NEUROG1

Summary

NEUROG1 (neurogenin 1, HGNC:7764) is a protein-coding gene on chromosome 5q31.1, encoding Neurogenin-1 (Q92886). Acts as a transcriptional regulator.

Enables E-box binding activity and protein homodimerization activity. Involved in several processes, including cochlea morphogenesis; cranial nerve development; and hard palate morphogenesis. Predicted to be located in chromatin. Predicted to be active in nucleus.

Source: NCBI Gene 4762 — RefSeq curated summary.

At a glance

• Gene–disease (curated): cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay (Strong, GenCC)
• Clinical variants (ClinVar): 45 total — 2 pathogenic, 2 likely-pathogenic
• Phenotypes (HPO): 28
• Transcription factor: yes — 16 downstream targets (CollecTRI)
• MANE Select transcript: NM_006161

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:7764
Approved symbol	NEUROG1
Name	neurogenin 1
Location	5q31.1
Locus type	gene with protein product
Status	Approved
Aliases	AKA, Math4C, ngn1, bHLHa6
Ensembl gene	ENSG00000181965
Ensembl biotype	protein_coding
OMIM	601726
Entrez	4762

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000314744

RefSeq mRNA: 1 — MANE Select: NM_006161 NM_006161

CCDS: CCDS4187

Canonical transcript exons

ENST00000314744 — 1 exons

Exon	Start	End
ENSE00001253137	135534282	135535964

Expression profiles

Bgee: expression breadth broad, 13 present calls, max score 82.82.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 2.6747 / max 980.1116, expressed in 136 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
63543	2.6101	134
63542	0.0355	5
63544	0.0291	7

Top tissues by expression

279 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
ganglionic eminence	UBERON:0004023	82.82	gold quality
ventricular zone	UBERON:0003053	80.16	gold quality
embryo	UBERON:0000922	72.71	gold quality
diaphragm	UBERON:0001103	72.38	gold quality
vastus lateralis	UBERON:0001379	65.51	gold quality
quadriceps femoris	UBERON:0001377	64.51	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	63.72	gold quality
cardiac muscle of right atrium	UBERON:0003379	62.05	gold quality
left ventricle myocardium	UBERON:0006566	61.26	gold quality
mucosa of paranasal sinus	UBERON:0005030	58.82	gold quality
gluteal muscle	UBERON:0002000	58.46	gold quality
triceps brachii	UBERON:0001509	58.27	gold quality
pancreatic ductal cell	CL:0002079	57.02	silver quality
myocardium	UBERON:0002349	56.55	gold quality
pericardium	UBERON:0002407	56.33	gold quality
deltoid	UBERON:0001476	56.00	gold quality
heart right ventricle	UBERON:0002080	55.91	gold quality
buccal mucosa cell	CL:0002336	55.80	gold quality
decidua	UBERON:0002450	54.90	gold quality
skeletal muscle tissue	UBERON:0001134	54.60	gold quality
muscle tissue	UBERON:0002385	54.29	gold quality
nasal cavity epithelium	UBERON:0005384	54.25	gold quality
cranial nerve II	UBERON:0000941	54.11	silver quality
pigmented layer of retina	UBERON:0001782	52.85	gold quality
germinal epithelium of ovary	UBERON:0001304	52.41	gold quality
Brodmann (1909) area 46	UBERON:0006483	51.17	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	50.96	gold quality
epithelial cell of pancreas	CL:0000083	50.68	gold quality
hair follicle	UBERON:0002073	50.11	gold quality
cortical plate	UBERON:0005343	49.73	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.98

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

16 targets.

Target	Regulation
ASCL1	Activation
ATOH1	Unknown
BTBD6	Activation
CBLIF
CHRD	Repression
DLL1	Activation
LGR5	Activation
NEUROD1	Activation
NEUROD2	Activation
NEUROG2	Unknown
PCSK6	Repression
PKM	Activation
PROK2	Activation
SOX2
TH	Activation
VSX2	Repression

JASPAR motifs

Motif	Name	Family
MA0623.2	NEUROG1	Tal-related

JASPAR matrix evidence (PMIDs): PMID:23332764

Upstream regulators (CollecTRI, top): ASCL1, ATOH1, CHD8, CTNNB1, DMRTA1, DMRTA2, EZH2, HES1, HES5, LEF1, NEUROG3, OLIG3, RBPJ, SOX1, TCF7L1

miRNA regulators (miRDB)

