Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	8929
Gene name Gene Name - the full gene name approved by the HGNC.	Paired like homeobox 2B
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	PHOX2B
Synonyms (NCBI Gene) Gene synonyms aliases	CCHS, NBLST2, NBPhox, PMX2B
Disease Acronyms (UniProt) Disease acronyms from UniProt database	NBLST2
Chromosome Chromosome number	4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	4p13
Summary Summary of gene provided in NCBI Entrez Gene.	The DNA-associated protein encoded by this gene is a member of the paired family of homeobox proteins localized to the nucleus. The protein functions as a transcription factor involved in the development of several major noradrenergic neuron populations a

Show/Hide all(8)

SNP ID	Visualize variation	Clinical significance	Consequence
rs17879189	TGCCGCCGCCGCCGCTGCCGC>-,TGCCGCCGCCGCCGCTGCCGCTGCCGCCGCCGCCGCTGCCGC	Pathogenic, benign, likely-benign	Inframe insertion, coding sequence variant, inframe deletion
rs104893856	C>T	Risk-factor	Missense variant, coding sequence variant
rs587776626	G>-,GG	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs761018157	TGCCGCTGCCGCCGC>-,TGCCGCTGCCGCCGCTGCCGCTGCCGCCGC	Pathogenic, likely-benign, benign	Coding sequence variant, inframe insertion, inframe deletion
rs772448418	CGCGGCCGCCGCCGCTGCTGC>-,CGCGGCCGCCGCCGCTGCTGCCGCGGCCGCCGCCGCTGCTGC	Uncertain-significance, pathogenic	Coding sequence variant, inframe deletion, inframe insertion
rs775006915	TGCCGCGGCCGCCGC>-,TGCCGCGGCCGCCGCTGCCGCGGCCGCCGC	Pathogenic, benign, benign-likely-benign, likely-benign	Coding sequence variant, inframe deletion, inframe insertion
rs779557320	CGCCGCCGCTGCCGC>-,CGCCGCCGCTGCCGCCGCCGCCGCTGCCGC	Likely-benign, pathogenic	Coding sequence variant, inframe deletion, inframe insertion
rs1553897738	T>C	Likely-pathogenic	Stop lost, terminator codon variant

Show/Hide all(59)

