NEUROG3 neurogenin 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NEUROG3provided by HGNC
Official Full Name: neurogenin 3provided by HGNC
Primary source: HGNC:HGNC:13806
See related: Ensembl:ENSG00000122859 MIM:604882; AllianceGenome:HGNC:13806
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ngn3; Atoh5; NGN-3; Math4B; bHLHa7
Summary: The protein encoded by this gene is a basic helix-loop-helix (bHLH) transcription factor involved in neurogenesis. The encoded protein likely acts as a heterodimer with another bHLH protein. Defects in this gene are a cause of congenital malabsorptive diarrhea 4 (DIAR4).[provided by RefSeq, May 2010]
Expression: Biased expression in duodenum (RPKM 1.5), small intestine (RPKM 0.6) and 2 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10q22.1

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (69571485..69573422, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (70439446..70441420, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (71331454..71333178, complement)

Chromosome 10 - NC_000010.11 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?

USP7 controls NGN3 stability and pancreatic endocrine lineage development.
Title: USP7 controls NGN3 stability and pancreatic endocrine lineage development.
Novel Variants and Phenotypes in NEUROG3-Associated Syndrome.
Title: Novel Variants and Phenotypes in NEUROG3-Associated Syndrome.
Extensive NEUROG3 occupancy in the human pancreatic endocrine gene regulatory network.
Title: Extensive NEUROG3 occupancy in the human pancreatic endocrine gene regulatory network.
Gene Signatures of NEUROGENIN3+ Endocrine Progenitor Cells in the Human Pancreas.
Title: Gene Signatures of NEUROGENIN3+ Endocrine Progenitor Cells in the Human Pancreas.
Recognition of maturity-onset diabetes of the young in China.
Title: Recognition of maturity-onset diabetes of the young in China.
Effect of NEUROG3 polymorphism rs144643855 on regional spontaneous brain activity in major depressive disorder.
Title: Effect of NEUROG3 polymorphism rs144643855 on regional spontaneous brain activity in major depressive disorder.
Protein Production and Purification of a Codon-Optimized Human NGN3 Transcription Factor from E. coli.
Title: Protein Production and Purification of a Codon-Optimized Human NGN3 Transcription Factor from E. coli.
Null mutations of NEUROG3 are associated with delayed-onset diabetes mellitus.
Title: Null mutations of NEUROG3 are associated with delayed-onset diabetes mellitus.
Reversible expansion of pancreatic islet progenitors derived from human induced pluripotent stem cells.
Title: Reversible expansion of pancreatic islet progenitors derived from human induced pluripotent stem cells.
PTEN and BMI1 help mediate NEUROGENIN-3-induced cell cycle arrest
Title: The cellular regulators PTEN and BMI1 help mediate NEUROGENIN-3-induced cell cycle arrest.

Submit: New GeneRIF Correction See all GeneRIFs (45)

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
Congenital malabsorptive diarrhea 4 MedGen: C1835888 OMIM: 610370 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of neurogenin 3 (NEUROG3) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1	PubMed

Go to the HIV-1, Human Interaction Database

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:490304

NoName (e-PCR)
- UniSTS:482136

NoName (e-PCR)
- UniSTS:480863

NEUROG3_4133 (e-PCR)
- UniSTS:463268

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	ISS Inferred from Sequence or Structural Similarity more info
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 DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables E-box binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables chromatin DNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein dimerization activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in axon development	IBA Inferred from Biological aspect of Ancestor more info
involved_in central nervous system development	TAS Traceable Author Statement more info	PubMed
involved_in epithelial cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in forebrain development	IBA Inferred from Biological aspect of Ancestor more info
involved_in hindbrain development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in nervous system development	TAS Traceable Author Statement more info	PubMed
involved_in peripheral nervous system development	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of DNA-templated transcription	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of neuron differentiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of dendrite morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in sensory organ development	IBA Inferred from Biological aspect of Ancestor more info
involved_in spinal cord development	IEA Inferred from Electronic Annotation more info
involved_in transdifferentiation	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
part_of chromatin	ISA Inferred from Sequence Alignment more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: neurogenin-3

Names: class A basic helix-loop-helix protein 7; protein atonal homolog 5

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_021321.1 RefSeqGene

Range

5033..6757

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_020999.4 → NP_066279.2 neurogenin-3

See identical proteins and their annotated locations for NP_066279.2

Status: REVIEWED

Source sequence(s)

AK313952, AL450311, BC069098

Consensus CDS

CCDS31212.1

UniProtKB/Swiss-Prot

Q5VVI0, Q6DJX6, Q9BY24, Q9Y4Z2

Related

ENSP00000242462.4, ENST00000242462.5

Conserved Domains (1) summary

cd00083
Location:81 → 140

HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000010.11 Reference GRCh38.p14 Primary Assembly

Range

69571485..69573422 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017016280.2 → XP_016871769.1 neurogenin-3 isoform X1

UniProtKB/Swiss-Prot

Q5VVI0, Q6DJX6, Q9BY24, Q9Y4Z2

Conserved Domains (1) summary

cd00083
Location:81 → 140

HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...