POM121L2 (POM121 transmembrane nucleoporin like 2)

Gene
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
94026
Gene name Gene Name - the full gene name approved by the HGNC.
POM121 transmembrane nucleoporin like 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
POM121L2
Synonyms (NCBI Gene) Gene synonyms aliases
POM121-L, POM121L
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p22.1
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(5)
GO ID Ontology Definition Evidence Reference
GO:0005643 Component Nuclear pore IBA 21873635
GO:0006405 Process RNA export from nucleus IBA 21873635
GO:0006606 Process Protein import into nucleus IBA 21873635
GO:0008139 Function Nuclear localization sequence binding IBA 21873635
GO:0017056 Function Structural constituent of nuclear pore IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q96KW2
Protein name POM121-like protein 2
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15229 POM121 164 → 311 Family
PF15229 POM121 306 → 365 Family
Sequence 
MGSFLSKLELSPSSPAQVRTDLPERPTKRRPPQPLHQVHRVQFVHRAHPAPRYRPVRRRP
NLDPANPTTWLANEAWRRFPMKKSQNSPLGPLPSDWWESYLKRTIWSLRHPRPIWSPVTI
RITPPDQRVPPSTSPEDVIALAGLPPSEELADPCSKETVLRALRECRKGKGRLEEPLFPE
SLDSKRRSPETRPSAFKPLMKNGTLTSFVPRPGPLKRSLHSWGSDHSLTKRPNCSSMSSL
ASIYRGGTLSSKRNAIGSSYSSCRNFSDPWKRSVPSVSFETPEWPIKKEKSCHRPSSPVP
LVSDFESLGGSESSGQQNQKIPQLPSSPENLVSEIPPPQLGYAVSDENLTLGKKAELQVS
NNAGEDTTEVNTDPFPETWLAIQPSLSLALPSSETDLTQGANPQLENLRKMQKSLGPLAS
PQSTGEATSVAHSPLKTPSLPTPPGCSQSELLPGTSPDSKPTATFILLTPTSPTLPVTDT
TWPPSTSQADRSPMPPDPPAPPTIQSTLLGMVSSPTSHLSASAPPDATSAHLMLKPILGP
LHNSEIGSSSYSRISVTAAASSISSLSTIQGTLTPTFKPIFGSIDPLKTTPMIAPFSSKQ
TPPPFTHASTHHFHGLVKATSVVMSTTLASTSKDSVFKPPLDFGVVNVTSAVGNTYSVPS
TCDTFLLGTAQAFRADFTPATGFIFPPHHHPTIPTVHTVTMFTQVLSSVVQISPRSSTAN
FRGMGSPLPASALVSTNWLASTPSISNLTPAITSPLGSSSRPPFPLSQGANPQPAFGATN
GQKQGPSQPALMPSVSSSFLFGSSAVALPTPMPTPAQPAFISTTQSALGCLTPSASTSQT
PASTWSGIGGIPAGFPISQASTTGFRIVIQTHQSGAFGSVFGSRAPQPFTFGGFVTPMDC
DESGIIMTGPDMSPTSGAFSIGALPSGTTNTMIPFGKGWSQNTEGLPSHRTAFSLGRGSI
SARKTMAPIAQNTPVPGQAKAGSSVGFGMPFPPAQGSVGRGPFRSSASSFSIGAKSKTPK
NREKGHSRRHHAYKK
Sequence length 1035
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  
  Nucleocytoplasmic transport
Amyotrophic lateral sclerosis 		 
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal
Disease term Disease name dbSNP ID References
Breast carcinoma Breast Carcinoma rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451
View all (71 more)		 29059683
Schizophrenia Schizophrenia rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346
View all (12 more)		 28540026, 30285260, 26198764, 23894747, 19571809, 21926974
Show/Hide Unknown Diseases (6)
Unknown
Disease term Disease name Evidence References Source
Asthma Asthma 31619474 ClinVar
Mental depression Major Depressive Disorder 31619474 ClinVar
Neuroticism Neuroticism GWAS
Breast Cancer Breast Cancer Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients GWAS, CBGDA