Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 9770
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol RASSF2   Gene   UCSC   Ensembl
Aliases CENP-34, RASFADIN
Gene name Ras association domain family member 2
Alternate names ras association domain-containing protein 2, Ras association (RalGDS/AF-6) domain family 2, Ras association (RalGDS/AF-6) domain family member 2, centromere protein 34,
Gene location 20p13 (4823667: 4780022)     Exons: 15     NC_000020.11
Gene summary(Entrez) This gene encodes a protein that contains a Ras association domain. Similar to its cattle and sheep counterparts, this gene is located near the prion gene. Two alternatively spliced transcripts encoding the same isoform have been reported. [provided by RefSeq, Jul 2008]
OMIM 609492

Protein Summary

Protein general information P50749  

Name: Ras association domain containing protein 2

Length: 326  Mass: 37,790

Tissue specificity: Widely expressed with highest levels in brain, placenta, peripheral blood and lung. Frequently down-regulated in lung tumor cell lines. {ECO

Sequence MDYSHQTSLVPCGQDKYISKNELLLHLKTYNLYYEGQNLQLRHREEEDEFIVEGLLNISWGLRRPIRLQMQDDNE
RIRPPPSSSSWHSGCNLGAQGTTLKPLTVPKVQISEVDAPPEGDQMPSSTDSRGLKPLQEDTPQLMRTRSDVGVR
RRGNVRTPSDQRRIRRHRFSINGHFYNHKTSVFTPAYGSVTNVRINSTMTTPQVLKLLLNKFKIENSAEEFALYV
VHTSGEKQKLKATDYPLIARILQGPCEQISKVFLMEKDQVEEVTYDVAQYIKFEMPVLKSFIQKLQEEEDREVKK
LMRKYTVLRLMIRQRLEEIAETPATI
Structural information
Protein Domains
Ras-associating. (176-264)
SARAH. (272-319)
Interpro:  IPR033614 IPR000159 IPR033618 IPR011524 IPR029071
Prosite:   PS50200 PS50951

Pfam:  
PF16517 PF00788
MINT:   6773106
STRING:   ENSP00000368684;
Other Databases GeneCards:  RASSF2;  Malacards:  RASSF2

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0001501 skeletal system developme
nt
IEA biological_process
GO:0001503 ossification
IEA biological_process
GO:0004672 protein kinase activity
IGI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005634 nucleus
IDA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0006468 protein phosphorylation
IEA biological_process
GO:0007049 cell cycle
IEA biological_process
GO:0031954 positive regulation of pr
otein autophosphorylation
IDA biological_process
GO:0033137 negative regulation of pe
ptidyl-serine phosphoryla
tion
IDA biological_process
GO:0038168 epidermal growth factor r
eceptor signaling pathway
via I-kappaB kinase/NF-k
appaB cascade
IEA biological_process
GO:0043065 positive regulation of ap
optotic process
IDA biological_process
GO:0043234 protein complex
IDA cellular_component
GO:0045667 regulation of osteoblast
differentiation
IEA biological_process
GO:0045670 regulation of osteoclast
differentiation
IEA biological_process
GO:0045860 positive regulation of pr
otein kinase activity
IDA biological_process
GO:0046330 positive regulation of JN
K cascade
IDA biological_process
GO:0046849 bone remodeling
IEA biological_process
GO:0048872 homeostasis of number of
cells
IEA biological_process
GO:0050821 protein stabilization
IMP biological_process
GO:1901223 negative regulation of NI
K/NF-kappaB signaling
IEA biological_process
GO:0001501 skeletal system developme
nt
IEA biological_process
GO:0001503 ossification
IEA biological_process
GO:0004672 protein kinase activity
IGI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005634 nucleus
IEA cellular_component
GO:0005634 nucleus
IEA cellular_component
GO:0005634 nucleus
IEA cellular_component
GO:0005634 nucleus
IDA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0006468 protein phosphorylation
IEA biological_process
GO:0007049 cell cycle
IEA biological_process
GO:0007165 signal transduction
IEA biological_process
GO:0031954 positive regulation of pr
otein autophosphorylation
IDA biological_process
GO:0033137 negative regulation of pe
ptidyl-serine phosphoryla
tion
IDA biological_process
GO:0038168 epidermal growth factor r
eceptor signaling pathway
via I-kappaB kinase/NF-k
appaB cascade
IEA biological_process
GO:0043065 positive regulation of ap
optotic process
IDA biological_process
GO:0043234 protein complex
IDA cellular_component
GO:0045667 regulation of osteoblast
differentiation
IEA biological_process
GO:0045670 regulation of osteoclast
differentiation
IEA biological_process
GO:0045860 positive regulation of pr
otein kinase activity
IDA biological_process
GO:0046330 positive regulation of JN
K cascade
IDA biological_process
GO:0046849 bone remodeling
IEA biological_process
GO:0048872 homeostasis of number of
cells
IEA biological_process
GO:0050821 protein stabilization
IMP biological_process
GO:1901222 regulation of NIK/NF-kapp
aB signaling
IEA biological_process
GO:1901223 negative regulation of NI
K/NF-kappaB signaling
IEA biological_process
GO:0004672 protein kinase activity
IGI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005634 nucleus
IDA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0031954 positive regulation of pr
otein autophosphorylation
IDA biological_process
GO:0033137 negative regulation of pe
ptidyl-serine phosphoryla
tion
IDA biological_process
GO:0043065 positive regulation of ap
optotic process
IDA biological_process
GO:0043234 protein complex
IDA cellular_component
GO:0045860 positive regulation of pr
otein kinase activity
IDA biological_process
GO:0046330 positive regulation of JN
K cascade
IDA biological_process
GO:0050821 protein stabilization
IMP biological_process

KEGG pathways

hsa04392  Hippo signaling pathway -multiple species

Diseases

Associated diseases References
Endometriosis (ovarian) PMID: 25298284
Endometriosis-associated ovarian carcinoma, Ovarian endometrioid cancer (OEC) and ovarian clear cell cancer (OCCC) INFBASE25298284
Ovarian endometriosis INFBASE25298284
Ovarian endometriosis PMID: 25298284

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
25298284 Endometrio
sis (ovari
an)

50 (30 EMS-asso
ciated ovarian
carcinoma (18 O
varian endometr
ioid cancer, 12
ovarian clear
cell cancer), 2
0 normal endome
trial specimens
)
RASSF2
RUNX3
GSTZ1
CYP2A
GBGT1
NDUFS1
SPOCK2
ADAM22
and TRIM36
Show abstract