IBSP

Summary

IBSP (integrin binding sialoprotein, HGNC:5341) is a protein-coding gene on chromosome 4q22.1, encoding Integrin-binding sialoprotein (P21815). Binds tightly to hydroxyapatite.

The protein encoded by this gene is a major structural protein of the bone matrix. It constitutes approximately 12% of the noncollagenous proteins in human bone and is synthesized by skeletal-associated cell types, including hypertrophic chondrocytes, osteoblasts, osteocytes, and osteoclasts. The only extraskeletal site of its synthesis is the trophoblast. This protein binds to calcium and hydroxyapatite via its acidic amino acid clusters, and mediates cell attachment through an RGD sequence that recognizes the vitronectin receptor.

Source: NCBI Gene 3381 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 52 total
• MANE Select transcript: NM_004967

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:5341
Approved symbol	IBSP
Name	integrin binding sialoprotein
Location	4q22.1
Locus type	gene with protein product
Status	Approved
Aliases	BSP, SP-II, BSP-II
Ensembl gene	ENSG00000029559
Ensembl biotype	protein_coding
OMIM	147563
Entrez	3381

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000226284, ENST00000883247

RefSeq mRNA: 1 — MANE Select: NM_004967 NM_004967

CCDS: CCDS3624

Canonical transcript exons

ENST00000226284 — 7 exons

Exon	Start	End
ENSE00001006078	87806122	87806184
ENSE00001006079	87810606	87810764
ENSE00001006081	87811362	87812435
ENSE00001076861	87802654	87802731
ENSE00001076862	87802508	87802558
ENSE00001076865	87802348	87802415
ENSE00001350574	87799554	87799633

Expression profiles

Bgee: expression breadth ubiquitous, 123 present calls, max score 99.98.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 5.6597 / max 928.5607, expressed in 90 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
48741	5.5045	88
48742	0.1552	57

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
tibia	UBERON:0000979	99.98	gold quality
periodontal ligament	UBERON:0008266	97.16	gold quality
trabecular bone tissue	UBERON:0002483	95.74	gold quality
amniotic fluid	UBERON:0000173	91.71	gold quality
mucosa of paranasal sinus	UBERON:0005030	81.86	gold quality
frontal pole	UBERON:0002795	81.26	gold quality
diaphragm	UBERON:0001103	80.04	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	78.58	silver quality
gluteal muscle	UBERON:0002000	78.40	silver quality
middle frontal gyrus	UBERON:0002702	77.60	silver quality
biceps brachii	UBERON:0001507	77.51	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	76.44	silver quality
cervix squamous epithelium	UBERON:0006922	73.51	gold quality
cerebellar vermis	UBERON:0004720	73.19	silver quality
inferior olivary complex	UBERON:0002127	73.01	gold quality
tongue squamous epithelium	UBERON:0006919	72.96	gold quality
cartilage tissue	UBERON:0002418	72.49	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	72.06	silver quality
endometrium epithelium	UBERON:0004811	71.72	gold quality
mammary duct	UBERON:0001765	70.71	gold quality
secondary oocyte	CL:0000655	70.56	gold quality
visceral pleura	UBERON:0002401	70.14	gold quality
epithelium of esophagus	UBERON:0001976	70.05	gold quality
trachea	UBERON:0003126	69.96	silver quality
esophagus squamous epithelium	UBERON:0006920	69.64	silver quality
pleura	UBERON:0000977	69.25	silver quality
buccal mucosa cell	CL:0002336	69.09	silver quality
hair follicle	UBERON:0002073	69.06	gold quality
epithelium of mammary gland	UBERON:0003244	68.94	gold quality
CA1 field of hippocampus	UBERON:0003881	68.56	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-CURD-112	yes	29383.51
E-ANND-3	no	2.12

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AP1, AR, CREB1, DLX5, ESR1, ESRRA, ESRRG, ETS2, FOS, FOSL2, FOXA2, FOXN1, FOXQ1, HOXA10, HOXA1, JUN, JUND, KLF5, MEF2C, MSC, MSX2, NR0B2, PBX1, POU1F1, RORA, RUNX2, SMAD1, SMARCA1, SOX17, SP1, SP7, TBP, TBX3, TCF3, VDR, YBX1

miRNA regulators (miRDB)

