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Gene: NEUROG3 (neurogenin 3) Homo sapiens

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Symbol:

NEUROG3

Name:

neurogenin 3

RGD ID:

1344822

HGNC Page

HGNC:13806

Description:

Enables DNA-binding transcription repressor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in negative regulation of transcription by RNA polymerase II and positive regulation of transcription by RNA polymerase II. Located in nucleus. Implicated in congenital malabsorptive diarrhea 4; glucose intolerance; and type 2 diabetes mellitus.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

Atoh5; bHLHa7; class A basic helix-loop-helix protein 7; Math4B; neurogenin-3; NGN-3; ngn3; protein atonal homolog 5

RGD Orthologs

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Neurog3 (neurogenin 3)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Neurog3 (neurogenin 3)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Neurog3 (neurogenin 3)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	NEUROG3 (neurogenin 3)	NCBI	Ortholog
Canis lupus familiaris (dog):	NEUROG3 (neurogenin 3)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Neurog3 (neurogenin 3)	NCBI	Ortholog
Sus scrofa (pig):	NEUROG3 (neurogenin 3)	HGNC	Ensembl, NCBI, OrthoDB
Chlorocebus sabaeus (green monkey):	NEUROG3 (neurogenin 3)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Neurog3 (neurogenin 3)	NCBI	Ortholog
Other homologs ²
Rattus norvegicus (Norway rat):	Nxf3 (nuclear RNA export factor 3)	HGNC	OMA
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Neurog3 (neurogenin 3)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Neurog3 (neurogenin 3)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	neurog3 (neurogenin 3)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Caenorhabditis elegans (roundworm):	ngn-1	Alliance	DIOPT (Ensembl Compara\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Drosophila melanogaster (fruit fly):	tap	Alliance	DIOPT (Ensembl Compara\|OrthoFinder\|OrthoInspector\|PANTHER\|SonicParanoid)
Xenopus tropicalis (tropical clawed frog):	neurog3	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	neurog3.S	Alliance	DIOPT (Xenbase)
Xenopus laevis (African clawed frog):	neurog3.L	Alliance	DIOPT (Xenbase)

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	10	69,571,485 - 69,573,422 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	10	69,571,698 - 69,573,422 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	10	71,331,454 - 71,333,178 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	10	71,001,797 - 71,003,128 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	10	71,001,796 - 71,003,128	NCBI
Celera	10	64,608,651 - 64,610,070 (-)	NCBI		Celera
Cytogenetic Map	10	q22.1	NCBI
HuRef	10	65,321,715 - 65,323,132 (-)	NCBI		HuRef
CHM1_1	10	71,613,524 - 71,614,943 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	10	70,439,446 - 70,441,420 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
NEUROG3	Human	Experimental Diabetes Mellitus		ISO	Neurog3 (Mus musculus)	2313774		RGD
NEUROG3	Human	glucose intolerance	susceptibility	IAGP		1601481	DNA:polymorphism:cds:p.S199F	RGD
NEUROG3	Human	hyperglycemia		ISO	Neurog3 (Mus musculus)	1642077	associated with Diabetes Mellitus and Experimental	RGD
NEUROG3	Human	type 2 diabetes mellitus		IAGP		2313775		RGD

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
NEUROG3	Human	congenital malabsorptive diarrhea 4		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Congenital malabsorptive diarrhea 4	ClinVar	PMID:25741868
NEUROG3	Human	congenital malabsorptive diarrhea 4		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Congenital malabsorptive diarrhea 4	ClinVar	PMID:16855267 more ...
NEUROG3	Human	congenital malabsorptive diarrhea 4		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Congenital malabsorptive diarrhea 4	ClinVar	PMID:25741868 and PMID:28492532
NEUROG3	Human	congenital malabsorptive diarrhea 4		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Congenital malabsorptive diarrhea 4	ClinVar
NEUROG3	Human	congenital malabsorptive diarrhea 4		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: ENTERIC ANENDOCRINOSIS	ClinVar	PMID:16855267 and PMID:25741868
NEUROG3	Human	congenital malabsorptive diarrhea 4		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Congenital malabsorptive diarrhea 4	ClinVar	PMID:24033266 more ...
NEUROG3	Human	genetic disease		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:25741868 and PMID:28492532
NEUROG3	Human	genetic disease		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:28492532
NEUROG3	Human	genetic disease		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
NEUROG3	Human	congenital malabsorptive diarrhea 4		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
NEUROG3	Human	congenital malabsorptive diarrhea 4		IAGP		7240710		OMIM

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
NEUROG3	Human	1,2-dimethylhydrazine	increases expression	ISO	Neurog3 (Mus musculus)	6480464	1 and 2-Dimethylhydrazine results in increased expression of NEUROG3 mRNA	CTD	PMID:22206623
NEUROG3	Human	2,3,7,8-tetrachlorodibenzodioxine	decreases expression	ISO	Neurog3 (Mus musculus)	6480464	Tetrachlorodibenzodioxin results in decreased expression of NEUROG3 mRNA	CTD	PMID:24058054
NEUROG3	Human	2,3,7,8-tetrachlorodibenzodioxine	affects expression	ISO	Neurog3 (Rattus norvegicus)	6480464	Tetrachlorodibenzodioxin affects the expression of NEUROG3 mRNA	CTD	PMID:22298810
NEUROG3	Human	3H-1,2-dithiole-3-thione	increases expression	ISO	Neurog3 (Rattus norvegicus)	6480464	1 and 2-dithiol-3-thione results in increased expression of NEUROG3 mRNA	CTD	PMID:19162173
NEUROG3	Human	aflatoxin B1	decreases expression	EXP		6480464	Aflatoxin B1 results in decreased expression of NEUROG3 mRNA	CTD	PMID:22100608 and PMID:32234424
NEUROG3	Human	all-trans-retinol	decreases expression	ISO	Neurog3 (Mus musculus)	6480464	Vitamin A results in decreased expression of NEUROG3 mRNA	CTD	PMID:30944279
NEUROG3	Human	ammonium chloride	affects expression	ISO	Neurog3 (Rattus norvegicus)	6480464	Ammonium Chloride affects the expression of NEUROG3 mRNA	CTD	PMID:16483693
NEUROG3	Human	atrazine	increases expression	EXP		6480464	Atrazine results in increased expression of NEUROG3 mRNA	CTD	PMID:22378314
NEUROG3	Human	benzo[a]pyrene	increases methylation	EXP		6480464	Benzo(a)pyrene results in increased methylation of NEUROG3 3' UTR more ...	CTD	PMID:27901495
NEUROG3	Human	benzo[a]pyrene	decreases expression	EXP		6480464	Benzo(a)pyrene results in decreased expression of NEUROG3 mRNA	CTD	PMID:32234424
NEUROG3	Human	bis(2-chloroethyl) sulfide	increases expression	ISO	Neurog3 (Mus musculus)	6480464	Mustard Gas results in increased expression of NEUROG3 mRNA	CTD	PMID:15674843
NEUROG3	Human	bisphenol A	decreases expression	ISO	Neurog3 (Rattus norvegicus)	6480464	bisphenol A results in decreased expression of NEUROG3 mRNA	CTD	PMID:25181051
NEUROG3	Human	bisphenol A	affects methylation	ISO	Neurog3 (Mus musculus)	6480464	bisphenol A affects the methylation of NEUROG3 promoter	CTD	PMID:27334623
NEUROG3	Human	bisphenol A	increases methylation	ISO	Neurog3 (Rattus norvegicus)	6480464	bisphenol A results in increased methylation of NEUROG3 gene	CTD	PMID:28505145
NEUROG3	Human	cadmium atom	multiple interactions	EXP		6480464	[Cadmium Chloride results in increased abundance of Cadmium] which results in decreased expression of NEUROG3 mRNA	CTD	PMID:35301059
NEUROG3	Human	cadmium dichloride	multiple interactions	EXP		6480464	[Cadmium Chloride results in increased abundance of Cadmium] which results in decreased expression of NEUROG3 mRNA	CTD	PMID:35301059
NEUROG3	Human	Cuprizon	decreases expression	ISO	Neurog3 (Rattus norvegicus)	6480464	Cuprizone results in decreased expression of NEUROG3 mRNA	CTD	PMID:27523638
NEUROG3	Human	diazinon	increases methylation	EXP		6480464	Diazinon results in increased methylation of NEUROG3 gene	CTD	PMID:22964155
NEUROG3	Human	disodium selenite	increases expression	EXP		6480464	Sodium Selenite results in increased expression of NEUROG3 mRNA	CTD	PMID:18175754
NEUROG3	Human	ethanol	affects expression	ISO	Neurog3 (Mus musculus)	6480464	Ethanol affects the expression of NEUROG3 mRNA	CTD	PMID:22198099
NEUROG3	Human	fonofos	increases methylation	EXP		6480464	Fonofos results in increased methylation of NEUROG3 promoter	CTD	PMID:22847954
NEUROG3	Human	imidacloprid	decreases expression	ISO	Neurog3 (Rattus norvegicus)	6480464	imidacloprid results in decreased expression of NEUROG3 mRNA	CTD	PMID:27782041
NEUROG3	Human	O-methyleugenol	decreases expression	EXP		6480464	methyleugenol results in decreased expression of NEUROG3 mRNA	CTD	PMID:32234424
NEUROG3	Human	paracetamol	affects expression	ISO	Neurog3 (Mus musculus)	6480464	Acetaminophen affects the expression of NEUROG3 mRNA	CTD	PMID:17562736
NEUROG3	Human	parathion	increases methylation	EXP		6480464	Parathion results in increased methylation of NEUROG3 promoter	CTD	PMID:22847954
NEUROG3	Human	resveratrol	multiple interactions	EXP		6480464	[Plant Extracts co-treated with Resveratrol] results in decreased expression of NEUROG3 mRNA	CTD	PMID:23557933
NEUROG3	Human	silver atom	increases expression	ISO	Neurog3 (Mus musculus)	6480464	Silver results in increased expression of NEUROG3 mRNA	CTD	PMID:27131904
NEUROG3	Human	silver(0)	increases expression	ISO	Neurog3 (Mus musculus)	6480464	Silver results in increased expression of NEUROG3 mRNA	CTD	PMID:27131904
NEUROG3	Human	sodium arsenite	multiple interactions	EXP		6480464	[sodium arsenite co-treated with monoisoamyl-2 and 3-dimercaptosuccinate] results in decreased expression of NEUROG3 mRNA	CTD	PMID:19615344
NEUROG3	Human	sodium arsenite	affects methylation	EXP		6480464	sodium arsenite affects the methylation of NEUROG3 gene	CTD	PMID:28589171
NEUROG3	Human	sodium arsenite	decreases expression	EXP		6480464	sodium arsenite results in decreased expression of NEUROG3 mRNA	CTD	PMID:19615344
NEUROG3	Human	sulforaphane	decreases expression	EXP		6480464	sulforaphane results in decreased expression of NEUROG3 mRNA	CTD	PMID:26833863
NEUROG3	Human	terbufos	increases methylation	EXP		6480464	terbufos results in increased methylation of NEUROG3 promoter	CTD	PMID:22847954
NEUROG3	Human	titanium dioxide	increases methylation	ISO	Neurog3 (Mus musculus)	6480464	titanium dioxide results in increased methylation of NEUROG3 gene	CTD	PMID:35295148
NEUROG3	Human	titanium dioxide	decreases methylation	ISO	Neurog3 (Mus musculus)	6480464	titanium dioxide results in decreased methylation of NEUROG3 promoter	CTD	PMID:35295148

