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This gene encodes a member of the small leucine-rich proteoglycan (SLRP) family that includes decorin, biglycan, fibromodulin, keratocan, epiphycan, and osteoglycin. In these bifunctional molecules, the protein moiety binds collagen fibrils and the highly charged hydrophilic glycosaminoglycans regulate interfibrillar spacings. Lumican is the major keratan sulfate proteoglycan of the cornea but is also distributed in interstitial collagenous matrices throughout the body. Lumican may regulate collagen fibril organization and circumferential growth, corneal transparency, and epithelial cell migration and tissue repair. [provided by RefSeq, Jul 2008]
LUM (Lumican) is a Protein Coding gene. Diseases associated with LUM include Cornea Plana and Corneal Dystrophy, Posterior Amorphous. Among its related pathways are Keratan sulfate/keratin metabolism and Proteoglycans in cancer. Gene Ontology (GO) annotations related to this gene include collagen binding and extracellular matrix structural constituent. An important paralog of this gene is FMOD.
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 |
---|---|---|---|---|---|---|---|---|---|---|
GH12J091108 | Promoter/Enhancer | 1.8 | EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER | 750.6 | +1.2 | 1237 | 3.9 | CTCF RAD21 MAX TRIM22 SMC3 ZNF143 L3MBTL2 | LUM KERA | |
GH12J091175 | Promoter/Enhancer | 1.9 | EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER | 10.2 | -68.1 | -68094 | 9.7 | CTCF RAD21 PRDM1 POLR2A ZNF512 ZSCAN4 CEBPB ZNF316 SMC3 NR2F2 | DCN lnc-LUM-1 KERA LUM ENSG00000258100 | |
GH12J091137 | Enhancer | 1.2 | VISTA Ensembl ENCODE dbSUPER | 11.4 | -29.1 | -29136 | 6.6 | ZNF384 POLR2A CEBPB JUN EP300 FOS STAT3 RCOR1 FEZF1 | LUM DCN KERA ENSG00000258100 lnc-LUM-1 | |
GH12J091357 | Enhancer | 0.9 | Ensembl ENCODE CraniofacialAtlas | 10.4 | -245.8 | -245824 | 1.1 | NFYC ELF3 SP1 PKNOX1 CTBP1 POLR2A ZNF217 GATA3 ELF1 JUND | LUM DCN LOC105369898 LINC02823 ENSG00000258100 | |
GH12J091073 | Enhancer | 0.7 | Ensembl ENCODE dbSUPER | 10.6 | +37.4 | 37439 | 1.7 | ZBTB10 FOXA2 | LUM KERA |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005201 | extracellular matrix structural constituent | NAS | 10892350 |
GO:0005515 | protein binding | IPI | 25304424 |
GO:0005518 | collagen binding | IDA,IBA | 10892350 |
GO:0030021 | extracellular matrix structural constituent conferring compression resistance | RCA | 20551380 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | HDA,TAS | -- |
GO:0005583 | fibrillar collagen trimer | IDA | 10734230 |
GO:0005615 | extracellular space | HDA | 20551380 |
GO:0005796 | Golgi lumen | TAS | -- |
GO:0031012 | extracellular matrix | TAS | 7665616 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) | ||
2 | Keratan sulfate/keratin metabolism | ||
3 | Glycosaminoglycan metabolism | ||
4 | Proteoglycans in cancer | ||
5 | HIV Life Cycle |
.45
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007601 | visual perception | TAS,IEA | -- |
GO:0014070 | response to organic cyclic compound | IEA | -- |
GO:0018146 | keratan sulfate biosynthetic process | TAS | -- |
GO:0030198 | extracellular matrix organization | TAS | -- |
GO:0030199 | collagen fibril organization | NAS | 10892350 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Copper | Approved, Investigational | Pharma | Target | 227 |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2a | · | 2b | · | 2c | ^ | 3a | · | 3b | · | 3c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||
SP2: | - | - | |||||||||||||||
SP3: | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | LUM 33 32 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | LUM 33 32 |
|
OneToOne | |
cow (Bos Taurus) |
Mammalia | LUM 33 32 |
|
OneToOne | |
mouse (Mus musculus) |
Mammalia | Lum 17 33 32 |
|
||
rat (Rattus norvegicus) |
Mammalia | Lum 32 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | LUM 33 |
|
OneToOne | |
platypus (Ornithorhynchus anatinus) |
Mammalia | LUM 33 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | LUM 33 32 |
|
OneToOne | |
lizard (Anolis carolinensis) |
Reptilia | LUM 33 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | lum 32 |
|
||
Str.15551 32 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | MGC64527 32 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | lum 33 32 |
|
OneToOne | |
sea squirt (Ciona savignyi) |
Ascidiacea | -- 33 |
|
OneToMany |
SNP ID | Clin | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1000372689 | -- | 91,112,781(-) | C/T | upstream_transcript_variant | |
rs1000905803 | -- | 91,103,437(-) | T/C | 3_prime_UTR_variant | |
rs1001019883 | -- | 91,103,138(-) | G/C | 3_prime_UTR_variant | |
rs1001137864 | -- | 91,109,763(-) | T/C | intron_variant | |
rs1001312923 | -- | 91,110,173(-) | G/A | intron_variant |
Disorder | Aliases | PubMed IDs |
---|---|---|
cornea plana |
|
|
corneal dystrophy, posterior amorphous |
|
|
degenerative myopia |
|
|
macular dystrophy, corneal |
|
|
eccrine acrospiroma |
|
|