60 targeting IBSP, 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-4682	100.00	68.89	1258
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-33A-5P	99.99	68.62	1055
HSA-MIR-33B-5P	99.99	68.58	1062
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-25-3P	99.98	74.60	1817
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-367-3P	99.98	74.83	1819
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-MIR-3605-5P	99.96	67.12	932
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-128-3P	99.95	71.17	2484
HSA-MIR-216A-3P	99.95	71.19	2505
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-6768-5P	99.92	67.36	1942
HSA-MIR-10523-5P	99.91	69.22	2038
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-3681-3P	99.88	70.46	2254

Literature-anchored findings (GeneRIF, showing 38)

• Eight threonines modified by O-glycans were identified, leaving the C terminus of the protein free of glycans. The recombinant protein showed similar secondary structures as bone-derived BSP (PMID:11459848)
• RT-PCR analysis of human bone marrow stromal cells during osteogenesis in vitro: the mRNA levels of bone morphogenetic protein-2 (BMP-2), bone sialoprotein-II (BSP), osteopontin (OP) and cbfa-1 increased with culture time in osteogenic medium. (PMID:11968014)
• has RGD sequence, affinity to collagen, and induces mineral crystal formation (PMID:11979972)
• Osteoblast-related transcription factors Runx2 (Cbfa1/AML3) and MSX2 mediate the expression of bone sialoprotein in human metastatic breast cancer cells. (PMID:12750290)
• BSP is expressed in breast and prostate cancer and has a role as a stimulator of bone mineralisation (PMID:14524533)
• The time course of the expression of BSP wss visualized after dental implnt implatation in mandibular bone fibroblasts. (PMID:15795688)
• Data show that RUNX2 is a direct regulator of bone sialoprotein in osteoblasts and that it functions in cooperation with DLX5 or a related factor to activate osteoblast-specific gene expression. (PMID:16000302)
• Bone sialoprotein is involved in migration of bone marrow stromal cells through Matrigel and collagen barriers. (PMID:16995818)
• bone sialoprotein expression in the primary resected NSCLC is strongly associated with BM progression and could be useful in identifying high-risk patients who could benefit from novel modalities of surveillance and preventive treatment (PMID:17050866)
• May be a prognostic marker for bone metastasis in breast cancer. (PMID:17213971)
• Runx2 and HDAC3 repress BSP gene expression and that this repression is suspended upon osteoblastic cell differentiation. (PMID:17956871)
• has an angiogenic capacity; important in the differentiation of osteoblasts, bone matrix mineralization and tumor metastasis [review] (PMID:18302613)
• PTH stimulates human BSP gene transcription by targeting the two cAMP response elements in the promoter of the human BSP gene. (PMID:19127545)
• BSP protein expression in the primary resected non-small-cell lung cancer is strongly associated with bone metastasis and could be used to identify high-risk patients. (PMID:19376608)
• Studies do not support a role for BSP in promoting metastasis through interactions with pro-MMP-2. (PMID:19386107)
• cooperative mechanisms by which BSP can enhance specific factors associated with a metastatic phenotype in tumor cell lines, an effect that is increased by circulating TGF-beta1 and EGF. (PMID:19492334)
• OPN plasma levels are associated with the genetic polymorphisms in integrin-binding sialoprotein gene locus (IBSP) (PMID:20967421)
• Our results suggest that SSEA-4 is a specific cell surface antigen that can be used to identify dental pulp stem cells. (PMID:22266579)
• human primary cementoblasts subjected to compression and IL-1beta stimulation impeded BSP and CEMP-1 expression, proteins that are associated with cementogenesis. (PMID:22349547)
• HTRA1 has a central role in osteogenesis through modification of proteins within the extracellular matrix, in particular, ibsp. (PMID:22865667)
• High BSP expression occurs in a significant subset of high-grade glioma patients and predicts a poorer outcome (PMID:23119009)
