NOBOX (NOBOX oogenesis homeobox)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 135935
Gene name NOBOX oogenesis homeobox
Gene symbol NOBOX
Synonyms (NCBI Gene)
OG-2OG2OG2XPOF5TCAG_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 information provided by dbSNP.
7
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.
1
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (13)
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
610934 22448 ENSG00000106410
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
84
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (4)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Genetic non-acquired premature ovarian failure Pathogenic; Likely pathogenic rs1353957108, rs1476085935, rs2128861344, rs568492478, rs2128860927 RCV001661754
RCV001661773
RCV001663369
RCV001663374
RCV001663375
NOBOX-related disorder Likely pathogenic rs991077121 RCV003402254
Premature ovarian failure Likely pathogenic rs1006463439 RCV001270206
Premature ovarian failure 5 Pathogenic; Likely pathogenic rs193303102, rs193303103, rs193303104, rs1218620893 RCV000154189
RCV000154192
RCV000154193
RCV001002729
Show/Hide Unknown Diseases (2)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Familial cancer of breast Uncertain significance rs370043070 RCV000207333
Premature ovarian failure 1 Benign; Likely benign rs7800847 RCV000987991
Show/Hide Text Mining Associations (5)
Associations from Text MiningDisease associations identified through Pubtator
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