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

Gene ID: 60686, updated on 5-Mar-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 anatomical structure development; cell differentiation; and positive regulation of gene expression. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in skin (RPKM 1.7), thyroid (RPKM 1.6) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
14q11.2
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (22985894..23010143, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (17186512..17210763, complement)
105.20220307 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 (19) 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)

Genotypes

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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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_2023_10

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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