HOXB1

Summary

HOXB1 (homeobox B1, HGNC:5111) is a protein-coding gene on chromosome 17q21.32, encoding Homeobox protein Hox-B1 (P14653). Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.

This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXB genes located in a cluster on chromosome 17.

Source: NCBI Gene 3211 — RefSeq curated summary.

At a glance

• Gene–disease (curated): facial paresis, hereditary congenital, 3 (Strong, GenCC) — +1 more curated relationship
• GWAS associations: 7
• Clinical variants (ClinVar): 67 total — 3 pathogenic
• Phenotypes (HPO): 30
• Transcription factor: yes — 12 downstream targets (CollecTRI)
• MANE Select transcript: NM_002144

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:5111
Approved symbol	HOXB1
Name	homeobox B1
Location	17q21.32
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000120094
Ensembl biotype	protein_coding
OMIM	142968
Entrez	3211

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000239174, ENST00000577092

RefSeq mRNA: 1 — MANE Select: NM_002144 NM_002144

CCDS: CCDS32675

Canonical transcript exons

ENST00000239174 — 2 exons

Exon	Start	End
ENSE00000812623	48530328	48531011
ENSE00001315080	48528526	48529875

Expression profiles

Bgee: expression breadth broad, 27 present calls, max score 87.31.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.4567 / max 52.6883, expressed in 90 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
166658	0.4567	90

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
type B pancreatic cell	CL:0000169	87.31	gold quality
olfactory bulb	UBERON:0002264	86.93	gold quality
triceps brachii	UBERON:0001509	82.72	gold quality
gluteal muscle	UBERON:0002000	81.16	gold quality
diaphragm	UBERON:0001103	78.80	gold quality
vena cava	UBERON:0004087	76.83	gold quality
heart right ventricle	UBERON:0002080	74.88	gold quality
cervix squamous epithelium	UBERON:0006922	74.83	gold quality
buccal mucosa cell	CL:0002336	72.91	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	71.90	gold quality
thymus	UBERON:0002370	71.75	gold quality
lateral nuclear group of thalamus	UBERON:0002736	71.73	gold quality
secondary oocyte	CL:0000655	71.70	gold quality
endometrium epithelium	UBERON:0004811	71.25	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	70.96	gold quality
left ventricle myocardium	UBERON:0006566	70.84	gold quality
tongue squamous epithelium	UBERON:0006919	70.64	gold quality
cardiac muscle of right atrium	UBERON:0003379	70.48	gold quality
nasal cavity epithelium	UBERON:0005384	70.36	gold quality
dorsal plus ventral thalamus	UBERON:0001897	70.21	gold quality
pancreatic ductal cell	CL:0002079	70.13	silver quality
tibialis anterior	UBERON:0001385	69.80	silver quality
subthalamic nucleus	UBERON:0001906	69.09	gold quality
cerebellar vermis	UBERON:0004720	68.93	gold quality
substantia nigra pars compacta	UBERON:0001965	68.88	gold quality
ventral tegmental area	UBERON:0002691	68.87	gold quality
body of tongue	UBERON:0011876	68.73	gold quality
upper arm skin	UBERON:0004263	68.67	gold quality
lateral globus pallidus	UBERON:0002476	68.65	gold quality
inferior vagus X ganglion	UBERON:0005363	68.63	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.46

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

12 targets.

Target	Regulation
CD1A
CD74
CRABP1
GATA2	Activation
GATA3	Activation
HOXA1
HOXA2
HOXB1	Activation
HOXB2	Unknown
OTX2	Activation
PBX1	Repression
TCF4	Repression

JASPAR motifs

Motif	Name	Family
MA2093.1	HOXB1	HOX

JASPAR matrix evidence (PMIDs): PMID:9774637

Upstream regulators (CollecTRI, top): HOXA1, HOXB1, HOXB3, MAFB, PBX1, PKNOX1, POU2F1, RARA, RXRA, SMAD3, SOX2

miRNA regulators (miRDB)

9 targeting HOXB1, 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-4492	99.87	68.25	3611
HSA-MIR-6763-5P	99.76	64.68	1767
HSA-MIR-3150A-3P	99.76	64.44	1640
HSA-MIR-1825	99.72	68.11	1089
HSA-MIR-762	99.58	66.61	1994
HSA-MIR-4498	99.47	67.42	2360
HSA-MIR-661	99.09	65.94	2062
HSA-MIR-5001-5P	99.05	66.76	1972
HSA-MIR-4446-3P	97.91	64.29	991

