HOXB2

Summary

HOXB2 (homeobox B2, HGNC:5113) is a protein-coding gene on chromosome 17q21.32, encoding Homeobox protein Hox-B2 (P14652). 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 is a member of the Antp homeobox family and encodes a nuclear protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded protein functions as a sequence-specific transcription factor that is involved in development. Increased expression of this gene is associated with pancreatic cancer.

Source: NCBI Gene 3212 — RefSeq curated summary.

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 51 total
• Transcription factor: yes — 14 downstream targets (CollecTRI)
• MANE Select transcript: NM_002145

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:5113
Approved symbol	HOXB2
Name	homeobox B2
Location	17q21.32
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000173917
Ensembl biotype	protein_coding
OMIM	142967
Entrez	3212

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 2 protein_coding_CDS_not_defined, 1 protein_coding

ENST00000330070, ENST00000504772, ENST00000571287

RefSeq mRNA: 1 — MANE Select: NM_002145 NM_002145

CCDS: CCDS11527

Canonical transcript exons

ENST00000330070 — 2 exons

Exon	Start	End
ENSE00001303210	48542655	48543747
ENSE00001323373	48544521	48545109

Expression profiles

Bgee: expression breadth ubiquitous, 213 present calls, max score 95.81.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 18.5003 / max 601.1812, expressed in 1323 samples.

FANTOM5 promoters (13 alternative TSS)

Promoter ID	TPM avg	Samples expressed
166664	3.0706	942
166669	3.0447	579
166665	3.0085	894
166670	1.9046	521
166671	1.8178	563
166666	1.7901	731
166660	0.8361	449
166659	0.6755	304
166661	0.6115	329
166668	0.6066	310

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
seminal vesicle	UBERON:0000998	95.81	gold quality
right uterine tube	UBERON:0001302	95.44	gold quality
corpus epididymis	UBERON:0004359	95.08	gold quality
lower esophagus muscularis layer	UBERON:0035833	93.68	gold quality
lower esophagus	UBERON:0013473	93.67	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	93.33	gold quality
metanephros cortex	UBERON:0010533	92.88	gold quality
muscle layer of sigmoid colon	UBERON:0035805	92.31	gold quality
lower esophagus mucosa	UBERON:0035834	91.04	gold quality
blood vessel layer	UBERON:0004797	90.77	gold quality
caput epididymis	UBERON:0004358	90.73	gold quality
left coronary artery	UBERON:0001626	90.27	gold quality
mucosa of stomach	UBERON:0001199	90.12	gold quality
coronary artery	UBERON:0001621	89.51	gold quality
descending thoracic aorta	UBERON:0002345	89.33	gold quality
esophagus	UBERON:0001043	89.27	gold quality
right coronary artery	UBERON:0001625	89.14	gold quality
endocervix	UBERON:0000458	89.08	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	88.85	gold quality
renal medulla	UBERON:0000362	88.80	gold quality
adult mammalian kidney	UBERON:0000082	88.65	gold quality
adipose tissue of abdominal region	UBERON:0007808	88.60	gold quality
omental fat pad	UBERON:0010414	88.58	gold quality
peritoneum	UBERON:0002358	88.53	gold quality
left uterine tube	UBERON:0001303	88.26	gold quality
right adrenal gland	UBERON:0001233	88.05	gold quality
spinal cord	UBERON:0002240	87.94	gold quality
left adrenal gland	UBERON:0001234	87.36	gold quality
left adrenal gland cortex	UBERON:0035825	87.35	gold quality
thoracic aorta	UBERON:0001515	87.29	gold quality

Single-cell (SCXA)

Detected in 6 experiment(s), a significant marker in 5.

Experiment	Marker?	Max mean expression
E-HCAD-10	yes	34.16
E-CURD-114	yes	11.59
E-ANND-3	yes	10.04
E-HCAD-1	yes	8.76
E-MTAB-8271	yes	7.23
E-GEOD-75367	no	314.02

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

14 targets.

