NOBOX NOBOX oogenesis homeobox [Homo sapiens (human)] - Gene

Summary

Official Symbol: NOBOXprovided by HGNC
Official Full Name: NOBOX oogenesis homeoboxprovided by HGNC
Primary source: HGNC:HGNC:22448
See related: Ensembl:ENSG00000106410 MIM:610934; AllianceGenome:HGNC:22448
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: OG2; OG-2; OG2X; POF5; TCAG_12042
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 by RefSeq, May 2011]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 7q35

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (144396900..144410227, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (145577071..145590391, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (144094333..144107320, complement)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

NOBOX gene variants in premature ovarian insufficiency: ethnicity-dependent insights.
Title: NOBOX gene variants in premature ovarian insufficiency: ethnicity-dependent insights.
Compound heterozygous null mutations of NOBOX in sisters with delayed puberty and primary amenorrhea.
Title: Compound heterozygous null mutations of NOBOX in sisters with delayed puberty and primary amenorrhea.
We report the first familial case of a novel homozygous NOBOX variant with an autosomal recessive mode of inheritance, thus allowing for a genetic diagnosis of primary ovarian failure
Title: A novel homozygous 1-bp deletion in the NOBOX gene in two Brazilian sisters with primary ovarian failure.
RSPO2 is a novel target gene of the NOBOX key transcription factor, confirming its important role during the follicular growth in ovary. However, RSPO2 mutations are rare or uncommon in women with primary ovarian insufficiency.
Title: R-spondin2, a novel target of NOBOX: identification of variants in a cohort of women with primary ovarian insufficiency.
One novel homozygous truncating variant, chr7:144098161delC, in the NOBOX gene was found in a primary ovarian insufficiency patient. The truncating variant showed a severe defect in transcriptional activation of GDF9 a well-known target of NOBOX. Many oocyte-related genes were expressed at lower level in truncating variant cells than in control cells. We found the truncated NOBOX lost its ability to induced G2/M arrest.
Title: A homozygous NOBOX truncating variant causes defective transcriptional activation and leads to primary ovarian insufficiency.
we report the identification of two novel and two recurrent heterozygous NOBOX variants in 7 out of 107 patients, with a prevalence of 6.5% (upper 95% confidence limit of 11.17%). Several variants conserve the ability to interact with FOXL2 in intracellular aggregates
Title: Impaired protein stability and nuclear localization of NOBOX variants associated with premature ovarian insufficiency.
Screening of NOBOX gene indicted three missense mutations (p.Arg117Trp; p.Gly91Trp and p.Pro619Leu) in eight patients with primary ovarian insufficiency.
Title: NOBOX is a strong autosomal candidate gene in Tunisian patients with primary ovarian insufficiency.
High prevalence of the association between the NOBOX rare variants and Primary ovarian insufficiency.
Title: New NOBOX mutations identified in a large cohort of women with primary ovarian insufficiency decrease KIT-L expression.
both NOBOX and FOXL2 are expressed in human follicle granulosa cells and their interaction plays an inhibitory role in the transcriptional response of these promoters.
Title: NOBOX is a key FOXL2 partner involved in ovarian folliculogenesis.
The very high 6.2% prevalence of these new mutations in POI patients suggest considering NOBOX as the first autosomal candidate gene involved in this syndrome.
Title: Novel NOBOX loss-of-function mutations account for 6.2% of cases in a large primary ovarian insufficiency cohort.

Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Premature ovarian failure 5 MedGen: C1969060 OMIM: 611548 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Large-scale genotyping identifies 41 new loci associated with breast cancer risk. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in oogenesis	IEA Inferred from Electronic Annotation more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of chromatin	ISA Inferred from Sequence Alignment more info
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: homeobox protein NOBOX

Names: newborn ovary homeobox-encoding

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_028979.1 RefSeqGene

Range

5001..17988

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001080413.3 → NP_001073882.3 homeobox protein NOBOX

See identical proteins and their annotated locations for NP_001073882.3

Status: VALIDATED

Source sequence(s)

AC004534

Consensus CDS

CCDS47736.2

UniProtKB/Swiss-Prot

A6NCD3, A8MZN5, O60393

UniProtKB/TrEMBL

A0A2R8Y264, A0A2R8YEW3

Related

ENSP00000419457.1, ENST00000467773.1

Conserved Domains (1) summary

cd00086
Location:273 → 363

homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.