C14orf39 (chromosome 14 open reading frame 39)

Gene

• Entrez ID: 317761
• Gene name: Chromosome 14 open reading frame 39
• Gene symbol: C14orf39
• Synonyms (NCBI Gene): POF18, SPGF52, Six6os1
• Chromosome: 14
• Chromosome location: 14q23.1

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT023303	hsa-miR-122-5p	Microarray	17612493
MIRT833204	hsa-miR-1276	CLIP-seq
MIRT833205	hsa-miR-3942-5p	CLIP-seq
MIRT833206	hsa-miR-4274	CLIP-seq
MIRT833207	hsa-miR-4307	CLIP-seq
MIRT833208	hsa-miR-4311	CLIP-seq
MIRT833209	hsa-miR-4422	CLIP-seq
MIRT833210	hsa-miR-4503	CLIP-seq
MIRT833211	hsa-miR-4662a-5p	CLIP-seq
MIRT833212	hsa-miR-4703-5p	CLIP-seq
MIRT833213	hsa-miR-4775	CLIP-seq
MIRT833214	hsa-miR-488	CLIP-seq
MIRT833215	hsa-miR-583	CLIP-seq
MIRT833216	hsa-miR-590-3p	CLIP-seq
MIRT1946783	hsa-miR-2116	CLIP-seq
MIRT1946784	hsa-miR-4677-5p	CLIP-seq
MIRT2185000	hsa-miR-4698	CLIP-seq
MIRT2185001	hsa-miR-548p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000801	Component	Central element	IBA
GO:0000801	Component	Central element	IEA
GO:0000801	Component	Central element	ISS
GO:0005515	Function	Protein binding	IPI	32296183, 32814053
GO:0005694	Component	Chromosome	IEA
GO:0005694	Component	Chromosome	ISS
GO:0006310	Process	DNA recombination	IEA
GO:0007129	Process	Homologous chromosome pairing at meiosis	IBA
GO:0007129	Process	Homologous chromosome pairing at meiosis	IEA
GO:0007129	Process	Homologous chromosome pairing at meiosis	IMP	33508233
GO:0007129	Process	Homologous chromosome pairing at meiosis	ISS
GO:0007130	Process	Synaptonemal complex assembly	IEA
GO:0007283	Process	Spermatogenesis	IBA
GO:0007283	Process	Spermatogenesis	IEA
GO:0007283	Process	Spermatogenesis	ISS
GO:0010705	Process	Meiotic DNA double-strand break processing involved in reciprocal meiotic recombination	IBA
GO:0010705	Process	Meiotic DNA double-strand break processing involved in reciprocal meiotic recombination	IEA
GO:0010705	Process	Meiotic DNA double-strand break processing involved in reciprocal meiotic recombination	ISS
GO:0030154	Process	Cell differentiation	IEA
GO:0048477	Process	Oogenesis	IBA
GO:0048477	Process	Oogenesis	IEA
GO:0048477	Process	Oogenesis	ISS
GO:0051090	Process	Regulation of DNA-binding transcription factor activity	NAS	15703187
GO:0051321	Process	Meiotic cell cycle	IEA

Other IDs

• MIM: 617307
• HGNC: 19849
• e!Ensembl: ENSG00000179008

Protein

• UniProt ID: Q8N1H7
• Protein name: Protein SIX6OS1 (Six6 opposite strand transcript 1)
• Protein function: Meiotic protein that localizes to the central element of the synaptonemal complex and is required for chromosome synapsis during meiotic recombination. Required for the appropriate processing of intermediate recombination nodules before crossove
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15676	S6OS1	31 → 587	Six6 opposite strand transcript 1 family	Family

• Tissue specificity: TISSUE SPECIFICITY: Highest expression in retina, skeletal muscle, testis and colon. {ECO:0000269|PubMed:15703187, ECO:0000269|PubMed:33508233}.
• Sequence:

  MNDSLFVSLDRLLLEFVFQYEQDISTKEEMIQRINKCCEDIKENKVTICRIHETINATDE
  EIDHYCKHSEEIKDNCRNWKPTCDVFRKHEDYMQDQFTVYQGTVEKDKEMYHDYICQYKE
  VLKQYQLKYSETPFSREYYEKKREHEEIQSRVLACTEQLKMNETIFMKFRVPAPFPSLTK
  WTLNIVNLRCETQDILKHASNLTKSSSELKKEVDEMEIEINYLNQQISRHNETKALSETL
  EEKNKNTENRKELKERIFGKDEHVLTLNKTQSSQLFLPYESQKLVRPIKMHSSEPRVADI
  KEESSAKQSKLANIDFRQKENDTQIFNDSAVDNHSKCSHITTITSSQKFMQVRLLTPQKQ
  SNSNQWSEKGDKDAEYGDKGTVRQVRESKCTSQAIYTEHFGKSVENDSDEVEERAENFPR
  TSEIPIFLGTPKAVKAPESLEKIKFPKTPPFEINRNRNAVPEVQTEKESPGLSFLMSYTS
  RSPGLNLFDSSVFDTEISSDQFNEHYSARNLNPLSSEQEIGNLLEKPEGEDGFTFSFPSD
  TSTHTFGAGKDDFSFPFSFGQGQNSIPSSSLKGFSSSSQNTTQFTFF

• Sequence length: 587

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Azoospermia	Pathogenic	rs1406759691	RCV001797167
Non-obstructive azoospermia	Pathogenic	rs1891315296, rs997282049, rs1406759691	RCV001530958 RCV001530957 RCV001530956
Premature ovarian failure 18	Likely pathogenic; Pathogenic	rs748322684, rs1406759691	RCV005412147 RCV001293258
Spermatogenic failure 52	Likely pathogenic; Pathogenic	rs748322684, rs1891315296, rs997282049, rs1406759691	RCV005412147 RCV001293260 RCV001293259 RCV001293257

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
C14orf39-related disorder	Likely benign	rs149339653	RCV003981342
Inherited primary ovarian failure	Uncertain significance	rs760326576	RCV003994698

Associations from Text Mining
Disease Name	Relationship Type	References
Azoospermia	Associate	33508233, 35172124
Carcinoma Squamous Cell	Stimulate	36689258
Coronary Artery Disease	Associate	26305337
Infertility	Associate	33508233
Primary Ovarian Insufficiency	Associate	33508233