Target	Regulation
HBG1
HOXB3
IFNB1
KAT2B
KRT14
KRT8
LTBP1
MMP9
MRGPRF
OTX2	Activation
PHOX2B	Activation
PLAT
PLG
REG1B

JASPAR motifs

Motif	Name	Family
MA0902.1	HOXB2	HOX
MA0902.2	HOXB2	HOX
MA0902.3	HOXB2	HOX
MA1957.1	HOXB2::ELK1	HOX::Ets-related

JASPAR matrix evidence (PMIDs): PMID:18585359, PMID:24218641

Upstream regulators (CollecTRI, top): EGR2, GATA1, HOXB1, HOXB3, PKNOX1, ZBTB16

miRNA regulators (miRDB)

45 targeting HOXB2, 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-5692A	100.00	74.40	6850
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-3658	99.96	73.87	4379
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-6079	99.84	68.54	1170
HSA-MIR-944	99.82	70.85	3042
HSA-MIR-3133	99.81	70.92	3506
HSA-MIR-139-5P	99.80	69.50	1399
HSA-MIR-202-5P	99.78	67.65	991
HSA-MIR-3617-5P	99.75	69.41	1968
HSA-MIR-641	99.75	69.35	1975
HSA-MIR-7856-5P	99.75	69.99	2901
HSA-MIR-1200	99.71	70.42	1838
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-7161-5P	99.68	68.92	1592
HSA-MIR-378A-5P	99.65	66.33	1311
HSA-MIR-548U	99.65	67.78	1463
HSA-MIR-3685	99.62	68.83	1621
HSA-MIR-142-5P	99.48	70.92	2416
HSA-MIR-5590-3P	99.48	70.91	2429
HSA-MIR-3140-5P	99.39	69.04	1136
HSA-MIR-544B	99.18	67.41	1632

Literature-anchored findings (GeneRIF, showing 22)

• Hoxb2 is a direct target for regulation by PLZF in the developing CNS and suggest that deregulation of Hox gene expression may contribute to APL pathogenesis. (PMID:12802276)
• HOXB2 up-regulated lesions to have much higher HOXB2 expression than the corresponding normal tissue. (PMID:17805056)
• 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)
• hoxb2 and hoxb4 expression is related to erythroid hematopoiesis, and hoxb4 has greater relevance to erythroid hematopoiesis as compared with hoxb2. (PMID:20030938)
• Downregulation of HoxB2, HoxB4 and Alx4 expression during the narrow window of early embryogenesis may cause omphalocele in the Cd chick model by interfering with molecular signaling required for proper VBW formation. (PMID:20625746)
• HOXB2 acts as a negative tumor growth regulator, decreasing proliferation in mammary adenocarcinoma tumors. (PMID:21672623)
• Increased expression of HOXB2 protein is associated with HPV infection and cervical cancer progression. (PMID:25743797)
• HOXB2 and HOXB3 act as tumor suppressors in acute myeloid leukemia patients carrying the FLT3 protein mutations. (PMID:26482852)
• SNP rs10853100 is associated with lower levels of HOXB2 expression in lung tumor samples. HOXB2 mRNA and protein levels are significantly lower in lung tumors compared to non-tumor lung tissues. (PMID:30604855)
• circ-0001785 regulates the pathogenesis of osteosarcoma by sponging miR-1200 to up-regulate HOXB2 expression. (PMID:31116090)
• Results provide evidence that increased HOXB2 expression in papillary bladder cancer (BC) can promote growth and adhesion of BC cells. (PMID:31810962)
• Epigenetic induction of tumor stemness via the lipopolysaccharide-TET3-HOXB2 signaling axis in esophageal squamous cell carcinoma. (PMID:32014008)
• MiR-202-5p suppressed cell proliferation, migration and invasion in ovarian cancer via regulating HOXB2. (PMID:32196576)
• HOXB2 and FOXC1 synergistically drive the progression of Wilms tumor. (PMID:32445751)
• LINC00662 promotes cell viability and metastasis in esophageal squamous cell carcinoma by sponging miR-340-5p and upregulating HOXB2. (PMID:32633082)
• miR1395p enhances cisplatin sensitivity in nonsmall cell lung cancer cells by inhibiting cell proliferation and promoting apoptosis via the targeting of Homeobox protein HoxB2. (PMID:33300085)
• HOXB-AS1 accelerates the tumorigenesis of glioblastoma via modulation of HOBX2 and HOBX3 at transcriptional and posttranscriptional levels. (PMID:33459377)
• Estrogen suppresses HOXB2 expression via ERalpha in breast cancer cells. (PMID:34062258)
• High expression of homeobox B2 predicts poor survival of colon adenocarcinoma by enhancing tumor proliferation and invasion. (PMID:35320486)
• The homeoprotein HOXB2 limits triple-negative breast carcinogenesis via extracellular matrix remodeling. (PMID:38322121)
• Homeobox B2 promotes malignant behavior and contributes to the radioresistance of nasopharyngeal carcinoma by regulating forkhead box protein O1. (PMID:38617001)
• HOXB2 promotes cisplatin resistance by upregulating lncRNA DANCR in ovarian cancer. (PMID:38851728)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	hoxb2a	ENSDARG00000000175
mus_musculus	Hoxb2	ENSMUSG00000075588
rattus_norvegicus	Hoxb2	ENSRNOG00000008365
drosophila_melanogaster	pb	FBGN0051481