Biological Process

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
NEUROG3	Human	axon development	involved_in	IBA	FB:FBgn0015550 more ...	150520179		GO_Central	GO_REF:0000033
NEUROG3	Human	cell differentiation	involved_in	IEA	UniProtKB-KW:KW-0221	150520179		UniProt	GO_REF:0000043
NEUROG3	Human	central nervous system development	involved_in	TAS		150520179	PMID:9000438	PINC	PMID:9000438
NEUROG3	Human	epithelial cell differentiation	acts_upstream_of_or_within	IEA	UniProtKB:P70661 and ensembl:ENSMUSP00000054054	150520179		Ensembl	GO_REF:0000107
NEUROG3	Human	forebrain development		ISO	Neurog3 (Rattus norvegicus)	9068941		RGD	PMID:9130143 and REF_RGD_ID:633362
NEUROG3	Human	forebrain development	involved_in	IEA	UniProtKB:F7EPK2 more ...	150520179		Ensembl	GO_REF:0000107
NEUROG3	Human	hindbrain development		ISO	Neurog3 (Rattus norvegicus)	9068941		RGD	PMID:9130143 and REF_RGD_ID:633362
NEUROG3	Human	hindbrain development	involved_in	IEA	UniProtKB:F7EPK2 more ...	150520179		Ensembl	GO_REF:0000107
NEUROG3	Human	negative regulation of transcription by RNA polymerase II	involved_in	IDA		150520179	PMID:14576336	NTNU_SB	PMID:14576336
NEUROG3	Human	nervous system development	involved_in	IEA	UniProtKB-KW:KW-0524	150520179		UniProt	GO_REF:0000043
NEUROG3	Human	nervous system development	involved_in	TAS		150520179	PMID:9000438	PINC	PMID:9000438
NEUROG3	Human	peripheral nervous system development	involved_in	TAS		150520179	PMID:9000438	PINC	PMID:9000438
NEUROG3	Human	positive regulation of cell differentiation		ISO	Neurog3 (Rattus norvegicus)	9068941		RGD	PMID:16514419 and REF_RGD_ID:1641813
NEUROG3	Human	positive regulation of cell differentiation	involved_in	IEA	UniProtKB:F7EPK2 more ...	150520179		Ensembl	GO_REF:0000107
NEUROG3	Human	positive regulation of DNA-templated transcription	involved_in	IEA	UniProtKB:P70661 and ensembl:ENSMUSP00000054054	150520179		Ensembl	GO_REF:0000107
NEUROG3	Human	positive regulation of DNA-templated transcription	involved_in	ISS	UniProtKB:P70661	150520179		UniProt	GO_REF:0000024
NEUROG3	Human	positive regulation of neuron differentiation		ISO	Neurog3 (Rattus norvegicus)	9068941		RGD	PMID:9238023 and REF_RGD_ID:1642078
NEUROG3	Human	positive regulation of neuron differentiation	involved_in	IEA	UniProtKB:F7EPK2 more ...	150520179		Ensembl	GO_REF:0000107
NEUROG3	Human	positive regulation of transcription by RNA polymerase II	involved_in	IDA		150520179	PMID:16511571	UniProt	PMID:16511571
NEUROG3	Human	positive regulation of transcription by RNA polymerase II	acts_upstream_of_or_within	IEA	UniProtKB:P70661 and ensembl:ENSMUSP00000054054	150520179		Ensembl	GO_REF:0000107
NEUROG3	Human	positive regulation of transcription by RNA polymerase II	involved_in	IBA	FB:FBgn0010433 more ...	150520179		GO_Central	GO_REF:0000033
NEUROG3	Human	regulation of dendrite morphogenesis	acts_upstream_of_or_within	IEA	UniProtKB:P70661 and ensembl:ENSMUSP00000054054	150520179		Ensembl	GO_REF:0000107
NEUROG3	Human	regulation of DNA-templated transcription		ISO	Neurog3 (Rattus norvegicus)	9068941		RGD	PMID:9130143 and REF_RGD_ID:633362
NEUROG3	Human	regulation of DNA-templated transcription	involved_in	IEA	UniProtKB:F7EPK2 more ...	150520179		Ensembl	GO_REF:0000107
NEUROG3	Human	sensory organ development	involved_in	IBA	FB:FBgn0003270 more ...	150520179		GO_Central	GO_REF:0000033
NEUROG3	Human	spinal cord development		ISO	Neurog3 (Rattus norvegicus)	9068941		RGD	PMID:9130143 and REF_RGD_ID:633362
NEUROG3	Human	spinal cord development	involved_in	IEA	UniProtKB:F7EPK2 more ...	150520179		Ensembl	GO_REF:0000107
NEUROG3	Human	transdifferentiation	involved_in	IEA	UniProtKB:P70661 and ensembl:ENSMUSP00000054054	150520179		Ensembl	GO_REF:0000107
NEUROG3	Human	transdifferentiation	involved_in	ISS	UniProtKB:P70661	150520179		UniProt	GO_REF:0000024

Cellular Component

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
NEUROG3	Human	chromatin	located_in	ISA	tfclass:1.2.3	150520179		NTNU_SB	GO_REF:0000113
NEUROG3	Human	nucleus	located_in	IEA	UniProtKB:P70661 and ensembl:ENSMUSP00000054054	150520179		Ensembl	GO_REF:0000107
NEUROG3	Human	nucleus	is_active_in	IBA	FB:FBgn0010433 more ...	150520179		GO_Central	GO_REF:0000033
NEUROG3	Human	nucleus	located_in	IDA		150520179	PMID:20807725	UniProt	PMID:20807725
NEUROG3	Human	nucleus	located_in	IEA	UniProtKB-KW:KW-0539	150520179		UniProt	GO_REF:0000043
NEUROG3	Human	nucleus	located_in	IEA	UniProtKB-SubCell:SL-0191	150520179		UniProt	GO_REF:0000044

Molecular Function

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
NEUROG3	Human	chromatin DNA binding	enables	ISS	UniProtKB:P70661	150520179		UniProt	GO_REF:0000024
NEUROG3	Human	chromatin DNA binding	enables	IEA	UniProtKB:P70661 and ensembl:ENSMUSP00000054054	150520179		Ensembl	GO_REF:0000107
NEUROG3	Human	DNA binding	enables	IEA	UniProtKB-KW:KW-0238	150520179		UniProt	GO_REF:0000043
NEUROG3	Human	DNA-binding transcription activator activity, RNA polymerase II-specific		ISO	Neurog3 (Rattus norvegicus)	9068941		RGD	PMID:9130143 and REF_RGD_ID:633362
NEUROG3	Human	DNA-binding transcription activator activity, RNA polymerase II-specific	enables	IEA	UniProtKB:F7EPK2 more ...	150520179		Ensembl	GO_REF:0000107
NEUROG3	Human	DNA-binding transcription activator activity, RNA polymerase II-specific	enables	ISS	UniProtKB:P70661	150520179		UniProt	GO_REF:0000024
NEUROG3	Human	DNA-binding transcription factor activity	enables	IEA	UniProtKB:P70661 and ensembl:ENSMUSP00000054054	150520179		Ensembl	GO_REF:0000107
NEUROG3	Human	DNA-binding transcription factor activity, RNA polymerase II-specific	enables	ISA	tfclass:1.2.3	150520179		NTNU_SB	GO_REF:0000113
NEUROG3	Human	DNA-binding transcription factor activity, RNA polymerase II-specific	enables	IBA	MGI:103239 more ...	150520179		GO_Central	GO_REF:0000033
NEUROG3	Human	DNA-binding transcription repressor activity, RNA polymerase II-specific	enables	IDA		150520179	PMID:14576336	NTNU_SB	PMID:14576336
NEUROG3	Human	double-stranded DNA binding		ISO	Neurog3 (Rattus norvegicus)	9068941		RGD	PMID:9130143 and REF_RGD_ID:633362
NEUROG3	Human	double-stranded DNA binding	enables	IEA	UniProtKB:F7EPK2 more ...	150520179		Ensembl	GO_REF:0000107
NEUROG3	Human	E-box binding	enables	IBA	MGI:107754 more ...	150520179		GO_Central	GO_REF:0000033
NEUROG3	Human	protein binding	enables	IPI	UniProtKB:Q99081-3	150520179	PMID:25910212 and PMID:28514442	IntAct	PMID:25910212 and PMID:28514442
NEUROG3	Human	protein binding	enables	IPI	UniProtKB:P15884-3 more ...	150520179	PMID:32296183	IntAct	PMID:32296183
NEUROG3	Human	protein binding	enables	IPI	UniProtKB:Q99081	150520179	PMID:31515488 and PMID:33961781	IntAct	PMID:31515488 and PMID:33961781
NEUROG3	Human	protein binding	enables	IPI	UniProtKB:Q04864 and UniProtKB:Q99081	150520179	PMID:25416956	IntAct	PMID:25416956
NEUROG3	Human	protein dimerization activity	enables	IEA	InterPro:IPR011598 and InterPro:IPR036638	150520179		InterPro	GO_REF:0000002
NEUROG3	Human	RNA polymerase II cis-regulatory region sequence-specific DNA binding	enables	IDA		150520179	PMID:14576336	NTNU_SB	PMID:14576336
NEUROG3	Human	RNA polymerase II cis-regulatory region sequence-specific DNA binding	enables	ISS	UniProtKB:P70661	150520179		UniProt	GO_REF:0000024
NEUROG3	Human	RNA polymerase II cis-regulatory region sequence-specific DNA binding	enables	IEA	UniProtKB:P70661 and ensembl:ENSMUSP00000054054	150520179		Ensembl	GO_REF:0000107
NEUROG3	Human	sequence-specific double-stranded DNA binding	enables	IEA	ARBA:ARBA00028376	150520179		UniProt	GO_REF:0000117

Imported Annotations - KEGG (archival)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
NEUROG3	Human	maturity-onset diabetes of the young pathway		IEA		6907045		KEGG	hsa:04950

