Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 960
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol CD44   Gene   UCSC   Ensembl
Aliases CDW44, CSPG8, ECMR-III, HCELL, HUTCH-I, IN, LHR, MC56, MDU2, MDU3, MIC4, Pgp1
Gene name CD44 molecule (Indian blood group)
Alternate names CD44 antigen, GP90 lymphocyte homing/adhesion receptor, Hermes antigen, cell surface glycoprotein CD44, chondroitin sulfate proteoglycan 8, epican, extracellular matrix receptor III, hematopoietic cell E- and L-selectin ligand, heparan sulfate proteoglycan, homing,
Gene location 11p13 (35138869: 35232401)     Exons: 21     NC_000011.10
Gene summary(Entrez) The protein encoded by this gene is a cell-surface glycoprotein involved in cell-cell interactions, cell adhesion and migration. It is a receptor for hyaluronic acid (HA) and can also interact with other ligands, such as osteopontin, collagens, and matrix metalloproteinases (MMPs). This protein participates in a wide variety of cellular functions including lymphocyte activation, recirculation and homing, hematopoiesis, and tumor metastasis. Transcripts for this gene undergo complex alternative splicing that results in many functionally distinct isoforms, however, the full length nature of some of these variants has not been determined. Alternative splicing is the basis for the structural and functional diversity of this protein, and may be related to tumor metastasis. [provided by RefSeq, Jul 2008]
OMIM 107269

Protein Summary

Protein general information P16070  

Name: CD44 antigen (CDw44) (Epican) (Extracellular matrix receptor III) (ECMR III) (GP90 lymphocyte homing/adhesion receptor) (HUTCH I) (Heparan sulfate proteoglycan) (Hermes antigen) (Hyaluronate receptor) (Phagocytic glycoprotein 1) (PGP 1) (Phagocytic glycop

Length: 742  Mass: 81,538

Tissue specificity: Isoform 10 (epithelial isoform) is expressed by cells of epithelium and highly expressed by carcinomas. Expression is repressed in neuroblastoma cells.

Sequence MDKFWWHAAWGLCLVPLSLAQIDLNITCRFAGVFHVEKNGRYSISRTEAADLCKAFNSTLPTMAQMEKALSIGFE
TCRYGFIEGHVVIPRIHPNSICAANNTGVYILTSNTSQYDTYCFNASAPPEEDCTSVTDLPNAFDGPITITIVNR
DGTRYVQKGEYRTNPEDIYPSNPTDDDVSSGSSSERSSTSGGYIFYTFSTVHPIPDEDSPWITDSTDRIPATTLM
STSATATETATKRQETWDWFSWLFLPSESKNHLHTTTQMAGTSSNTISAGWEPNEENEDERDRHLSFSGSGIDDD
EDFISSTISTTPRAFDHTKQNQDWTQWNPSHSNPEVLLQTTTRMTDVDRNGTTAYEGNWNPEAHPPLIHHEHHEE
EETPHSTSTIQATPSSTTEETATQKEQWFGNRWHEGYRQTPKEDSHSTTGTAAASAHTSHPMQGRTTPSPEDSSW
TDFFNPISHPMGRGHQAGRRMDMDSSHSITLQPTANPNTGLVEDLDRTGPLSMTTQQSNSQSFSTSHEGLEEDKD
HPTTSTLTSSNRNDVTGGRRDPNHSEGSTTLLEGYTSHYPHTKESRTFIPVTSAKTGSFGVTAVTVGDSNSNVNR
SLSGDQDTFHPSGGSHTTHGSESDGHSHGSQEGGANTTSGPIRTPQIPEWLIILASLLALALILAVCIAVNSRRR
CGQKKKLVINSGNGAVEDRKPSGLNGEASKSQEMVHLVNKESSETPDQFMTADETRNLQNVDMKIGV
Structural information
Protein Domains
Link. (32-120)
Interpro:  IPR016186 IPR001231 IPR016187 IPR000538
Prosite:   PS01241 PS50963

Pfam:  
PF00193

PDB:  
1POZ 1UUH 2I83 4PZ3 4PZ4
PDBsum:   1POZ 1UUH 2I83 4PZ3 4PZ4

DIP:  
1121
MINT:   5000740
STRING:   ENSP00000398632;
Other Databases GeneCards:  CD44;  Malacards:  CD44

