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EMILIN2 (Elastin Microfibril Interfacer 2) is a Protein Coding gene. Diseases associated with EMILIN2 include Porokeratosis. Gene Ontology (GO) annotations related to this gene include extracellular matrix constituent conferring elasticity. An important paralog of this gene is EMILIN1.
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 |
---|---|---|---|---|---|---|---|---|---|---|
GH18J002846 | Promoter/Enhancer | 1.9 | EPDnew FANTOM5 Ensembl ENCODE dbSUPER | 639.3 | +0.7 | 695 | 3.8 | RNF2 PRDM10 ZNF629 ZNF512 IKZF1 ZNF692 JUND PRDM1 MTA2 ZIC2 | EMILIN2 piR-40110-292 LPIN2 | |
GH18J002905 | Promoter/Enhancer | 2 | EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER | 600.2 | +59.4 | 59395 | 3.2 | HNRNPL GATAD2A TFE3 NFKBIZ POLR2A LARP7 ZIC2 RBFOX2 IKZF2 EZH2 | EMILIN2 LPIN2 piR-57204 piR-42641 | |
GH18J002845 | Promoter/Enhancer | 0.9 | FANTOM5 Ensembl dbSUPER | 621 | -1.5 | -1532 | 0.3 | SPI1 EZH2 | EMILIN2 MN297520 SMCHD1 | |
GH18J002847 | Enhancer | 0.4 | ENCODE dbSUPER | 600.7 | -1.7 | -1698 | 0 | SPI1 | EMILIN2 MN297520 SMCHD1 | |
GH18J003177 | Enhancer | 1.2 | FANTOM5 ENCODE | 35.4 | +332.4 | 332352 | 3.7 | SP1 LEF1 POLR2A BACH1 JUND STAT3 ZNF143 RELA PKNOX1 ZNF24 | EMILIN2 TGIF1 MYOM1 ENSG00000252258 MYL12B LPIN2 ENSG00000265399 lnc-LPIN2-3 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 11278945 |
GO:0030023 | extracellular matrix constituent conferring elasticity | NAS,RCA | 25037231 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | IEA,IDA | 11278945 |
GO:0005581 | collagen trimer | IEA | -- |
GO:0062023 | collagen-containing extracellular matrix | HDA | 23658023 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007155 | cell adhesion | IEA | -- |
GO:0008150 | biological_process | ND | -- |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | EMILIN2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | EMILIN2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | EMILIN2 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Emilin2 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Emilin2 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | EMILIN2 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | EMILIN2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | EMILIN2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | emilin2 30 |
|
||
Str.11831 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | LOC100001725 30 |
|
||
EMILIN2 (2 of 2) 31 |
|
OneToMany | |||
emilin2a 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 18 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
710514 | Benign: not provided | 2,908,958(+) | C/T | MISSENSE_VARIANT | |
725645 | Benign: not provided | 2,891,375(+) | C/T | SYNONYMOUS_VARIANT | |
726118 | Likely Benign: not provided | 2,890,820(+) | G/A | SYNONYMOUS_VARIANT | |
726343 | Benign: not provided | 2,891,492(+) | A/G | SYNONYMOUS_VARIANT | |
743337 | Benign: not provided | 2,890,718(+) | G/A | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1007840 | CNV | deletion | 20482838 |
esv1259581 | CNV | deletion | 17803354 |
esv2178988 | CNV | deletion | 18987734 |
esv2716681 | CNV | deletion | 23290073 |
esv2761986 | CNV | gain | 21179565 |
esv3554962 | CNV | deletion | 23714750 |
esv3641577 | CNV | loss | 21293372 |
esv3641578 | CNV | loss | 21293372 |
nsv1062247 | CNV | gain | 25217958 |
nsv1112153 | CNV | deletion | 24896259 |
nsv1138595 | CNV | deletion | 24896259 |
nsv1143694 | CNV | deletion | 24896259 |
nsv1149493 | CNV | deletion | 26484159 |
nsv1152529 | CNV | duplication | 26484159 |
nsv2189 | CNV | deletion | 18451855 |
nsv482935 | CNV | loss | 15286789 |
nsv576251 | CNV | gain | 21841781 |
nsv576312 | CNV | loss | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
porokeratosis |
|
|