Literature-anchored findings (GeneRIF, showing 15)

• HoxB1 interacts with Pax6 and enhances its transcriptional activity. This interaction was modeled on a demonstrated interaction between zebrafish Pax6 and human HoxB1. (PMID:11069920)
• It is unlikely that HoxB1 plays a significant role in the genetic predisposition to autism. (PMID:11840501)
• Variation not associated with autism in an Indian population. (PMID:17167333)
• UTX directly binds to the HOXB1 locus and is required for its activation (PMID:17713478)
• Data show that inducible Hox genes are selectively sensitive to the inhibition of actin polymerization and that actin polymerization is required for the assembly of a transcription complex on the regulatory region of the Hox genes. (PMID:19477923)
• analysis of a tethered-hopping model for protein-DNA binding and unbinding based on Sox2-Oct1-Hoxb1 ternary complex simulations (PMID:20371328)
• Hoxb1 Expression Induces Cell Fate Changes in the Trunk Neural Tube. (PMID:21433221)
• HOXA1 A218G and HOXB1 nINS/INS variants may not contribute significantly to autism spectrum disorders risk (PMID:21980499)
• The resulting phenotype includes bilateral facial palsy, hearing loss, and strabismus and correlates extensively with the previously reported Hoxb1(-/-) mouse phenotype. (PMID:22770981)
• HOXB1 functions as a tumor suppressor, regulated by miR-3175 in glioma. (PMID:26565624)
• This is the first disease-associated HOXB1 mutation with a likely loss-of-function effect suggesting that all HOXB1 variants reported so far also have severe impact on activity of this transcriptional regulator (PMID:27144914)
• findings revealed a novel homozygous mutation p.Arg230Trp (c.688C>T) within the HOXB1 gene of three members of a Turkish family with hereditary congenital facial paresis (HCFP3) (PMID:27640920)
• a homozygous c.74_82dup (p.Pro28delinsHisSerAlaPro) variant was identified in one individual with double outlet right ventricle (DORV). We also identified five previously reported polymorphisms (rs35114525, rs12946855, rs14534040, rs12939811, and rs7207109) in 18 patients (12 DORV and 6 perimembranous VSD). Our study did not show any pathogenic alterations in the coding region of HOXB1 among patients with VSD. (PMID:29923154)
• The results from this study demonstrate the potential of hsa-let-7g/HOXB1 axis as a therapeutic target for the treatment of lung cancer. (PMID:32102121)
• MicroRNA-301b-3p facilitates cell proliferation and migration in colorectal cancer by targeting HOXB1. (PMID:34488545)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	hoxb1b	ENSDARG00000054033
mus_musculus	Hoxb1	ENSMUSG00000018973
rattus_norvegicus	Hoxb1	ENSRNOG00000008506

Paralogs (42): HOXA11 (ENSG00000005073), HOXC8 (ENSG00000037965), HOXA1 (ENSG00000105991), HOXA2 (ENSG00000105996), HOXA3 (ENSG00000105997), HOXA5 (ENSG00000106004), HOXA6 (ENSG00000106006), HOXA13 (ENSG00000106031), TLX1 (ENSG00000107807), HOXB6 (ENSG00000108511), TLX2 (ENSG00000115297), HOXB8 (ENSG00000120068), HOXB5 (ENSG00000120075), HOXB3 (ENSG00000120093), HOXA7 (ENSG00000122592), HOXC13 (ENSG00000123364), HOXC11 (ENSG00000123388), HOXC12 (ENSG00000123407), HOXD1 (ENSG00000128645), HOXD3 (ENSG00000128652), HOXD9 (ENSG00000128709), HOXD10 (ENSG00000128710), HOXD11 (ENSG00000128713), HOXD13 (ENSG00000128714), PDX1 (ENSG00000139515), HOXB13 (ENSG00000159184), TLX3 (ENSG00000164438), HOXD4 (ENSG00000170166), HOXD12 (ENSG00000170178), HOXB9 (ENSG00000170689), HOXC5 (ENSG00000172789), HOXB2 (ENSG00000173917), HOXD8 (ENSG00000175879), GSX2 (ENSG00000180613), HOXC9 (ENSG00000180806), HOXC10 (ENSG00000180818), HOXB4 (ENSG00000182742), HOXA4 (ENSG00000197576), HOXC6 (ENSG00000197757), HOXC4 (ENSG00000198353)

Protein

Protein identifiers

Homeobox protein Hox-B1 — P14653 (reviewed: P14653)

Alternative names: Homeobox protein Hox-2I

All UniProt accessions (1): P14653

UniProt curated annotations — full annotation on UniProt →

Function. Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Acts on the anterior body structures.

