Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 81617
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol CAB39L   Gene   UCSC   Ensembl
Aliases MO25-BETA, MO2L, bA103J18.3
Gene name calcium binding protein 39 like
Alternate names calcium-binding protein 39-like, MO25beta, U937-associated antigen, antigen MLAA-34, mo25-like protein, sarcoma antigen NY-SAR-79,
Gene location 13q14.2 (49444345: 49308627)     Exons: 16     NC_000013.11
OMIM 612175

Protein Summary

Protein general information Q9H9S4  

Name: Calcium binding protein 39 like (Antigen MLAA 34) (MO25beta) (Mo25 like protein)

Length: 337  Mass: 39,088

Sequence MKKMPLFSKSHKNPAEIVKILKDNLAILEKQDKKTDKASEEVSKSLQAMKEILCGTNEKEPPTEAVAQLAQELYS
SGLLVTLIADLQLIDFEGKKDVTQIFNNILRRQIGTRSPTVEYISAHPHILFMLLKGYEAPQIALRCGIMLRECI
RHEPLAKIILFSNQFRDFFKYVELSTFDIASDAFATFKDLLTRHKVLVADFLEQNYDTIFEDYEKLLQSENYVTK
RQSLKLLGELILDRHNFAIMTKYISKPENLKLMMNLLRDKSPNIQFEAFHVFKVFVASPHKTQPIVEILLKNQPK
LIEFLSSFQKERTDDEQFADEKNYLIKQIRDLKKTAP
Structural information
Interpro:  IPR011989 IPR016024 IPR013878

Pfam:  
PF08569

PDB:  
3ZHP
PDBsum:   3ZHP
STRING:   ENSP00000261669;
Other Databases GeneCards:  CAB39L;  Malacards:  CAB39L

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0005515 protein binding
IPI molecular_function
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0007050 cell cycle arrest
TAS biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0005515 protein binding
IPI molecular_function
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0007050 cell cycle arrest
TAS biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0005515 protein binding
IPI molecular_function
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0007050 cell cycle arrest
TAS biological_process
GO:0070062 extracellular exosome
IDA cellular_component

KEGG pathways

hsa04152  AMPK signaling pathway
hsa04150  mTOR signaling pathway

Diseases

Associated diseases References
Endometriosis PMID: 25296917
Pelvic pain PMID: 25296917
Subfertility INFBASE25296917
Endometriosis INFBASE25296917

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
25296917 Endometrio
sis
rs12700667, WNT4 (rs7521902), rs1055144, GRB14 (rs10195252), PPARG (rs4684854), ITPR2-SSPN ( rs718314), CPEB4 (rs6861681), ADAMTS9 (rs6795735), LYPLAL1 (rs2820446 ), NISCH-STAB1 (rs498778), LY86 (rs1294421), RSPO3 (rs9491696), HOXC13 (rs1443512), TBX15-WA Europea
n
10254 (3194 cas
es including 13
64 Stage B case
s, 7060 control
s)
GRB14
KIFAP3
WNT4
CAB39L
Show abstract