HOXB7

Summary

HOXB7 (homeobox B7, HGNC:5118) is a protein-coding gene on chromosome 17q21.32, encoding Homeobox protein Hox-B7 (P09629). 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 protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded nuclear protein functions as a sequence-specific transcription factor that is involved in cell proliferation and differentiation. Increased expression of this gene is associated with some cases of melanoma and ovarian carcinoma.

Source: NCBI Gene 3217 — RefSeq curated summary.

At a glance

• GWAS associations: 8
• Clinical variants (ClinVar): 52 total
• Transcription factor: yes — 23 downstream targets (CollecTRI)
• MANE Select transcript: NM_004502

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:5118
Approved symbol	HOXB7
Name	homeobox B7
Location	17q21.32
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000260027
Ensembl biotype	protein_coding
OMIM	142962
Entrez	3217

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 2 protein_coding_CDS_not_defined, 1 protein_coding

ENST00000239165, ENST00000467314, ENST00000567101

RefSeq mRNA: 1 — MANE Select: NM_004502 NM_004502

CCDS: CCDS11532

Canonical transcript exons

ENST00000239165 — 2 exons

Exon	Start	End
ENSE00000812640	48610519	48611017
ENSE00001303183	48607232	48608095

Expression profiles

Bgee: expression breadth ubiquitous, 206 present calls, max score 98.38.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.8678 / max 132.9588, expressed in 1059 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
166715	2.7888	850
166711	2.1048	759
166712	0.9663	585
166710	0.6147	335
166714	0.2861	167
166741	0.0372	16
166713	0.0365	8
166742	0.0334	16

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
corpus epididymis	UBERON:0004359	98.38	gold quality
ileal mucosa	UBERON:0000331	93.12	gold quality
mucosa of transverse colon	UBERON:0004991	92.50	gold quality
caput epididymis	UBERON:0004358	91.96	gold quality
seminal vesicle	UBERON:0000998	91.42	gold quality
colonic mucosa	UBERON:0000317	91.25	gold quality
mucosa of sigmoid colon	UBERON:0004993	91.00	gold quality
cauda epididymis	UBERON:0004360	90.91	gold quality
buccal mucosa cell	CL:0002336	89.69	silver quality
metanephros cortex	UBERON:0010533	89.65	gold quality
metanephros	UBERON:0000081	89.21	gold quality
renal medulla	UBERON:0000362	88.99	gold quality
endometrium	UBERON:0001295	88.70	gold quality
renal glomerulus	UBERON:0000074	88.63	gold quality
metanephric glomerulus	UBERON:0004736	88.59	gold quality
nephron tubule	UBERON:0001231	88.48	gold quality
kidney epithelium	UBERON:0004819	88.26	gold quality
small intestine Peyer’s patch	UBERON:0003454	88.01	gold quality
kidney	UBERON:0002113	87.71	gold quality
adult mammalian kidney	UBERON:0000082	87.68	gold quality
cortex of kidney	UBERON:0001225	87.52	gold quality
transverse colon	UBERON:0001157	87.30	gold quality
rectum	UBERON:0001052	86.10	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	85.80	gold quality
dorsal root ganglion	UBERON:0000044	85.64	gold quality
sperm	CL:0000019	85.25	gold quality
adipose tissue of abdominal region	UBERON:0007808	85.10	gold quality
omental fat pad	UBERON:0010414	84.65	gold quality
endometrium epithelium	UBERON:0004811	84.63	gold quality
peritoneum	UBERON:0002358	84.60	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-HCAD-10	yes	19.83
E-ANND-3	yes	14.82

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

23 targets.

Target	Regulation
CA1
CCND1	Activation
CDKN1B	Repression
CDX1
CLDN1
DAPK1	Repression
EGFR	Activation
FGF2	Activation
GH1
GHRH
IAPP
KDM1A
MMP2	Activation
MYH10
NPPA
PDGFA	Activation
PPP1R1B
PRL
SMARCA4
THBS2	Repression
TNFRSF11B	Activation
VEGFA	Activation
WNT5A	Activation

JASPAR motifs

Motif	Name	Family
MA1501.1	HOXB7	HOX
MA1501.2	HOXB7	HOX

JASPAR matrix evidence (PMIDs): PMID:18585359

Upstream regulators (CollecTRI, top): NFYA, NFYB, NFYC, PBX1, SP1, SP3, USF1, YY1

miRNA regulators (miRDB)

