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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. [provided by RefSeq, Jul 2008]
IBSP (Integrin Binding Sialoprotein) is a Protein Coding gene. Diseases associated with IBSP include Fibrous Dysplasia and Chondromalacia. Among its related pathways are Interleukin-11 Signaling Pathway and Development_Hedgehog and PTH signaling pathways in bone and cartilage development.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH04J087799 | Promoter | 0.3 | EPDnew | 600.7 | 0.0 | -19 | 0.1 | IBSP piR-61532-221 DMP1 | ||
GH04J087657 | Enhancer | 1 | Ensembl ENCODE | 15.3 | -140.8 | -140794 | 3.9 | CREB1 ATF7 ZNF629 ZNF776 PATZ1 ZNF501 ZNF600 ZNF561 SCRT2 ZBTB44 | IBSP ENSG00000249001 ENSG00000200024 DSPP DMP1 piR-51137-086 LOC105377323 | |
GH04J087679 | Enhancer | 0.8 | Ensembl ENCODE | 4.9 | -119.6 | -119569 | 1.8 | CREB1 CTCF ATF7 ZIC2 REST RAD21 TRIM22 ESR1 SMC3 MYC | DMP1 DSPP SPARCL1 IBSP ENSG00000249001 LOC105377323 piR-32325-122 | |
GH04J087806 | Enhancer | 0.7 | Ensembl ENCODE | 5.3 | +7.3 | 7347 | 2.6 | CEBPB GATA3 CEBPG DPF2 FOXA1 FOS ZNF217 HLF FOSL2 CREB1 | IBSP PPM1K MEPE piR-53029-093 | |
GH04J087698 | Enhancer | 0.3 | Ensembl | 10.7 | -101.0 | -100953 | 0.4 | CEBPB CEBPG | DMP1 IBSP DSPP piR-32325-122 piR-33432-390 ENSG00000249001 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003674 | molecular_function | ND | -- |
GO:0005178 | integrin binding | IMP | 24103036 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | TAS | -- |
GO:0005615 | extracellular space | ISS | -- |
GO:0016020 | membrane | HDA | 16210410 |
GO:0031982 | vesicle | ISS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | ECM-receptor interaction | ||
2 | Focal Adhesion |
.61
|
.61
|
3 | PI3K-Akt signaling pathway | ||
4 | Adhesion |
-
|
|
5 | Cytoskeletal Signaling |
Symbol | External ID(s) | Details |
---|---|---|
CHD2 | ||
COL4A2 | ||
ENSG00000272822 | ||
ERCC6 | ||
FXYD3 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001503 | ossification | IEA | -- |
GO:0001649 | osteoblast differentiation | HDA | 16210410 |
GO:0007155 | cell adhesion | ISS | -- |
GO:0030198 | extracellular matrix organization | IEA,TAS | -- |
GO:0030282 | bone mineralization | IEA,IBA | 21873635 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | IBSP 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | IBSP 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | IBSP 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Ibsp 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ibsp 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | IBSP 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | IBSP 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | IBSP 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | IBSP 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 04 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
733884 | Likely Benign: not provided | 87,802,690(+) | C/T | MISSENSE_VARIANT | |
rs1054627 | - | p.Gly195Glu | |||
rs1054628 | - | p.Ala268Val | |||
rs1054629 | - | p.Glu270Asp | |||
rs13144371 | - | p.Asp213Gly |
Disorder | Aliases | PubMed IDs |
---|---|---|
fibrous dysplasia |
|
|
chondromalacia |
|
|
autosomal recessive hypophosphatemic rickets |
|
|
dentin dysplasia |
|
|
ankylosis |
|
|