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
NEUROG3	Human	Abnormal cellular phenotype		IAGP		8699517		HPO	ORPHA:83620
NEUROG3	Human	Autosomal recessive inheritance		IAGP		8699517		HPO	MIM:610370
NEUROG3	Human	Cholestatic liver disease		IAGP		8699517		HPO	ORPHA:83620
NEUROG3	Human	Dehydration		IAGP		8699517		HPO	ORPHA:83620
NEUROG3	Human	Dehydration		IAGP		8699517		HPO	MIM:610370
NEUROG3	Human	Diarrhea		IAGP		8699517		HPO	MIM:610370
NEUROG3	Human	Diarrhea		IAGP		8699517		HPO	ORPHA:83620
NEUROG3	Human	Failure to thrive		IAGP		8699517		HPO	MIM:610370
NEUROG3	Human	Hyperchloremic metabolic acidosis		IAGP		8699517		HPO	MIM:610370
NEUROG3	Human	Hyperchloremic metabolic acidosis		IAGP		8699517		HPO	ORPHA:83620
NEUROG3	Human	Malabsorption		IAGP		8699517		HPO	ORPHA:83620
NEUROG3	Human	Neonatal onset		IAGP		8699517		HPO	MIM:610370
NEUROG3	Human	Portal hypertension		IAGP		8699517		HPO	ORPHA:83620
NEUROG3	Human	Type I diabetes mellitus		IAGP		8699517		HPO	ORPHA:83620
NEUROG3	Human	Vomiting		IAGP		8699517		HPO	MIM:610370
NEUROG3	Human	Vomiting		IAGP		8699517		HPO	ORPHA:83620

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	Polymorphic variations in the neurogenic differentiation-1, neurogenin-3, and hepatocyte nuclear factor-1alpha genes contribute to glucose intolerance in a South Indian population.	Jackson AE, etal., Diabetes. 2004 Aug;53(8):2122-5.
3.	NEUROG3 variants and type 2 diabetes in Italians.	Milord E and Gragnoli C, Minerva Med. 2006 Oct;97(5):373-8.
4.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
5.	KEGG Annotation Import Pipeline	Pipeline to import KEGG annotations from KEGG into RGD
6.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
8.	RGD HPO Phenotype Annotation Pipeline	RGD automated import pipeline for human HPO-to-gene-to-disease annotations
9.	Islet cell differentiation in liver by combinatorial expression of transcription factors neurogenin-3, BETA2, and RIPE3b1.	Song YD, etal., Biochem Biophys Res Commun. 2007 Mar 9;354(2):334-9. Epub 2007 Jan 10.
10.	Gene Therapy with Neurogenin 3 and Betacellulin Reverses Major Metabolic Problems in Insulin-Deficient Diabetic Mice.	Yechoor V, etal., Endocrinology. 2009 Oct 9.

PMID:9000438	PMID:10677506	PMID:11206403	PMID:11246894	PMID:11270683	PMID:12403815	PMID:12477932	PMID:14576336	PMID:16511571	PMID:16855267	PMID:16873704	PMID:17922104
PMID:18072012	PMID:18093211	PMID:18210030	PMID:18461161	PMID:18854154	PMID:19274049	PMID:19307926	PMID:19336475	PMID:19538245	PMID:20668890	PMID:20807725	PMID:21099270
PMID:21378176	PMID:21739268	PMID:21814221	PMID:21873635	PMID:22266316	PMID:22606327	PMID:23349771	PMID:24134759	PMID:24493854	PMID:24925797	PMID:24969979	PMID:25120094
PMID:25416956	PMID:25650326	PMID:25910212	PMID:26288179	PMID:26345820	PMID:27068459	PMID:27615127	PMID:27836003	PMID:28402852	PMID:28441528	PMID:28457793	PMID:28514442
PMID:28940958	PMID:29096722	PMID:31178402	PMID:31341016	PMID:31515488	PMID:31638558	PMID:31805014	PMID:32065490	PMID:32296183	PMID:32694731	PMID:32741144	PMID:33878431
PMID:33961781	PMID:34352411	PMID:34373451	PMID:34550497	PMID:34566896	PMID:36149814	PMID:37117185

NEUROG3
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	10	69,571,485 - 69,573,422 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	10	69,571,698 - 69,573,422 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	10	71,331,454 - 71,333,178 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	10	71,001,797 - 71,003,128 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	10	71,001,796 - 71,003,128	NCBI
Celera	10	64,608,651 - 64,610,070 (-)	NCBI		Celera
Cytogenetic Map	10	q22.1	NCBI
HuRef	10	65,321,715 - 65,323,132 (-)	NCBI		HuRef
CHM1_1	10	71,613,524 - 71,614,943 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	10	70,439,446 - 70,441,420 (-)	NCBI		T2T-CHM13v2.0

Neurog3
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	10	61,968,869 - 61,970,542 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	10	61,968,869 - 61,970,542 (+)	Ensembl		GRCm39 Ensembl
GRCm38	10	62,133,090 - 62,134,763 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	10	62,133,090 - 62,134,763 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	10	61,595,838 - 61,597,511 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	10	61,528,447 - 61,530,120 (+)	NCBI		MGSCv36	mm8
Celera	10	63,235,605 - 63,237,278 (+)	NCBI		Celera
Cytogenetic Map	10	B4	NCBI
cM Map	10	32.35	NCBI

Neurog3
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	20	30,622,533 - 30,624,015 (+)	NCBI		GRCr8
mRatBN7.2	20	30,079,780 - 30,081,262 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	20	30,079,780 - 30,081,262 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	20	31,090,729 - 31,092,211 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	20	30,481,622 - 30,483,104 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	20	31,224,416 - 31,225,898 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	20	31,761,419 - 31,762,893 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	20	31,761,405 - 31,762,893 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	20	33,556,854 - 33,558,331 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	20	29,522,778 - 29,524,261 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	20	29,536,585 - 29,538,061 (+)	NCBI
Celera	20	31,503,365 - 31,504,847 (+)	NCBI		Celera
Cytogenetic Map	20	q11	NCBI

Neurog3
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0	NW_004955437	21,577,896 - 21,578,546 (+)	NCBI	ChiLan1.0	ChiLan1.0

NEUROG3
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	8	81,720,280 - 81,721,303 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	10	81,725,601 - 81,726,624 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	10	66,039,739 - 66,041,804 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	10	68,571,204 - 68,572,663 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	10	68,571,614 - 68,572,258 (-)	Ensembl	panpan1.1		panPan2

NEUROG3
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	4	20,654,824 - 20,657,816 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	4	20,656,791 - 20,657,438 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	4	20,784,524 - 20,787,459 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	4	20,926,422 - 20,929,357 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	4	20,928,319 - 20,928,966 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	4	20,825,760 - 20,828,692 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	4	21,030,322 - 21,033,256 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	4	21,374,244 - 21,377,179 (-)	NCBI		UU_Cfam_GSD_1.0

Neurog3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024407213	60,438,787 - 60,440,954 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936521	8,932,998 - 8,933,645 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936521	8,932,998 - 8,933,645 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

NEUROG3
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	14	72,604,467 - 72,606,360 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	14	72,604,203 - 72,606,362 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1

