93 [ Homo sapiens (human) ]

    Gene ID: 60686, updated on 10-Dec-2024

    Summary

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    Official Symbol
    C14orf93provided by HGNC
    Official Full Name
    chromosome 14 open reading frame 93provided by HGNC
    Primary source
    HGNC:HGNC:20162
    See related
    Ensembl:ENSG00000100802 AllianceGenome:HGNC:20162
    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
    RTFC
    Summary
    Enables RNA binding activity. Predicted to act upstream of or within cell differentiation and positive regulation of gene expression. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in skin (RPKM 1.7), thyroid (RPKM 1.6) and 25 other tissues See more
    Orthologs
    mouse all
    NEW
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    Try the new Transcript table

    Genomic context

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    See C14orf93 in Genome Data Viewer
    Location:
    14q11.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (22985894..23010143, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (17186512..17210763, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (23455103..23479352, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene HAUS augmin like complex subunit 4 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:23426503-23427082 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23427083-23427661 Neighboring gene microRNA 4707 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:23444107-23444607 Neighboring gene Sharpr-MPRA regulatory region 809 Neighboring gene uncharacterized LOC124903287 Neighboring gene ajuba LIM protein Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:23450809-23451774 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:23451775-23452740 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5597 Neighboring gene AJUBA divergent transcript Neighboring gene uncharacterized LOC124903286 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8156 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5598 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:23477153-23477713 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5599 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8157 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr14:23503835-23505034 Neighboring gene proteasome 20S subunit beta 5 Neighboring gene proteasome subunit beta 11

    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. C14orf93 (RTFC) is identified as a novel susceptibility gene for familial nonmedullary thyroid cancer. Liu C, et al. Biochem Biophys Res Commun, 2017 Jan 22. PMID 27864143
    2. Rtfc (4931414P19Rik) Regulates in vitro Thyroid Differentiation and in vivo Thyroid Function. Yu Y, et al. Sci Rep, 2017 Feb 23. PMID 28230092, Free PMC Article
    3. Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances. Fatemifar G, et al. Hum Mol Genet, 2013 Sep 15. PMID 23704328, Free PMC Article
    4. The variant Polycomb Repressor Complex 1 component PCGF1 interacts with a pluripotency sub-network that includes DPPA4, a regulator of embryogenesis. Oliviero G, et al. Sci Rep, 2015 Dec 21. PMID 26687479, Free PMC Article
    5. Interpreting cancer genomes using systematic host network perturbations by tumour virus proteins. Rozenblatt-Rosen O, et al. Nature, 2012 Jul 26. PMID 22810586, Free PMC Article

    See all (20) citations in PubMed

    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

    EBI GWAS Catalog

    Description
    Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ12154

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    uncharacterized protein C14orf93
    Names
    regulator of thyroid function and cancer

    NCBI Reference Sequences (RefSeq)

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    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_001130706.3 → NP_001124178.1  uncharacterized protein C14orf93 isoform a precursor

      See identical proteins and their annotated locations for NP_001124178.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in in the 5' UTR, compared to variant 1. Variants 1, 2, and 4 encode the same isoform (a).
      Source sequence(s)
      AK023026, AL132780, BC014299, BX161417, DA891690
      Consensus CDS
      CCDS9583.1
      UniProtKB/Swiss-Prot
      B7WP03, D3DS38, D3DS39, Q86SE6, Q96CF7, Q9H972, Q9HA68
      Related
      ENSP00000380535.3, ENST00000397379.7
      Conserved Domains (1) summary
      pfam15394
      Location:2 → 538
      DUF4616; Domain of unknown function (DUF4616)

    2. NM_001130708.3 → NP_001124180.1  uncharacterized protein C14orf93 isoform a precursor

      See identical proteins and their annotated locations for NP_001124180.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in in the 5' UTR, compared to variant 1. Variants 1, 2, and 4 encode the same isoform (a).
      Source sequence(s)
      AK023026, AL132780, BC014299, DA891690
      Consensus CDS
      CCDS9583.1
      UniProtKB/Swiss-Prot
      B7WP03, D3DS38, D3DS39, Q86SE6, Q96CF7, Q9H972, Q9HA68
      Conserved Domains (1) summary
      pfam15394
      Location:2 → 538
      DUF4616; Domain of unknown function (DUF4616)