71 targeting NEUROG1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-9-3P	99.96	70.88	2068
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-454-3P	99.91	74.01	1925
HSA-MIR-130A-3P	99.90	73.31	1861
HSA-MIR-130B-3P	99.90	73.27	1850
HSA-MIR-301A-3P	99.90	73.15	1839
HSA-MIR-301B-3P	99.90	73.19	1836
HSA-MIR-3666	99.90	73.24	1833
HSA-MIR-4295	99.90	73.11	1838
HSA-MIR-106A-5P	99.90	73.94	2683
HSA-MIR-17-5P	99.89	73.83	2665
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-106B-5P	99.88	74.72	2795
HSA-MIR-20A-5P	99.88	74.76	2769
HSA-MIR-20B-5P	99.88	74.01	2621
HSA-MIR-519D-3P	99.88	73.97	2607
HSA-MIR-93-5P	99.88	73.98	2606
HSA-MIR-526B-3P	99.88	74.06	2587
HSA-MIR-5003-3P	99.85	69.29	2517
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-6875-3P	99.82	70.26	2983
HSA-MIR-4659A-3P	99.80	72.62	4248
HSA-MIR-4659B-3P	99.80	72.62	4248
HSA-MIR-548AJ-5P	99.78	71.12	3085
HSA-MIR-548F-5P	99.78	71.02	3093

Literature-anchored findings (GeneRIF, showing 12)

• Overexpression of the full-length Ngn1 induced neurite outgrowth in F11 cells in the absence of cAMP (PMID:12526089)
• These results, along with a priori evidence for the involvement of neurog1 in neurodevelopment, suggest that variants in neurog1 might have a small effect on susceptibility to schizophrenia. (PMID:17044100)
• Major alleles on two NEUROG1-associated SNPs (rs2344484-C-allele and rs8192558-G-allele) were significantly more prevalent among patients. this is the first study to examine brain morphological and neurocognitive correlates of NEUROG1. (PMID:18799289)
• Stable expression of a single gene Ngn1 in F3 cells induces not simply neurogenic but multifunctional changes that potentially affect the differentiation of human NSC via a reorganization of complex gene regulatory networks. (PMID:19813087)
• The basic helix-loop-helix region of human neurogenin 1 is a monomeric natively unfolded protein which forms a “fuzzy” complex upon DNA binding. (PMID:20102160)
• NEUROG1 gene is frequently found in patients, diagnosed with colorectal cancer. (PMID:21326223)
• Methylation of NEUROG1 is associated with recurrence following adjuvant FOLFOX in Stages II/III colorectal cancer. (PMID:23034738)
• We propose NEUROG1 as a new gene for syndromic autosomal recessive hearing loss and congenital cranial dysinnervation disorder (PMID:23419067)
• Results show that neurogenin-1 and -2 drive homogeneous differentiation of human stem cells into bipolar neurons in 4 days in defined media. (PMID:25403753)
• mutation not found in group of children with sensorineural hearing loss (PMID:26634621)
• NeuroD1 seemed not sufficient to induce and maintain neuronal differentiation. Induction of neuronal differentiation by overexpression of Neurog1 initiated important steps for the development of glutamatergic neurons such as the spiral ganglion neurons (PMID:27423984)
• Adding evidence to the role of NEUROG1 in congenital cranial dysinnervation disorders. (PMID:33439489)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
mus_musculus	Neurog1	ENSMUSG00000048904
rattus_norvegicus	Neurog1	ENSRNOG00000022405
drosophila_melanogaster	amos	FBGN0003270
drosophila_melanogaster	ato	FBGN0010433
drosophila_melanogaster	tap	FBGN0015550
caenorhabditis_elegans		WBGENE00003018
caenorhabditis_elegans		WBGENE00003595

Paralogs (15): NEUROG3 (ENSG00000122859), NEUROD4 (ENSG00000123307), BHLHE23 (ENSG00000125533), NEUROD1 (ENSG00000162992), NEUROD6 (ENSG00000164600), ATOH8 (ENSG00000168874), NEUROD2 (ENSG00000171532), ATOH1 (ENSG00000172238), OLIG3 (ENSG00000177468), NEUROG2 (ENSG00000178403), ATOH7 (ENSG00000179774), BHLHA15 (ENSG00000180535), BHLHE22 (ENSG00000180828), OLIG1 (ENSG00000184221), OLIG2 (ENSG00000205927)

Protein

Protein identifiers

Neurogenin-1 — Q92886 (reviewed: Q92886)

Alternative names: Class A basic helix-loop-helix protein 6, Neurogenic basic-helix-loop-helix protein, Neurogenic differentiation factor 3

All UniProt accessions (2): Q92886, F1T0H3

UniProt curated annotations — full annotation on UniProt →

Function. Acts as a transcriptional regulator. Involved in the initiation of neuronal differentiation. Activates transcription by binding to the E box (5’-CANNTG-3’). Associates with chromatin to enhancer regulatory elements in genes encoding key transcriptional regulators of neurogenesis.