NEUROG3
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	9	61,743,562 - 61,746,884 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	9	61,744,332 - 61,744,979 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666048	22,483,580 - 22,484,779 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Neurog3
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla 1.0	NW_004624754	3,817,400 - 3,818,047 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in NEUROG3
132 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_020999.4(NEUROG3):c.319C>A (p.Arg107Ser)	single nucleotide variant	Congenital malabsorptive diarrhea 4 [RCV000005648]\|NEUROG3-related disorder [RCV003407280]	Chr10:69572725 [GRCh38] Chr10:71332481 [GRCh37] Chr10:10q22.1	pathogenic\|likely pathogenic
NM_020999.4(NEUROG3):c.278G>T (p.Arg93Leu)	single nucleotide variant	Congenital malabsorptive diarrhea 4 [RCV000005649]\|not provided [RCV001851676]	Chr10:69572766 [GRCh38] Chr10:71332522 [GRCh37] Chr10:10q22.1	pathogenic\|likely pathogenic
GRCh38/hg38 10q21.2-22.2(chr10:62229688-74468143)x1	copy number loss	See cases [RCV000052530]	Chr10:62229688..74468143 [GRCh38] Chr10:63989447..76227901 [GRCh37] Chr10:63659453..75897907 [NCBI36] Chr10:10q21.2-22.2	pathogenic
GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	copy number loss	See cases [RCV000052511]	Chr10:58436466..74415216 [GRCh38] Chr10:60196226..76174974 [GRCh37] Chr10:59866232..75844980 [NCBI36] Chr10:10q21.1-22.2	pathogenic
NM_020999.4(NEUROG3):c.499G>A (p.Gly167Arg)	single nucleotide variant	not provided [RCV001513798]\|not specified [RCV000117779]	Chr10:69572545 [GRCh38] Chr10:69572545..69572546 [GRCh38] Chr10:71332301 [GRCh37] Chr10:71332301..71332302 [GRCh37] Chr10:10q22.1	benign
NM_020999.4(NEUROG3):c.596T>C (p.Phe199Ser)	single nucleotide variant	Congenital malabsorptive diarrhea 4 [RCV001781451]\|not provided [RCV001512137]\|not specified [RCV000117780]	Chr10:69572448 [GRCh38] Chr10:71332204 [GRCh37] Chr10:10q22.1	benign\|likely benign\|conflicting interpretations of pathogenicity
GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	copy number gain	See cases [RCV000134848]	Chr10:42685306..73715908 [GRCh38] Chr10:43180754..75475666 [GRCh37] Chr10:42500760..75145672 [NCBI36] Chr10:10q11.21-22.2	pathogenic
GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3	copy number gain	See cases [RCV000135438]	Chr10:67196567..79422057 [GRCh38] Chr10:68956325..81181813 [GRCh37] Chr10:68626331..80851819 [NCBI36] Chr10:10q21.3-22.3	pathogenic
GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1	copy number loss	See cases [RCV000136658]	Chr10:63402579..75296099 [GRCh38] Chr10:65162339..77055857 [GRCh37] Chr10:64832345..76725863 [NCBI36] Chr10:10q21.3-22.2	pathogenic\|likely benign
GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	copy number gain	See cases [RCV000138007]	Chr10:50729367..87147204 [GRCh38] Chr10:52489127..88906961 [GRCh37] Chr10:52159133..88896941 [NCBI36] Chr10:10q11.23-23.2	pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	copy number gain	See cases [RCV000448750]	Chr10:93297..135378918 [GRCh37] Chr10:10p15.3-q26.3	pathogenic
NM_020999.4(NEUROG3):c.162C>A (p.Cys54Ter)	single nucleotide variant	Congenital malabsorptive diarrhea 4 [RCV000500630]\|not provided [RCV002527269]	Chr10:69572882 [GRCh38] Chr10:71332638 [GRCh37] Chr10:10q22.1	pathogenic\|uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	copy number gain	See cases [RCV000511389]	Chr10:100027..135427143 [GRCh37] Chr10:10p15.3-q26.3	pathogenic\|uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	copy number gain	See cases [RCV000510861]	Chr10:100027..135427143 [GRCh37] Chr10:10p15.3-q26.3	pathogenic
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	copy number loss	Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438]	Chr10:42347406..135534747 [GRCh37] Chr10:10q11.21-26.3	drug response
GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3	copy number gain	not provided [RCV000683289]	Chr10:69040366..93194993 [GRCh37] Chr10:10q21.3-23.32	pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3	copy number gain	not provided [RCV000749464]	Chr10:73232..135524321 [GRCh37] Chr10:10p15.3-q26.3	pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3	copy number gain	not provided [RCV000749465]	Chr10:98087..135477883 [GRCh37] Chr10:10p15.3-q26.3	pathogenic
NM_020999.4(NEUROG3):c.511T>A (p.Ser171Thr)	single nucleotide variant	not provided [RCV000892702]	Chr10:69572533 [GRCh38] Chr10:71332289 [GRCh37] Chr10:10q22.1	benign
NM_020999.4(NEUROG3):c.210G>A (p.Arg70=)	single nucleotide variant	not provided [RCV000925355]	Chr10:69572834 [GRCh38] Chr10:71332590 [GRCh37] Chr10:10q22.1	likely benign
NM_020999.4(NEUROG3):c.223T>C (p.Leu75=)	single nucleotide variant	not provided [RCV000903134]	Chr10:69572821 [GRCh38] Chr10:71332577 [GRCh37] Chr10:10q22.1	benign
NM_020999.4(NEUROG3):c.559T>A (p.Ser187Thr)	single nucleotide variant	Inborn genetic diseases [RCV003249425]	Chr10:69572485 [GRCh38] Chr10:71332241 [GRCh37] Chr10:10q22.1	uncertain significance
NM_020999.4(NEUROG3):c.432C>G (p.His144Gln)	single nucleotide variant	not provided [RCV003106665]	Chr10:69572612 [GRCh38] Chr10:71332368 [GRCh37] Chr10:10q22.1	uncertain significance
NM_020999.4(NEUROG3):c.394A>T (p.Ile132Phe)	single nucleotide variant	Congenital malabsorptive diarrhea 4 [RCV003446784]	Chr10:69572650 [GRCh38] Chr10:71332406 [GRCh37] Chr10:10q22.1	pathogenic\|likely pathogenic
NM_020999.4(NEUROG3):c.-1-44_-1-43del	deletion	not provided [RCV001640811]	Chr10:69573087..69573088 [GRCh38] Chr10:71332843..71332844 [GRCh37] Chr10:10q22.1	benign
NM_020999.4(NEUROG3):c.413C>G (p.Thr138Arg)	single nucleotide variant	Congenital malabsorptive diarrhea 4 [RCV001254820]	Chr10:69572631 [GRCh38] Chr10:71332387 [GRCh37] Chr10:10q22.1	uncertain significance
NM_020999.4(NEUROG3):c.540C>T (p.Gly180=)	single nucleotide variant	not provided [RCV001295075]	Chr10:69572504 [GRCh38] Chr10:71332260 [GRCh37] Chr10:10q22.1	likely benign\|uncertain significance
NM_020999.4(NEUROG3):c.44G>A (p.Arg15His)	single nucleotide variant	Inborn genetic diseases [RCV003263929]\|not provided [RCV001295544]	Chr10:69573000 [GRCh38] Chr10:71332756 [GRCh37] Chr10:10q22.1	likely benign\|uncertain significance
NM_020999.4(NEUROG3):c.260A>C (p.Lys87Thr)	single nucleotide variant	Inborn genetic diseases [RCV004651558]\|not provided [RCV001307222]	Chr10:69572784 [GRCh38] Chr10:71332540 [GRCh37] Chr10:10q22.1	uncertain significance
NM_020999.4(NEUROG3):c.181C>T (p.Leu61Phe)	single nucleotide variant	not provided [RCV001300000]	Chr10:69572863 [GRCh38] Chr10:71332619 [GRCh37] Chr10:10q22.1	uncertain significance
NM_020999.4(NEUROG3):c.46G>C (p.Glu16Gln)	single nucleotide variant	Inborn genetic diseases [RCV004036649]\|NEUROG3-related disorder [RCV004756219]\|not provided [RCV001351340]	Chr10:69572998 [GRCh38] Chr10:71332754 [GRCh37] Chr10:10q22.1	likely benign\|uncertain significance
NM_020999.4(NEUROG3):c.-142C>G	single nucleotide variant	not provided [RCV001716964]	Chr10:69573350 [GRCh38] Chr10:71333106 [GRCh37] Chr10:10q22.1	benign
NM_020999.4(NEUROG3):c.371C>G (p.Thr124Arg)	single nucleotide variant	Congenital malabsorptive diarrhea 4 [RCV001789608]	Chr10:69572673 [GRCh38] Chr10:71332429 [GRCh37] Chr10:10q22.1	pathogenic
NM_020999.4(NEUROG3):c.284G>C (p.Arg95Pro)	single nucleotide variant	Congenital malabsorptive diarrhea 4 [RCV001789609]	Chr10:69572760 [GRCh38] Chr10:71332516 [GRCh37] Chr10:10q22.1	pathogenic
NM_020999.4(NEUROG3):c.175A>C (p.Arg59=)	single nucleotide variant	not provided [RCV004809095]	Chr10:69572869 [GRCh38] Chr10:71332625 [GRCh37] Chr10:10q22.1	likely benign
NM_020999.4(NEUROG3):c.168G>T (p.Gly56=)	single nucleotide variant	not provided [RCV002042706]	Chr10:69572876 [GRCh38] Chr10:71332632 [GRCh37] Chr10:10q22.1	likely benign\|uncertain significance
NM_020999.4(NEUROG3):c.366C>G (p.Ile122Met)	single nucleotide variant	not provided [RCV002008559]	Chr10:69572678 [GRCh38] Chr10:71332434 [GRCh37] Chr10:10q22.1	uncertain significance
NM_020999.4(NEUROG3):c.353A>G (p.Lys118Arg)	single nucleotide variant	not provided [RCV001988335]	Chr10:69572691 [GRCh38] Chr10:71332447 [GRCh37] Chr10:10q22.1	uncertain significance
NM_020999.4(NEUROG3):c.535G>T (p.Ala179Ser)	single nucleotide variant	not provided [RCV001950396]	Chr10:69572509 [GRCh38] Chr10:71332265 [GRCh37] Chr10:10q22.1	uncertain significance
NM_020999.4(NEUROG3):c.609G>C (p.Leu203Phe)	single nucleotide variant	not provided [RCV002009100]	Chr10:69572435 [GRCh38] Chr10:71332191 [GRCh37] Chr10:10q22.1	uncertain significance
NM_020999.4(NEUROG3):c.107C>T (p.Pro36Leu)	single nucleotide variant	not provided [RCV001927383]	Chr10:69572937 [GRCh38] Chr10:71332693 [GRCh37] Chr10:10q22.1	uncertain significance
NM_020999.4(NEUROG3):c.502del (p.Asp168fs)	deletion	not provided [RCV002003901]	Chr10:69572542 [GRCh38] Chr10:71332298 [GRCh37] Chr10:10q22.1	uncertain significance
NM_020999.4(NEUROG3):c.406A>G (p.Thr136Ala)	single nucleotide variant	not provided [RCV002041753]	Chr10:69572638 [GRCh38] Chr10:71332394 [GRCh37] Chr10:10q22.1	uncertain significance
NM_020999.4(NEUROG3):c.496C>T (p.Pro166Ser)	single nucleotide variant	not provided [RCV002005889]	Chr10:69572548 [GRCh38] Chr10:71332304 [GRCh37] Chr10:10q22.1	uncertain significance
NM_020999.4(NEUROG3):c.53A>T (p.Glu18Val)	single nucleotide variant	not provided [RCV002001796]	Chr10:69572991 [GRCh38] Chr10:71332747 [GRCh37] Chr10:10q22.1	uncertain significance
GRCh37/hg19 10q22.1(chr10:71300271-71403717)	copy number loss	not specified [RCV002052876]	Chr10:71300271..71403717 [GRCh37] Chr10:10q22.1	uncertain significance
GRCh37/hg19 10q21.3-22.3(chr10:68735254-78885714)	copy number loss	not specified [RCV002052875]	Chr10:68735254..78885714 [GRCh37] Chr10:10q21.3-22.3	pathogenic
NM_020999.4(NEUROG3):c.56G>T (p.Arg19Leu)	single nucleotide variant	not provided [RCV002007771]	Chr10:69572988 [GRCh38] Chr10:71332744 [GRCh37] Chr10:10q22.1	uncertain significance
NM_020999.4(NEUROG3):c.392A>G (p.Tyr131Cys)	single nucleotide variant	Congenital malabsorptive diarrhea 4 [RCV002484884]\|not provided [RCV002007726]	Chr10:69572652 [GRCh38] Chr10:71332408 [GRCh37] Chr10:10q22.1	uncertain significance
NM_020999.4(NEUROG3):c.34C>A (p.Gln12Lys)	single nucleotide variant	not provided [RCV001986478]	Chr10:69573010 [GRCh38] Chr10:71332766 [GRCh37] Chr10:10q22.1	uncertain significance