miRTarBase ID	miRNA	Experiments	Reference
MIRT535286	hsa-miR-4262	PAR-CLIP	22012620
MIRT535285	hsa-miR-181b-5p	PAR-CLIP	22012620
MIRT535284	hsa-miR-181a-5p	PAR-CLIP	22012620
MIRT535283	hsa-miR-181c-5p	PAR-CLIP	22012620
MIRT535282	hsa-miR-181d-5p	PAR-CLIP	22012620
MIRT535281	hsa-miR-543	PAR-CLIP	22012620
MIRT535280	hsa-miR-548at-5p	PAR-CLIP	22012620
MIRT535279	hsa-miR-7109-3p	PAR-CLIP	22012620
MIRT535278	hsa-miR-4272	PAR-CLIP	22012620
MIRT535277	hsa-miR-9-3p	PAR-CLIP	22012620
MIRT535286	hsa-miR-4262	PAR-CLIP	22012620
MIRT535285	hsa-miR-181b-5p	PAR-CLIP	22012620
MIRT535284	hsa-miR-181a-5p	PAR-CLIP	22012620
MIRT535283	hsa-miR-181c-5p	PAR-CLIP	22012620
MIRT535282	hsa-miR-181d-5p	PAR-CLIP	22012620
MIRT535281	hsa-miR-543	PAR-CLIP	22012620
MIRT535280	hsa-miR-548at-5p	PAR-CLIP	22012620
MIRT535279	hsa-miR-7109-3p	PAR-CLIP	22012620
MIRT535278	hsa-miR-4272	PAR-CLIP	22012620
MIRT535277	hsa-miR-9-3p	PAR-CLIP	22012620
MIRT756035	hsa-miR-99b-5p	Luciferase reporter assay, Western blotting, qRT-PCR, Immunohistochemistry (IHC), RNA-seq	34998954
MIRT1232401	hsa-miR-1224-5p	CLIP-seq
MIRT1232402	hsa-miR-1275	CLIP-seq
MIRT1232403	hsa-miR-1302	CLIP-seq
MIRT1232404	hsa-miR-138	CLIP-seq
MIRT1232405	hsa-miR-3165	CLIP-seq
MIRT1232406	hsa-miR-3179	CLIP-seq
MIRT1232407	hsa-miR-3185	CLIP-seq
MIRT1232408	hsa-miR-3190	CLIP-seq
MIRT1232409	hsa-miR-3202	CLIP-seq
MIRT1232410	hsa-miR-3915	CLIP-seq
MIRT1232411	hsa-miR-3928	CLIP-seq
MIRT1232412	hsa-miR-4260	CLIP-seq
MIRT1232413	hsa-miR-4298	CLIP-seq
MIRT1232414	hsa-miR-4456	CLIP-seq
MIRT1232415	hsa-miR-4476	CLIP-seq
MIRT1232416	hsa-miR-4648	CLIP-seq
MIRT1232417	hsa-miR-4665-5p	CLIP-seq
MIRT1232418	hsa-miR-4689	CLIP-seq
MIRT1232419	hsa-miR-4742-5p	CLIP-seq
MIRT1232420	hsa-miR-7	CLIP-seq
MIRT2068264	hsa-miR-1184	CLIP-seq
MIRT2068265	hsa-miR-1301	CLIP-seq
MIRT1232403	hsa-miR-1302	CLIP-seq
MIRT2068266	hsa-miR-337-5p	CLIP-seq
MIRT2068267	hsa-miR-3918	CLIP-seq
MIRT2068268	hsa-miR-4267	CLIP-seq
MIRT1232413	hsa-miR-4298	CLIP-seq
MIRT1232416	hsa-miR-4648	CLIP-seq
MIRT2068269	hsa-miR-4660	CLIP-seq
MIRT1232419	hsa-miR-4742-5p	CLIP-seq
MIRT2068270	hsa-miR-5047	CLIP-seq
MIRT2068271	hsa-miR-518a-5p	CLIP-seq
MIRT2068272	hsa-miR-527	CLIP-seq
MIRT2068273	hsa-miR-766	CLIP-seq
MIRT2456418	hsa-miR-4719	CLIP-seq
MIRT2456419	hsa-miR-513b	CLIP-seq
MIRT2456418	hsa-miR-4719	CLIP-seq
MIRT2456419	hsa-miR-513b	CLIP-seq

Show/Hide all(45)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	IDA	16280598
GO:0000785	Component	Chromatin	ISA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA	21873635
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	16280598
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	16144830
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	16144830
GO:0001764	Process	Neuron migration	ISS
GO:0002087	Process	Regulation of respiratory gaseous exchange by nervous system process	ISS
GO:0003357	Process	Noradrenergic neuron differentiation	IC	19573018
GO:0003357	Process	Noradrenergic neuron differentiation	ISS
GO:0003358	Process	Noradrenergic neuron development	ISS
GO:0003360	Process	Brainstem development	IEP	12640453
GO:0005654	Component	Nucleoplasm	IDA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0008285	Process	Negative regulation of cell population proliferation	IEA
GO:0010001	Process	Glial cell differentiation	ISS
GO:0010468	Process	Regulation of gene expression	ISS
GO:0010971	Process	Positive regulation of G2/M transition of mitotic cell cycle	ISS
GO:0021533	Process	Cell differentiation in hindbrain	ISS
GO:0021723	Process	Medullary reticular formation development	ISS
GO:0021934	Process	Hindbrain tangential cell migration	ISS
GO:0035914	Process	Skeletal muscle cell differentiation	IEA
GO:0045665	Process	Negative regulation of neuron differentiation	IEA
GO:0045666	Process	Positive regulation of neuron differentiation	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	16144830, 16280598
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	19573018
GO:0048483	Process	Autonomic nervous system development	IMP	12640453
GO:0048484	Process	Enteric nervous system development	IBA	21873635
GO:0048484	Process	Enteric nervous system development	IEP	12640453
GO:0048485	Process	Sympathetic nervous system development	ISS
GO:0048486	Process	Parasympathetic nervous system development	ISS
GO:0048839	Process	Inner ear development	ISS
GO:0048894	Process	Efferent axon development in a lateral line nerve	ISS
GO:0060541	Process	Respiratory system development	ISS
GO:0061452	Process	Retrotrapezoid nucleus neuron differentiation	ISS
GO:0061549	Process	Sympathetic ganglion development	ISS
GO:0071157	Process	Negative regulation of cell cycle arrest	ISS
GO:0071542	Process	Dopaminergic neuron differentiation	IC	19573018
GO:0071542	Process	Dopaminergic neuron differentiation	ISS
GO:0071773	Process	Cellular response to BMP stimulus	ISS
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	ISS	21977017
GO:1901166	Process	Neural crest cell migration involved in autonomic nervous system development	ISS
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