61 targeting HOXB7, 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-196A-5P	100.00	68.16	684
HSA-MIR-196B-5P	100.00	68.16	681
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-493-5P	99.96	72.47	2382
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-1236-3P	99.94	68.04	1695
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-548D-3P	99.87	70.67	4362
HSA-MIR-30A-3P	99.87	69.74	2928
HSA-MIR-30D-3P	99.87	69.92	2917
HSA-MIR-30E-3P	99.87	69.68	2942
HSA-LET-7A-2-3P	99.87	70.53	1921
HSA-MIR-548BB-3P	99.86	70.58	4354
HSA-MIR-579-3P	99.86	71.66	3628
HSA-MIR-3941	99.86	70.54	2735
HSA-MIR-548AR-3P	99.85	71.26	3889
HSA-MIR-629-3P	99.85	67.99	1875
HSA-LET-7G-3P	99.85	70.43	1929
HSA-MIR-548AC	99.84	70.77	4351
HSA-MIR-548H-3P	99.84	70.80	4349
HSA-MIR-548Z	99.84	70.80	4349

Literature-anchored findings (GeneRIF, showing 40)

• Identification of transcription factors that regulate HOXB7 expression. (PMID:12697323)
• HOXB7 is expressed from primordial and early primary stage follicles through to germinal vesicle (GV) oocytes. (PMID:16597639)
• Homeobox B7 (HoxB7) mRNA is overexpressed in biliary cancer cell lines and possibly involved in the pathogenesis of bile duct cancer. (PMID:16673309)
• HOXB7 promotes tumor invasion through activation of Ras/Rho pathway by up-regulating bFGF. HOXB7 overexpression causes epithelial-mesenchymal transition in epithelial cells, accompanied by aggressive properties of tumorigenicity, migration, & invasion. (PMID:17018609)
• thalidomide inhibits the RA-induced HOXB7 expression in glioblastoma cells (PMID:17514648)
• Differential expression of HOXB7 gene in multiple myeloma and extramedullary multiple myeloma patients (PMID:19878270)
• HOXB7 may contribute to oral carcinogenesis by increasing tumor cell proliferation (PMID:19956843)
• Strongly reduced expression of the microRNA miR-196a in melanoma cells compared to healthy melanocytes leads to enhanced HOX-B7 mRNA and protein levels, which subsequently raise Ets-1 activity by inducing basic fibroblast growth factor (bFGF). (PMID:20480203)
• confirmed that HOXB7 overexpression by multiple myeloma (MM) cells stimulated tumor growth, increased MM-associated angiogenesis and the expression of pro-angiogenic genes by microarray analysis (PMID:21183939)
• Here, we showed that PI3K/AKT and MAPK pathways were activated because p-ERK, p-AKT and p-GSK3-beta were upregulated by HOXB7. (PMID:21474578)
• Up-regulation of EGFR occurs through direct binding of HOXB7 to the EGFR promoter, enhancing transcriptional activity. (PMID:21690342)
• Data indicate that HOXB7 and related HOX genes are upregulated in plasma cells of specific subsets of multiple myeloma patients lacking major immunoglobulin heavy chain locus translocations, irrespective of hyperdiploidy or other cytogenetic lesions. (PMID:21953534)
• The current study demonstrates that the expression of HOXB7 is an independent prognostic marker for oral squamous cell carcinoma. (PMID:22239410)
• the absence of HoxB7 leads to inefficient viral progeny production, as HAdV5 gene expression is highly regulated by HoxB7-mediated activation of various adenoviral promoters. (PMID:22553335)
• HOXB5, HOXB6, and HOXB7 are activated in Barrett esophagus, and the midcluster HOXB gene signature in BE most resembled the colon rather than other GI epithelia. (PMID:22603795)
• a novel mechanism whereby polyADP-ribosylation regulates transcriptional activities of HOX proteins such as HOXB7 and HOXA7 (PMID:22844406)
• Measuring IGF2BP3, HOXB7 and NEK2 mRNA levels by RT-PCR in addition to cytology has the potential to improve detection of malignant biliary disorders from brush cytology specimens. (PMID:22879911)
• HOXB7 promotes LAC progression by enhancing proliferation and metastasis. (PMID:22911672)
• HOXB7 is frequently overexpressed in pancreatic adenocarcinoma, specifically promotes invasive phenotype, and is associated with lymph node metastasis and worse survival outcome. (PMID:22914903)
• findings suggest the disruption of the HOXB7/PBX2 complexes, miR-221&222 inhibition or even better their combination, as innovative therapeutic approaches (PMID:23400877)