NM_020999.4(NEUROG3):c.498del (p.Asp168fs)	deletion	not provided [RCV002041797]	Chr10:69572546 [GRCh38] Chr10:71332302 [GRCh37] Chr10:10q22.1	uncertain significance
NM_020999.4(NEUROG3):c.101C>A (p.Ser34Tyr)	single nucleotide variant	Inborn genetic diseases [RCV003355781]\|not provided [RCV002029397]	Chr10:69572943 [GRCh38] Chr10:71332699 [GRCh37] Chr10:10q22.1	uncertain significance
NM_020999.4(NEUROG3):c.514C>A (p.Leu172Ile)	single nucleotide variant	not provided [RCV001982381]	Chr10:69572530 [GRCh38] Chr10:71332286 [GRCh37] Chr10:10q22.1	uncertain significance
NM_020999.4(NEUROG3):c.367G>C (p.Glu123Gln)	single nucleotide variant	not provided [RCV001923495]	Chr10:69572677 [GRCh38] Chr10:71332433 [GRCh37] Chr10:10q22.1	uncertain significance
NM_020999.4(NEUROG3):c.359C>G (p.Thr120Ser)	single nucleotide variant	not provided [RCV001884930]	Chr10:69572685 [GRCh38] Chr10:71332441 [GRCh37] Chr10:10q22.1	uncertain significance
NM_020999.4(NEUROG3):c.257A>G (p.Lys86Arg)	single nucleotide variant	not provided [RCV001960965]	Chr10:69572787 [GRCh38] Chr10:71332543 [GRCh37] Chr10:10q22.1	uncertain significance
NM_020999.4(NEUROG3):c.251G>T (p.Arg84Leu)	single nucleotide variant	not provided [RCV001922471]	Chr10:69572793 [GRCh38] Chr10:71332549 [GRCh37] Chr10:10q22.1	uncertain significance
NM_020999.4(NEUROG3):c.32T>C (p.Val11Ala)	single nucleotide variant	not provided [RCV001974445]	Chr10:69573012 [GRCh38] Chr10:71332768 [GRCh37] Chr10:10q22.1	uncertain significance
NM_020999.4(NEUROG3):c.605G>T (p.Cys202Phe)	single nucleotide variant	not provided [RCV001934299]	Chr10:69572439 [GRCh38] Chr10:71332195 [GRCh37] Chr10:10q22.1	uncertain significance
NM_020999.4(NEUROG3):c.465C>G (p.His155Gln)	single nucleotide variant	not provided [RCV001936656]	Chr10:69572579 [GRCh38] Chr10:71332335 [GRCh37] Chr10:10q22.1	uncertain significance
NC_000010.10:g.(?_67680088)_(71332799_?)del	deletion	not provided [RCV001956019]	Chr10:67680088..71332799 [GRCh37] Chr10:10q21.3-22.1	pathogenic\|uncertain significance
NM_020999.4(NEUROG3):c.526G>C (p.Val176Leu)	single nucleotide variant	not provided [RCV001866810]	Chr10:69572518 [GRCh38] Chr10:71332274 [GRCh37] Chr10:10q22.1	uncertain significance
NM_020999.4(NEUROG3):c.212del (p.Pro71fs)	deletion	not provided [RCV001922061]	Chr10:69572832 [GRCh38] Chr10:71332588 [GRCh37] Chr10:10q22.1	pathogenic\|uncertain significance
NC_000010.10:g.(?_71332155)_(71332799_?)dup	duplication	not provided [RCV001958421]	Chr10:71332155..71332799 [GRCh37] Chr10:10q22.1	uncertain significance
NM_020999.4(NEUROG3):c.629T>C (p.Phe210Ser)	single nucleotide variant	not provided [RCV002036532]	Chr10:69572415 [GRCh38] Chr10:71332171 [GRCh37] Chr10:10q22.1	uncertain significance
NM_020999.4(NEUROG3):c.553G>T (p.Ala185Ser)	single nucleotide variant	not provided [RCV001981006]	Chr10:69572491 [GRCh38] Chr10:71332247 [GRCh37] Chr10:10q22.1	uncertain significance
NM_020999.4(NEUROG3):c.469G>A (p.Gly157Arg)	single nucleotide variant	not provided [RCV002026446]	Chr10:69572575 [GRCh38] Chr10:71332331 [GRCh37] Chr10:10q22.1	uncertain significance
NM_020999.4(NEUROG3):c.356T>G (p.Leu119Arg)	single nucleotide variant	not provided [RCV001923028]	Chr10:69572688 [GRCh38] Chr10:71332444 [GRCh37] Chr10:10q22.1	uncertain significance
NM_020999.4(NEUROG3):c.45T>C (p.Arg15=)	single nucleotide variant	not provided [RCV002185954]	Chr10:69572999 [GRCh38] Chr10:71332755 [GRCh37] Chr10:10q22.1	likely benign
NM_020999.4(NEUROG3):c.622C>T (p.Leu208=)	single nucleotide variant	not provided [RCV002169771]	Chr10:69572422 [GRCh38] Chr10:71332178 [GRCh37] Chr10:10q22.1	likely benign
NM_020999.4(NEUROG3):c.381C>T (p.Phe127=)	single nucleotide variant	not provided [RCV002085105]	Chr10:69572663 [GRCh38] Chr10:71332419 [GRCh37] Chr10:10q22.1	likely benign
NM_020999.4(NEUROG3):c.582G>T (p.Leu194=)	single nucleotide variant	not provided [RCV002072607]	Chr10:69572462 [GRCh38] Chr10:71332218 [GRCh37] Chr10:10q22.1	likely benign
NM_020999.4(NEUROG3):c.552C>T (p.Pro184=)	single nucleotide variant	not provided [RCV002115791]	Chr10:69572492 [GRCh38] Chr10:71332248 [GRCh37] Chr10:10q22.1	benign
NM_020999.4(NEUROG3):c.312C>T (p.Asp104=)	single nucleotide variant	not provided [RCV002152141]	Chr10:69572732 [GRCh38] Chr10:71332488 [GRCh37] Chr10:10q22.1	likely benign
NM_020999.4(NEUROG3):c.624G>C (p.Leu208=)	single nucleotide variant	not provided [RCV002176117]	Chr10:69572420 [GRCh38] Chr10:71332176 [GRCh37] Chr10:10q22.1	likely benign
NM_020999.4(NEUROG3):c.630C>T (p.Phe210=)	single nucleotide variant	not provided [RCV002099299]	Chr10:69572414 [GRCh38] Chr10:71332170 [GRCh37] Chr10:10q22.1	likely benign
NM_020999.4(NEUROG3):c.585G>A (p.Leu195=)	single nucleotide variant	Congenital malabsorptive diarrhea 4 [RCV002498258]\|not provided [RCV002219389]	Chr10:69572459 [GRCh38] Chr10:71332215 [GRCh37] Chr10:10q22.1	likely benign
NM_020999.4(NEUROG3):c.369G>A (p.Glu123=)	single nucleotide variant	not provided [RCV002184235]	Chr10:69572675 [GRCh38] Chr10:71332431 [GRCh37] Chr10:10q22.1	likely benign
NM_020999.4(NEUROG3):c.343G>C (p.Asp115His)	single nucleotide variant	Inborn genetic diseases [RCV003304660]	Chr10:69572701 [GRCh38] Chr10:71332457 [GRCh37] Chr10:10q22.1	uncertain significance
NM_020999.4(NEUROG3):c.425C>A (p.Ala142Glu)	single nucleotide variant	not provided [RCV002303558]	Chr10:69572619 [GRCh38] Chr10:71332375 [GRCh37] Chr10:10q22.1	uncertain significance
NM_020999.4(NEUROG3):c.98C>T (p.Thr33Met)	single nucleotide variant	not provided [RCV002866078]	Chr10:69572946 [GRCh38] Chr10:71332702 [GRCh37] Chr10:10q22.1	uncertain significance
NM_020999.4(NEUROG3):c.517T>C (p.Tyr173His)	single nucleotide variant	not provided [RCV002795013]	Chr10:69572527 [GRCh38] Chr10:71332283 [GRCh37] Chr10:10q22.1	uncertain significance
NM_020999.4(NEUROG3):c.102C>T (p.Ser34=)	single nucleotide variant	not provided [RCV002903217]	Chr10:69572942 [GRCh38] Chr10:71332698 [GRCh37] Chr10:10q22.1	likely benign
NM_020999.4(NEUROG3):c.128G>A (p.Arg43Gln)	single nucleotide variant	not provided [RCV002861419]	Chr10:69572916 [GRCh38] Chr10:71332672 [GRCh37] Chr10:10q22.1	uncertain significance
NM_020999.4(NEUROG3):c.191G>T (p.Arg64Leu)	single nucleotide variant	not provided [RCV002616199]	Chr10:69572853 [GRCh38] Chr10:71332609 [GRCh37] Chr10:10q22.1	uncertain significance
NM_020999.4(NEUROG3):c.58T>C (p.Ser20Pro)	single nucleotide variant	not provided [RCV002861278]	Chr10:69572986 [GRCh38] Chr10:71332742 [GRCh37] Chr10:10q22.1	uncertain significance
NM_020999.4(NEUROG3):c.185G>A (p.Arg62Gln)	single nucleotide variant	Inborn genetic diseases [RCV002905875]	Chr10:69572859 [GRCh38] Chr10:71332615 [GRCh37] Chr10:10q22.1	uncertain significance
NM_020999.4(NEUROG3):c.55C>A (p.Arg19=)	single nucleotide variant	not provided [RCV002953830]	Chr10:69572989 [GRCh38] Chr10:71332745 [GRCh37] Chr10:10q22.1	likely benign
NM_020999.4(NEUROG3):c.303G>T (p.Ser101=)	single nucleotide variant	not provided [RCV002866776]	Chr10:69572741 [GRCh38] Chr10:71332497 [GRCh37] Chr10:10q22.1	likely benign
NM_020999.4(NEUROG3):c.430C>T (p.His144Tyr)	single nucleotide variant	Inborn genetic diseases [RCV002869525]	Chr10:69572614 [GRCh38] Chr10:71332370 [GRCh37] Chr10:10q22.1	uncertain significance
NM_020999.4(NEUROG3):c.271C>G (p.Arg91Gly)	single nucleotide variant	not provided [RCV002736851]	Chr10:69572773 [GRCh38] Chr10:71332529 [GRCh37] Chr10:10q22.1	uncertain significance
NM_020999.4(NEUROG3):c.520T>C (p.Ser174Pro)	single nucleotide variant	not provided [RCV002756780]	Chr10:69572524 [GRCh38] Chr10:71332280 [GRCh37] Chr10:10q22.1	uncertain significance
NM_020999.4(NEUROG3):c.446T>C (p.Leu149Pro)	single nucleotide variant	not provided [RCV002785319]	Chr10:69572598 [GRCh38] Chr10:71332354 [GRCh37] Chr10:10q22.1	uncertain significance
NM_020999.4(NEUROG3):c.130G>A (p.Gly44Arg)	single nucleotide variant	Congenital malabsorptive diarrhea 4 [RCV004720372]\|not provided [RCV002909494]	Chr10:69572914 [GRCh38] Chr10:71332670 [GRCh37] Chr10:10q22.1	likely benign\|uncertain significance
NM_020999.4(NEUROG3):c.122G>A (p.Arg41His)	single nucleotide variant	not provided [RCV003018362]	Chr10:69572922 [GRCh38] Chr10:71332678 [GRCh37] Chr10:10q22.1	uncertain significance
NM_020999.4(NEUROG3):c.557C>T (p.Ala186Val)	single nucleotide variant	not provided [RCV002643790]	Chr10:69572487 [GRCh38] Chr10:71332243 [GRCh37] Chr10:10q22.1	uncertain significance
NM_020999.4(NEUROG3):c.228A>C (p.Ala76=)	single nucleotide variant	not provided [RCV002645595]	Chr10:69572816 [GRCh38] Chr10:71332572 [GRCh37] Chr10:10q22.1	likely benign
NM_020999.4(NEUROG3):c.369G>C (p.Glu123Asp)	single nucleotide variant	Inborn genetic diseases [RCV002892006]	Chr10:69572675 [GRCh38] Chr10:71332431 [GRCh37] Chr10:10q22.1	uncertain significance
NM_020999.4(NEUROG3):c.571C>T (p.Arg191Ter)	single nucleotide variant	not provided [RCV002643671]	Chr10:69572473 [GRCh38] Chr10:71332229 [GRCh37] Chr10:10q22.1	uncertain significance
NM_020999.4(NEUROG3):c.163C>G (p.Arg55Gly)	single nucleotide variant	Inborn genetic diseases [RCV002770661]\|not provided [RCV002805567]	Chr10:69572881 [GRCh38] Chr10:71332637 [GRCh37] Chr10:10q22.1	uncertain significance
NM_020999.4(NEUROG3):c.220G>T (p.Glu74Ter)	single nucleotide variant	not provided [RCV003025219]	Chr10:69572824 [GRCh38] Chr10:71332580 [GRCh37] Chr10:10q22.1	pathogenic\|uncertain significance
NM_020999.4(NEUROG3):c.572G>A (p.Arg191Gln)	single nucleotide variant	not provided [RCV002914695]	Chr10:69572472 [GRCh38] Chr10:71332228 [GRCh37] Chr10:10q22.1	uncertain significance
NM_020999.4(NEUROG3):c.476T>A (p.Leu159Gln)	single nucleotide variant	not provided [RCV003025065]	Chr10:69572568 [GRCh38] Chr10:71332324 [GRCh37] Chr10:10q22.1	uncertain significance
NM_020999.4(NEUROG3):c.556G>A (p.Ala186Thr)	single nucleotide variant	not provided [RCV002627546]	Chr10:69572488 [GRCh38] Chr10:71332244 [GRCh37] Chr10:10q22.1	uncertain significance
NM_020999.4(NEUROG3):c.539G>A (p.Gly180Asp)	single nucleotide variant	not provided [RCV002576967]	Chr10:69572505 [GRCh38] Chr10:71332261 [GRCh37] Chr10:10q22.1	uncertain significance
NM_020999.4(NEUROG3):c.418C>T (p.Arg140Cys)	single nucleotide variant	not provided [RCV002646588]	Chr10:69572626 [GRCh38] Chr10:71332382 [GRCh37] Chr10:10q22.1	uncertain significance
NM_020999.4(NEUROG3):c.156A>T (p.Gly52=)	single nucleotide variant	not provided [RCV002577563]	Chr10:69572888 [GRCh38] Chr10:71332644 [GRCh37] Chr10:10q22.1	likely benign