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0004415 hyalurononglucosaminidase
activity
IDA 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:0005518 collagen binding
NAS molecular_function
GO:0005540 hyaluronic acid binding
IDA molecular_function
GO:0005540 hyaluronic acid binding
IDA molecular_function
GO:0005540 hyaluronic acid binding
NAS molecular_function
GO:0005737 cytoplasm
IDA cellular_component
GO:0005794 Golgi apparatus
IDA cellular_component
GO:0005886 plasma membrane
IDA cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005887 integral component of pla
sma membrane
NAS cellular_component
GO:0005925 focal adhesion
IDA cellular_component
GO:0007160 cell-matrix adhesion
NAS biological_process
GO:0009986 cell surface
IDA cellular_component
GO:0009986 cell surface
IDA cellular_component
GO:0016337 single organismal cell-ce
ll adhesion
NAS biological_process
GO:0022617 extracellular matrix disa
ssembly
TAS biological_process
GO:0030198 extracellular matrix orga
nization
TAS biological_process
GO:0030214 hyaluronan catabolic proc
ess
IDA biological_process
GO:0030214 hyaluronan catabolic proc
ess
TAS biological_process
GO:0033138 positive regulation of pe
ptidyl-serine phosphoryla
tion
IDA biological_process
GO:0034116 positive regulation of he
terotypic cell-cell adhes
ion
IMP biological_process
GO:0035692 macrophage migration inhi
bitory factor receptor co
mplex
IDA cellular_component
GO:0043066 negative regulation of ap
optotic process
IMP biological_process
GO:0043154 negative regulation of cy
steine-type endopeptidase
activity involved in apo
ptotic process
IMP biological_process
GO:0043518 negative regulation of DN
A damage response, signal
transduction by p53 clas
s mediator
IDA biological_process
GO:0044344 cellular response to fibr
oblast growth factor stim
ulus
IDA biological_process
GO:0050731 positive regulation of pe
ptidyl-tyrosine phosphory
lation
IDA biological_process
GO:0050900 leukocyte migration
TAS biological_process
GO:0051216 cartilage development
IEP biological_process
GO:0060333 interferon-gamma-mediated
signaling pathway
TAS biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070374 positive regulation of ER
K1 and ERK2 cascade
IDA biological_process
GO:0070487 monocyte aggregation
IMP biological_process
GO:1900625 positive regulation of mo
nocyte aggregation
IMP biological_process
GO:1902166 negative regulation of in
trinsic apoptotic signali
ng pathway in response to
DNA damage by p53 class
mediator
IDA biological_process
GO:0004896 cytokine receptor activit
y
IDA molecular_function
GO:0004415 hyalurononglucosaminidase
activity
IDA 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:0005518 collagen binding
NAS molecular_function
GO:0005540 hyaluronic acid binding
IEA molecular_function
GO:0005540 hyaluronic acid binding
IDA molecular_function
GO:0005540 hyaluronic acid binding
IDA molecular_function
GO:0005540 hyaluronic acid binding
NAS molecular_function
GO:0005737 cytoplasm
IDA cellular_component
GO:0005794 Golgi apparatus
IDA cellular_component
GO:0005886 plasma membrane
IEA cellular_component
GO:0005886 plasma membrane
IEA cellular_component
GO:0005886 plasma membrane
IDA cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005887 integral component of pla
sma membrane
NAS cellular_component
GO:0005925 focal adhesion
IDA cellular_component
GO:0007155 cell adhesion
IEA biological_process
GO:0007155 cell adhesion
IEA biological_process
GO:0007160 cell-matrix adhesion
NAS biological_process
GO:0009986 cell surface
IDA cellular_component
GO:0009986 cell surface
IDA cellular_component
GO:0016020 membrane
IEA cellular_component
GO:0016021 integral component of mem
brane
IEA cellular_component
GO:0016021 integral component of mem
brane
IEA cellular_component
GO:0016337 single organismal cell-ce
ll adhesion
NAS biological_process
GO:0022617 extracellular matrix disa
ssembly
TAS biological_process
GO:0030198 extracellular matrix orga
nization
TAS biological_process
GO:0030214 hyaluronan catabolic proc
ess
IDA biological_process
GO:0030214 hyaluronan catabolic proc
ess
TAS biological_process
GO:0033138 positive regulation of pe
ptidyl-serine phosphoryla
tion
IDA biological_process
GO:0034116 positive regulation of he
terotypic cell-cell adhes
ion
IMP biological_process
GO:0035692 macrophage migration inhi
bitory factor receptor co
mplex
IDA cellular_component
GO:0043066 negative regulation of ap
optotic process
IMP biological_process
GO:0043154 negative regulation of cy
steine-type endopeptidase
activity involved in apo
ptotic process
IMP biological_process
GO:0043518 negative regulation of DN
A damage response, signal
transduction by p53 clas
s mediator
IDA biological_process
GO:0044344 cellular response to fibr
oblast growth factor stim
ulus
IDA biological_process
GO:0050731 positive regulation of pe
ptidyl-tyrosine phosphory
lation
IDA biological_process
GO:0050900 leukocyte migration
TAS biological_process
GO:0051216 cartilage development
IEP biological_process
GO:0060333 interferon-gamma-mediated
signaling pathway
TAS biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070374 positive regulation of ER
K1 and ERK2 cascade
IDA biological_process
GO:0070487 monocyte aggregation
IMP biological_process
GO:1900625 positive regulation of mo
nocyte aggregation
IMP biological_process
GO:1902166 negative regulation of in
trinsic apoptotic signali
ng pathway in response to
DNA damage by p53 class
mediator
IDA biological_process
GO:0004896 cytokine receptor activit
y
IDA molecular_function
GO:0004415 hyalurononglucosaminidase
activity
IDA 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:0005518 collagen binding
NAS molecular_function
GO:0005540 hyaluronic acid binding
IDA molecular_function
GO:0005540 hyaluronic acid binding
IDA molecular_function
GO:0005540 hyaluronic acid binding
NAS molecular_function
GO:0005737 cytoplasm
IDA cellular_component
GO:0005794 Golgi apparatus
IDA cellular_component
GO:0005886 plasma membrane
IDA cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005887 integral component of pla
sma membrane
NAS cellular_component
GO:0005925 focal adhesion
IDA cellular_component
GO:0007160 cell-matrix adhesion
NAS biological_process
GO:0009986 cell surface
IDA cellular_component
GO:0009986 cell surface
IDA cellular_component
GO:0016337 single organismal cell-ce
ll adhesion
NAS biological_process
GO:0022617 extracellular matrix disa
ssembly
TAS biological_process
GO:0030198 extracellular matrix orga
nization
TAS biological_process
GO:0030214 hyaluronan catabolic proc
ess
IDA biological_process
GO:0030214 hyaluronan catabolic proc
ess
TAS biological_process
GO:0033138 positive regulation of pe
ptidyl-serine phosphoryla
tion
IDA biological_process
GO:0034116 positive regulation of he
terotypic cell-cell adhes
ion
IMP biological_process
GO:0035692 macrophage migration inhi
bitory factor receptor co
mplex
IDA cellular_component
GO:0043066 negative regulation of ap
optotic process
IMP biological_process
GO:0043154 negative regulation of cy
steine-type endopeptidase
activity involved in apo
ptotic process
IMP biological_process
GO:0043518 negative regulation of DN
A damage response, signal
transduction by p53 clas
s mediator
IDA biological_process
GO:0044344 cellular response to fibr
oblast growth factor stim
ulus
IDA biological_process
GO:0050731 positive regulation of pe
ptidyl-tyrosine phosphory
lation
IDA biological_process
GO:0050900 leukocyte migration
TAS biological_process
GO:0051216 cartilage development
IEP biological_process
GO:0060333 interferon-gamma-mediated
signaling pathway
TAS biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070374 positive regulation of ER
K1 and ERK2 cascade
IDA biological_process
GO:0070487 monocyte aggregation
IMP biological_process
GO:1900625 positive regulation of mo
nocyte aggregation
IMP biological_process
GO:1902166 negative regulation of in
trinsic apoptotic signali
ng pathway in response to
DNA damage by p53 class
mediator
IDA biological_process
GO:0004896 cytokine receptor activit
y
IDA molecular_function