Subcellular location. Nucleus.

Disease relevance. Facial paresis, hereditary congenital, 3 (HCFP3) [MIM:614744] A form of facial paresis, a disease characterized by isolated dysfunction of the facial nerve (CN VII). HCFP3 patients are affected by bilateral facial palsy, facial muscle weakness of muscles innervated by CN VII, hearing loss, and strabismus. The disease is caused by variants affecting the gene represented in this entry.

Polymorphism. The two common alleles; HOX1BA and HOX1BB have a frequency of 78.8% and 21.2% respectively.

Similarity. Belongs to the Antp homeobox family. Labial subfamily.

Isoforms (2)

UniProt ID	Names	Canonical?
P14653-1	1	yes
P14653-2	2

RefSeq proteins (1): NP_002135* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001356	HD	Domain
IPR009057	Homeodomain-like_sf	Homologous_superfamily
IPR017970	Homeobox_CS	Conserved_site
IPR020479	HD_metazoa	Domain
IPR046327	HXA1/B1/D1	Family

Pfam: PF00046

UniProt features (20 total): sequence variant 5, helix 4, region of interest 3, compositionally biased region 3, splice variant 2, chain 1, DNA-binding region 1, short sequence motif 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
1B72	X-RAY DIFFRACTION	2.35

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P14653-F1	62.53	0.24

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-5617472	Activation of anterior HOX genes in hindbrain development during early embryogenesis

MSigDB gene sets: 199 (showing top): GOBP_HINDBRAIN_DEVELOPMENT, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_METENCEPHALON_DEVELOPMENT, BENPORATH_ES_WITH_H3K27ME3, MYOGENIN_Q6, PAX4_01, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, GOBP_EMBRYONIC_SKELETAL_SYSTEM_DEVELOPMENT, GOBP_EMBRYONIC_SKELETAL_SYSTEM_MORPHOGENESIS, GOBP_CRANIAL_NERVE_MORPHOGENESIS, GOBP_CRANIAL_NERVE_DEVELOPMENT, CAGCTG_AP4_Q5, GOBP_ANATOMICAL_STRUCTURE_ARRANGEMENT, SREBP1_02, GOBP_ANIMAL_ORGAN_MORPHOGENESIS

GO Biological Process (13): regulation of DNA-templated transcription (GO:0006355), regulation of transcription by RNA polymerase II (GO:0006357), pattern specification process (GO:0007389), anterior/posterior pattern specification (GO:0009952), rhombomere 4 development (GO:0021570), rhombomere 5 development (GO:0021571), facial nerve structural organization (GO:0021612), facial nucleus development (GO:0021754), positive regulation of transcription by RNA polymerase II (GO:0045944), anatomical structure formation involved in morphogenesis (GO:0048646), embryonic skeletal system morphogenesis (GO:0048704), anatomical structure morphogenesis (GO:0009653), rhombomere development (GO:0021546)

GO Molecular Function (9): RNA polymerase II transcription regulatory region sequence-specific DNA binding (GO:0000977), RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), DNA binding (GO:0003677), protein domain specific binding (GO:0019904), sequence-specific double-stranded DNA binding (GO:1990837), DNA-binding transcription factor activity (GO:0003700), sequence-specific DNA binding (GO:0043565)

GO Cellular Component (3): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Activation of HOX genes during differentiation	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA polymerase II transcription regulatory region sequence-specific DNA binding	3
regulation of DNA-templated transcription	2
transcription by RNA polymerase II	2
rhombomere development	2
regulation of transcription by RNA polymerase II	2
developmental process	2
anatomical structure development	2
transcription cis-regulatory region binding	2
cellular anatomical structure	2
DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
multicellular organism development	1
multicellular organismal process	1
regionalization	1
cranial nerve structural organization	1
facial nerve morphogenesis	1
pons development	1
neural nucleus development	1
positive regulation of DNA-templated transcription	1
anatomical structure morphogenesis	1
embryonic organ morphogenesis	1
skeletal system morphogenesis	1
embryonic skeletal system development	1
hindbrain development	1
cis-regulatory region sequence-specific DNA binding	1
chromatin	1
DNA-binding transcription factor activity	1
DNA-binding transcription factor activity, RNA polymerase II-specific	1
DNA-binding transcription activator activity	1
positive regulation of transcription by RNA polymerase II	1
nucleic acid binding	1
protein binding	1
double-stranded DNA binding	1
sequence-specific DNA binding	1
transcription regulator activity	1
DNA binding	1
chromosome	1
intracellular membrane-bounded organelle	1
nuclear lumen	1