NM_020999.4(NEUROG3):c.81C>T (p.Asp27=)	single nucleotide variant	not provided [RCV002598084]	Chr10:69572963 [GRCh38] Chr10:71332719 [GRCh37] Chr10:10q22.1	likely benign
NM_020999.4(NEUROG3):c.117del (p.Thr40fs)	deletion	not provided [RCV002601691]	Chr10:69572927 [GRCh38] Chr10:71332683 [GRCh37] Chr10:10q22.1	pathogenic\|likely pathogenic
NM_020999.4(NEUROG3):c.538G>A (p.Gly180Ser)	single nucleotide variant	not provided [RCV002631142]	Chr10:69572506 [GRCh38] Chr10:71332262 [GRCh37] Chr10:10q22.1	uncertain significance
NM_020999.4(NEUROG3):c.571C>A (p.Arg191=)	single nucleotide variant	not provided [RCV002720612]	Chr10:69572473 [GRCh38] Chr10:71332229 [GRCh37] Chr10:10q22.1	likely benign
NM_020999.4(NEUROG3):c.164G>C (p.Arg55Pro)	single nucleotide variant	Inborn genetic diseases [RCV004958837]\|not provided [RCV002937812]	Chr10:69572880 [GRCh38] Chr10:71332636 [GRCh37] Chr10:10q22.1	uncertain significance
NM_020999.4(NEUROG3):c.315C>T (p.Ala105=)	single nucleotide variant	not provided [RCV002671537]	Chr10:69572729 [GRCh38] Chr10:71332485 [GRCh37] Chr10:10q22.1	likely benign
NM_020999.4(NEUROG3):c.577G>A (p.Gly193Arg)	single nucleotide variant	Inborn genetic diseases [RCV004066669]\|not provided [RCV002653064]	Chr10:69572467 [GRCh38] Chr10:71332223 [GRCh37] Chr10:10q22.1	uncertain significance
NM_020999.4(NEUROG3):c.451C>G (p.Pro151Ala)	single nucleotide variant	not provided [RCV002654042]	Chr10:69572593 [GRCh38] Chr10:71332349 [GRCh37] Chr10:10q22.1	uncertain significance
NM_020999.4(NEUROG3):c.44G>T (p.Arg15Leu)	single nucleotide variant	not provided [RCV002605059]	Chr10:69573000 [GRCh38] Chr10:71332756 [GRCh37] Chr10:10q22.1	uncertain significance
NM_020999.4(NEUROG3):c.494C>T (p.Ser165Phe)	single nucleotide variant	not provided [RCV002603035]	Chr10:69572550 [GRCh38] Chr10:71332306 [GRCh37] Chr10:10q22.1	uncertain significance
NM_020999.4(NEUROG3):c.514C>T (p.Leu172Phe)	single nucleotide variant	not provided [RCV002584747]	Chr10:69572530 [GRCh38] Chr10:71332286 [GRCh37] Chr10:10q22.1	uncertain significance
NM_020999.4(NEUROG3):c.191G>C (p.Arg64Pro)	single nucleotide variant	not provided [RCV002680719]	Chr10:69572853 [GRCh38] Chr10:71332609 [GRCh37] Chr10:10q22.1	uncertain significance
NM_020999.4(NEUROG3):c.221A>G (p.Glu74Gly)	single nucleotide variant	Congenital malabsorptive diarrhea 4 [RCV003133011]	Chr10:69572823 [GRCh38] Chr10:71332579 [GRCh37] Chr10:10q22.1	uncertain significance
NM_020999.4(NEUROG3):c.389A>G (p.Asn130Ser)	single nucleotide variant	Inborn genetic diseases [RCV003204983]	Chr10:69572655 [GRCh38] Chr10:71332411 [GRCh37] Chr10:10q22.1	uncertain significance
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	copy number gain	Distal trisomy 10q [RCV003319593]	Chr10:11138692..135427143 [GRCh37] Chr10:10p14-q26.3	pathogenic
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	copy number loss	Distal 10q deletion syndrome [RCV003319583]	Chr10:12829206..135427143 [GRCh37] Chr10:10p13-q26.3	pathogenic
NM_020999.4(NEUROG3):c.594C>A (p.Thr198=)	single nucleotide variant	not provided [RCV003826669]	Chr10:69572450 [GRCh38] Chr10:71332206 [GRCh37] Chr10:10q22.1	likely benign
GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	copy number gain	not provided [RCV003484798]	Chr10:42709645..100834951 [GRCh37] Chr10:10q11.21-24.2	pathogenic
NM_020999.4(NEUROG3):c.186G>A (p.Arg62=)	single nucleotide variant	not provided [RCV003689374]	Chr10:69572858 [GRCh38] Chr10:71332614 [GRCh37] Chr10:10q22.1	likely benign
NM_020999.4(NEUROG3):c.17C>G (p.Ser6Trp)	single nucleotide variant	not provided [RCV003827968]	Chr10:69573027 [GRCh38] Chr10:71332783 [GRCh37] Chr10:10q22.1	uncertain significance
NM_020999.4(NEUROG3):c.75G>A (p.Ser25=)	single nucleotide variant	not provided [RCV003660229]	Chr10:69572969 [GRCh38] Chr10:71332725 [GRCh37] Chr10:10q22.1	likely benign
NM_020999.4(NEUROG3):c.54G>A (p.Glu18=)	single nucleotide variant	not provided [RCV003687600]	Chr10:69572990 [GRCh38] Chr10:71332746 [GRCh37] Chr10:10q22.1	likely benign
NM_020999.4(NEUROG3):c.66C>T (p.Pro22=)	single nucleotide variant	not provided [RCV003661116]	Chr10:69572978 [GRCh38] Chr10:71332734 [GRCh37] Chr10:10q22.1	likely benign
NM_020999.4(NEUROG3):c.170C>T (p.Ala57Val)	single nucleotide variant	not provided [RCV003850398]	Chr10:69572874 [GRCh38] Chr10:71332630 [GRCh37] Chr10:10q22.1	uncertain significance
NM_020999.4(NEUROG3):c.192G>A (p.Arg64=)	single nucleotide variant	not provided [RCV003699502]	Chr10:69572852 [GRCh38] Chr10:71332608 [GRCh37] Chr10:10q22.1	likely benign
NM_020999.4(NEUROG3):c.320del (p.Arg107fs)	deletion	not provided [RCV003665690]	Chr10:69572724 [GRCh38] Chr10:71332480 [GRCh37] Chr10:10q22.1	pathogenic
NM_020999.4(NEUROG3):c.9T>C (p.Pro3=)	single nucleotide variant	not provided [RCV003667598]	Chr10:69573035 [GRCh38] Chr10:71332791 [GRCh37] Chr10:10q22.1	likely benign
NM_020999.4(NEUROG3):c.99G>A (p.Thr33=)	single nucleotide variant	not provided [RCV003550463]	Chr10:69572945 [GRCh38] Chr10:71332701 [GRCh37] Chr10:10q22.1	likely benign
NM_020999.4(NEUROG3):c.82G>T (p.Glu28Ter)	single nucleotide variant	not provided [RCV003557509]	Chr10:69572962 [GRCh38] Chr10:71332718 [GRCh37] Chr10:10q22.1	pathogenic
NM_020999.4(NEUROG3):c.581T>G (p.Leu194Arg)	single nucleotide variant	not provided [RCV003551998]	Chr10:69572463 [GRCh38] Chr10:71332219 [GRCh37] Chr10:10q22.1	uncertain significance
NM_020999.4(NEUROG3):c.387C>T (p.His129=)	single nucleotide variant	not provided [RCV003568626]	Chr10:69572657 [GRCh38] Chr10:71332413 [GRCh37] Chr10:10q22.1	likely benign
NM_020999.4(NEUROG3):c.468C>T (p.Cys156=)	single nucleotide variant	not provided [RCV003871130]	Chr10:69572576 [GRCh38] Chr10:71332332 [GRCh37] Chr10:10q22.1	likely benign
NM_020999.4(NEUROG3):c.318G>C (p.Leu106=)	single nucleotide variant	not provided [RCV003683661]	Chr10:69572726 [GRCh38] Chr10:71332482 [GRCh37] Chr10:10q22.1	likely benign
NM_020999.4(NEUROG3):c.466T>G (p.Cys156Gly)	single nucleotide variant	not provided [RCV003863598]	Chr10:69572578 [GRCh38] Chr10:71332334 [GRCh37] Chr10:10q22.1	uncertain significance
NM_020999.4(NEUROG3):c.402G>T (p.Ala134=)	single nucleotide variant	not provided [RCV003847338]	Chr10:69572642 [GRCh38] Chr10:71332398 [GRCh37] Chr10:10q22.1	likely benign
NM_020999.4(NEUROG3):c.63C>T (p.Phe21=)	single nucleotide variant	not provided [RCV003670703]	Chr10:69572981 [GRCh38] Chr10:71332737 [GRCh37] Chr10:10q22.1	likely benign
NM_020999.4(NEUROG3):c.622_623dup (p.Ala209fs)	duplication	not provided [RCV003845395]	Chr10:69572420..69572421 [GRCh38] Chr10:71332176..71332177 [GRCh37] Chr10:10q22.1	uncertain significance
NM_020999.4(NEUROG3):c.254G>T (p.Arg85Leu)	single nucleotide variant	Inborn genetic diseases [RCV004489370]	Chr10:69572790 [GRCh38] Chr10:71332546 [GRCh37] Chr10:10q22.1	uncertain significance
NM_020999.4(NEUROG3):c.-1-9C>T	single nucleotide variant	NEUROG3-related disorder [RCV003913894]	Chr10:69573053 [GRCh38] Chr10:71332809 [GRCh37] Chr10:10q22.1	benign
NM_020999.4(NEUROG3):c.213T>G (p.Pro71=)	single nucleotide variant	NEUROG3-related disorder [RCV003899859]	Chr10:69572831 [GRCh38] Chr10:71332587 [GRCh37] Chr10:10q22.1	likely benign
NM_020999.4(NEUROG3):c.110C>G (p.Pro37Arg)	single nucleotide variant	not provided [RCV004760225]		uncertain significance
NM_020999.4(NEUROG3):c.272G>A (p.Arg91His)	single nucleotide variant	Inborn genetic diseases [RCV004961662]	Chr10:69572772 [GRCh38] Chr10:71332528 [GRCh37] Chr10:10q22.1	uncertain significance
NM_020999.4(NEUROG3):c.322G>A (p.Gly108Ser)	single nucleotide variant	Inborn genetic diseases [RCV004961663]	Chr10:69572722 [GRCh38] Chr10:71332478 [GRCh37] Chr10:10q22.1	uncertain significance
NM_020999.4(NEUROG3):c.491G>T (p.Gly164Val)	single nucleotide variant	Inborn genetic diseases [RCV004961664]	Chr10:69572553 [GRCh38] Chr10:71332309 [GRCh37] Chr10:10q22.1	uncertain significance
NM_020999.4(NEUROG3):c.122G>T (p.Arg41Leu)	single nucleotide variant	Inborn genetic diseases [RCV004961665]	Chr10:69572922 [GRCh38] Chr10:71332678 [GRCh37] Chr10:10q22.1	likely benign
NM_020999.4(NEUROG3):c.410A>G (p.Gln137Arg)	single nucleotide variant	Congenital malabsorptive diarrhea 4 [RCV005000544]	Chr10:69572634 [GRCh38] Chr10:71332390 [GRCh37] Chr10:10q22.1	likely pathogenic
NM_020999.4(NEUROG3):c.554C>G (p.Ala185Gly)	single nucleotide variant	not provided [RCV005087163]	Chr10:69572490 [GRCh38] Chr10:71332246 [GRCh37] Chr10:10q22.1	uncertain significance
NM_020999.4(NEUROG3):c.576C>G (p.Pro192=)	single nucleotide variant	not provided [RCV005158424]	Chr10:69572468 [GRCh38] Chr10:71332224 [GRCh37] Chr10:10q22.1	likely benign
NM_020999.4(NEUROG3):c.248G>A (p.Ser83Asn)	single nucleotide variant	not provided [RCV005187242]	Chr10:69572796 [GRCh38] Chr10:71332552 [GRCh37] Chr10:10q22.1	uncertain significance
NM_020999.4(NEUROG3):c.579G>A (p.Gly193=)	single nucleotide variant	not provided [RCV005076027]	Chr10:69572465 [GRCh38] Chr10:71332221 [GRCh37] Chr10:10q22.1	likely benign
NM_020999.4(NEUROG3):c.48G>A (p.Glu16=)	single nucleotide variant	not provided [RCV005185133]	Chr10:69572996 [GRCh38] Chr10:71332752 [GRCh37] Chr10:10q22.1	likely benign
NM_020999.4(NEUROG3):c.498C>T (p.Pro166=)	single nucleotide variant	not provided [RCV005167380]	Chr10:69572546 [GRCh38] Chr10:71332302 [GRCh37] Chr10:10q22.1	likely benign
NM_020999.4(NEUROG3):c.42C>G (p.Thr14=)	single nucleotide variant	not provided [RCV005142754]	Chr10:69573002 [GRCh38] Chr10:71332758 [GRCh37] Chr10:10q22.1	likely benign
NM_020999.4(NEUROG3):c.567G>A (p.Glu189=)	single nucleotide variant	not provided [RCV005132265]	Chr10:69572477 [GRCh38] Chr10:71332233 [GRCh37] Chr10:10q22.1	likely benign
NM_020999.4(NEUROG3):c.171C>T (p.Ala57=)	single nucleotide variant	not provided [RCV005078202]	Chr10:69572873 [GRCh38] Chr10:71332629 [GRCh37] Chr10:10q22.1	likely benign
NM_020999.4(NEUROG3):c.474G>A (p.Glu158=)	single nucleotide variant	not provided [RCV005165990]	Chr10:69572570 [GRCh38] Chr10:71332326 [GRCh37] Chr10:10q22.1	likely benign
NM_020999.4(NEUROG3):c.555C>T (p.Ala185=)	single nucleotide variant	not provided [RCV005077532]	Chr10:69572489 [GRCh38] Chr10:71332245 [GRCh37] Chr10:10q22.1	likely benign
NM_020999.4(NEUROG3):c.30T>C (p.Thr10=)	single nucleotide variant	not provided [RCV005150858]	Chr10:69573014 [GRCh38] Chr10:71332770 [GRCh37] Chr10:10q22.1	likely benign
NM_020999.4(NEUROG3):c.594C>G (p.Thr198=)	single nucleotide variant	not provided [RCV005124482]	Chr10:69572450 [GRCh38] Chr10:71332206 [GRCh37] Chr10:10q22.1	likely benign

