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Aliases for NOBOX Gene

Aliases for NOBOX Gene

  • NOBOX Oogenesis Homeobox 2 3 5
  • Newborn Ovary Homeobox-Encoding Gene 2
  • Newborn Ovary Homeobox-Encoding 3
  • Homeobox Protein NOBOX 3
  • TCAG_12042 3
  • OG-2 3
  • OG2X 3
  • POF5 3
  • OG2 3

External Ids for NOBOX Gene

Previous GeneCards Identifiers for NOBOX Gene

  • GC07M143533
  • GC07M143726
  • GC07M144094
  • GC07M138173

Summaries for NOBOX Gene

Entrez Gene Summary for NOBOX 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 by RefSeq, May 2011]

GeneCards Summary for NOBOX Gene

NOBOX (NOBOX Oogenesis Homeobox) is a Protein Coding gene. Diseases associated with NOBOX include Premature Ovarian Failure 5 and Premature Ovarian Failure. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and RNA polymerase II core promoter proximal region sequence-specific DNA binding.

UniProtKB/Swiss-Prot for NOBOX Gene

  • 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 (By similarity).

Gene Wiki entry for NOBOX Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NOBOX Gene

Genomics for NOBOX Gene

Regulatory Elements for NOBOX Gene

Enhancers for NOBOX Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around NOBOX on UCSC Golden Path with GeneCards custom track

Genomic Location for NOBOX Gene

Chromosome:
7
Start:
144,396,914 bp from pter
End:
144,410,227 bp from pter
Size:
13,314 bases
Orientation:
Minus strand

Genomic View for NOBOX Gene

Genes around NOBOX on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NOBOX Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NOBOX Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NOBOX Gene

Proteins for NOBOX Gene

  • Protein details for NOBOX Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60393-NOBOX_HUMAN
    Recommended name:
    Homeobox protein NOBOX
    Protein Accession:
    O60393
    Secondary Accessions:
    • A6NCD3
    • A8MZN5

    Protein attributes for NOBOX Gene

    Size:
    691 amino acids
    Molecular mass:
    73906 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAC12957.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for NOBOX Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NOBOX Gene

Post-translational modifications for NOBOX Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NOBOX Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for NOBOX Gene

Domains & Families for NOBOX Gene

Gene Families for NOBOX Gene

Protein Domains for NOBOX Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NOBOX Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O60393

UniProtKB/Swiss-Prot:

NOBOX_HUMAN :
  • Contains 1 homeobox DNA-binding domain.
Domain:
  • Contains 1 homeobox DNA-binding domain.
genes like me logo Genes that share domains with NOBOX: view

Function for NOBOX Gene

Molecular function for NOBOX Gene

UniProtKB/Swiss-Prot 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 (By similarity).

Gene Ontology (GO) - Molecular Function for NOBOX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IEA --
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IEA --
GO:0003677 DNA binding IEA --
GO:0003700 transcription factor activity, sequence-specific DNA binding IEA --
GO:0043565 sequence-specific DNA binding IEA --
genes like me logo Genes that share ontologies with NOBOX: view
genes like me logo Genes that share phenotypes with NOBOX: view

Human Phenotype Ontology for NOBOX Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NOBOX Gene

MGI Knock Outs for NOBOX:

Animal Model Products

CRISPR Products

miRNA for NOBOX Gene

miRTarBase miRNAs that target NOBOX

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for NOBOX Gene

Localization for NOBOX Gene

Subcellular locations from UniProtKB/Swiss-Prot for NOBOX Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NOBOX Gene COMPARTMENTS Subcellular localization image for NOBOX gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for NOBOX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with NOBOX: view

Pathways & Interactions for NOBOX Gene

SuperPathways for NOBOX Gene

No Data Available

Interacting Proteins for NOBOX Gene

Gene Ontology (GO) - Biological Process for NOBOX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001541 ovarian follicle development IEA --
GO:0006366 transcription from RNA polymerase II promoter IEA --
GO:0045944 positive regulation of transcription from RNA polymerase II promoter IEA --
GO:0048477 oogenesis IEA --
genes like me logo Genes that share ontologies with NOBOX: view

No data available for Pathways by source and SIGNOR curated interactions for NOBOX Gene

Drugs & Compounds for NOBOX Gene

No Compound Related Data Available

Transcripts for NOBOX Gene

mRNA/cDNA for NOBOX Gene

(2) REFSEQ mRNAs :
(0) Additional mRNA sequences :
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for NOBOX Gene

NOBOX oogenesis homeobox:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for NOBOX Gene

No ASD Table

Relevant External Links for NOBOX Gene

GeneLoc Exon Structure for
NOBOX
ECgene alternative splicing isoforms for
NOBOX

Expression for NOBOX Gene

mRNA expression in normal human tissues for NOBOX Gene

mRNA differential expression in normal tissues according to GTEx for NOBOX Gene

This gene is overexpressed in Testis (x36.8) and Ovary (x10.9).