• MicroRNA-196b regulates the HOXB7-VEGF axis in cervical cancer. (PMID:23861821)
• HOXB7 mRNA is overexpressed in pancreatic ductal adenocarcinomas and its knockdown induces cell cycle arrest and apoptosis. (PMID:24088503)
• HOXB7 was over-expressed and miR-337 was minimally expressed in pancreatic ductal adenocarcinoma (PMID:24641834)
• Results suggest that p53-regulated TUG1 is a growth regulator, which acts in part through control of HOXB7 in non-small cell lung cancer. (PMID:24853421)
• MiR-337 targets HOXB7 and effects significant suppression of pancreatic ductal adenocarcinoma (PDAC) cell proliferation and invasion. (PMID:25183455)
• Results demonstrate HOXB7 as a master factor driving progenitors behavior lifetime, providing a better understanding of bone senescence and leading to an optimization of MSC performance. (PMID:25428821)
• our results suggest that HOXB7 promotes tumor progression in a cell-autonomous and non-cell-autonomous manner through activation of the TGFbeta signaling pathway. (PMID:25542862)
• Myelomeningocele is significantly associated with HOXB7 hypomethylation. (PMID:25565354)
• Study reports >1,500 chromatin binding sites in the genome of a breast cancer cell line overexpressing HOXB7 and identifies some potential direct targets that are located nearby. (PMID:26014856)
• HOXB7 could promote cancer cell proliferation and might be an independent prognostic factor for patients with esophageal squamous cell carcinoma. (PMID:26076456)
• HOXB7 protein expression level is downregulated following siRNA transfection and downregulation of HOXB7 gene expression effectively inhibits MCF-7 cell proliferation. (PMID:26135503)
• HOXB7 Is an ERalpha Cofactor in the Activation of HER2 and Multiple ER Target Genes Leading to Endocrine Resistance (PMID:26180042)
• HOXB7 is generally overexpressed in gastric cancer, is associated with patient clinical characteristics, and specifically promotes gastric cancer cell malignant biological properties (PMID:26307396)
• HoxB7 is associated with tumor metastasis in patients with lung adenocarcinoma and HoxB7 may be implicated in promoting the development of lung adenocarcinoma through activation of the TGF-beta/SMAD3 signaling. (PMID:26403398)
• Results point out the complex interplay between the DSB DNA repair activity and the homeoproteins HoxB7 and Cdx2 in colon cancer cells. (PMID:26902420)
• The study suggests that HOXB7 has an oncogenic role in gastric cancer, which might be related to the modulation of Akt/PTEN activity to induce cell migration/invasion and anti-apoptotic effects. (PMID:26968988)
• These findings suggest that hoxb7 and hoxb9 proteins might play a role in salivary gland tumourigenesis, but in contrast to the reported for other human cancers, they were not significant prognostic determinants in the sample studied. (PMID:26991799)
• HOXB7 expression was significantly associated with larger tumor size and higher rate of biliary invasion in hepatocellular carcinoma. (PMID:27272787)
• the overexpression of HOXB7 in HSC-4 and KB/VCR cells reduces the sensitivity of the cells to chemo-radiotherapy-induced apoptosis and promotes oral cancer cell migration and invasion via upregulation of TGFbeta2. (PMID:27834359)
• Suggest that simultaneous targeting of key regulatory miRNA miR-222 and HOXB7 may be a useful strategy for prevention of colorectal cancer metastasis. (PMID:27855613)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	hoxb7a	ENSDARG00000056030
mus_musculus	Hoxb7	ENSMUSG00000038721
rattus_norvegicus	Hoxb7	ENSRNOG00000007611

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), HOXB2 (ENSG00000173917), HOXD8 (ENSG00000175879), GSX2 (ENSG00000180613), HOXC9 (ENSG00000180806), HOXC10 (ENSG00000180818), HOXB4 (ENSG00000182742), HOXA4 (ENSG00000197576), HOXC6 (ENSG00000197757)

Protein

Protein identifiers

Homeobox protein Hox-B7 — P09629 (reviewed: P09629)

Alternative names: Homeobox protein HHO.C1, Homeobox protein Hox-2C

All UniProt accessions (1): P09629

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. Forms a DNA-binding heterodimer with transcription factor PBX1.