Predicted Target Of

	Summary Value
Count of predictions:	1076
Count of miRNA genes:	570
Interacting mature miRNAs:	623
Transcripts:	ENST00000242462
Prediction methods:	Microtar, Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
597034867	GWAS1130941_H	type 2 diabetes mellitus QTL GWAS1130941 (human)		0.000002	type 2 diabetes mellitus		10	69572545	69572546	Human
596963026	GWAS1082545_H	type 2 diabetes mellitus QTL GWAS1082545 (human)		6e-10	type 2 diabetes mellitus		10	69572545	69572546	Human
597602488	GWAS1659348_H	type 2 diabetes mellitus QTL GWAS1659348 (human)		5e-11	type 2 diabetes mellitus		10	69572545	69572546	Human
597270832	GWAS1366906_H	type 2 diabetes mellitus QTL GWAS1366906 (human)		2e-11	type 2 diabetes mellitus		10	69572545	69572546	Human
597299443	GWAS1395517_H	type 2 diabetes mellitus QTL GWAS1395517 (human)		6e-10	type 2 diabetes mellitus		10	69572545	69572546	Human
597272965	GWAS1369039_H	type 2 diabetes mellitus QTL GWAS1369039 (human)		5e-11	type 2 diabetes mellitus		10	69572545	69572546	Human
597057867	GWAS1153941_H	type 2 diabetes mellitus QTL GWAS1153941 (human)		3e-09	type 2 diabetes mellitus		10	69572545	69572546	Human

NEUROG3_4133

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	10	71,331,766 - 71,332,416	UniSTS	GRCh37
Build 36	10	71,001,772 - 71,002,422	RGD	NCBI36
Celera	10	64,608,626 - 64,609,276	RGD
HuRef	10	65,321,690 - 65,322,340	UniSTS

UniSTS:482136

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	10	71,332,113 - 71,332,993	UniSTS	GRCh37
Celera	10	64,608,973 - 64,609,853	UniSTS
HuRef	10	65,322,037 - 65,322,915	UniSTS

UniSTS:490304

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	10	71,331,979 - 71,333,049	UniSTS	GRCh37
Celera	10	64,608,839 - 64,609,909	UniSTS
HuRef	10	65,321,903 - 65,322,971	UniSTS

UniSTS:480863

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	10	71,332,037 - 71,333,034	UniSTS	GRCh37
Celera	10	64,608,897 - 64,609,894	UniSTS
HuRef	10	65,321,961 - 65,322,956	UniSTS

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	renal system	reproductive system	respiratory system	sensory system
853	1782	1020	1167	2509	795	1063	164	1085	93	917	3609	3633	5	2116	250	751	879	72


RefSeq Transcripts	NG_021321	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_020999	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017016280	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054365966	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AF234829	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ133776	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK313952	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL450311	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC069098	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC074938	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC074939	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC117488	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC126468	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471083	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068268	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	GQ904714	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KT584935	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000242462 ⟹ ENSP00000242462

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	10	69,571,698 - 69,573,422 (-)	Ensembl

RefSeq Acc Id:

NM_020999 ⟹ NP_066279

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	10	69,571,698 - 69,573,422 (-)	NCBI
GRCh37	10	71,331,791 - 71,333,210 (-)	ENTREZGENE
Build 36	10	71,001,797 - 71,003,128 (-)	NCBI Archive
HuRef	10	65,321,715 - 65,323,132 (-)	ENTREZGENE
CHM1_1	10	71,613,524 - 71,614,943 (-)	NCBI
T2T-CHM13v2.0	10	70,439,696 - 70,441,420 (-)	NCBI

Sequence:

show sequence

GCTCAGGAAATCCCTGCGGTCTCACCGCCGCGCCTCGAGAGAGAGCGTGACAGAGGCCTCGGACCCCATTCTCTCTTCTTTTCTCCTTTGGGGCTGGGGCAACTCCCAGGCGGGGGCGCCTGCAGCTC
AGCTGAACTTGGCGACCAGAAGCCCGCTGAGCTCCCCACGGCCCTCGCTGCTCATCGCTCTCTATTCTTTTGCGCCGGTAGAAAGGATGACGCCTCAACCCTCGGGTGCGCCCACTGTCCAAGTGACC
CGTGAGACGGAGCGGTCCTTCCCCAGAGCCTCGGAAGACGAAGTGACCTGCCCCACGTCCGCCCCGCCCAGCCCCACTCGCACACGGGGGAACTGCGCAGAGGCGGAAGAGGGAGGCTGCCGAGGGGC
CCCGAGGAAGCTCCGGGCACGGCGCGGGGGACGCAGCCGGCCTAAGAGCGAGTTGGCACTGAGCAAGCAGCGACGGAGTCGGCGAAAGAAGGCCAACGACCGCGAGCGCAATCGAATGCACAACCTCA
ACTCGGCACTGGACGCCCTGCGCGGTGTCCTGCCCACCTTCCCAGACGACGCGAAGCTCACCAAGATCGAGACGCTGCGCTTCGCCCACAACTACATCTGGGCGCTGACTCAAACGCTGCGCATAGCG
GACCACAGCTTGTACGCGCTGGAGCCGCCGGCGCCGCACTGCGGGGAGCTGGGCAGCCCAGGCGGTTCCCCCGGGGACTGGGGGTCCCTCTACTCCCCAGTCTCCCAGGCTGGCAGCCTGAGTCCCGC
CGCGTCGCTGGAGGAGCGACCCGGGCTGCTGGGGGCCACCTTTTCCGCCTGCTTGAGCCCAGGCAGTCTGGCTTTCTCAGATTTTCTGTGAAAGGACCTGTCTGTCGCTGGGCTGTGGGTGCTAAGGG
TAAGGGAGAGGGAGGGAGCCGGGAGCCGTAGAGGGTGGCCGACGGCGGCGGCCCTCAAAAGCACTTGTTCCTTCTGCTTCTCCCTGGCTGACCCCTGGCCGGCCCAGGCCTCCACGGGGGCGGCAGGC
TGGGTTCATTCCCCGGCCCTCCGAGCCGCGCCAACGCACGCAACCCTTGCTGCTGCCCGCGCGAAGTGGGCATTGCAAAGTGCGCTCATTTTAGGCCTCCTCTCTGCCACCACCCCATAATCTCATTC
AAAGAATACTAGAATGGTAGCACTACCCGGCCGGAGCCGCCCACCGTCTTGGGTCGCCCTACCCTCACTCAAGTCTGTCTGCCTCTCAGTCTCTTACCACCCCTCCTCCAATGTGATTCAATCCAATG
TTTGGTCTCTCAGCGCTTACTCCCCTTGCCTTGCTCCAAAGACGCTGCCGATCTGCTCTACTCCCAATCAGGTCCGGGATTTCAGGGCGCCTCACTCTGCCTTAAAGCCACGAAGGCGACCCTCTGCC
TTCTCCTCGTGCACTTTTCGGAGCCATTGCCCTCCCGGGGCGGAAGACCAGGCTGTGAACTGGGAAAGCGCTAGCCCGGCCAGGGAGCATCTCCCCAGCCTCCCTGCGAACTGCGCCTGAAACGTGAG
CTGCGCTGCAGGTGCCTGGAGCAC

hide sequence

RefSeq Acc Id:

XM_017016280 ⟹ XP_016871769

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	10	69,571,485 - 69,573,422 (-)	NCBI

Sequence:

show sequence

GCTGCTCAGGAAATCCCTGCGGTCTCACCGCCGCGCCTCGAGAGAGAGCGTGACAGAGGCCTCG
GACCCCATTCTCTCTTCTTTTCTCCTTTGGGGCTGGGGCAACTCCCAGGCGGGGGCGCCTGCAGCTCAGCTGAACTTGGCGACCAGAAGCCCGCTGAGCTCCCCACGGCCCTCGCTGCTCATCGCTCT
CTATTCTTTTGCGCCGGTAGAAAGCCTCGGAATCGCGGACTGCGCCCAGTGACGGACTCAAACTTACCCTTCCCTCTGACCCCGCCGTAGGATGACGCCTCAACCCTCGGGTGCGCCCACTGTCCAAG
TGACCCGTGAGACGGAGCGGTCCTTCCCCAGAGCCTCGGAAGACGAAGTGACCTGCCCCACGTCCGCCCCGCCCAGCCCCACTCGCACACGGGGGAACTGCGCAGAGGCGGAAGAGGGAGGCTGCCGA
GGGGCCCCGAGGAAGCTCCGGGCACGGCGCGGGGGACGCAGCCGGCCTAAGAGCGAGTTGGCACTGAGCAAGCAGCGACGGAGTCGGCGAAAGAAGGCCAACGACCGCGAGCGCAATCGAATGCACAA
CCTCAACTCGGCACTGGACGCCCTGCGCGGTGTCCTGCCCACCTTCCCAGACGACGCGAAGCTCACCAAGATCGAGACGCTGCGCTTCGCCCACAACTACATCTGGGCGCTGACTCAAACGCTGCGCA
TAGCGGACCACAGCTTGTACGCGCTGGAGCCGCCGGCGCCGCACTGCGGGGAGCTGGGCAGCCCAGGCGGTTCCCCCGGGGACTGGGGGTCCCTCTACTCCCCAGTCTCCCAGGCTGGCAGCCTGAGT
CCCGCCGCGTCGCTGGAGGAGCGACCCGGGCTGCTGGGGGCCACCTTTTCCGCCTGCTTGAGCCCAGGCAGTCTGGCTTTCTCAGATTTTCTGTGAAAGGACCTGTCTGTCGCTGGGCTGTGGGTGCT
AAGGGTAAGGGAGAGGGAGGGAGCCGGGAGCCGTAGAGGGTGGCCGACGGCGGCGGCCCTCAAAAGCACTTGTTCCTTCTGCTTCTCCCTGGCTGACCCCTGGCCGGCCCAGGCCTCCACGGGGGCGG
CAGGCTGGGTTCATTCCCCGGCCCTCCGAGCCGCGCCAACGCACGCAACCCTTGCTGCTGCCCGCGCGAAGTGGGCATTGCAAAGTGCGCTCATTTTAGGCCTCCTCTCTGCCACCACCCCATAATCT
CATTCAAAGAATACTAGAATGGTAGCACTACCCGGCCGGAGCCGCCCACCGTCTTGGGTCGCCCTACCCTCACTCAAGTCTGTCTGCCTCTCAGTCTCTTACCACCCCTCCTCCAATGTGATTCAATC
CAATGTTTGGTCTCTCAGCGCTTACTCCCCTTGCCTTGCTCCAAAGACGCTGCCGATCTGCTCTACTCCCAATCAGGTCCGGGATTTCAGGGCGCCTCACTCTGCCTTAAAGCCACGAAGGCGACCCT
CTGCCTTCTCCTCGTGCACTTTTCGGAGCCATTGCCCTCCCGGGGCGGAAGACCAGGCTGTGAACTGGGAAAGCGCTAGCCCGGCCAGGGAGCATCTCCCCAGCCTCCCTGCGAACTGCGCCTGAAAC
GTGAGCTGCGCTGCAGGTGCCTGGAGCACCGCGCATCTTTTTTTTTTAAATCTGTTTGTAAATTATATGATGCCTTTTGAAATCAATTTTGGTACAGTAAATTATATGGCCCCTCCCCTGTTTTACAC
ATTTGTATTTATTAATGAGATTTCACAGCAGGGAAAAGCCTATATTTTGTATATTAGATTATTTAGGGATTGCTGGATGAGATTTTAAGCCAATAAAAAAAAATGGACCTTCAAGAAGCCTTGGCAAG
ATGACTCCATTGTGTGTTGGGGAGAGGAGGG

hide sequence

RefSeq Acc Id:

XM_054365966 ⟹ XP_054221941

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	10	70,439,446 - 70,441,420 (-)	NCBI


Protein RefSeqs	NP_066279	(Get FASTA)	NCBI Sequence Viewer
	XP_016871769	(Get FASTA)	NCBI Sequence Viewer
	XP_054221941	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH69098	(Get FASTA)	NCBI Sequence Viewer
	AAH74938	(Get FASTA)	NCBI Sequence Viewer
	AAH74939	(Get FASTA)	NCBI Sequence Viewer
	AAI17489	(Get FASTA)	NCBI Sequence Viewer
	AAI26469	(Get FASTA)	NCBI Sequence Viewer
	AAK15022	(Get FASTA)	NCBI Sequence Viewer
	ADM86144	(Get FASTA)	NCBI Sequence Viewer
	BAG36669	(Get FASTA)	NCBI Sequence Viewer
	CAB45384	(Get FASTA)	NCBI Sequence Viewer
	EAW54328	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000242462
	ENSP00000242462.4
GenBank Protein	Q9Y4Z2	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_066279 ⟸ NM_020999

- UniProtKB:

Q6DJX6 (UniProtKB/Swiss-Prot), Q5VVI0 (UniProtKB/Swiss-Prot), Q9BY24 (UniProtKB/Swiss-Prot), Q9Y4Z2 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MTPQPSGAPTVQVTRETERSFPRASEDEVTCPTSAPPSPTRTRGNCAEAEEGGCRGAPRKLRARRGGRSRPKSELALSKQRRSRRKKANDRERNRMHNLNSALDALRGVLPTFPDDAKLTKIETLRFA
HNYIWALTQTLRIADHSLYALEPPAPHCGELGSPGGSPGDWGSLYSPVSQAGSLSPAASLEERPGLLGATFSACLSPGSLAFSDFL

hide sequence

RefSeq Acc Id:	XP_016871769 ⟸ XM_017016280
- Peptide Label:	isoform X1
- UniProtKB:	Q6DJX6 (UniProtKB/Swiss-Prot), Q5VVI0 (UniProtKB/Swiss-Prot), Q9BY24 (UniProtKB/Swiss-Prot), Q9Y4Z2 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MTPQPSGAPTVQVTRETERSFPRASEDEVTCPTSAPPSPTRTRGNCAEAEEGGCRGAPRKLRARRGGRSRPKSELALSKQRRSRRKKANDRERNRMHNLNSALDALRGVLPTFPDDAKLTKIETLRFA HNYIWALTQTLRIADHSLYALEPPAPHCGELGSPGGSPGDWGSLYSPVSQAGSLSPAASLEERPGLLGATFSACLSPGSLAFSDFL hide sequence

Ensembl Acc Id:

ENSP00000242462 ⟸ ENST00000242462

RefSeq Acc Id:	XP_054221941 ⟸ XM_054365966
- Peptide Label:	isoform X1
- UniProtKB:	Q9Y4Z2 (UniProtKB/Swiss-Prot), Q6DJX6 (UniProtKB/Swiss-Prot), Q5VVI0 (UniProtKB/Swiss-Prot), Q9BY24 (UniProtKB/Swiss-Prot)

Protein Domains

bHLH

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9Y4Z2-F1-model_v2	AlphaFold	Q9Y4Z2	1-214	view protein structure

RGD ID:

7217743

Promoter ID:

EPDNEW_H14617

Type:

initiation region

Name:

NEUROG3_1

Description:

neurogenin 3

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	10	69,573,422 - 69,573,482	EPDNEW

Database	Acc Id	Source(s)
COSMIC	NEUROG3	COSMIC
Ensembl Genes	ENSG00000122859	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000242462	ENTREZGENE
	ENST00000242462.5	UniProtKB/Swiss-Prot
Gene3D-CATH	4.10.280.10	UniProtKB/Swiss-Prot
GTEx	ENSG00000122859	GTEx
HGNC ID	HGNC:13806	ENTREZGENE
Human Proteome Map	NEUROG3	Human Proteome Map
InterPro	bHLH_dom	UniProtKB/Swiss-Prot
	bHLH_transcription_factors	UniProtKB/Swiss-Prot
	HLH_DNA-bd_sf	UniProtKB/Swiss-Prot
	Ngn3	UniProtKB/Swiss-Prot
KEGG Report	hsa:50674	UniProtKB/Swiss-Prot
NCBI Gene	50674	ENTREZGENE
OMIM	604882	OMIM
PANTHER	BASIC HELIX-LOOP-HELIX PROTEIN NEUROGENIN-RELATED	UniProtKB/Swiss-Prot
	PTHR19290:SF94	UniProtKB/Swiss-Prot
Pfam	HLH	UniProtKB/Swiss-Prot
PharmGKB	PA31571	PharmGKB
PROSITE	BHLH	UniProtKB/Swiss-Prot
SMART	HLH	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF47459	UniProtKB/Swiss-Prot
UniProt	E0X9P2_HUMAN	UniProtKB/TrEMBL
	NGN3_HUMAN	UniProtKB/Swiss-Prot
	Q5VVI0	ENTREZGENE
	Q6DJX6	ENTREZGENE
	Q9BY24	ENTREZGENE
	Q9Y4Z2	ENTREZGENE
UniProt Secondary	Q5VVI0	UniProtKB/Swiss-Prot
	Q6DJX6	UniProtKB/Swiss-Prot
	Q9BY24	UniProtKB/Swiss-Prot

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailable


InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailable


Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

Imported Annotations - KEGG (archival)

Imported Human Phenotype Annotations - HPO

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

Imported Annotations - KEGG (archival)

Imported Human Phenotype Annotations - HPO