MIM	HGNC	e!Ensembl
603851	9143	ENSG00000109132

Protein

UniProt ID

Q99453

Protein name

Paired mesoderm homeobox protein 2B (Neuroblastoma Phox) (NBPhox) (PHOX2B homeodomain protein) (Paired-like homeobox 2B)

Protein function

Involved in the development of several major noradrenergic neuron populations, including the locus coeruleus. Transcription factor which could determine a neurotransmitter phenotype in vertebrates. Enhances second-messenger-mediated activation o

PDB

7MJA , 8EK5 , 8P7G , 8PTL , 8PUI

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00046	Homeodomain	99 → 155	Homeodomain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in neuroblastoma, brain and adrenal gland.

Sequence

MYKMEYSYLNSSAYESCMAGMDTSSLASAYADFSSCSQASGFQYNPIRTTFGATSGCPSL
TPGSCSLGTLRDHQSSPYAAVPYKLFTDHGGLNEKRKQRRIRTTFTSAQLKELERVFAET
HYPDIYTREELALKIDLTEARVQVWFQNRRAKFRKQERAAAAAAAAAKNGSSGKKSDSSR
DDESKEAKSTDPDSTGGPGPNPNPTPSCGANGGGGGGPSPAGAPGAAGPGGPGGEPGKGG
AAAAAAAAAAAAAAAAAAAAGGLAAAGGPGQGWAPGPGPITSIPDSLGGPFASVLSSLQR
PNGAKAALVKSSMF

Sequence length

314

Interactions

View interactions

Show/Hide Causal Diseases (9)

Disease term	Disease name	dbSNP ID	References
Causal
Congenital central hypoventilation	Congenital central hypoventilation	rs587776626, rs1733878065, rs761018157, rs779557320, rs772448418, rs775006915, rs1733941453, rs73810366	14608649, 14566559, 12640453, 16691592, 15657873, 20208042, 26063465, 15334515, 15024693
Dysautonomia	Dysautonomia	rs111033171, rs137853022, rs28939712, rs754348901, rs749052963, rs1057517169, rs1057516865, rs763445509, rs767527819, rs781333644, rs1239081703, rs1554696574, rs539544212, rs1201626345, rs774890086 View all (27 more)
Haddad syndrome	CCHS WITH HIRSCHSPRUNG DISEASE, Haddad syndrome	rs1297909281, rs587776626, rs1733941453, rs73810366	14608649, 12640453
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359 View all (184 more)
Hirschsprung disease	Hirschsprung Disease	rs76262710, rs75996173, rs77316810, rs75076352, rs76534745, rs76764689, rs76449634, rs377767412, rs193922699, rs75030001, rs606231342, rs1553540620, rs759944122, rs1057519322, rs1057519323 View all (4 more)
Hirschsprung disease-ganglioneuroblastoma syndrome	Hirschsprung disease-ganglioneuroblastoma syndrome	rs28939716
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)
Neuroblastoma	Neuroblastoma	rs113994087, rs113994089, rs281864719, rs863225285, rs863225284, rs863225283, rs281864720, rs863225282, rs863225281, rs1057519698, rs915983602, rs1469271544	15024693, 30127528, 25174395
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346 View all (12 more)	16021468, 21881099, 14709596