• IBSP mRNA is over expressed in carotid atheroma plaque (3.74 fold, p = 1.41E-09) in an intraindividual comparison. (PMID:23314561)
• results indicate that FGF2 increases BSP transcription by targeting the FRE and AP1 elements in the proximal promoter of the human BSP gene. (PMID:23485603)
• BSP silencing decreased the integrin alphavbeta3 and beta3 levels, in turn inhibiting cell migration and invasion and decreasing the ability of the cells to metastasize to bone. (PMID:23667544)
• High expression of bone sialoprotein in breast neoplasms was associated with cytokeratin-positive cells in bone marrow, but not with lymph node metastasis. (PMID:23726130)
• Current evidence demonstrates that BSP and OPN, play significant roles in bone metastasis of osteotropic malignancies derived from breast, prostate, lung, thyroid, and multiple myeloma. [review] (PMID:24071501)
• Bone sialoprotein could be a key mediator of the hypertrophic chondrocytes-induced angiogenesis of osteoarthritis. (PMID:24530278)
• oxidized low-density lipoprotein-induced expression dependent on Runx2 expression (PMID:25504218)
• the strong correlation between bone sialoprotein and OPN and papillary thyroid carcinoma suggests a role for BSP and OPN in calcification and tumor progression of papillary thyroid carcinoma (PMID:25973097)
• Preameloblast-Derived Factors Mediate Osteoblast Differentiation of Human Bone Marrow Mesenchymal Stem Cells by Runx2-Osterix-BSP Signaling. (PMID:26413977)
• Two significant SNPs within IBSP, rs1054627 and rs17013181, were associated with BMD and postmenopausal osteoporosis by the two-stage strategy, and rs17013181 was also significantly associated with serum IBSP levels. (PMID:26568273)
• In conclusion, serum levels of BSP, ALP, ICTP, and PSA increased in patients with bone metastases, and combined detection of all markers could improve the positive-predictive value. (PMID:27323113)
• These data indicate that secretome derived from salivary gland cancer cells can influence the expression of two potential biomarkers of oral cancer-namely, bone sialoprotein (BSP) and dentin sialoprotein (DSP)-in normal salivary gland cells. (PMID:27881474)
• Study analyzed circulating bone sialoprotein (BSP) in a large cohort of patients with liver cirrhosis. Serum levels of BSP were similar in patients with different disease stages and were not indicative for prognosis. BSP serum levels did correlate inversely with portal pressure. BSP might represent a previously unrecognized marker for portal hypertension in patients with liver cirrhosis. (PMID:32302330)
• Serum levels of bone sialoprotein, osteopontin, and beta2-microglobulin in stage I of multiple myeloma. (PMID:32362616)
• IBSP, a potential recurrence biomarker, promotes the progression of colorectal cancer via Fyn/beta-catenin signaling pathway. (PMID:33987980)
• Preservation of immunoexpression of type I collagen, BSP and BMP4 in the dentin-pulp complex of head and neck cancer patients after radiotherapy. (PMID:35081229)
• High expression of integrin-binding sialoprotein (IBSP) is associated with poor prognosis of osteosarcoma. (PMID:38006395)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Ibsp	ENSMUSG00000029306
rattus_norvegicus	Ibsp	ENSRNOG00000002158

Protein

Protein identifiers

Integrin-binding sialoprotein — P21815 (reviewed: P21815)

Alternative names: Bone sialoprotein 2, Bone sialoprotein II, Cell-binding sialoprotein

All UniProt accessions (1): P21815

UniProt curated annotations — full annotation on UniProt →

Function. Binds tightly to hydroxyapatite. Appears to form an integral part of the mineralized matrix. Probably important to cell-matrix interaction. Promotes adhesion and migration of various cells via the alpha-V/beta-3 integrin receptor (ITGAV:ITGB3).

Subunit / interactions. Monomer. Interacts with integrins; the interaction promotes cell adhesion.

Subcellular location. Secreted.

Tissue specificity. Expressed in bone (at protein level). Expressed in trophoblast cells of placenta (at protein level). Expressed in brain.

