Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 30968
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol STOML2   Gene   UCSC   Ensembl
Aliases HSPC108, SLP-2
Gene name stomatin like 2
Alternate names stomatin-like protein 2, mitochondrial, EPB72-like 2, EPB72-like protein 2, paraprotein target 7, paratarg-7, stomatin (EPB72)-like 2,
Gene location 9p13.3 (35103194: 35099775)     Exons: 10     NC_000009.12
OMIM 608292

Protein Summary

Protein general information Q9UJZ1  

Name: Stomatin like protein 2, mitochondrial (SLP 2) (EPB72 like protein 2) (Paraprotein target 7) (Paratarg 7)

Length: 356  Mass: 38,534

Tissue specificity: Ubiquitously expressed at low levels. Expressed in lymphoid tissues (at protein level). {ECO

Sequence MLARAARGTGALLLRGSLLASGRAPRRASSGLPRNTVVLFVPQQEAWVVERMGRFHRILEPGLNILIPVLDRIRY
VQSLKEIVINVPEQSAVTLDNVTLQIDGVLYLRIMDPYKASYGVEDPEYAVTQLAQTTMRSELGKLSLDKVFRER
ESLNASIVDAINQAADCWGIRCLRYEIKDIHVPPRVKESMQMQVEAERRKRATVLESEGTRESAINVAEGKKQAQ
ILASEAEKAEQINQAAGEASAVLAKAKAKAEAIRILAAALTQHNGDAAASLTVAEQYVSAFSKLAKDSNTILLPS
NPGDVTSMVAQAMGVYGALTKAPVPGTPDSLSSGSSRDVQGTDASLDEELDRVKMS
Structural information
Interpro:  IPR001107 IPR032435 IPR001972

Pfam:  
PF01145 PF16200
MINT:   2999996
STRING:   ENSP00000348886;
Other Databases GeneCards:  STOML2;  Malacards:  STOML2

