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NOBOX NOBOX oogenesis homeobox [ Homo sapiens (human) ]

Gene ID: 135935, updated on 2-Nov-2024

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
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Genomic context

See NOBOX in Genome Data Viewer
Location:
7q35
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (144396900..144410227, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (145577071..145590391, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (144094333..144107320, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene OR2A1 antisense RNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:144062707-144063275 Neighboring gene Rho guanine nucleotide exchange factor 5 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:144075440-144076639 Neighboring gene MPRA-validated peak6811 silencer Neighboring gene uncharacterized LOC124901817 Neighboring gene peptidylprolyl isomerase A pseudogene 83 Neighboring gene RNA, U6atac small nuclear 40, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General protein information

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

  1. NG_028979.1 RefSeqGene

    Range
    5001..17988
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001080413.3NP_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:273363
    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.

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    144396900..144410227 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017011742.3XP_016867231.1  homeobox protein NOBOX isoform X1

    UniProtKB/TrEMBL
    A0A2R8Y264, A0A2R8YEW3
    Related
    ENSP00000419565.1, ENST00000483238.5

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_018654715.1 Reference GRCh38.p14 PATCHES

    Range
    446367..459685 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054332178.1XP_054188153.1  homeobox protein NOBOX isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    145577071..145590391 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054357232.1XP_054213207.1  homeobox protein NOBOX isoform X1