Free for academic non-profit institutions. Other users need a Commercial license
SMIM21 (Small Integral Membrane Protein 21) is a Protein Coding gene. Diseases associated with SMIM21 include Vertical Talus, Congenital and Chromosome 18Q Deletion Syndrome.
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 |
---|---|---|---|---|---|---|---|---|---|---|
GH18J075454 | Promoter/Enhancer | 1.5 | Ensembl ENCODE CraniofacialAtlas | 250.7 | -0.1 | -71 | 2.6 | FOXA2 SPI1 BHLHE40 ZFX EZH2 | ENSG00000266774 LOC107985177 SMIM21 TSHZ1 ENSG00000286603 lnc-TSHZ1-4 LOC105372204 | |
GH18J075430 | Enhancer | 0.8 | FANTOM5 | 27.1 | +25.5 | 25463 | 0.2 | FEZF1 ZEB1 ZIC2 ZNF639 ZNF843 KLF9 BCL11B KLF16 ZFP37 INSM2 | HSALNG0122506 SMIM21 piR-48035 lnc-TSHZ1-4 TSHZ1 | |
GH18J075364 | Enhancer | 0.6 | Ensembl ENCODE | 11 | +90.9 | 90852 | 1.6 | ATF2 CREB1 ATF7 | SMIM21 ENSG00000276993 HSALNG0122500 TSHZ1 | |
GH18J075391 | Enhancer | 0.4 | Ensembl CraniofacialAtlas | 11.5 | +64.0 | 64029 | 1.2 | POLR2A | HSALNG0122502-002 SMIM21 HSALNG0122502-001 TSHZ1 | |
GH18J075360 | Enhancer | 0.4 | Ensembl | 11 | +95.3 | 95252 | 1.2 | RXRA GLIS1 NR2F2 | SMIM21 CNDP2 ENSG00000276993 HSALNG0122500 TSHZ1 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 32296183 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
This gene was present in the common ancestor of human and chimp.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SMIM21 30 31 |
|
OneToOne |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3583154 | CNV | loss | 25503493 |
esv3643133 | CNV | loss | 21293372 |
Disorder | Aliases | PubMed IDs |
---|---|---|
vertical talus, congenital |
|
|
chromosome 18q deletion syndrome |
|
|