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] See more...

Aliases for NOBOX Gene

Aliases for NOBOX Gene

  • NOBOX Oogenesis Homeobox 2 3 5
  • Homeobox Protein NOBOX 3 4
  • Newborn Ovary Homeobox-Encoding Gene 2
  • Newborn Ovary Homeobox-Encoding 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 Amenorrhea. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and RNA polymerase II proximal promoter sequence-specific DNA binding. An important paralog of this gene is ARX.

UniProtKB/Swiss-Prot Summary 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'.

Gene Wiki entry for NOBOX Gene

Additional gene information for NOBOX Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NOBOX Gene

Genomics for NOBOX Gene

GeneHancer (GH) Regulatory Elements for NOBOX Gene

Promoters and enhancers for NOBOX Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J144817 Enhancer 1 FANTOM5 Ensembl ENCODE 1.4 -409.7 -409673 6.6 EP300 RELA CEBPG NR3C1 BATF NR2F1 NFATC3 ATF4 HDGF TBX21 TPK1 NOBOX piR-57461-247 RF00017-6717
GH07J144407 Enhancer 0.6 Ensembl ENCODE 0.7 +2.3 2327 2.2 RFX1 CTBP1 FOS STAT3 ZNF335 MYC OR2A9P NOBOX lnc-ARHGEF5-1
GH07J144391 Enhancer 0.8 Ensembl ENCODE 0.4 +18.3 18326 1 CTCF REST RAD21 TRIM22 SMC3 FOXA2 ZNF513 FOXA1 ZNF654 FOXK2 OR2A1-AS1 OR2A20P ARHGEF34P lnc-ARHGEF5-1 NOBOX
GH07J144415 Enhancer 0.4 Ensembl ENCODE 0.4 -6.1 -6132 1.5 FOS piR-53063-240 piR-39098-257 OR2A1-AS1 ARHGEF34P NOBOX
GH07J144406 Enhancer 0.3 Ensembl 0.7 +3.8 3826 0.4 NFIC OR2A1-AS1 NOBOX lnc-ARHGEF5-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NOBOX on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NOBOX

Top Transcription factor binding sites by QIAGEN in the NOBOX gene promoter:
  • AREB6
  • C/EBPbeta
  • FOXF2
  • GATA-3
  • HNF-1
  • HNF-1A
  • Pax-4a
  • POU2F1
  • POU2F1a

Genomic Locations for NOBOX Gene

Genomic Locations for NOBOX Gene
chr7:144,396,914-144,410,227
(GRCh38/hg38)
Size:
13,314 bases
Orientation:
Minus strand
chr7:144,094,333-144,107,320
(GRCh37/hg19)
Size:
12,988 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

No data available for DME Specific Peptides for NOBOX Gene

Domains & Families for NOBOX Gene

Gene Families for NOBOX Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for NOBOX Gene

Suggested Antigen Peptide Sequences for NOBOX Gene

GenScript: Design optimal peptide antigens:
  • Homeobox protein NOBOX (NOBOX_HUMAN)
genes like me logo Genes that share domains with NOBOX: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for NOBOX Gene

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'.

Phenotypes From GWAS Catalog for NOBOX Gene

Gene Ontology (GO) - Molecular Function for NOBOX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISM 19274049
GO:0003677 DNA binding IEA --
GO:0043565 sequence-specific DNA binding IDA 27798098
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:
  • Nobox Nobox<tm1.1(KOMP)Vlcg>
  • Nobox Nobox<tm1Rajk>

miRNA for NOBOX Gene

miRTarBase miRNAs that target NOBOX

Clone 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NOBOX gene
Compartment Confidence
nucleus 4
extracellular 2
cytosol 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for NOBOX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with NOBOX: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for NOBOX Gene

Pathways & Interactions for NOBOX Gene

PathCards logo

SuperPathways for NOBOX Gene

No Data Available

Gene Ontology (GO) - Biological Process for NOBOX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006357 regulation of transcription by RNA polymerase II IDA 27798098
GO:0007275 multicellular organism development IEA --
GO:0030154 cell differentiation 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

1 REFSEQ mRNAs :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone 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

Expression for NOBOX Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 and MOPED for NOBOX Gene



Protein tissue co-expression partners for NOBOX Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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.

Phenotype-based relationships between genes and organs from Gene ORGANizer for NOBOX Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • endocrine
  • integumentary
  • nervous
  • reproductive
Regions:
Head and neck:
  • brain
  • head
  • pituitary gland
Thorax:
  • breast
Pelvis:
  • ovary
  • uterus
  • vagina
  • vulva
General:
  • hair
  • skin
genes like me logo Genes that share expression patterns with NOBOX: view

No data available for Evidence on tissue expression from TISSUES for NOBOX Gene

Orthologs for NOBOX Gene

This gene was present in the common ancestor of chordates.

Orthologs for NOBOX Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NOBOX 31 30
  • 99.13 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NOBOX 31 30
  • 75.76 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nobox 30
  • 73.33 (n)
mouse
(Mus musculus)
Mammalia Nobox 17 31 30
  • 70.26 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia NOBOX 31
  • 57 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NOBOX 31
  • 55 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NOBOX 31
  • 44 (a)
OneToOne
chicken
(Gallus gallus)
Aves NOBOX 31
  • 36 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NOBOX 31
  • 35 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia hbox10-A 30
zebrafish
(Danio rerio)
Actinopterygii nobox 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for NOBOX: view image

Paralogs for NOBOX Gene

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

  • NOBOX_HUMAN
  • H9KV25_HUMAN
genes like me logo Genes that share paralogs with NOBOX: view

Variants for NOBOX Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NOBOX Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
716086 Benign: not provided 144,397,549(-) G/T INTRON_VARIANT
723270 Likely Benign: not provided 144,398,397(-) C/T SYNONYMOUS_VARIANT
778355 Likely Benign: not provided 144,401,326(-) T/C SYNONYMOUS_VARIANT
791163 Benign: not provided 144,397,490(-) G/A MISSENSE_VARIANT
rs112190116 Likely Benign: Premature ovarian failure; not specified. Premature ovarian failure 5 (POF5) [MIM:611548] 144,399,065(-) C/Tp.Asp452Asn MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for NOBOX Gene

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)

Additional Variant Information for NOBOX Gene

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

SNP Genotyping and Copy Number Assay Products

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: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
premature ovarian failure 5
  • pof5
amenorrhea
  • absence of menstruation
premature ovarian failure 1
  • pof1
ovarian disease
  • ovarian dysfunction
46 xx gonadal dysgenesis
  • ovarian dysgenesis
- 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, ECO:0000269 PubMed:25514101, ECO:0000269 PubMed:27798098}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for NOBOX

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 HM (Molecular human reproduction 2006) 2 3 4 54
  2. Impaired protein stability and nuclear localization of NOBOX variants associated with premature ovarian insufficiency. (PMID: 27798098) Ferrari I … Rossetti R (Human molecular genetics 2016) 3 4 54
  3. New NOBOX mutations identified in a large cohort of women with primary ovarian insufficiency decrease KIT-L expression. (PMID: 25514101) Bouilly J … Binart N (The Journal of clinical endocrinology and metabolism 2015) 3 4 54
  4. 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 (Human mutation 2011) 3 4 54
  5. Mutation analysis of NOBOX homeodomain in Chinese women with premature ovarian failure. (PMID: 18930203) Qin Y … Chen ZJ (Fertility and sterility 2009) 3 41 54

Products for NOBOX Gene

Sources for NOBOX Gene