    3. NM_001282968.2 → NP_001269897.1  uncharacterized protein C14orf93 isoform b

      See identical proteins and their annotated locations for NP_001269897.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (b) has a shorter N-terminus than isoform a. Variants 5 and 6 encode the same isoform (b).
      Source sequence(s)
      AL132780, BC014299, BX161507, CN309429, DA891690
      Consensus CDS
      CCDS61399.1
      UniProtKB/TrEMBL
      A0A0C4DFZ6
      Related
      ENSP00000380533.1, ENST00000397377.5
      Conserved Domains (1) summary
      pfam15394
      Location:12 → 358
      DUF4616; Domain of unknown function (DUF4616)

    4. NM_001282969.1 → NP_001269898.1  uncharacterized protein C14orf93 isoform b

      See identical proteins and their annotated locations for NP_001269898.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (b) has a shorter N-terminus than isoform a. Variants 5 and 6 encode the same isoform (b).
      Source sequence(s)
      BC014299, BX161474, CN309429
      Consensus CDS
      CCDS61399.1
      UniProtKB/TrEMBL
      A0A0C4DFZ6
      Conserved Domains (1) summary
      pfam15394
      Location:12 → 358
      DUF4616; Domain of unknown function (DUF4616)

    5. NM_001282970.2 → NP_001269899.1  uncharacterized protein C14orf93 isoform c

      See identical proteins and their annotated locations for NP_001269899.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) uses an alternate exon structure in the 3' coding region, compared to variant 1. The encoded isoform (c) is shorter than isoform a.
      Source sequence(s)
      BC014299, BX161383, CN309429, DA891690
      Consensus CDS
      CCDS61400.1
      UniProtKB/Swiss-Prot
      Q9H972
      Related
      ENSP00000341353.4, ENST00000341470.8
      Conserved Domains (1) summary
      pfam15394
      Location:2 → 498
      DUF4616; Domain of unknown function (DUF4616)

    6. NM_021944.4 → NP_068763.2  uncharacterized protein C14orf93 isoform a precursor

      See identical proteins and their annotated locations for NP_068763.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). Variants 1, 2, and 4 encode the same isoform (a).
      Source sequence(s)
      AK022216, AK023026, AL132780, BC014299
      Consensus CDS
      CCDS9583.1
      UniProtKB/Swiss-Prot
      B7WP03, D3DS38, D3DS39, Q86SE6, Q96CF7, Q9H972, Q9HA68
      Related
      ENSP00000299088.6, ENST00000299088.11
      Conserved Domains (1) summary
      pfam15394
      Location:2 → 538
      DUF4616; Domain of unknown function (DUF4616)

    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
      22985894..23010143 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047431672.1 → XP_047287628.1  uncharacterized protein C14orf93 isoform X2

      UniProtKB/TrEMBL
      A0A0C4DFZ6

    2. XM_005267971.2 → XP_005268028.1  uncharacterized protein C14orf93 isoform X1

      See identical proteins and their annotated locations for XP_005268028.1

      UniProtKB/Swiss-Prot
      B7WP03, D3DS38, D3DS39, Q86SE6, Q96CF7, Q9H972, Q9HA68
      Conserved Domains (1) summary
      pfam15394
      Location:2 → 538
      DUF4616; Domain of unknown function (DUF4616)

    3. XM_006720232.3 → XP_006720295.1  uncharacterized protein C14orf93 isoform X2

      See identical proteins and their annotated locations for XP_006720295.1

      UniProtKB/TrEMBL
      A0A0C4DFZ6
      Conserved Domains (1) summary
      pfam15394
      Location:12 → 358
      DUF4616; Domain of unknown function (DUF4616)

    4. XM_047431663.1 → XP_047287619.1  uncharacterized protein C14orf93 isoform X1

      UniProtKB/Swiss-Prot
      B7WP03, D3DS38, D3DS39, Q86SE6, Q96CF7, Q9H972, Q9HA68

    5. XM_017021576.2 → XP_016877065.1  uncharacterized protein C14orf93 isoform X2

      UniProtKB/TrEMBL
      A0A0C4DFZ6
      Conserved Domains (1) summary
      pfam15394
      Location:12 → 358
      DUF4616; Domain of unknown function (DUF4616)