Protein differential expression in normal tissues from HIPED for NOBOX Gene

This gene is overexpressed in Fetal ovary (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for NOBOX Gene



Protein tissue co-expression partners for NOBOX Gene

NURSA nuclear receptor signaling pathways regulating expression of NOBOX Gene:

NOBOX

SOURCE GeneReport for Unigene cluster for NOBOX Gene:

Hs.558628

mRNA Expression by UniProt/SwissProt for NOBOX Gene:

O60393-NOBOX_HUMAN
Tissue specificity: Expressed in ovaries, testes and pancreas. Expressed within all stages of the adult female germline, from primordial follicles through to MII oocytes.
genes like me logo Genes that share expression patterns with NOBOX: view

Primer Products

Orthologs for NOBOX Gene

This gene was present in the common ancestor of chordates.

Orthologs for NOBOX Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia NOBOX 34
  • 75.76 (n)
  • 67.62 (a)
NOBOX 35
  • 66 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nobox 34
  • 70.26 (n)
  • 57.25 (a)
Nobox 16
Nobox 35
  • 55 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NOBOX 34
  • 99.13 (n)
  • 98.41 (a)
NOBOX 35
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nobox 34
  • 73.33 (n)
  • 63.5 (a)
dog
(Canis familiaris)
Mammalia NOBOX 35
  • 55 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NOBOX 35
  • 44 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NOBOX 35
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves NOBOX 35
  • 36 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NOBOX 35
  • 35 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia hbox10-A 34
zebrafish
(Danio rerio)
Actinopterygii nobox 35
  • 21 (a)
OneToOne
Species where no ortholog for NOBOX was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NOBOX Gene

ENSEMBL:
Gene Tree for NOBOX (if available)
TreeFam:
Gene Tree for NOBOX (if available)

Paralogs for NOBOX Gene

(4) SIMAP similar genes for NOBOX Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with NOBOX: view

No data available for Paralogs for NOBOX Gene

Variants for NOBOX Gene

Sequence variations from dbSNP and Humsavar for NOBOX Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs201947677 Premature ovarian failure 5 (POF5) 144,399,847(+) CCCGG(C/G/T)GATTC reference, missense
rs199538689 - 144,399,832(+) TTTTT(C/T)GCCAC reference, missense
rs112190116 - 144,399,065(+) AAGAT(C/T)GGCCC reference, missense
rs2525702 - 144,398,975(+) GGGGC(C/T)GTCCT reference, missense
rs2699503 - 144,398,507(-) GACCC(C/T)TCCAG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for NOBOX Gene

Variant ID Type Subtype PubMed ID
dgv6727n100 CNV loss 25217958
dgv6735n100 CNV gain 25217958
dgv6745n100 CNV loss 25217958
esv2759570 CNV gain+loss 17122850
nsv428188 CNV gain+loss 18775914
nsv7411 OTHER inversion 18451855
nsv831177 CNV loss 17160897

Variation tolerance for NOBOX Gene

Gene Damage Index Score: 8.28; 85.13% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NOBOX Gene

Human Gene Mutation Database (HGMD)
NOBOX
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NOBOX

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NOBOX Gene

Disorders for NOBOX Gene

MalaCards: The human disease database

(6) MalaCards diseases for NOBOX Gene - From: OMIM, ClinVar, GeneTests, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
premature ovarian failure 5
  • pof5
premature ovarian failure
  • hypergonadotropic hypogonadism
amenorrhea
  • absence of menstruation
ovarian cyst
  • ovarian cysts
female reproductive system disease
  • genital diseases, female
- elite association - COSMIC cancer census association via MalaCards
Search NOBOX in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NOBOX_HUMAN
  • Premature ovarian failure 5 (POF5) [MIM:611548]: An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. {ECO:0000269 PubMed:17701902, ECO:0000269 PubMed:21837770}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for NOBOX

Genetic Association Database (GAD)
NOBOX
Human Genome Epidemiology (HuGE) Navigator
NOBOX
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NOBOX
genes like me logo Genes that share disorders with NOBOX: view

No data available for Genatlas for NOBOX Gene

Publications for NOBOX Gene

  1. cDNA cloning and expression of the human NOBOX gene in oocytes and ovarian follicles. (PMID: 16597639) Huntriss J. … Picton H.M. (Mol. Hum. Reprod. 2006) 2 3 4 65
  2. Novel NOBOX loss-of-function mutations account for 6.2% of cases in a large primary ovarian insufficiency cohort. (PMID: 21837770) Bouilly J. … Binart N. (Hum. Mutat. 2011) 3 4 65
  3. Mutation analysis of NOBOX homeodomain in Chinese women with premature ovarian failure. (PMID: 18930203) Qin Y. … Chen Z.J. (Fertil. Steril. 2009) 3 46 65
  4. NOBOX homeobox mutation causes premature ovarian failure. (PMID: 17701902) Qin Y. … Rajkovic A. (Am. J. Hum. Genet. 2007) 3 4 65
  5. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier L.W. … Wilson R.K. (Nature 2003) 3 4 65

Products for NOBOX Gene

Sources for NOBOX Gene

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