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), HOXB1 (ENSG00000120094), 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), HOXD8 (ENSG00000175879), GSX2 (ENSG00000180613), HOXC9 (ENSG00000180806), HOXC10 (ENSG00000180818), HOXB4 (ENSG00000182742), HOXA4 (ENSG00000197576), HOXC6 (ENSG00000197757), HOXC4 (ENSG00000198353)

Protein

Protein identifiers

Homeobox protein Hox-B2 — P14652 (reviewed: P14652)

Alternative names: Homeobox protein Hox-2.8, Homeobox protein Hox-2H, K8

All UniProt accessions (1): P14652

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.

Subunit / interactions. Part of the nuclear protein complex gamma-globin promoter and enhancer binding factor (gamma-PE) composed at least by SATB1 and HOXB2.

Subcellular location. Nucleus.

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

RefSeq proteins (1): NP_002136* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001356	HD	Domain
IPR001827	Homeobox_Antennapedia_CS	Conserved_site
IPR009057	Homeodomain-like_sf	Homologous_superfamily
IPR017970	Homeobox_CS	Conserved_site
IPR020479	HD_metazoa	Domain

Pfam: PF00046

UniProt features (11 total): compositionally biased region 4, region of interest 2, chain 1, DNA-binding region 1, sequence conflict 1, short sequence motif 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P14652-F1	61.87	0.18

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (1): 274

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: 238 (showing top): VALK_AML_WITH_FLT3_ITD, GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, GOBP_HINDBRAIN_DEVELOPMENT, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_EPITHELIUM_DEVELOPMENT, MULLIGHAN_NPM1_SIGNATURE_3_UP, TAATAAT_MIR126, BENPORATH_ES_WITH_H3K27ME3, DACOSTA_UV_RESPONSE_VIA_ERCC3_XPCS_DN, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, GOBP_EMBRYONIC_SKELETAL_SYSTEM_DEVELOPMENT, GOBP_EMBRYONIC_SKELETAL_SYSTEM_MORPHOGENESIS, GOBP_CRANIAL_NERVE_MORPHOGENESIS, GGGTGGRR_PAX4_03, GOBP_CRANIAL_NERVE_DEVELOPMENT

GO Biological Process (13): morphogenesis of an epithelial sheet (GO:0002011), regulation of transcription by RNA polymerase II (GO:0006357), nervous system development (GO:0007399), anterior/posterior pattern specification (GO:0009952), dorsal/ventral pattern formation (GO:0009953), rhombomere 3 development (GO:0021569), rhombomere 4 development (GO:0021570), facial nerve structural organization (GO:0021612), positive regulation of transcription by RNA polymerase II (GO:0045944), embryonic skeletal system morphogenesis (GO:0048704), neural nucleus development (GO:0048857), regulation of DNA-templated transcription (GO:0006355), skeletal system morphogenesis (GO:0048705)

GO Molecular Function (8): 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), sequence-specific DNA binding (GO:0043565), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677), DNA-binding transcription factor activity (GO:0003700), protein binding (GO:0005515)

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
regionalization	2
rhombomere development	2
regulation of transcription by RNA polymerase II	2
cellular anatomical structure	2
morphogenesis of an epithelium	1
system development	1
cranial nerve structural organization	1
facial nerve morphogenesis	1
positive regulation of DNA-templated transcription	1
embryonic organ morphogenesis	1
skeletal system morphogenesis	1
embryonic skeletal system development	1
anatomical structure development	1
DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
skeletal system development	1
animal organ morphogenesis	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
DNA binding	1
double-stranded DNA binding	1
sequence-specific DNA binding	1
nucleic acid binding	1
transcription cis-regulatory region binding	1
transcription regulator activity	1
binding	1
chromosome	1
intracellular membrane-bounded organelle	1
nuclear lumen	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

30 interactions, top by confidence:

A	B	Type	Score
TNKS2	HOXB2	psi-mi:“MI:0915”(physical association)	0.690
TNKS2	HOXB2	psi-mi:“MI:0407”(direct interaction)	0.690
HOXB2	DTX2	psi-mi:“MI:0915”(physical association)	0.560
HOXB2	UBASH3B	psi-mi:“MI:0915”(physical association)	0.560
HOXB2	ZNF410	psi-mi:“MI:0915”(physical association)	0.560
HOXB2	NDOR1	psi-mi:“MI:0915”(physical association)	0.560
HOXB2	MID2	psi-mi:“MI:0915”(physical association)	0.560
HOXB2	PBX4	psi-mi:“MI:0915”(physical association)	0.560
HOXB2	MORN3	psi-mi:“MI:0915”(physical association)	0.560
HOXB2	RUNX1T1	psi-mi:“MI:0915”(physical association)	0.560
HOXB2	ZYG11A	psi-mi:“MI:0915”(physical association)	0.400
HOXB2	TNKS	psi-mi:“MI:0914”(association)	0.350
HOXB2	KMT2D	psi-mi:“MI:2364”(proximity)	0.270
DTX2	HOXB2	psi-mi:“MI:0915”(physical association)	0.000
UBASH3B	HOXB2	psi-mi:“MI:0915”(physical association)	0.000
ZNF410	HOXB2	psi-mi:“MI:0915”(physical association)	0.000
NDOR1	HOXB2	psi-mi:“MI:0915”(physical association)	0.000
MID2	HOXB2	psi-mi:“MI:0915”(physical association)	0.000
PBX4	HOXB2	psi-mi:“MI:0915”(physical association)	0.000
MORN3	HOXB2	psi-mi:“MI:0915”(physical association)	0.000
RUNX1T1	HOXB2	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (34): RCHY1 (PCA), HOXB2 (Two-hybrid), HOXB2 (Two-hybrid), HOXB2 (Two-hybrid), HOXB2 (Two-hybrid), HOXB2 (Two-hybrid), HOXB2 (Two-hybrid), HOXB2 (Two-hybrid), NDOR1 (Two-hybrid), HOXB2 (Affinity Capture-RNA), ZYG11A (Affinity Capture-MS), HOXB2 (Two-hybrid), MVK (Affinity Capture-MS), HOMER1 (Affinity Capture-MS), TNKS (Affinity Capture-MS)

ESM2 similar proteins: A0A0U1RRK4, A0A1W2PPE3, A0A1W2PR82, A0A2Z4LIS9, A2VE02, A4D1S0, A5PKC7, A5PL33, A6H7B4, A6NEL2, A6QP24, A6QPM6, A8MTW9, A8MYA2, D3ZAQ5, D4AAA5, E7EW31, O75474, O75638, O89113, O94850, P0C7X2, P14652, P50617, P70339, Q2KIS6, Q3UN58, Q5JPB2, Q5VZ46, Q6GQX2, Q6NZ36, Q6ZSJ8, Q6ZW13, Q76NI1, Q7TNS8, Q80TS7, Q86UU5, Q8IWN7, Q8N6K4, Q8N944

Diamond homologs: A0JPN1, A1YG85, A5PKG8, A6NJ46, A6NMT0, A7MB54, A9L937, B0VXK3, D2KQB0, E7FDX5, M0R6D8, O08686, O13023, O35762, O42365, O43364, O43711, O55144, O88181, O93366, O93367, O93590, P0C1T1, P10035, P14652, P14837, P20009, P28468, P31245, P31246, P31261, P31314, P42583, P42584, P43120, P43345, P43688, P50219, P52945, P52950

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
HOXB2	“up-regulates quantity by expression”	OTX2	“transcriptional regulation”

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	45
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

312 predictions. Top by Δscore:

Variant	Effect	Δscore
17:48543744:CCAT:C	acceptor_gain	1.0000
17:48543745:CAT:C	acceptor_gain	1.0000
17:48543745:CATC:C	acceptor_gain	1.0000
17:48543746:ATC:A	acceptor_loss	1.0000
17:48543747:TC:T	acceptor_loss	1.0000
17:48543748:C:CC	acceptor_gain	1.0000
17:48543749:T:A	acceptor_loss	1.0000
17:48544516:CCGA:C	donor_gain	1.0000
17:48543743:GCCAT:G	acceptor_gain	0.9900
17:48543744:CCATC:C	acceptor_gain	0.9900
17:48543746:AT:A	acceptor_gain	0.9900
17:48543751:C:CT	acceptor_gain	0.9900
17:48544515:A:AC	donor_gain	0.9900
17:48544516:C:CC	donor_gain	0.9900
17:48544516:CCG:C	donor_gain	0.9900
17:48544517:CGACC:C	donor_loss	0.9900
17:48544518:GACC:G	donor_loss	0.9900
17:48544519:A:T	donor_loss	0.9900
17:48544520:CCTGC:C	donor_loss	0.9900
17:48543752:A:T	acceptor_gain	0.9800
17:48544066:T:A	donor_gain	0.9800
17:48544075:A:C	donor_gain	0.9800
17:48544212:ATTCC:A	donor_gain	0.9800
17:48544212:ATT:A	donor_gain	0.9600
17:48544511:GCTTA:G	donor_loss	0.9600
17:48544512:CTTAC:C	donor_loss	0.9600
17:48544513:TTACC:T	donor_loss	0.9600
17:48544514:TACC:T	donor_loss	0.9600
17:48544515:ACC:A	donor_loss	0.9600
17:48544516:C:CG	donor_loss	0.9600

