C14orf39 (chromosome 14 open reading frame 39)

Gene

• Entrez ID: 317761
• Gene name: Chromosome 14 open reading frame 39
• Gene symbol: C14orf39
• Synonyms: 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	21873635
GO:0000801	Component	Central element	ISS
GO:0003674	Function	Molecular_function	ND
GO:0005515	Function	Protein binding	IPI	32296183, 32814053
GO:0005575	Component	Cellular_component	ND
GO:0005694	Component	Chromosome	ISS
GO:0007129	Process	Homologous chromosome pairing at meiosis	IBA	21873635
GO:0007129	Process	Homologous chromosome pairing at meiosis	ISS
GO:0007275	Process	Multicellular organism development	IEA
GO:0007283	Process	Spermatogenesis	IBA	21873635
GO:0007283	Process	Spermatogenesis	ISS
GO:0010705	Process	Meiotic DNA double-strand break processing involved in reciprocal meiotic recombination	IBA	21873635
GO:0010705	Process	Meiotic DNA double-strand break processing involved in reciprocal meiotic recombination	ISS
GO:0048477	Process	Oogenesis	IBA	21873635
GO:0048477	Process	Oogenesis	ISS
GO:0051090	Process	Regulation of DNA-binding transcription factor activity	NAS	15703187

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

• Sequence:

  MNDSLFVSLDRLLLEFVFQYEQDISTKEEMIQRINKCCEDIKENKVTICRIHETINATDE
  EIDHYCKHSEEIKDNCRNWKPTCDVFRKHEDYMQDQFTVYQGTVEKDKEMYHDYICQYKE
  VLKQYQLKYSETPFSREYYEKKREHEEIQSRVLACTEQLKMNETIFMKFRVPAPFPSLTK
  WTLNIVNLRCETQDILKHASNLTKSSSELKKEVDEMEIEINYLNQQISRHNETKALSETL
  EEKNKNTENRKELKERIFGKDEHVLTLNKTQSSQLFLPYESQKLVRPIKMHSSEPRVADI
  KEESSAKQSKLANIDFRQKENDTQIFNDSAVDNHSKCSHITTITSSQKFMQVRLLTPQKQ
  SNSNQWSEKGDKDAEYGDKGTVRQVRESKCTSQAIYTEHFGKSVENDSDEVEERAENFPR
  TSEIPIFLGTPKAVKAPESLEKIKFPKTPPFEINRNRNAVPEVQTEKESPGLSFLMSYTS
  RSPGLNLFDSSVFDTEISSDQFNEHYSARNLNPLSSEQEIGNLLEKPEGEDGFTFSFPSD
  TSTHTFGAGKDDFSFPFSFGQGQNSIPSSSLKGFSSSSQNTTQFTFF

• Sequence length: 587

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Glaucoma	Glaucoma, Glaucoma, Open-Angle	rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328, rs121909193, rs74315330, rs74315329, rs74315332, rs74315334, rs74315336, rs74315338, rs74315341, rs121909194, rs74315331, rs1558603396, rs387907175, rs587778873, rs587778875, rs104894979, rs137854895, rs766425037, rs72549380, rs148542782, rs541217363, rs753021890, rs771076928, rs56010818, rs777678299, rs1446110883, rs1573274915, rs1587545234, rs751768343, rs944452644	30054594, 22570617, 26752265

Unknown
Disease name	Disease term	dbSNP ID	References
Optic disc anomalies with retinal and/or macular dystrophy	OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY