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    C14orf39 chromosome 14 open reading frame 39 [ Homo sapiens (human) ]

    Gene ID: 317761, updated on 10-Dec-2024

    Summary

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    Official Symbol
    C14orf39provided by HGNC
    Official Full Name
    chromosome 14 open reading frame 39provided by HGNC
    Primary source
    HGNC:HGNC:19849
    See related
    Ensembl:ENSG00000179008 MIM:617307; AllianceGenome:HGNC:19849
    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
    POF18; SPGF52; Six6os1
    Summary
    Involved in homologous chromosome pairing at meiosis. Predicted to be located in chromosome. Predicted to be active in central element. Implicated in primary ovarian insufficiency 18 and spermatogenic failure 52. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in testis (RPKM 4.3), salivary gland (RPKM 0.6) and 3 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See C14orf39 in Genome Data Viewer
    Location:
    14q23.1
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (60435956..60515544, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (54642261..54705881, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (60902674..60952781, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8476 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5811 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8477 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8478 Neighboring gene long intergenic non-protein coding RNA 2322 Neighboring gene GNRHR2 pseudogene 1 Neighboring gene RBM8A pseudogene 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:60977732-60978503 Neighboring gene spalt like transcription factor 4 pseudogene 7 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:60981577-60982078 Neighboring gene SIX homeobox 6 Neighboring gene vomeronasal 1 receptor 59 pseudogene Neighboring gene ribosomal protein L37 pseudogene 5

    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. In silico analysis of a novel pathogenic variant c.7G > A in C14orf39 gene identified by WES in a Pakistani family with azoospermia. Ali H, et al. Mol Genet Genomics, 2022 May. PMID 35305148
    2. Variations of C14ORF39 and SYCE1 Identified in Idiopathic Premature Ovarian Insufficiency and Nonobstructive Azoospermia. Hou D, et al. J Clin Endocrinol Metab, 2022 Feb 17. PMID 34718620
    3. Homozygous mutations in C14orf39/SIX6OS1 cause non-obstructive azoospermia and premature ovarian insufficiency in humans. Fan S, et al. Am J Hum Genet, 2021 Feb 4. PMID 33508233, Free PMC Article
    4. C14ORF39/SIX6OS1 is a constituent of the synaptonemal complex and is essential for mouse fertility. Gómez-H L, et al. Nat Commun, 2016 Oct 31. PMID 27796301, Free PMC Article
    5. The PSMA8 subunit of the spermatoproteasome is essential for proper meiotic exit and mouse fertility. Gómez-H L, et al. PLoS Genet, 2019 Aug. PMID 31437213, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. In silico analysis of a novel pathogenic variant c.7G > A in C14orf39 gene identified by WES in a Pakistani family with azoospermia.
      Title: In silico analysis of a novel pathogenic variant c.7G > A in C14orf39 gene identified by WES in a Pakistani family with azoospermia.
    2. Variations of C14ORF39 and SYCE1 Identified in Idiopathic Premature Ovarian Insufficiency and Nonobstructive Azoospermia.
      Title: Variations of C14ORF39 and SYCE1 Identified in Idiopathic Premature Ovarian Insufficiency and Nonobstructive Azoospermia.
    3. Homozygous mutations in C14orf39/SIX6OS1 cause non-obstructive azoospermia and premature ovarian insufficiency in humans.
      Title: Homozygous mutations in C14orf39/SIX6OS1 cause non-obstructive azoospermia and premature ovarian insufficiency in humans.
    Submit: New GeneRIF Correction

    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

    Associated conditions

    Description Tests
    Premature ovarian failure 18
    MedGen: C5543095 OMIM: 619203 GeneReviews: Not available
    		Compare labs
    Spermatogenic failure 52
    MedGen: C5543094 OMIM: 619202 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.
    EBI GWAS Catalog
    Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
    EBI GWAS Catalog
    Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
    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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    Homology

