NOBOX (NOBOX oogenesis homeobox)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
135935
Gene name Gene Name - the full gene name approved by the HGNC.
NOBOX oogenesis homeobox
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NOBOX
Synonyms (NCBI Gene) Gene synonyms aliases
OG-2, OG2, OG2X, POF5, TCAG_12042
Disease Acronyms (UniProt) Disease acronyms from UniProt database
POF5
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q35
Summary Summary of gene provided in NCBI Entrez Gene.
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 information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(7)
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
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
miRTarBase ID miRNA Experiments Reference
MIRT018764 hsa-miR-335-5p Microarray 18185580
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(10)
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 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
GO:0005634 Component Nucleus IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
610934 22448 ENSG00000106410
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Premature ovarian failure Premature Ovarian Failure 5 rs587776535, rs71647804, rs137853320, rs606231206, rs121918655, rs121918656, rs606231207, rs606231208, rs80359775, rs397507719, rs200503569, rs587777267, rs730880018, rs587777268, rs587777269
View all (40 more)		 17701902, 25514101, 27798098, 21837770
Show/Hide Unknown Diseases (1)
Unknown
Disease term Disease name Evidence References Source
Premature Ovarian Failure premature ovarian failure 5 GenCC
Show/Hide Text Mining Associations (5)
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