Subunit / interactions. Efficient DNA binding requires dimerization with another bHLH protein.

Subcellular location. Nucleus.

Tissue specificity. Expression restricted to the embryonic nervous system.

Disease relevance. Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay (CCDDRD) [MIM:620469] An autosomal recessive form of congenital cranial dysinnervation disorder. This term defines a heterogeneous group of neurodevelopmental disorders caused by a primary disturbance of innervation due to deficient, absent, or misguided cranial nerves. CCDDRD is characterized by developmental delay, corneal opacity, absent corneal reflex, expressionless face with asymmetry, sensorineural hearing loss, trigeminal nerve hypoplasia, and bilateral agenesis or severe hypoplasia of the VIII nerve with marked atresia of the internal auditory canals and cochlear labyrinth malformation. Additional features include hypotonia, impaired intellectual development, and behavioral abnormalities. The disease may be caused by variants affecting the gene represented in this entry.

RefSeq proteins (1): NP_006152* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR011598	bHLH_dom	Domain
IPR036638	HLH_DNA-bd_sf	Homologous_superfamily
IPR050359	bHLH_transcription_factors	Family

Pfam: PF00010

UniProt features (9 total): region of interest 2, compositionally biased region 2, sequence variant 2, chain 1, domain 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q92886-F1	66.55	0.29

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 327 (showing top): GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_UP, RNGTGGGC_UNKNOWN, GOBP_DIGESTION, BENPORATH_ES_WITH_H3K27ME3, GOBP_COGNITION, GOBP_AXIS_SPECIFICATION, GOBP_BEHAVIOR, PAX4_01, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, GGGNRMNNYCAT_UNKNOWN, GOBP_EMBRYONIC_AXIS_SPECIFICATION, NKX25_02, TGCACTT_MIR519C_MIR519B_MIR519A, LFA1_Q6, TTTGTAG_MIR520D

GO Biological Process (34): regulation of transcription by RNA polymerase II (GO:0006357), thorax and anterior abdomen determination (GO:0007356), nervous system development (GO:0007399), sensory organ development (GO:0007423), exit from mitosis (GO:0010458), trigeminal nerve development (GO:0021559), vestibulocochlear nerve formation (GO:0021650), peristalsis (GO:0030432), forebrain development (GO:0030900), auditory behavior (GO:0031223), positive regulation of exit from mitosis (GO:0031536), genitalia morphogenesis (GO:0035112), inner ear morphogenesis (GO:0042472), cell fate commitment (GO:0045165), positive regulation of neuron differentiation (GO:0045666), positive regulation of transcription by RNA polymerase II (GO:0045944), regulation of muscle organ development (GO:0048634), genitalia development (GO:0048806), inner ear development (GO:0048839), neuromuscular process controlling balance (GO:0050885), obsolete positive regulation of DNA-binding transcription factor activity (GO:0051091), axon development (GO:0061564), mastication (GO:0071626), cochlea development (GO:0090102), cochlea morphogenesis (GO:0090103), craniofacial suture morphogenesis (GO:0097094), learned vocalization behavior (GO:0098583), negative regulation of relaxation of muscle (GO:1901078), negative regulation of saliva secretion (GO:1905747), hard palate morphogenesis (GO:1905748), neurogenesis (GO:0022008), cell differentiation (GO:0030154), neuron differentiation (GO:0030182), regulation of neuron differentiation (GO:0045664)

GO Molecular Function (9): DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA binding (GO:0003677), chromatin binding (GO:0003682), DNA-binding transcription factor activity (GO:0003700), protein homodimerization activity (GO:0042803), E-box binding (GO:0070888), sequence-specific double-stranded DNA binding (GO:1990837), protein binding (GO:0005515), protein dimerization activity (GO:0046983)

