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The protein encoded by this gene is a keratan sulfate proteoglycan that is involved in corneal transparency. Defects in this gene are a cause of autosomal recessive cornea plana 2 (CNA2).[provided by RefSeq, May 2010]
KERA (Keratocan) is a Protein Coding gene. Diseases associated with KERA include Cornea Plana 2, Autosomal Recessive and Congenital Cornea Plana. Among its related pathways are Keratan sulfate/keratin metabolism and Metabolism. An important paralog of this gene is PRELP.
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 |
---|---|---|---|---|---|---|---|---|---|---|
GH12J091053 | Promoter/Enhancer | 1.2 | EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER | 606.2 | +2.2 | 2220 | 5.2 | MAFF MAFK | KERA hsa-miR-5095-097 EPYC | |
GH12J091058 | Enhancer | 0.3 | ENCODE dbSUPER | 606 | -1.6 | -1587 | 1.9 | KERA MN309489 LUM | ||
GH12J091175 | Promoter/Enhancer | 1.9 | EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER | 14.6 | -121.8 | -121835 | 9.7 | CTCF ZNF512 PRDM1 ZSCAN4 CEBPB ZNF316 NR2F2 RAD21 SMC3 MAFK | DCN lnc-LUM-1 KERA LUM LINC02823 MN309490 | |
GH12J091098 | Enhancer | 0.9 | Ensembl ENCODE dbSUPER | 18.7 | -41.4 | -41382 | 2.4 | ATF7 SMARCC1 JUND CEBPB JUN FOS GTF2F1 NR2F2 EP300 BHLHE40 | KERA EPYC MN309489 LUM | |
GH12J091108 | Promoter/Enhancer | 1.9 | EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER | 6.9 | -52.5 | -52504 | 3.9 | CTCF RAD21 TRIM22 JUND SMC3 ZNF654 ZNF143 YY1 CHD2 MAX | LUM KERA MN309489 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003674 | molecular_function | ND | -- |
GO:0005515 | protein binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | TAS | -- |
GO:0005615 | extracellular space | IBA | 21873635 |
GO:0005796 | Golgi lumen | TAS | -- |
GO:0031012 | extracellular matrix | NAS | 10802664 |
GO:0043202 | lysosomal lumen | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) | ||
2 | Keratan sulfate/keratin metabolism | ||
3 | Glycosaminoglycan metabolism | ||
4 | HIV Life Cycle |
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5 | Chondroitin sulfate/dermatan sulfate metabolism |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007601 | visual perception | IEA | -- |
GO:0018146 | keratan sulfate biosynthetic process | TAS | -- |
GO:0042340 | keratan sulfate catabolic process | TAS | -- |
GO:0050896 | response to stimulus | IEA | -- |
GO:0061303 | cornea development in camera-type eye | IEA | -- |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | KERA 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | KERA 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | KERA 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | KERA 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | KERA 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Kera 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Kera 30 |
|
||
Chicken (Gallus gallus) |
Aves | KERA 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | KERA 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | kera 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | kera 30 31 |
|
OneToOne | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
781087 | Likely Benign: not provided | 91,051,467(-) | C/T | MISSENSE_VARIANT | |
rs121917858 | Pathogenic: Cornea plana 2. Cornea plana 2, autosomal recessive (CNA2) [MIM:217300] | 91,055,542(-) | T/Cp.Asn247Ser | MISSENSE_VARIANT | |
rs121917860 | Pathogenic: Cornea plana 2 | 91,055,762(-) | G/A | NONSENSE | |
rs121917862 | Pathogenic: Cornea plana 2. Cornea plana 2, autosomal recessive (CNA2) [MIM:217300] | 91,055,638(-) | G/Tp.Thr215Lys | MISSENSE_VARIANT | |
rs121917863 | Pathogenic: Cornea plana 2 | 91,051,468(-) | G/A | NONSENSE |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv1039417 | CNV | loss | 25217958 |
nsv1042800 | CNV | loss | 25217958 |
Disorder | Aliases | PubMed IDs |
---|---|---|
cornea plana 2, autosomal recessive |
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congenital cornea plana |
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cornea plana |
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corneal ectasia |
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keratoconus |
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