NANOS3 nanos C2HC-type zinc finger 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NANOS3provided by HGNC
Official Full Name: nanos C2HC-type zinc finger 3provided by HGNC
Primary source: HGNC:HGNC:22048
See related: Ensembl:ENSG00000187556 MIM:608229; AllianceGenome:HGNC:22048
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: NOS3; NANOS1L; ZC2HC12C
Summary: Predicted to enable mRNA binding activity. Involved in germ cell development; negative regulation of translation; and positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay. Located in nucleus and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in testis (RPKM 1.4), brain (RPKM 1.0) and 7 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.12

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (13862036..13880757)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (13988190..14006913)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (13972850..13991571)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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?

Gene Alterations and Expression Spectrum of NANOS3 in Nonobstructive Azoospermia.
Title: Gene Alterations and Expression Spectrum of NANOS3 in Nonobstructive Azoospermia.
despite the prominent role of NANOS3 in ovarian development, our findings suggest that NANOS3 mutations were not associated with POF in the present cohort of Brazilian women.
Title: Mutation analysis of NANOS3 in Brazilian women with primary ovarian failure.
data can be used to further elucidate the role of NANOS3 and DAZL in germ cell development both in vitro and in vivo
Title: Over Expression of NANOS3 and DAZL in Human Embryonic Stem Cells.
NANOS3 has role in the acquisition of invasiveness by human lung tumour cells and propose a new mechanism of post-transcriptional regulation of epithelial-mesenchymal transition.
Title: The human NANOS3 gene contributes to lung tumour invasion by inducing epithelial-mesenchymal transition.
an inactivating missense mutation in NANOS3 has a role in primary ovarian insufficiency that involves increased primordial germ cell apoptosis during embryonic cell migration
Title: Homozygous inactivating mutation in NANOS3 in two sisters with primary ovarian insufficiency.
NANOS3 mutation is one possible cause of primary ovarian insufficiency.
Title: A NANOS3 mutation linked to protein degradation causes premature ovarian insufficiency.
NANOS3 modulates essential aspects of human germ cell development perhaps during the cell cycle.
Title: NANOS3 function in human germ cell development.
Report for the first time analysis of the NANOS3 gene in infertile males.
Title: NANOS3 gene mutations in men with isolated sterility phenotype.
Observational study of genotype prevalence. (HuGE Navigator)
Title: Mutation analysis of NANOS3 in 80 Chinese and 88 Caucasian women with premature ovarian failure.
Mutations in NANOS3 exons are rare in both Chinese and Caucasian women with premature ovarian failure.
Title: Mutation analysis of NANOS3 in 80 Chinese and 88 Caucasian women with premature ovarian failure.

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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

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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Markers

NoName (e-PCR)
- UniSTS:484658

NANOS3__7322 (e-PCR)
- UniSTS:466352

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables enzyme activator activity	IDA Inferred from Direct Assay more info	PubMed
enables mRNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in apoptotic signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in germ cell development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mRNA destabilization	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of apoptotic signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of translation	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of translation	IDA Inferred from Direct Assay more info	PubMed
involved_in oogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of cell cycle	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of translation	ISS Inferred from Sequence or Structural Similarity more info
involved_in spermatogenesis	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in P-body	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasmic stress granule	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
is_active_in perinuclear region of cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: nanos homolog 3

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.

mRNA and Protein(s)

NM_001098622.3 → NP_001092092.1 nanos homolog 3

See identical proteins and their annotated locations for NP_001092092.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the functional protein.

Source sequence(s)

AC020916, KF511254

Consensus CDS

CCDS42511.1

UniProtKB/Swiss-Prot

P60323, Q495E5

Related

ENSP00000341992.4, ENST00000339133.6

Conserved Domains (2) summary

pfam05741
Location:77 → 129

zf-nanos; Nanos RNA binding domain

cl25865
Location:24 → 74

Trypan_PARP; Procyclic acidic repetitive protein (PARP)

RNA

NR_146095.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate 5' exon structure, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.

Source sequence(s)

AC020916, CK821051

Related

ENST00000591727.1
NR_146096.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (3) uses an alternate 5' exon structure, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.

Source sequence(s)

AC020916, BM702754, CK821051
NR_146097.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (4) uses an alternate 5' exon structure, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.

Source sequence(s)

AC020916, CK821051