GO Cellular Component (4): chromatin (GO:0000785), nucleus (GO:0005634), perikaryon (GO:0043204), neuronal cell body (GO:0043025)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of DNA-templated transcription	2
transcription by RNA polymerase II	2
animal organ development	2
anatomical structure development	2
regulation of transcription by RNA polymerase II	2
binding	2
cellular anatomical structure	2
zygotic determination of anterior/posterior axis, embryo	1
anterior/posterior pattern specification	1
system development	1
mitotic cell cycle phase transition	1
mitotic nuclear division	1
cranial nerve development	1
cranial nerve formation	1
vestibulocochlear nerve morphogenesis	1
phasic smooth muscle contraction	1
brain development	1
mechanosensory behavior	1
response to auditory stimulus	1
regulation of exit from mitosis	1
exit from mitosis	1
positive regulation of mitotic cell cycle phase transition	1
developmental process involved in reproduction	1
animal organ morphogenesis	1
genitalia development	1
ear morphogenesis	1
embryonic morphogenesis	1
inner ear development	1
cell differentiation	1
cellular developmental process	1
neuron differentiation	1
positive regulation of cell differentiation	1
regulation of neuron differentiation	1
positive regulation of DNA-templated transcription	1
muscle organ development	1
regulation of developmental process	1
sex differentiation	1
reproductive structure development	1
ear development	1
musculoskeletal movement	1

Protein interactions and networks

STRING

1694 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
NEUROG1	POU4F1	Q01851	910
NEUROG1	ASCL1	P50553	870
NEUROG1	CACNA1G	O43497	808
NEUROG1	CRABP1	P29762	735
NEUROG1	RUNX3	Q13761	728
NEUROG1	SHH	Q15465	714
NEUROG1	LHX2	P50458	714
NEUROG1	ISL1	P20663	713
NEUROG1	SOCS1	O15524	694
NEUROG1	LHX1	P48742	677
NEUROG1	PAX6	P26367	664
NEUROG1	IGF2	P01344	662
NEUROG1	MLH1	P40692	659
NEUROG1	SOX3	P35714	655
NEUROG1	NKX2-2	O95096	653

IntAct

22 interactions, top by confidence:

A	B	Type	Score
TCF4	NEUROG1	psi-mi:“MI:0915”(physical association)	0.740
NEUROG1	TCF4	psi-mi:“MI:0915”(physical association)	0.740
NEUROG1	TCF12	psi-mi:“MI:0915”(physical association)	0.560
CRYAA	NEUROG1	psi-mi:“MI:0915”(physical association)	0.560
DYNC1H1	NEUROG1	psi-mi:“MI:0915”(physical association)	0.560
NEUROG1	KLK6	psi-mi:“MI:0915”(physical association)	0.560
NEUROG1	CCDC85C	psi-mi:“MI:0914”(association)	0.530
RUNX1T1	NEUROG1	psi-mi:“MI:0915”(physical association)	0.370
NEUROG1	TARBP2	psi-mi:“MI:0915”(physical association)	0.370
NEUROG1	CBFA2T2	psi-mi:“MI:0915”(physical association)	0.370
NEUROG1	POTEF	psi-mi:“MI:0914”(association)	0.350
NEUROG1	PPM1B	psi-mi:“MI:0914”(association)	0.350
NEUROG1	TCF12	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (22): TCF4 (Two-hybrid), NEUROG1 (Reconstituted Complex), NEUROG1 (Reconstituted Complex), NEUROG1 (Affinity Capture-Western), CREBBP (Phenotypic Suppression), SMAD1 (Phenotypic Suppression), EP300 (Phenotypic Enhancement), SMAD1 (Phenotypic Enhancement), NEUROG1 (Two-hybrid), TCF3 (Affinity Capture-MS), CCDC85C (Affinity Capture-MS), TCF12 (Affinity Capture-MS), POTEF (Affinity Capture-MS), NES (Affinity Capture-MS), TCF4 (Affinity Capture-MS)

ESM2 similar proteins: A0A1W2PRP0, A6NCS4, A7Y7W2, O14512, O43638, O57601, O70220, O96004, P07812, P09023, P10085, P10284, P17483, P22091, P24899, P50548, P52954, P52955, P55318, P57100, P63156, P63157, P70447, P79772, P97832, Q02346, Q05917, Q0VCE2, Q12952, Q1XID0, Q28555, Q3I5G5, Q3Y598, Q60688, Q61660, Q63244, Q63250, Q64279, Q64305, Q64731

Diamond homologs: A8E5T6, B6VQA1, O13125, O13126, O16867, O35437, O42202, O42606, O43680, O57598, O60682, O73615, O73823, O88940, O93507, O96004, O96642, P13903, P17542, P22091, P24899, P26687, P46581, P48985, P48987, P57100, P57101, P57102, P59101, P61295, P61296, P70661, P79765, P79782, P97831, P97832, Q02575, Q02576, Q02577, Q0VCE2

SIGNOR signaling

7 interactions.