Post-translational modifications. N-glycosylated; glycans consist of sialylated and core-fucosylated bi-, tri- and tetraantennary chains. O-glycosylated at eight sites; mucin-type glycans contain Gal, GlcNAc, GalNAc and terminal NeuAc.

Domain organisation. The Arg-Gly-Asp (RGD) sequence serves as an integrin-binding motif and is required for integrin-mediated cell attachment.

Miscellaneous. It is possible that the segments of clustered carboxyl groups mediate the strong binding to hydroxyapatite. Highly expressed in glioblastoma samples, especially in microvascular-enriched regions. Elevated expression correlates with poor survival in patients with proneural glioblastomas. Promotes up-regulation of genes associated with mesenchymal phenotype in proneural glioblastoma cultures. Promotes migration and proliferation of glioblastoma, breast carcinoma and melanoma cells. ITGAV, ITGAV:ITGB3 or ITGAV:ITGB5 act as integrin receptors for IBSP in glioblastoma, breast carcinoma and melanoma cells.

RefSeq proteins (1): NP_004958* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR008412	IBSP	Family

Pfam: PF05432

UniProt features (37 total): glycosylation site 11, modified residue 10, sequence variant 6, compositionally biased region 3, mutagenesis site 2, signal peptide 1, chain 1, region of interest 1, short sequence motif 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P21815-F1	50.04	0.00

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 (10): 75, 94, 100, 149, 280, 313, 314, 31, 67, 74

Glycosylation sites (11): 104, 119, 122, 177, 182, 190, 227, 228, 229, 238, 239

Mutagenesis-validated functional residues (2):

Position	Phenotype
286–288	significantly reduces cell attachment activity.
288	modestly reduces cell attachment activity.

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-216083	Integrin cell surface interactions
R-HSA-3000178	ECM proteoglycans
R-HSA-1474244	Extracellular matrix organization

MSigDB gene sets: 113 (showing top): MCLACHLAN_DENTAL_CARIES_UP, GOBP_OSTEOBLAST_DIFFERENTIATION, GOBP_POSITIVE_REGULATION_OF_CELL_ADHESION, KESHELAVA_MULTIPLE_DRUG_RESISTANCE, GOBP_BONE_MINERALIZATION, HFH8_01, MODULE_99, GOBP_OSSIFICATION, HFH1_01, GOBP_RESPONSE_TO_GROWTH_FACTOR, FREAC4_01, chr4q22, MODULE_400, FREAC7_01, GOMF_SIGNALING_RECEPTOR_BINDING

GO Biological Process (8): osteoblast differentiation (GO:0001649), cell adhesion (GO:0007155), extracellular matrix organization (GO:0030198), bone mineralization (GO:0030282), positive regulation of cell adhesion (GO:0045785), cellular response to growth factor stimulus (GO:0071363), ossification (GO:0001503), biomineral tissue development (GO:0031214)

GO Molecular Function (3): integrin binding (GO:0005178), small molecule binding (GO:0036094), protein binding (GO:0005515)

GO Cellular Component (4): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), membrane (GO:0016020), vesicle (GO:0031982)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Extracellular matrix organization	2

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
ossification	2
binding	2
cellular anatomical structure	2
cell differentiation	1
cellular process	1
extracellular structure organization	1
external encapsulating structure organization	1
biomineral tissue development	1
cell adhesion	1
regulation of cell adhesion	1
positive regulation of cellular process	1
response to growth factor	1
cellular response to endogenous stimulus	1
multicellular organismal process	1
tissue development	1
animal organ development	1
signaling receptor binding	1
protein-containing complex binding	1
cell adhesion molecule binding	1
membrane-bounded organelle	1

Protein interactions and networks

STRING

1500 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
IBSP	SPP1	P10451	990
IBSP	BGLAP	P02818	970
IBSP	DMP1	Q13316	963
IBSP	MMP2	P08253	935
IBSP	RUNX2	Q13950	931
IBSP	SPARC	P09486	930
IBSP	DSPP	Q9NZW4	929
IBSP	MMP9	P14780	924
IBSP	MMP3	P08254	920
IBSP	SP7	Q8TDD2	880
IBSP	ITGAV	P06756	837
IBSP	VTN	P01141	835
IBSP	ALPL	P05186	827
IBSP	AMBN	Q9NP70	819
IBSP	MEPE	Q9NQ76	781