Protein interactions and networks

STRING

1304 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
HOXB1	PBX1	P40424	983
HOXB1	PKNOX1	P55347	772
HOXB1	PKNOX2	Q96KN3	759
HOXB1	KDM6B	O15054	735
HOXB1	CHN1	P15882	671
HOXB1	KDM6A	O15550	632
HOXB1	EGR2	P11161	589
HOXB1	ROBO3	Q96MS0	585
HOXB1	SALL4	Q9UJQ4	577
HOXB1	IFITM3	Q01628	548
HOXB1	PAX1	P15863	528
HOXB1	CYP26A1	O43174	519
HOXB1	HOXB2	P10913	513
HOXB1	CYP26C1	Q6V0L0	501
HOXB1	TBX6	O95947	491

IntAct

7 interactions, top by confidence:

A	B	Type	Score
HOXB1	GMNN	psi-mi:“MI:0407”(direct interaction)	0.440
HOXB1	PBX1	psi-mi:“MI:0407”(direct interaction)	0.440
HOXD1	HOXB1	psi-mi:“MI:0915”(physical association)	0.400
HOXB1	GFER	psi-mi:“MI:0915”(physical association)	0.400
HOXA1	HOXB1	psi-mi:“MI:0915”(physical association)	0.400
HOXB1	HAX1	psi-mi:“MI:0914”(association)	0.350

BioGRID (35): RCHY1 (PCA), ZNF835 (Two-hybrid), HOXB1 (Reconstituted Complex), HOXB1 (Reconstituted Complex), HOXB1 (Reconstituted Complex), PBX1 (Co-crystal Structure), HOXB1 (Proximity Label-MS), GFER (Affinity Capture-MS), HOXB1 (Affinity Capture-MS), COA7 (Affinity Capture-MS), KLHL9 (Affinity Capture-MS), AK2 (Affinity Capture-MS), BCKDHA (Affinity Capture-MS), CCNH (Affinity Capture-MS), CBWD1 (Affinity Capture-MS)

ESM2 similar proteins: A0A8V0YY16, A0JPN1, A1YG01, A2D4R4, A2D649, A2T6H5, A2T6Z0, A2T7J2, A3KNJ3, A7MB54, A8MTJ6, B5RHS5, D3Z120, O54743, P09027, P14653, P17919, P31249, P32183, P35584, P55316, P55318, P56260, Q00939, Q12946, Q12947, Q12948, Q12951, Q1A1A1, Q1A1A2, Q1A1A3, Q1A1A4, Q1A1A5, Q1A1A6, Q28D67, Q28HT3, Q3I5G5, Q3Y598, Q60987, Q61080

Diamond homologs: A1L2P5, A1YER7, A1YFD8, A1YFY3, A1YG01, A2D4P8, A2D4R4, A2D5I1, A2D5K9, A2D5Y4, A2D649, A2T6H5, A2T6X6, A2T6Z0, A2T7J2, A8DT10, A9L937, B0VXK3, O08656, O13074, O42365, O42366, O42367, O42368, O42370, O43364, O43365, O93353, P02831, P06798, P07548, P09016, P09017, P09021, P09022, P09027, P09070, P09638, P0C1T1, P10105

SIGNOR signaling

4 interactions.