A	Effect	B	Mechanism
NEUROG3	“up-regulates quantity by expression”	NEUROG1	“transcriptional regulation”
MAPK7	“up-regulates activity”	NEUROG1	phosphorylation
HES1	“down-regulates quantity by repression”	NEUROG1	“transcriptional regulation”
HES5	“down-regulates quantity by repression”	NEUROG1	“transcriptional regulation”
NEUROG1	up-regulates	Neurogenesis
NEUROG1	“up-regulates quantity by expression”	NEUROD2	“transcriptional regulation”
CHD8	“down-regulates quantity”	NEUROG1	“transcriptional regulation”

Disease & clinical

Clinical variants and AI predictions

ClinVar

45 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	2
Uncertain significance	38
Likely benign	2
Benign	1

Top pathogenic / likely-pathogenic (4)

Variant ID	HGVS	Classification
2575912	NM_006161.3(NEUROG1):c.347G>T (p.Arg116Leu)	Pathogenic
2575913	NM_006161.3(NEUROG1):c.202G>T (p.Glu68Ter)	Pathogenic
1300181	NM_006161.3(NEUROG1):c.228_231dup (p.Thr78fs)	Likely pathogenic
4526418	NM_006161.3(NEUROG1):c.298C>A (p.Arg100Ser)	Likely pathogenic

SpliceAI

143 predictions. Top by Δscore:

Variant	Effect	Δscore
5:135535710:G:T	acceptor_gain	0.9500
5:135535709:C:CT	acceptor_gain	0.9100
5:135535779:A:AC	donor_gain	0.7400
5:135535780:C:CC	donor_gain	0.7400
5:135535602:T:TA	donor_gain	0.7200
5:135535805:CT:C	donor_gain	0.6900
5:135535780:CGTT:C	donor_gain	0.6700
5:135535779:ACGTT:A	donor_gain	0.6500
5:135535780:CGTTC:C	donor_gain	0.6500
5:135535700:G:C	acceptor_gain	0.6000
5:135535482:T:A	donor_gain	0.5700
5:135535706:GACC:G	acceptor_gain	0.5600
5:135535707:ACC:A	acceptor_gain	0.5600
5:135535709:C:A	acceptor_gain	0.5500
5:135535696:CGCTG:C	acceptor_gain	0.5400
5:135535804:A:AC	donor_gain	0.5400
5:135535805:C:CC	donor_gain	0.5400
5:135535696:CG:C	acceptor_gain	0.5300
5:135535702:GCA:G	acceptor_gain	0.5000
5:135535578:G:GA	donor_gain	0.4800
5:135535708:CCG:C	acceptor_gain	0.4700
5:135535698:C:CC	acceptor_gain	0.4600
5:135535701:TGC:T	acceptor_gain	0.4600
5:135535781:G:C	donor_gain	0.4600
5:135535705:GGACC:G	acceptor_gain	0.4500
5:135535294:T:TA	donor_gain	0.4200
5:135535711:ACG:A	acceptor_gain	0.4200
5:135535353:T:TA	donor_gain	0.4100
5:135535697:G:C	acceptor_gain	0.4100
5:135535291:G:C	donor_gain	0.4000

AlphaMissense

1520 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:135535281:G:T	A137D	1.000
5:135535290:A:G	L134P	1.000
5:135535301:T:A	K130N	1.000
5:135535301:T:G	K130N	1.000
5:135535302:T:A	K130I	1.000
5:135535303:T:C	K130E	1.000
5:135535305:G:A	T129I	1.000
5:135535368:A:G	L108S	1.000
5:135535381:G:T	R104S	1.000
5:135535387:G:T	R102S	1.000
5:135535388:C:A	E101D	1.000
5:135535388:C:G	E101D	1.000
5:135535260:A:G	L144P	0.999
5:135535287:C:G	R135P	0.999
5:135535290:A:T	L134Q	0.999
5:135535303:T:G	K130Q	0.999
5:135535347:A:G	L115P	0.999
5:135535347:A:T	L115Q	0.999
5:135535356:A:G	L112P	0.999
5:135535364:G:C	N109K	0.999
5:135535364:G:T	N109K	0.999
5:135535368:A:C	L108W	0.999
5:135535376:C:A	M105I	0.999
5:135535376:C:G	M105I	0.999
5:135535376:C:T	M105I	0.999
5:135535377:A:T	M105K	0.999
5:135535380:C:G	R104P	0.999
5:135535381:G:C	R104G	0.999
5:135535386:C:G	R102P	0.999
5:135535389:T:A	E101V	0.999