IntAct

8 interactions, top by confidence:

A	B	Type	Score
FAM9B	IBSP	psi-mi:“MI:0915”(physical association)	0.560
IBSP	FXYD3	psi-mi:“MI:0915”(physical association)	0.560
IBSP	FAM9B	psi-mi:“MI:0915”(physical association)	0.560
IBSP	METTL15	psi-mi:“MI:0914”(association)	0.350
FXYD3	IBSP	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (13): FXYD3 (Two-hybrid), FAM9B (Two-hybrid), RSPRY1 (Affinity Capture-MS), PLXDC2 (Affinity Capture-MS), METAP1 (Affinity Capture-MS), IDE (Affinity Capture-MS), UBR1 (Affinity Capture-MS), UBR2 (Affinity Capture-MS), METTL15 (Affinity Capture-MS), PDP2 (Affinity Capture-MS), PSMG2 (Affinity Capture-MS), CENPJ (Affinity Capture-MS), IBSP (Positive Genetic)

ESM2 similar proteins: A0A060XQP6, A0A1S4FQ37, A3KQQ9, B3A0Q3, B3EWZ0, B3EWZ1, B3EWZ4, B7W112, D1FQ14, D3JZP7, F5HF90, F7E728, G5EC21, H2A0M1, O01949, O46203, O55188, P08721, P0DQG1, P10451, P10923, P13839, P14287, P16845, P21815, P31096, P31097, P31098, P31936, P32447, P38978, P86958, P98193, Q13316, Q1AGV6, Q28862, Q54RM7, Q5MIT9, Q61711, Q62313

Diamond homologs: P13839, P21815, P31936, P79780, Q28862, Q61711

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
ETS2	“up-regulates quantity by expression”	IBSP	“transcriptional regulation”

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	46
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

564 predictions. Top by Δscore:

Variant	Effect	Δscore
4:87802347:GAA:G	acceptor_gain	1.0000
4:87802416:G:GG	donor_gain	1.0000
4:87802556:GGG:G	donor_gain	1.0000
4:87802557:GGG:G	donor_gain	1.0000
4:87802652:A:AG	acceptor_gain	1.0000
4:87802652:A:AT	acceptor_loss	1.0000
4:87802653:G:A	acceptor_loss	1.0000
4:87802653:G:GA	acceptor_gain	1.0000
4:87802653:GGT:G	acceptor_gain	1.0000
4:87802653:GGTCT:G	acceptor_gain	1.0000
4:87802727:TTCAG:T	donor_loss	1.0000
4:87802728:TCAGG:T	donor_loss	1.0000
4:87802729:CAGGT:C	donor_loss	1.0000
4:87802730:AG:A	donor_loss	1.0000
4:87802731:GG:G	donor_loss	1.0000
4:87802732:G:GC	donor_loss	1.0000
4:87802733:T:A	donor_loss	1.0000
4:87806121:GGGCA:G	acceptor_gain	1.0000
4:87806181:AGAGG:A	donor_loss	1.0000
4:87806183:AGGTA:A	donor_loss	1.0000
4:87806185:G:C	donor_loss	1.0000
4:87806186:T:A	donor_loss	1.0000
4:87810596:T:G	acceptor_gain	1.0000
4:87810603:CA:C	acceptor_loss	1.0000
4:87810604:A:AT	acceptor_loss	1.0000
4:87810605:GGA:G	acceptor_gain	1.0000
4:87799630:GAGG:G	donor_gain	0.9900
4:87799631:AGGGT:A	donor_loss	0.9900
4:87799632:GG:G	donor_gain	0.9900
4:87799633:GG:G	donor_gain	0.9900

