======= PEX12 ======= == Gene Information == * **Official Symbol**: PEX12 * **Official Name**: peroxisomal biogenesis factor 12 * **Aliases and Previous Symbols**: N/A * **Entrez ID**: [[https://www.ncbi.nlm.nih.gov/gene/?term=5193|5193]] * **UniProt**: [[https://www.uniprot.org/uniprot/O00623|O00623]] * **Interactions**: [[https://thebiogrid.org/search.php?search=PEX12&organism=9606|BioGRID]] * **PubMed articles**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20PEX12|Open PubMed]] * **OMIM**: [[https://omim.org/entry/601758|Open OMIM]] == Function Summary == * **Entrez Summary**: This gene belongs to the peroxin-12 family. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of Zellweger syndrome (ZWS). [provided by RefSeq, Oct 2008]. * **UniProt Summary**: Required for protein import into peroxisomes. {ECO:0000269|PubMed:9632816}. |Pex2 Pex12| |peroxisomal importomer complex| |protein import into peroxisome matrix| |integral component of peroxisomal membrane| |peroxisomal membrane transport| |protein transmembrane import into intracellular organelle| |intracellular protein transmembrane transport| |peroxisomal membrane| |protein transmembrane transport| |protein monoubiquitination| |establishment of protein localization to peroxisome| |protein targeting to peroxisome| |protein localization to peroxisome| |peroxisomal transport| |peroxisome organization| |peroxisome| |protein import| |protein C-terminus binding| |ubiquitin-protein transferase activity| |protein targeting| |establishment of protein localization to organelle| |protein ubiquitination| |protein localization to organelle| |protein modification by small protein conjugation| |zinc ion binding| |protein modification by small protein conjugation or removal| |intracellular protein transport| |transmembrane transport| |protein transport| |intracellular transport| |peptide transport| |amide transport| |cellular protein localization| |cellular macromolecule localization| |establishment of protein localization| |establishment of localization in cell| |nitrogen compound transport| \\ === CRISPR Data === ^Screen^Score^ |[[:results:exp416|Tubacin 1.6μM R07 exp416]]|-2.57| |[[:results:exp180|Dynasore 10μM R04 exp180]]|-2.18| |[[:results:exp436|Dynasore 7μM R08 exp436]]|-1.96| |[[:results:exp407|Thapsigargin 0.005μM R07 exp407]]|-1.89| |[[:results:exp40|2-Methoxyestradiol 0.2μM R01 exp40]]|-1.71| |[[:results:exp496|Lead acetate 990μM R08 exp496]]|1.7| |[[:results:exp246|UM0011500 10μM R05 exp246]]|2| |[[:results:exp215|Colchicine 0.009μM R05 exp215]]|2.56| |[[:results:exp226|Cerivastatin 0.15μM R05 exp226]]|2.73| |[[:results:exp230|Epigallocatechin gallate 20μM R05 exp230]]|2.77| |[[:results:exp282|Fluvastatin 2.2μM R06 exp282]]|2.85| ^Gene^Correlation^ |[[:human genes:p:pex1|PEX1]]|0.636| |[[:human genes:p:pex13|PEX13]]|0.573| |[[:human genes:p:pex5|PEX5]]|0.552| |[[:human genes:p:pex6|PEX6]]|0.55| |[[:human genes:p:pex7|PEX7]]|0.537| |[[:human genes:p:pex10|PEX10]]|0.516| |[[:human genes:p:pex2|PEX2]]|0.513| |[[:human genes:p:pex3|PEX3]]|0.493| |[[:human genes:p:pex26|PEX26]]|0.492| |[[:human genes:a:acsl4|ACSL4]]|0.475| |[[:human genes:a:agps|AGPS]]|0.473| |[[:human genes:p:pex14|PEX14]]|0.448| |[[:human genes:p:pex19|PEX19]]|0.412| Global Fraction of Cell Lines Where Essential: 0/739 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|0/1| |909776.0|0/1| |bile duct|0/28| |blood|0/28| |bone|0/26| |breast|0/33| |central nervous system|0/56| |cervix|0/4| |colorectal|0/17| |esophagus|0/13| |fibroblast|0/1| |gastric|0/16| |kidney|0/21| |liver|0/20| |lung|0/75| |lymphocyte|0/16| |ovary|0/26| |pancreas|0/24| |peripheral nervous system|0/16| |plasma cell|0/15| |prostate|0/1| |skin|0/24| |soft tissue|0/9| |thyroid|0/2| |upper aerodigestive|0/22| |urinary tract|0/29| |uterus|0/5| == Essentiality in NALM6 == * **Essentiality Rank**: 4540 * **Expression level (log2 read counts)**: 2.86 {{:chemogenomics:nalm6 dist.png?nolink |}}