Subcellular location. Nucleus.

Similarity. Belongs to the Antp homeobox family.

RefSeq proteins (1): NP_004493* (*=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
IPR017995	Homeobox_antennapedia	Family
IPR020479	HD_metazoa	Domain
IPR050296	Antp_homeobox	Family

Pfam: PF00046

UniProt features (16 total): sequence conflict 11, chain 1, DNA-binding region 1, region of interest 1, short sequence motif 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P09629-F1	66.76	0.31

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 256 (showing top): GOBP_MYELOID_CELL_DIFFERENTIATION, GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_DN, GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, RNGTGGGC_UNKNOWN, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_EPITHELIUM_DEVELOPMENT, ACTACCT_MIR196A_MIR196B, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, BENPORATH_ES_WITH_H3K27ME3, GOBP_REGULATION_OF_MORPHOGENESIS_OF_A_BRANCHING_STRUCTURE, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, GOBP_EMBRYONIC_SKELETAL_SYSTEM_DEVELOPMENT, GOBP_EMBRYONIC_SKELETAL_SYSTEM_MORPHOGENESIS

GO Biological Process (8): regulation of DNA-templated transcription (GO:0006355), regulation of transcription by RNA polymerase II (GO:0006357), anterior/posterior pattern specification (GO:0009952), myeloid cell differentiation (GO:0030099), positive regulation of transcription by RNA polymerase II (GO:0045944), embryonic organ development (GO:0048568), embryonic skeletal system morphogenesis (GO:0048704), positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)

GO Molecular Function (7): 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 transcription factor activity (GO:0003700), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677), protein binding (GO:0005515)

GO Cellular Component (5): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytosol (GO:0005829), nuclear body (GO:0016604)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA polymerase II transcription regulatory region sequence-specific DNA binding	3
cellular anatomical structure	3
regulation of DNA-templated transcription	2
transcription by RNA polymerase II	2
regulation of transcription by RNA polymerase II	2
DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
regionalization	1
hemopoiesis	1
cell differentiation	1
positive regulation of DNA-templated transcription	1
embryo development	1
animal organ development	1
embryonic organ morphogenesis	1
skeletal system morphogenesis	1
embryonic skeletal system development	1
branching involved in ureteric bud morphogenesis	1
positive regulation of multicellular organismal process	1
regulation of branching involved in ureteric bud morphogenesis	1
positive regulation of morphogenesis of an epithelium	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
transcription cis-regulatory region binding	1
transcription regulator activity	1
double-stranded DNA binding	1
sequence-specific DNA binding	1
nucleic acid binding	1
binding	1
chromosome	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cytoplasm	1
nucleoplasm	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

1268 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
HOXB7	XRCC6	P12956	961
HOXB7	PRKDC	P78527	938
HOXB7	XRCC5	P13010	928
HOXB7	PBX1	P40424	812
HOXB7	PBX2	P40425	749
HOXB7	DAPK1	P53355	695
HOXB7	MEIS2	O14770	658
HOXB7	SIX2	Q9NPC8	643
HOXB7	GALNT5	Q7Z7M9	595
HOXB7	MEIS1	O00470	566
HOXB7	TP53	P04637	560
HOXB7	HOXC9	P31274	552
HOXB7	MYC	P01106	548
HOXB7	PAX2	Q02962	511
HOXB7	FOXD1	Q16676	502

IntAct

35 interactions, top by confidence:

A	B	Type	Score
CLK3	HOXB7	psi-mi:“MI:0915”(physical association)	0.720
HOXB7	CLK3	psi-mi:“MI:0915”(physical association)	0.720
XRCC5	HOXB7	psi-mi:“MI:0915”(physical association)	0.600
XRCC5	HOXB7	psi-mi:“MI:0914”(association)	0.600
HOXB7	DMWD	psi-mi:“MI:0915”(physical association)	0.560
HOXB7	FGFR3	psi-mi:“MI:0915”(physical association)	0.560
HOXB7	SPRED1	psi-mi:“MI:0915”(physical association)	0.560
HOXB7	XRCC6	psi-mi:“MI:0914”(association)	0.530
XRCC6	HOXB7	psi-mi:“MI:0914”(association)	0.530
HOXB7	PRKDC	psi-mi:“MI:0915”(physical association)	0.500
IRAK3	HOXB7	psi-mi:“MI:0915”(physical association)	0.440
HOXB7	IRAK3	psi-mi:“MI:0403”(colocalization)	0.440
HOXB7	UBR3	psi-mi:“MI:0915”(physical association)	0.400
HOXA7	ANKRD28	psi-mi:“MI:0914”(association)	0.350
HOXA5	AHCYL1	psi-mi:“MI:0914”(association)	0.350

BioGRID (36): HOXB7 (Two-hybrid), UBR3 (Affinity Capture-MS), IMPDH1 (Affinity Capture-MS), UBR3 (Affinity Capture-MS), HOXB7 (Reconstituted Complex), HOXB7 (Two-hybrid), HOXB7 (Two-hybrid), HOXB7 (Two-hybrid), HOXB7 (Reconstituted Complex), HOXB7 (Affinity Capture-RNA), GCFC2 (Affinity Capture-MS), HOXB7 (Affinity Capture-MS), UBR3 (Affinity Capture-MS), HOXB7 (Affinity Capture-MS), ANKRD17 (Affinity Capture-MS)

ESM2 similar proteins: A1YEY5, A1YFA5, A1YFI3, A1YG57, A2T733, A2T764, A2T7P4, A6NJ46, O42115, O43248, O43711, O55144, O95096, P02830, P09023, P09024, P09629, P09633, P17509, P17919, P18864, P23410, P28362, P29454, P31259, P31311, P31313, P31315, P42586, P43120, P43345, P43697, P48031, P52951, P53544, P53545, P53546, P56915, P97334, Q02591

Diamond homologs: A1YER7, A1YFA5, A1YFD8, A1YFY3, A2D4P8, A2D5I1, A2D5K9, A2D5Y4, A2T6X6, A2T7F3, O13074, O42504, O57374, P02830, P02832, P02833, P04476, P06798, P07548, P09013, P09014, P09016, P09017, P09019, P09020, P09021, P09023, P09024, P09067, P09070, P09071, P09074, P09077, P09079, P09092, P09629, P09630, P10284, P10628, P10629

SIGNOR signaling

4 interactions.

A	Effect	B	Mechanism
HOXB7	“up-regulates activity”	PRKDC	binding
HOXB7	“up-regulates quantity by expression”	FGF2	“transcriptional regulation”
CSNK2A1	“down-regulates activity”	HOXB7	phosphorylation

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	48
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

636 predictions. Top by Δscore:

Variant	Effect	Δscore
17:48608096:C:CC	acceptor_gain	1.0000
17:48610513:CGTTA:C	donor_loss	1.0000
17:48610514:GTTAC:G	donor_loss	1.0000
17:48610515:TTA:T	donor_loss	1.0000
17:48610516:TACC:T	donor_loss	1.0000
17:48610517:ACCTG:A	donor_loss	1.0000
17:48610518:CCT:C	donor_loss	1.0000
17:48614276:CTCA:C	donor_loss	1.0000
17:48614277:TCAC:T	donor_loss	1.0000
17:48614278:CA:C	donor_loss	1.0000
17:48614279:A:AG	donor_loss	1.0000
17:48614280:C:CA	donor_loss	1.0000
17:48625751:A:AC	donor_gain	1.0000
17:48625752:C:CC	donor_gain	1.0000
17:48625752:CT:C	donor_gain	1.0000
17:48608091:AGTTC:A	acceptor_gain	0.9900
17:48608092:GTTC:G	acceptor_gain	0.9900
17:48608093:TTC:T	acceptor_gain	0.9900
17:48608094:TC:T	acceptor_gain	0.9900
17:48608095:CC:C	acceptor_gain	0.9900
17:48608099:C:CT	acceptor_gain	0.9900
17:48608101:CACAG:C	acceptor_gain	0.9900
17:48608103:C:CT	acceptor_gain	0.9900
17:48608104:A:T	acceptor_gain	0.9900
17:48608105:G:C	acceptor_gain	0.9900
17:48608105:G:GC	acceptor_gain	0.9900
17:48613507:CTG:C	acceptor_gain	0.9900
17:48613510:C:CC	acceptor_gain	0.9900
17:48613516:A:AC	acceptor_gain	0.9900
17:48614279:A:AC	donor_gain	0.9900