    Clone Names

    • MGC149706

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in homologous chromosome pairing at meiosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in homologous chromosome pairing at meiosis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in homologous chromosome pairing at meiosis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in meiotic DNA double-strand break processing involved in reciprocal meiotic recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in meiotic DNA double-strand break processing involved in reciprocal meiotic recombination ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in oogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in oogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of DNA-binding transcription factor activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in spermatogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in spermatogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in synaptonemal complex assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in central element IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in central element ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in chromosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    protein SIX6OS1
    Names
    six6 opposite strand transcript 1

    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_174978.3 → NP_777638.3  protein SIX6OS1

      Status: VALIDATED

      Source sequence(s)
      AL122057, AL132778
      Consensus CDS
      CCDS9746.1
      UniProtKB/Swiss-Prot
      Q08AQ4, Q8N1H7
      Related
      ENSP00000324920.3, ENST00000321731.8
      Conserved Domains (1) summary
      pfam15676
      Location:37 → 587
      S6OS1; Six6 opposite strand transcript 1 family

    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
      60435956..60515544 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047431324.1 → XP_047287280.1  protein SIX6OS1 isoform X3

      UniProtKB/Swiss-Prot
      Q08AQ4, Q8N1H7

    2. XM_017021250.3 → XP_016876739.1  protein SIX6OS1 isoform X8

    3. XM_017021248.3 → XP_016876737.1  protein SIX6OS1 isoform X5

    4. XM_047431327.1 → XP_047287283.1  protein SIX6OS1 isoform X7

    5. XM_047431325.1 → XP_047287281.1  protein SIX6OS1 isoform X6

    6. XM_024449555.2 → XP_024305323.1  protein SIX6OS1 isoform X4

      Conserved Domains (1) summary
      pfam15676
      Location:37 → 586
      S6OS1; Six6 opposite strand transcript 1 family

    7. XM_017021247.2 → XP_016876736.1  protein SIX6OS1 isoform X2

    8. XM_011536690.4 → XP_011534992.1  protein SIX6OS1 isoform X1

      Conserved Domains (1) summary
      pfam15676
      Location:73 → 623
      S6OS1; Six6 opposite strand transcript 1 family

    9. XM_047431326.1 → XP_047287282.1  protein SIX6OS1 isoform X6

    10. XM_047431323.1 → XP_047287279.1  protein SIX6OS1 isoform X3

      UniProtKB/Swiss-Prot
      Q08AQ4, Q8N1H7

    11. XM_047431322.1 → XP_047287278.1  protein SIX6OS1 isoform X1

    12. XM_017021251.2 → XP_016876740.1  protein SIX6OS1 isoform X8

    13. XM_011536703.3 → XP_011535005.1  protein SIX6OS1 isoform X9

      Conserved Domains (1) summary
      pfam15676
      Location:73 → 429
      S6OS1; Six6 opposite strand transcript 1 family

    RNA

    1. XR_007064008.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      54642261..54705881 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054375943.1 → XP_054231918.1  protein SIX6OS1 isoform X8

    2. XM_054375940.1 → XP_054231915.1  protein SIX6OS1 isoform X5

    3. XM_054375942.1 → XP_054231917.1  protein SIX6OS1 isoform X7

    4. XM_054375941.1 → XP_054231916.1  protein SIX6OS1 isoform X6

    5. XM_054375939.1 → XP_054231914.1  protein SIX6OS1 isoform X4

    6. XM_054375937.1 → XP_054231912.1  protein SIX6OS1 isoform X2

    7. XM_054375936.1 → XP_054231911.1  protein SIX6OS1 isoform X1

    8. XM_054375938.1 → XP_054231913.1  protein SIX6OS1 isoform X3

    9. XM_054375944.1 → XP_054231919.1  protein SIX6OS1 isoform X8

    10. XM_054375945.1 → XP_054231920.1  protein SIX6OS1 isoform X9

    RNA

    1. XR_008488859.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N1H7.2 GenPept UniProtKB/Swiss-Prot:Q8N1H7

    Gene LinkOut

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