Show/Hide Unknown Diseases (3)

Disease term	Disease name	References	Source
Unknown
Crohn disease	Crohn Disease, Regional enteritis	17435756	ClinVar
Congenital Central Hypoventilation	congenital central hypoventilation syndrome		GenCC
Hirschsprung Disease	Hirschsprung Disease		GWAS

Show/Hide Text Mining Associations (47)

Disease Name	Relationship Type	References
Associations from Text Mining
Autonomic Nervous System Diseases	Associate	23873030, 28633714, 30092902
Bone Marrow Diseases	Associate	30603901
Brain Neoplasms	Associate	35763016
Brain Stem Neoplasms	Associate	25886294
Calcinosis Cutis	Associate	35763016
Cardiovascular Diseases	Associate	24381123
Central Nervous System Neoplasms	Associate	35763016
Chronobiology Disorders	Associate	28371199
Congenital central hypoventilation syndrome	Associate	15024693, 15185974, 15531561, 17264323, 17282973, 17765533, 17909190, 20676341, 21256194, 21286029, 22071890, 23342068, 23572305, 23597545, 23873030 View all (44 more)
Death Sudden	Associate	35486589
Developmental Disabilities	Associate	30799307
Disruptive Impulse Control and Conduct Disorders	Associate	36541215
Diverticular Diseases	Associate	31019703
Diverticulitis	Stimulate	31019703
Episodic Ataxia	Associate	28992836
fourth cranial nerve palsy familial congenital	Associate	16049556, 18323871
Glioma	Associate	21962230
Heart Arrest	Associate	30518452
Heart Defects Congenital	Associate	29543228
Hirschsprung Disease	Associate	12631670, 15024693, 17765533, 20459765, 22648184, 23342068, 28371199, 28433712, 28464318, 30518452, 30799307, 30999961, 31767031, 33983112
Hypercapnia	Associate	17909190, 33047879, 37185129
Hypertension	Associate	28633714
Hypoventilation	Associate	27485184, 28371199, 29704303, 30092902, 30853048, 32741443, 35713175, 37407197
Hypoxia	Associate	15531561
Hypoxia Brain	Associate	28356171
idiopathic pulmonary hemosiderosis	Associate	32741443, 33047879, 36798979
Intestinal Pseudo Obstruction	Associate	31019703
Muscle Neoplasms	Associate	18323871
Neoplasms	Associate	17765533, 19460840
Neoplasms	Inhibit	33915956
Neural crest tumor	Associate	30092902
Neuroblastoma	Associate	15024693, 16144830, 17765533, 18980998, 19216736, 19460840, 20957039, 21922652, 22251610, 23342068, 23873030, 26902400, 28464318, 29603574, 30799307 View all (9 more)
Paraganglioma	Associate	28464318
Peripheral Nervous System Neoplasms	Associate	28371199
Pheochromocytoma	Associate	23106811, 30468801
Primary Dysautonomias	Associate	23342068
Primary hyperoxaluria type 1	Associate	27129232, 28433712
Reinjuries	Associate	24634632
Respiratory Insufficiency	Associate	17909190, 27485184, 33047879, 33983112
Respiratory Tract Diseases	Associate	29588456
Shy Drager Syndrome	Associate	17765533
Sleep Apnea Central	Associate	24634632
Sleep Apnea Syndromes	Associate	30092902, 36798979
Sleep Wake Disorders	Associate	36541215
Sudden Unexpected Death in Epilepsy	Associate	35486589
Trisomy	Associate	37407197
Wilms Tumor	Associate	31652452

PHOX2B (paired like homeobox 2B)