    6. XM_017021573.2 → XP_016877062.1  uncharacterized protein C14orf93 isoform X1

      UniProtKB/Swiss-Prot
      B7WP03, D3DS38, D3DS39, Q86SE6, Q96CF7, Q9H972, Q9HA68
      Conserved Domains (1) summary
      pfam15394
      Location:2 → 538
      DUF4616; Domain of unknown function (DUF4616)

    7. XM_047431671.1 → XP_047287627.1  uncharacterized protein C14orf93 isoform X2

      UniProtKB/TrEMBL
      A0A0C4DFZ6

    8. XM_047431665.1 → XP_047287621.1  uncharacterized protein C14orf93 isoform X1

      UniProtKB/Swiss-Prot
      B7WP03, D3DS38, D3DS39, Q86SE6, Q96CF7, Q9H972, Q9HA68

    9. XM_006720231.2 → XP_006720294.1  uncharacterized protein C14orf93 isoform X2

      See identical proteins and their annotated locations for XP_006720294.1

      UniProtKB/TrEMBL
      A0A0C4DFZ6
      Conserved Domains (1) summary
      pfam15394
      Location:12 → 358
      DUF4616; Domain of unknown function (DUF4616)

    10. XM_005267972.3 → XP_005268029.1  uncharacterized protein C14orf93 isoform X1

      See identical proteins and their annotated locations for XP_005268029.1

      UniProtKB/Swiss-Prot
      B7WP03, D3DS38, D3DS39, Q86SE6, Q96CF7, Q9H972, Q9HA68
      Related
      ENSP00000380538.4, ENST00000397382.8
      Conserved Domains (1) summary
      pfam15394
      Location:2 → 538
      DUF4616; Domain of unknown function (DUF4616)

    11. XM_011537059.2 → XP_011535361.1  uncharacterized protein C14orf93 isoform X1

      See identical proteins and their annotated locations for XP_011535361.1

      UniProtKB/Swiss-Prot
      B7WP03, D3DS38, D3DS39, Q86SE6, Q96CF7, Q9H972, Q9HA68
      Conserved Domains (1) summary
      pfam15394
      Location:2 → 538
      DUF4616; Domain of unknown function (DUF4616)

    12. XM_047431669.1 → XP_047287625.1  uncharacterized protein C14orf93 isoform X2

      UniProtKB/TrEMBL
      A0A0C4DFZ6

    13. XM_047431666.1 → XP_047287622.1  uncharacterized protein C14orf93 isoform X1

      UniProtKB/Swiss-Prot
      B7WP03, D3DS38, D3DS39, Q86SE6, Q96CF7, Q9H972, Q9HA68

    14. XM_047431662.1 → XP_047287618.1  uncharacterized protein C14orf93 isoform X1

      UniProtKB/Swiss-Prot
      B7WP03, D3DS38, D3DS39, Q86SE6, Q96CF7, Q9H972, Q9HA68

    15. XM_047431660.1 → XP_047287616.1  uncharacterized protein C14orf93 isoform X1

      UniProtKB/Swiss-Prot
      B7WP03, D3DS38, D3DS39, Q86SE6, Q96CF7, Q9H972, Q9HA68

    16. XM_047431664.1 → XP_047287620.1  uncharacterized protein C14orf93 isoform X1

      UniProtKB/Swiss-Prot
      B7WP03, D3DS38, D3DS39, Q86SE6, Q96CF7, Q9H972, Q9HA68

    17. XM_011537062.3 → XP_011535364.1  uncharacterized protein C14orf93 isoform X1

      See identical proteins and their annotated locations for XP_011535364.1

      UniProtKB/Swiss-Prot
      B7WP03, D3DS38, D3DS39, Q86SE6, Q96CF7, Q9H972, Q9HA68
      Conserved Domains (1) summary
      pfam15394
      Location:2 → 538
      DUF4616; Domain of unknown function (DUF4616)

    18. XM_047431668.1 → XP_047287624.1  uncharacterized protein C14orf93 isoform X2

      UniProtKB/TrEMBL
      A0A0C4DFZ6

    19. XM_011537060.4 → XP_011535362.1  uncharacterized protein C14orf93 isoform X1

      See identical proteins and their annotated locations for XP_011535362.1

      UniProtKB/Swiss-Prot
      B7WP03, D3DS38, D3DS39, Q86SE6, Q96CF7, Q9H972, Q9HA68
      Conserved Domains (1) summary
      pfam15394
      Location:2 → 538
      DUF4616; Domain of unknown function (DUF4616)

