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NOBOX NOBOX oogenesis homeobox [ Homo sapiens (human) ]

Gene ID: 135935, updated on 23-Nov-2017
Official Symbol
NOBOXprovided by HGNC
Official Full Name
NOBOX oogenesis homeoboxprovided by HGNC
Primary source
HGNC:HGNC:22448
See related
Ensembl:ENSG00000106410 MIM:610934; Vega:OTTHUMG00000158051
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
Location:
7q35
Exon count:
10
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 7 NC_000007.14 (144396805..144410438, complement)
105 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 olfactory receptor family 2 subfamily A member 1 Neighboring gene Rho guanine nucleotide exchange factor 5 Neighboring gene RNA, U6atac small nuclear 40, pseudogene Neighboring gene thiamin pyrophosphokinase 1 Neighboring gene eukaryotic translation elongation factor 1 alpha 1 pseudogene 10

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Premature ovarian failure 5
MedGen: C1969060 OMIM: 611548 GeneReviews: Not available
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NHGRI GWAS Catalog

Description
Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
NHGRI GWA Catalog

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
multicellular organism development IEA
Inferred from Electronic Annotation
more info
 
oogenesis IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription from RNA polymerase II promoter IDA
Inferred from Direct Assay
more info
PubMed 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nucleus IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
homeobox protein NOBOX
Names
newborn ovary homeobox-encoding

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
    UniProtKB/Swiss-Prot
    O60393
    Related
    ENSP00000419457.1, OTTHUMP00000212589, ENST00000467773.1, OTTHUMT00000350095
    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: Homo sapiens Annotation Release 108

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p7 Primary Assembly

    Range
    144396805..144410438 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    UniProtKB/Swiss-Prot
    O60393
    Related
    ENSP00000419565.1, OTTHUMP00000212588, ENST00000483238.5, OTTHUMT00000350094

Alternate CHM1_1.1

Genomic

  1. NC_018918.2 Alternate CHM1_1.1

    Range
    144102822..144115800 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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