AlphaMissense

2276 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:48543556:G:T	R195S	1.000
17:48543559:G:C	R194G	1.000
17:48543560:G:C	N193K	1.000
17:48543560:G:T	N193K	1.000
17:48543561:T:A	N193I	1.000
17:48543561:T:C	N193S	1.000
17:48543561:T:G	N193T	1.000
17:48543562:T:C	N193D	1.000
17:48543563:C:A	Q192H	1.000
17:48543563:C:G	Q192H	1.000
17:48543566:A:C	F191L	1.000
17:48543566:A:T	F191L	1.000
17:48543567:A:C	F191C	1.000
17:48543567:A:G	F191S	1.000
17:48543568:A:C	F191V	1.000
17:48543568:A:G	F191L	1.000
17:48543568:A:T	F191I	1.000
17:48543569:C:A	W190C	1.000
17:48543569:C:G	W190C	1.000
17:48543571:A:G	W190R	1.000
17:48543571:A:T	W190R	1.000
17:48543594:A:G	L182P	1.000
17:48543639:T:C	Y167C	1.000
17:48543653:G:C	F162L	1.000
17:48543653:G:T	F162L	1.000
17:48543654:A:C	F162C	1.000
17:48543654:A:G	F162S	1.000
17:48543655:A:G	F162L	1.000
17:48543662:C:A	E159D	1.000
17:48543662:C:G	E159D	1.000

dbSNP variants (sampled 300 via entrez): RS1000535670 (17:48545897 G>GT), RS1000896268 (17:48545853 G>A), RS1001596513 (17:48546663 G>A,C), RS1002799671 (17:48542469 T>C), RS1002863760 (17:48545198 C>G,T), RS1003615975 (17:48544055 A>G), RS1004459127 (17:48544532 C>T), RS1004803004 (17:48545979 A>G), RS1004810726 (17:48544764 C>G,T), RS1005878439 (17:48543284 C>A,T), RS1006345054 (17:48544851 A>C,G,T), RS1006461013 (17:48545081 A>T), RS1007303603 (17:48544128 G>T), RS1007390743 (17:48543047 G>A,T), RS1007802861 (17:48544420 AC>A)

Disease associations

OMIM: gene MIM:142967 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST000610_6	Primary tooth development (number of teeth)	6.000000e-07
GCST005951_17	Body mass index	3.000000e-09
GCST006944_61	Experiencing mood swings	3.000000e-20
GCST006951_11	Feeling hurt	7.000000e-29
GCST90013442_30	Keratoconus	5.000000e-09

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index
EFO:0008475	mood instability measurement
EFO:0009599	feeling emotionally hurt measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

44 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Particulate Matter	increases abundance, increases expression, affects cotreatment, decreases expression	3
Benzo(a)pyrene	affects methylation, increases expression	2
Smoke	decreases expression, increases expression	2
Tobacco Smoke Pollution	decreases expression, decreases methylation	2
Tretinoin	increases expression, increases reaction, affects cotreatment, decreases reaction	2
aristolochic acid I	increases expression	1
LY2955303	affects cotreatment, decreases reaction, increases expression	1
propionaldehyde	decreases expression	1
bisphenol A	increases expression, increases reaction, affects cotreatment, decreases reaction	1
sodium arsenite	increases methylation, decreases expression	1
butyraldehyde	decreases expression	1
potassium chromate(VI)	decreases expression	1
isobutyl alcohol	increases abundance, affects cotreatment, decreases expression	1
pentanal	decreases expression	1
15-acetyldeoxynivalenol	increases expression	1
di-n-butylphosphoric acid	affects expression	1
LE 135	increases expression, increases reaction	1
2-palmitoylglycerol	increases expression	1
ICG 001	increases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, decreases 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
(+)-JQ1 compound	decreases 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
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	increases expression	1
Temozolomide	decreases expression	1
Sunitinib	decreases expression	1
Fulvestrant	affects cotreatment, increases expression, increases reaction	1
Gemcitabine	increases expression	1
Air Pollutants	increases expression, increases abundance	1

Clinical trials (associated diseases)

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