dbSNP variants (sampled 300 via entrez): RS1002229573 (5:135536298 G>C), RS1003000187 (5:135536013 C>A,T), RS1003116167 (5:135536220 G>A), RS1003355140 (5:135534553 G>T), RS1005059711 (5:135534614 A>G), RS10055108 (5:135537301 G>A), RS10055146 (5:135537584 C>T), RS1005650832 (5:135537366 G>C), RS1005940510 (5:135533991 C>T), RS1007002916 (5:135535492 C>A,G,T), RS1007050269 (5:135536950 G>A), RS1008886757 (5:135536700 G>A,T), RS1009867641 (5:135537737 C>T), RS1011529341 (5:135533884 T>C), RS1013463586 (5:135536545 A>C,G)

Disease associations

OMIM: gene MIM:601726 | disease phenotypes: MIM:620469

GenCC curated gene-disease

Disease	Classification	Inheritance
cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay	Strong	Autosomal recessive

Mondo (1): cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay (MONDO:0957563)

Orphanet (0):

HPO phenotypes

28 total (28 of 28 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000189	Narrow palate
HP:0000298	Mask-like facies
HP:0000324	Facial asymmetry
HP:0000508	Ptosis
HP:0000637	Long palpebral fissure
HP:0000729	Autistic behavior
HP:0001252	Hypotonia
HP:0001263	Global developmental delay
HP:0001284	Areflexia
HP:0001288	Gait disturbance
HP:0002487	Hyperkinetic movements
HP:0002553	Highly arched eyebrow
HP:0003390	Sensory axonal neuropathy
HP:0003623	Neonatal onset
HP:0005216	Impaired mastication
HP:0005469	Flat occiput
HP:0007957	Corneal opacity
HP:0008586	Hypoplasia of the cochlea
HP:0011385	Absent internal auditory canal
HP:0011476	Profound sensorineural hearing impairment
HP:0011968	Feeding difficulties
HP:0012736	Profound global developmental delay
HP:0030890	Hyperintensity of cerebral white matter on MRI
HP:0032794	Myoclonic seizure
HP:0034252	Absent corneal reflex
HP:0100716	Self-injurious behavior
HP:0100785	Insomnia

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

26 total (human), top 26 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects expression, affects reaction, decreases methylation	3
Paraquat	affects expression, affects reaction, decreases expression	3
Lead	affects expression, affects methylation	2
Valproic Acid	decreases expression, affects expression	2
methylmercuric chloride	increases expression	1
arsenite	increases methylation	1
sodium arsenite	increases expression	1
S-(1,2-dichlorovinyl)cysteine	decreases expression, affects cotreatment	1
2,2’-(hydroxynitrosohydrazono)bis-ethanamine	increases expression	1
MK-8776	decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Acetaminophen	decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Arsenic	affects methylation	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Carbamazepine	decreases expression	1
Dexamethasone	decreases expression, affects cotreatment	1
Bucladesine	affects expression, affects reaction	1
Lipopolysaccharides	affects cotreatment, decreases expression	1
Methylmercury Compounds	affects reaction, affects expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Rotenone	decreases expression	1
Tretinoin	increases expression	1
Cyclosporine	decreases methylation	1
Genistein	affects cotreatment, decreases expression	1
Particulate Matter	increases abundance, increases expression	1

Cellosaurus cell lines

6 cell lines: 4 embryonic stem cell, 1 induced pluripotent stem cell, 1 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_A4L2	SEES3-1V human NEUROG1, clone1	Embryonic stem cell	Male
CVCL_A4L3	SEES3-1V human NEUROG1, clone2	Embryonic stem cell	Male
CVCL_A4L4	SEES3-1V human NEUROG1, clone3	Embryonic stem cell	Male
CVCL_D3XQ	Sigma-NGN1	Induced pluripotent stem cell	Female
CVCL_LJ47	HB1.F3.Ngn1	Transformed cell line	Female
CVCL_YC46	NYGCe001-A	Embryonic stem cell	Female

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.