NOBOX (NOBOX oogenesis homeobox)

Gene

• Entrez ID: 135935
• Gene name: NOBOX oogenesis homeobox
• Gene symbol: NOBOX
• Synonyms (NCBI Gene): OG-2, OG2, OG2X, POF5, TCAG_12042
• Chromosome: 7
• Chromosome location: 7q35
• Summary: This homeobox gene encodes a transcription factor that is thought to play a role in oogenesis. In mice, it is essential for folliculogenesis and regulation of oocyte-specific genes. Defects in this gene result in premature ovarian failure type 5.[provided

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs7800847	G>A	Benign-likely-benign, likely-benign, pathogenic, benign	Coding sequence variant, missense variant
rs77587352	C>A	Benign, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs193303102	G>A	Pathogenic	Coding sequence variant, stop gained
rs193303103	C>G	Pathogenic	Missense variant, coding sequence variant, intron variant
rs193303104	C>A	Pathogenic	Missense variant, coding sequence variant
rs201947677	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs1218620893	G>A	Likely-pathogenic	Stop gained, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018764	hsa-miR-335-5p	Microarray	18185580

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005634	Component	Nucleus	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IDA	27798098
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0043565	Function	Sequence-specific DNA binding	IDA	27798098
GO:0048477	Process	Oogenesis	IEA

Other IDs

• MIM: 610934
• HGNC: 22448
• e!Ensembl: ENSG00000106410

Protein

• UniProt ID: O60393
• Protein name: Homeobox protein NOBOX
• Protein function: Transcription factor which may play a role in oogenesis. Binds preferentially to the DNA sequences 5'-TAATTG-3', 5'-TAGTTG-3' and 5'-TAATTA-3'.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00046	Homeodomain	273 → 318	Homeodomain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in ovaries, testes and pancreas. Expressed within all stages of the adult female germline, from primordial follicles through to MII oocytes. {ECO:0000269|PubMed:16597639}.
• Sequence:

  MALLLTLTSPDLEGTWDTRDKDGFKAQEGPPLAVPEFPVCGLYRIYGVCGSFSSFFIIRC
  SLCALETLKSPQHDPLEIPEQSLKLIPLVSGKRELTRGQKAGEKPLAAGPGEEELLRGSA
  PHAQDTQSEELPPSCTISGEKKPPAVSGEATGADAGRLCPPPRSRAPHKDRTLARSRPQT
  QGEDCSLPVGEVKIGKRSYSPAPGKQKKPNAMGLAPTSSPGAPNSARATHNPVPCGSGRG
  PCHLANLLSTLAQSNQNRDHKQGPPEVTCQIRKKTRTLYRSDQLEELEKIFQEDHYPDSD
  KRREIAQTVGVTPQRIMVKGAGSLVAGWSGGGPTIETLELQSERSAVAWVWFQNRRAKWR
  KMEKLNGKESKDNPAAPGPASSQCSSAAEILPAVPMEPKPDPFPQESPLDTFPEPPMLLT
  SDQTLAPTQPSEGAQRVVTPPLFSPPPVRRADLPFPLGPVHTPQLMPLLMDVAGSDSSHK
  DGPCGSWGTSITLPPPCSYLEELEPQDYQQSNQPGPFQFSQAPQPPLFQSPQPKLPYLPT
  FPFSMPSSLTLPPPEDSLFMFPCGPSGGTSQGYCPGASSGQILMQPPAGNIGTASWSDPC
  LPELPFPGPFCPQALGHPPGGDGYFPDLFPTPCPQALGRQPSSALSWMPEGARPGTGPLL
  SKAKEEPPAASLDQPSALEEARGDDKNSHVP

• Sequence length: 691

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Associated diseases

Causal
Disease merge term	Disease name	dbSNP ID	References
Premature Ovarian Failure	premature ovarian failure 5	rs193303102, rs193303103, rs193303104, rs1218620893	N/A

Associations from Text Mining
Disease Name	Relationship Type	References
Amenorrhea	Associate	34480423
Gonadal Dysgenesis	Associate	33101191
Ovarian Dysgenesis 2	Associate	17701902, 18930203
Primary Ovarian Insufficiency	Associate	17701902, 34480423, 37921973
Puberty Delayed	Associate	34480423