AlphaMissense

1402 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:48607927:A:G	M190T	1.000
17:48607931:G:T	R189S	1.000
17:48607933:C:G	R188P	1.000
17:48607934:G:C	R188G	1.000
17:48607935:G:C	N187K	1.000
17:48607935:G:T	N187K	1.000
17:48607936:T:A	N187I	1.000
17:48607936:T:C	N187S	1.000
17:48607936:T:G	N187T	1.000
17:48607937:T:C	N187D	1.000
17:48607937:T:G	N187H	1.000
17:48607938:C:A	Q186H	1.000
17:48607938:C:G	Q186H	1.000
17:48607939:T:G	Q186P	1.000
17:48607941:A:C	F185L	1.000
17:48607941:A:T	F185L	1.000
17:48607942:A:C	F185C	1.000
17:48607942:A:G	F185S	1.000
17:48607943:A:C	F185V	1.000
17:48607943:A:G	F185L	1.000
17:48607943:A:T	F185I	1.000
17:48607944:C:A	W184C	1.000
17:48607944:C:G	W184C	1.000
17:48607946:A:G	W184R	1.000
17:48607946:A:T	W184R	1.000
17:48607948:A:C	I183S	1.000
17:48607948:A:G	I183T	1.000
17:48607948:A:T	I183N	1.000
17:48607950:C:A	K182N	1.000
17:48607950:C:G	K182N	1.000

dbSNP variants (sampled 300 via entrez): RS1000072656 (17:48612023 T>C), RS1001064397 (17:48607310 G>A), RS1001448322 (17:48609940 T>C,G), RS1001957463 (17:48612851 A>G), RS1002494184 (17:48609900 T>C), RS1002653591 (17:48607680 T>C), RS1003037014 (17:48610202 G>T), RS1003706193 (17:48610027 G>A,T), RS1003872846 (17:48610622 C>T), RS1003942953 (17:48612616 G>C), RS1005555471 (17:48608863 C>T), RS1005958393 (17:48609362 A>G), RS1006286416 (17:48611109 T>C), RS1006954471 (17:48608327 G>A), RS1007769481 (17:48610557 T>C)

Disease associations

OMIM: gene MIM:142962 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

8 associations (top):

Study	Trait	p-value
GCST004278_49	Pulse pressure	1.000000e-07
GCST004278_68	Pulse pressure	3.000000e-11
GCST006021_41	Systolic blood pressure	7.000000e-10
GCST006022_11	Pulse pressure	1.000000e-07
GCST006023_8	Hypertension	1.000000e-06
GCST007703_130	Systolic blood pressure	4.000000e-07
GCST007706_21	Mean arterial pressure	5.000000e-07
GCST010245_128	LDL cholesterol levels	3.000000e-12

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0005763	pulse pressure measurement
EFO:0006335	systolic blood pressure
EFO:0006340	mean arterial pressure
EFO:0004611	low density lipoprotein cholesterol measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Estradiol	affects cotreatment, increases expression, decreases expression	3
bisphenol A	affects cotreatment, increases methylation, decreases expression	2
Valproic Acid	increases expression	2
aristolochic acid I	increases expression	1
testosterone enanthate	affects expression	1
mono-(2-ethylhexyl)phthalate	increases expression	1
bleomycetin	decreases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	increases expression, increases reaction	1
Chir 99021	increases reaction, increases expression	1
ICG 001	increases expression	1
ramelteon	increases expression	1
abrine	decreases expression	1
nilotinib	increases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	affects methylation	1
Temozolomide	increases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Abacavir	increases expression	1
Air Pollutants	increases abundance, decreases expression	1
Methanol	increases expression	1
Benzo(a)pyrene	increases methylation	1
Caffeine	increases expression	1
Ethyl Methanesulfonate	increases expression	1
Lipopolysaccharides	decreases expression, affects response to substance, increases expression	1
Methyl Methanesulfonate	increases expression	1
Nickel	decreases expression	1
Phenytoin	increases expression	1
Thalidomide	increases expression	1
Tretinoin	increases expression	1
Triclosan	increases expression	1

Clinical trials (associated diseases)

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