A	Effect	B	Mechanism
HOXB1	“up-regulates quantity by expression”	OTX2	“transcriptional regulation”
HMGB1	“up-regulates activity”	HOXB1	binding
PKNOX1	“up-regulates activity”	HOXB1	binding
PBX1	“up-regulates activity”	HOXB1	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	0
Uncertain significance	45
Likely benign	9
Benign	7

Top pathogenic / likely-pathogenic (3)

Variant ID	HGVS	Classification
35567	NM_002144.4(HOXB1):c.619C>T (p.Arg207Cys)	Pathogenic
495205	NM_002144.4(HOXB1):c.620G>A (p.Arg207His)	Pathogenic
495206	NM_002144.4(HOXB1):c.66C>G (p.Tyr22Ter)	Pathogenic

SpliceAI

175 predictions. Top by Δscore:

Variant	Effect	Δscore
17:48529871:CTTCG:C	acceptor_gain	0.9900
17:48529872:TTCG:T	acceptor_gain	0.9900
17:48529874:CG:C	acceptor_gain	0.9900
17:48529876:C:CC	acceptor_gain	0.9900
17:48529883:C:CT	acceptor_gain	0.9900
17:48529884:G:T	acceptor_gain	0.9900
17:48530325:TA:T	donor_loss	0.9900
17:48530326:A:AT	donor_loss	0.9900
17:48530327:CC:C	donor_loss	0.9900
17:48530327:CCTGT:C	donor_gain	0.9900
17:48530351:A:C	donor_gain	0.9900
17:48529873:TCG:T	acceptor_gain	0.9800
17:48529874:CGC:C	acceptor_gain	0.9800
17:48529874:CGCT:C	acceptor_loss	0.9700
17:48529876:CTA:C	acceptor_loss	0.9700
17:48529888:C:CT	acceptor_gain	0.9600
17:48530349:TA:T	donor_gain	0.9600
17:48530350:AA:A	donor_gain	0.9600
17:48530347:CTTA:C	donor_gain	0.9500
17:48529889:A:T	acceptor_gain	0.9300
17:48530328:C:G	donor_loss	0.9200
17:48530345:CTCT:C	donor_gain	0.9100
17:48530346:TCTT:T	donor_gain	0.9100
17:48530348:TT:T	donor_gain	0.8800
17:48530411:T:TA	donor_gain	0.8700
17:48530326:A:AC	donor_gain	0.8300
17:48530327:C:CC	donor_gain	0.8300
17:48530350:AAC:A	donor_gain	0.7900
17:48530326:A:C	donor_gain	0.6700
17:48530355:T:A	donor_gain	0.6300

AlphaMissense

1924 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:48529692:C:G	R254P	1.000
17:48529694:G:C	N253K	1.000
17:48529694:G:T	N253K	1.000
17:48529695:T:C	N253S	1.000
17:48529695:T:G	N253T	1.000
17:48529696:T:C	N253D	1.000
17:48529697:C:A	Q252H	1.000
17:48529697:C:G	Q252H	1.000
17:48529700:G:C	F251L	1.000
17:48529700:G:T	F251L	1.000
17:48529701:A:C	F251C	1.000
17:48529701:A:G	F251S	1.000
17:48529702:A:C	F251V	1.000
17:48529702:A:G	F251L	1.000
17:48529702:A:T	F251I	1.000
17:48529703:C:A	W250C	1.000
17:48529703:C:G	W250C	1.000
17:48529705:A:G	W250R	1.000
17:48529705:A:T	W250R	1.000
17:48529709:C:A	K248N	1.000
17:48529709:C:G	K248N	1.000
17:48529711:T:C	K248E	1.000
17:48529713:A:T	V247D	1.000
17:48529728:A:G	L242P	1.000
17:48529728:A:T	L242H	1.000
17:48529743:G:T	A237D	1.000
17:48529773:T:C	Y227C	1.000
17:48529774:A:G	Y227H	1.000
17:48529787:G:C	F222L	1.000
17:48529787:G:T	F222L	1.000

dbSNP variants (sampled 300 via entrez): RS1001247442 (17:48532643 A>G,T), RS1002459994 (17:48528225 GAAAA>G,GAAA,GAAAAA), RS1003537303 (17:48531269 A>C), RS1003711660 (17:48531605 A>G), RS1003922145 (17:48529396 TCCCA>T), RS1004545404 (17:48529150 C>A,T), RS1006080513 (17:48532817 T>C), RS1006182396 (17:48531216 A>G), RS1006570551 (17:48532611 G>A), RS1007251369 (17:48532357 C>T), RS1007378722 (17:48531792 C>G), RS1008077618 (17:48532056 C>A,T), RS1008667115 (17:48530553 C>A,G,T), RS1008751535 (17:48529210 A>C), RS1009350385 (17:48530848 G>A)