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0005102 receptor binding
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005743 mitochondrial inner membr
ane
IDA cellular_component
GO:0005758 mitochondrial intermembra
ne space
IDA cellular_component
GO:0005856 cytoskeleton
TAS cellular_component
GO:0006851 mitochondrial calcium ion
transport
IMP biological_process
GO:0006874 cellular calcium ion home
ostasis
IMP biological_process
GO:0007005 mitochondrion organizatio
n
IMP biological_process
GO:0010876 lipid localization
ISS biological_process
GO:0010918 positive regulation of mi
tochondrial membrane pote
ntial
IMP biological_process
GO:0019897 extrinsic component of pl
asma membrane
IDA cellular_component
GO:0032623 interleukin-2 production
ISS biological_process
GO:0034982 mitochondrial protein pro
cessing
ISS biological_process
GO:0035710 CD4-positive, alpha-beta
T cell activation
ISS biological_process
GO:0042776 mitochondrial ATP synthes
is coupled proton transpo
rt
IMP biological_process
GO:0045121 membrane raft
IDA cellular_component
GO:0050852 T cell receptor signaling
pathway
IMP biological_process
GO:0051020 GTPase binding
IPI molecular_function
GO:0051259 protein oligomerization
IDA biological_process
GO:0090297 positive regulation of mi
tochondrial DNA replicati
on
IMP biological_process
GO:1900210 positive regulation of ca
rdiolipin metabolic proce
ss
IMP biological_process
GO:1901612 cardiolipin binding
IDA molecular_function
GO:1990046 stress-induced mitochondr
ial fusion
ISS biological_process
GO:0001772 immunological synapse
IDA cellular_component
GO:0008180 COP9 signalosome
IDA cellular_component
GO:0015629 actin cytoskeleton
IDA cellular_component
GO:0042101 T cell receptor complex
IDA cellular_component
GO:0005102 receptor binding
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005737 cytoplasm
IEA cellular_component
GO:0005739 mitochondrion
IEA cellular_component
GO:0005739 mitochondrion
IEA cellular_component
GO:0005739 mitochondrion
IEA cellular_component
GO:0005743 mitochondrial inner membr
ane
IEA cellular_component
GO:0005743 mitochondrial inner membr
ane
IEA cellular_component
GO:0005743 mitochondrial inner membr
ane
IEA cellular_component
GO:0005743 mitochondrial inner membr
ane
IDA cellular_component
GO:0005758 mitochondrial intermembra
ne space
IEA cellular_component
GO:0005758 mitochondrial intermembra
ne space
IDA cellular_component
GO:0005856 cytoskeleton
IEA cellular_component
GO:0005856 cytoskeleton
IEA cellular_component
GO:0005856 cytoskeleton
TAS cellular_component
GO:0005886 plasma membrane
IEA cellular_component
GO:0005886 plasma membrane
IEA cellular_component
GO:0006851 mitochondrial calcium ion
transport
IMP biological_process
GO:0006874 cellular calcium ion home
ostasis
IMP biological_process
GO:0007005 mitochondrion organizatio
n
IMP biological_process
GO:0008289 lipid binding
IEA molecular_function
GO:0010876 lipid localization
IEA biological_process
GO:0010876 lipid localization
ISS biological_process
GO:0010918 positive regulation of mi
tochondrial membrane pote
ntial
IMP biological_process
GO:0016020 membrane
IEA cellular_component
GO:0016020 membrane
IEA cellular_component
GO:0019897 extrinsic component of pl
asma membrane
IEA cellular_component
GO:0019897 extrinsic component of pl
asma membrane
IDA cellular_component
GO:0032623 interleukin-2 production
IEA biological_process
GO:0032623 interleukin-2 production
ISS biological_process
GO:0034982 mitochondrial protein pro
cessing
IEA biological_process
GO:0034982 mitochondrial protein pro
cessing
ISS biological_process
GO:0035710 CD4-positive, alpha-beta
T cell activation
IEA biological_process
GO:0035710 CD4-positive, alpha-beta
T cell activation
ISS biological_process
GO:0042776 mitochondrial ATP synthes
is coupled proton transpo
rt
IEA biological_process
GO:0042776 mitochondrial ATP synthes
is coupled proton transpo
rt
IMP biological_process
GO:0045121 membrane raft
IEA cellular_component
GO:0045121 membrane raft
IDA cellular_component
GO:0050852 T cell receptor signaling
pathway
IMP biological_process
GO:0051020 GTPase binding
IPI molecular_function
GO:0051259 protein oligomerization
IDA biological_process
GO:0090297 positive regulation of mi
tochondrial DNA replicati
on
IMP biological_process
GO:1900210 positive regulation of ca
rdiolipin metabolic proce
ss
IMP biological_process
GO:1901612 cardiolipin binding
IDA molecular_function
GO:1990046 stress-induced mitochondr
ial fusion
IEA biological_process
GO:1990046 stress-induced mitochondr
ial fusion
ISS biological_process
GO:0001772 immunological synapse
IDA cellular_component
GO:0008180 COP9 signalosome
IDA cellular_component
GO:0015629 actin cytoskeleton
IDA cellular_component
GO:0042101 T cell receptor complex
IDA cellular_component
GO:0005102 receptor binding
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005743 mitochondrial inner membr
ane
IDA cellular_component
GO:0005758 mitochondrial intermembra
ne space
IDA cellular_component
GO:0005856 cytoskeleton
TAS cellular_component
GO:0006851 mitochondrial calcium ion
transport
IMP biological_process
GO:0006874 cellular calcium ion home
ostasis
IMP biological_process
GO:0007005 mitochondrion organizatio
n
IMP biological_process
GO:0010876 lipid localization
ISS biological_process
GO:0010918 positive regulation of mi
tochondrial membrane pote
ntial
IMP biological_process
GO:0019897 extrinsic component of pl
asma membrane
IDA cellular_component
GO:0032623 interleukin-2 production
ISS biological_process
GO:0034982 mitochondrial protein pro
cessing
ISS biological_process
GO:0035710 CD4-positive, alpha-beta
T cell activation
ISS biological_process
GO:0042776 mitochondrial ATP synthes
is coupled proton transpo
rt
IMP biological_process
GO:0045121 membrane raft
IDA cellular_component
GO:0050852 T cell receptor signaling
pathway
IMP biological_process
GO:0051020 GTPase binding
IPI molecular_function
GO:0051259 protein oligomerization
IDA biological_process
GO:0090297 positive regulation of mi
tochondrial DNA replicati
on
IMP biological_process
GO:1900210 positive regulation of ca
rdiolipin metabolic proce
ss
IMP biological_process
GO:1901612 cardiolipin binding
IDA molecular_function
GO:1990046 stress-induced mitochondr
ial fusion
ISS biological_process
GO:0001772 immunological synapse
IDA cellular_component
GO:0008180 COP9 signalosome
IDA cellular_component
GO:0015629 actin cytoskeleton
IDA cellular_component
GO:0042101 T cell receptor complex
IDA cellular_component

Diseases

Associated diseases References
Endometriosis PMID: 22158085
Endometriosis INFBASE22158085

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
22158085 Endometrio
sis

147 (35 early e
ndometriosis, 5
5 advanced endo
metriosis, 57 w
ithout endometr
iosis)
SLP2
Show abstract