AlphaMissense

2093 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:87802386:A:C	S9R	0.988
4:87802388:C:A	S9R	0.988
4:87802388:C:G	S9R	0.988
4:87802395:G:A	G12R	0.984
4:87802395:G:C	G12R	0.984
4:87802404:T:C	C15R	0.978
4:87802396:G:A	G12E	0.974
4:87802402:C:A	A14D	0.954
4:87802408:C:A	A16D	0.951
4:87811819:A:T	D288V	0.934
4:87802399:T:G	M13R	0.932
4:87802689:G:C	K47N	0.929
4:87802689:G:T	K47N	0.929
4:87802372:C:A	A4D	0.925
4:87811818:G:C	D288H	0.924
4:87802399:T:A	M13K	0.921
4:87802384:T:G	L8R	0.907
4:87811819:A:C	D288A	0.907
4:87802390:T:A	I10N	0.906
4:87802378:T:A	I6N	0.903
4:87811815:G:T	G287W	0.899
4:87802401:G:C	A14P	0.898
4:87811813:G:C	R286P	0.898
4:87802407:G:C	A16P	0.892
4:87811815:G:A	G287R	0.890
4:87811815:G:C	G287R	0.890
4:87811840:A:T	D295V	0.884
4:87811828:G:C	R291P	0.880
4:87811812:C:A	R286S	0.879
4:87811839:G:C	D295H	0.879

dbSNP variants (sampled 300 via entrez): RS1000688658 (4:87807287 T>C), RS1000931867 (4:87808851 T>G), RS1000949301 (4:87802163 C>A,T), RS1001010785 (4:87799551 A>G), RS1001319346 (4:87803850 T>C), RS1001341241 (4:87798382 C>T), RS1001373944 (4:87798521 A>G,T), RS1001413722 (4:87803521 T>C), RS1001575049 (4:87804846 A>T), RS1002023669 (4:87809498 A>T), RS1002318593 (4:87803294 A>G), RS1003090378 (4:87805124 C>G,T), RS1003107749 (4:87803486 T>C), RS1003312254 (4:87800327 G>A), RS1003329738 (4:87807135 A>G)

Disease associations

OMIM: gene MIM:147563 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST001050_1	Bone mineral density	8.000000e-07
GCST001713_23	Dental caries	7.000000e-08

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Calcitriol	increases expression	2
Tetrachlorodibenzodioxin	affects expression	2
titanium dioxide	increases expression	1
trichostatin A	affects expression, decreases reaction	1
geranylgeraniol	decreases reaction, increases expression	1
cobaltous chloride	affects reaction, increases expression	1
zirconium oxide	increases expression	1
S-(1,2-dichlorovinyl)cysteine	decreases expression, affects response to substance, increases expression, affects cotreatment	1
NOC 18	decreases reaction, increases expression	1
1H-(1,2,4)oxadiazolo(4,3-a)quinoxalin-1-one	decreases reaction, increases expression, decreases expression	1
pyrazolanthrone	increases expression, decreases reaction	1
GSK-2816126	increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Zoledronic Acid	decreases expression, decreases geranoylation, decreases degradation, decreases reaction, increases expression	1
Aluminum Oxide	increases expression	1
Ascorbic Acid	increases expression	1
Benzo(a)pyrene	affects methylation	1
Cadmium	increases expression, decreases expression	1
Calcifediol	increases expression, increases reaction, decreases reaction	1
Camptothecin	decreases response to substance	1
Copper	affects cotreatment, increases expression	1
Eugenol	decreases expression	1
Ketoconazole	decreases reaction, increases expression	1
Ketoglutaric Acids	increases expression, decreases reaction	1
Lipopolysaccharides	decreases expression, affects response to substance, increases expression, affects cotreatment	1
Magnesium	increases expression	1
Nickel	affects expression, decreases reaction	1
Nitroprusside	decreases reaction, increases expression	1
Tetradecanoylphorbol Acetate	affects cotreatment, affects expression	1
Tobacco Smoke Pollution	decreases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_F1LH	HyCyte 143B KO-hIBSP	Cancer cell line	Female

Clinical trials (associated diseases)

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