Disease associations

OMIM: gene MIM:142968 | disease phenotypes: MIM:614744

GenCC curated gene-disease

Disease	Classification	Inheritance
facial paresis, hereditary congenital, 3	Strong	Autosomal recessive
congenital hereditary facial paralysis-variable hearing loss syndrome	Supportive	Autosomal recessive

Mondo (2): facial paresis, hereditary congenital, 3 (MONDO:0013880), congenital hereditary facial paralysis-variable hearing loss syndrome (MONDO:0017627)

Orphanet (1): Congenital hereditary facial paralysis-variable hearing loss syndrome (Orphanet:306530)

HPO phenotypes

30 total (30 of 30 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000194	Open mouth
HP:0000218	High palate
HP:0000286	Epicanthus
HP:0000319	Smooth philtrum
HP:0000322	Short philtrum
HP:0000337	Broad forehead
HP:0000347	Micrognathia
HP:0000358	Posteriorly rotated ears
HP:0000369	Low-set ears
HP:0000407	Sensorineural hearing impairment
HP:0000463	Anteverted nares
HP:0000565	Esotropia
HP:0000750	Delayed speech and language development
HP:0001260	Dysarthria
HP:0002015	Dysphagia
HP:0002058	Myopathic facies
HP:0002714	Downturned corners of mouth
HP:0003196	Short nose
HP:0003577	Congenital onset
HP:0003680	Nonprogressive
HP:0005216	Impaired mastication
HP:0005280	Depressed nasal bridge
HP:0007687	Unilateral ptosis
HP:0010628	Facial palsy
HP:0010804	Tented upper lip vermilion
HP:0011800	Midface retrusion
HP:0011968	Feeding difficulties
HP:0025312	Esophoria
HP:0030001	Lagophthalmos

GWAS associations

7 associations (top):

Study	Trait	p-value
GCST000610_6	Primary tooth development (number of teeth)	6.000000e-07
GCST003208_3	Colorectal or endometrial cancer	7.000000e-06
GCST005951_17	Body mass index	3.000000e-09
GCST008151_53	Waist circumference	8.000000e-06
GCST008160_12	Waist circumference	8.000000e-06
GCST010083_190	Hemoglobin levels	3.000000e-16
GCST90013442_30	Keratoconus	5.000000e-09

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0004230	endometrial neoplasm
EFO:0004340	body mass index
EFO:0004509	hemoglobin measurement

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
Tretinoin	increases reaction, affects expression, affects cotreatment, decreases reaction, increases expression	4
aristolochic acid I	increases expression	1
LY2955303	affects cotreatment, decreases reaction, increases expression	1
bisphenol A	affects cotreatment, decreases reaction, increases expression, increases reaction	1
CGP 52608	affects binding, increases reaction	1
LE 135	increases reaction, increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
Chir 99021	affects cotreatment, increases expression	1
4-(2-(5,6-dihydro-5,5-dimethyl-8-(2-phenylethynyl)naphthalen-2-yl)ethen-1-yl)benzoic acid	affects cotreatment, decreases reaction, increases expression	1
4-(5,6-dihydro-5,5-dimethyl-8-(quinolin-3-yl)naphthalen-2-carboxamido)benzoic acid	affects cotreatment, decreases reaction, increases expression	1
4-(6-bromo-1,3-benzodioxol-5-yl)-3a,4,5,9b-3H-cyclopenta(c)quinoline	affects cotreatment, increases expression, increases reaction	1
Resveratrol	affects cotreatment, decreases expression	1
Fulvestrant	affects cotreatment, increases expression, increases reaction	1
Dolutegravir	increases expression	1
Cyclic AMP	affects cotreatment, decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Ascorbic Acid	affects cotreatment, decreases expression	1
Benzo(a)pyrene	affects methylation	1
Diethylhexyl Phthalate	decreases expression	1
Folic Acid	decreases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Asbestos, Crocidolite	decreases methylation	1
Asbestos, Amosite	decreases methylation	1
Copper Sulfate	decreases expression	1
Particulate Matter	increases abundance, increases expression	1

Cellosaurus cell lines

3 cell lines: 3 embryonic stem cell

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

Cellosaurus	Name	Category	Sex
CVCL_A2Y1	SEES3-1V human HOXB1, clone1	Embryonic stem cell	Male
CVCL_A2Y2	SEES3-1V human HOXB1, clone2	Embryonic stem cell	Male
CVCL_A2Y3	SEES3-1V human HOXB1, clone3	Embryonic stem cell	Male

Clinical trials (associated diseases)

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