Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	317761
Gene name Gene Name - the full gene name approved by the HGNC.	Chromosome 14 open reading frame 39
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	C14orf39
Synonyms (NCBI Gene) Gene synonyms aliases	POF18, SPGF52, Six6os1
Disease Acronyms (UniProt) Disease acronyms from UniProt database	POF18, SPGF52
Chromosome Chromosome number	14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	14q23.1

Show/Hide all(18)

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

Show/Hide all(16)

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

MIM	HGNC	e!Ensembl
617307	19849	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

Interactions

View interactions

Show/Hide Causal Diseases (1)

Disease term	Disease name	dbSNP ID	References
Causal
Glaucoma	Glaucoma, Glaucoma, Open-Angle	rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328 View all (29 more)	30054594, 22570617, 26752265

Show/Hide Unknown Diseases (4)

Disease term	Disease name	Evidence	Source
Unknown
Spermatogenic Failure	spermatogenic failure 52		GenCC
Premature Ovarian Failure	premature ovarian failure 18		GenCC
Hyperopia	Hyperopia		GWAS
Prostate cancer	Prostate cancer	Together, these results show that PRRX2 is an oncogene and might play a role in the aggressiveness of PC within the DNPC population.	GWAS, CBGDA

Show/Hide Text Mining Associations (5)

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

C14orf39 (chromosome 14 open reading frame 39)