    20. XM_047431667.1 → XP_047287623.1  uncharacterized protein C14orf93 isoform X2

      UniProtKB/TrEMBL
      A0A0C4DFZ6

    21. XM_017021572.3 → XP_016877061.1  uncharacterized protein C14orf93 isoform X1

      UniProtKB/Swiss-Prot
      B7WP03, D3DS38, D3DS39, Q86SE6, Q96CF7, Q9H972, Q9HA68
      Conserved Domains (1) summary
      pfam15394
      Location:2 → 538
      DUF4616; Domain of unknown function (DUF4616)

    22. XM_017021570.3 → XP_016877059.1  uncharacterized protein C14orf93 isoform X1

      UniProtKB/Swiss-Prot
      B7WP03, D3DS38, D3DS39, Q86SE6, Q96CF7, Q9H972, Q9HA68
      Conserved Domains (1) summary
      pfam15394
      Location:2 → 538
      DUF4616; Domain of unknown function (DUF4616)

    23. XM_017021574.3 → XP_016877063.1  uncharacterized protein C14orf93 isoform X1

      UniProtKB/Swiss-Prot
      B7WP03, D3DS38, D3DS39, Q86SE6, Q96CF7, Q9H972, Q9HA68
      Conserved Domains (1) summary
      pfam15394
      Location:2 → 538
      DUF4616; Domain of unknown function (DUF4616)

    24. XM_047431661.1 → XP_047287617.1  uncharacterized protein C14orf93 isoform X1

      UniProtKB/Swiss-Prot
      B7WP03, D3DS38, D3DS39, Q86SE6, Q96CF7, Q9H972, Q9HA68

    25. XM_017021575.3 → XP_016877064.1  uncharacterized protein C14orf93 isoform X2

      UniProtKB/TrEMBL
      A0A0C4DFZ6
      Conserved Domains (1) summary
      pfam15394
      Location:12 → 358
      DUF4616; Domain of unknown function (DUF4616)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      17186512..17210763 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054376550.1 → XP_054232525.1  uncharacterized protein C14orf93 isoform X2

      UniProtKB/TrEMBL
      A0A0C4DFZ6

    2. XM_054376545.1 → XP_054232520.1  uncharacterized protein C14orf93 isoform X1

      UniProtKB/Swiss-Prot
      B7WP03, D3DS38, D3DS39, Q86SE6, Q96CF7, Q9H972, Q9HA68

    3. XM_054376548.1 → XP_054232523.1  uncharacterized protein C14orf93 isoform X2

      UniProtKB/TrEMBL
      A0A0C4DFZ6

    4. XM_054376544.1 → XP_054232519.1  uncharacterized protein C14orf93 isoform X1

      UniProtKB/Swiss-Prot
      B7WP03, D3DS38, D3DS39, Q86SE6, Q96CF7, Q9H972, Q9HA68

    5. XM_054376551.1 → XP_054232526.1  uncharacterized protein C14orf93 isoform X2

      UniProtKB/TrEMBL
      A0A0C4DFZ6

    6. XM_054376543.1 → XP_054232518.1  uncharacterized protein C14orf93 isoform X1

      UniProtKB/Swiss-Prot
      B7WP03, D3DS38, D3DS39, Q86SE6, Q96CF7, Q9H972, Q9HA68

    7. XM_054376549.1 → XP_054232524.1  uncharacterized protein C14orf93 isoform X2

      UniProtKB/TrEMBL
      A0A0C4DFZ6

    8. XM_054376546.1 → XP_054232521.1  uncharacterized protein C14orf93 isoform X1

      UniProtKB/Swiss-Prot
      B7WP03, D3DS38, D3DS39, Q86SE6, Q96CF7, Q9H972, Q9HA68

    9. XM_054376547.1 → XP_054232522.1  uncharacterized protein C14orf93 isoform X2

      UniProtKB/TrEMBL
      A0A0C4DFZ6
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H972.1 GenPept UniProtKB/Swiss-Prot:Q9H972

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