KEGG pathways

hsa05206  MicroRNAs in cancer
hsa05205  Proteoglycans in cancer
hsa05169  Epstein-Barr virus infection
hsa04640  Hematopoietic cell lineage
hsa04512  ECM-receptor interaction
hsa05131  Shigellosis
PTHR10225:SF6  Alzheimer disease-presenilin pathway
PTHR10225:SF6  Alzheimer disease-presenilin pathway

Diseases

Associated diseases References
Adenomyosis PMID: 7680356
Arthritis PMID: 11981324
Cleft lip PMID: 16415175
Ectopic endometrial implants PMID: 1400884
Endometriosis PMID: 23639674
Gastric cancer KEGG: H00018
Lupus erythematosus PMID: 12215908
Male hypogonadism PMID: 18508780
Malfunction of oocytes PMID: 22260850
Ovarian endometriosis PMID: 9647570
Ovarian endometriosis PMID: 14556838
Ovarian endometriosis PMID: 14556838
Ovarian hyperstimulation syndrome (OHSS) PMID: 17074323
Polycystic ovary syndrome (PCOS) PMID: 22007253
Primary amenorrhea PMID: 9626144
Ovarian endometriosis INFBASE14556838
Endometriosis INFBASE11293159
Unexplained infertility PMID: 22007253

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
23639674 Endometrio
sis

32 (13 endometr
iosis lesions,
11 isolated end
ometriotic-like
cells (IELC)-p
ositive pelvic
sentinel lymph
nodes (PSLN), 8
ELC-negative P
SLN))
EPCAM
CDH1 (E-cadherin)
CXCR4
CD44
Show abstract
25711649 Endometrio
sis

169 (39 PF and
serum samples f
rom normal heal
thy and 130 sam
ples from diffe
rent stages of
patients with e
ndometriosis (3
3 cases of stag
e I, 38 stage I
I, 30 stage III
and 29 stage I
V))

Show abstract
19200980 Endometrio
sis
CD44 splice variant

CD44
Show abstract
17919613 Endometrio
sis


CD44
Show abstract
11293159 Endometrio
sis

25 patients(16
proliferative,
9 secretory (N
= 9) stages)
CD44
Show abstract
11966474 Endometrio
sis

51 (6 endometri
um samples, 7 p
eritoneal endom
etriotic sample
s, 15 endometri
um by immunohis
tochemistry, 23
peritoneal end
ometriotic samp
les)
CD44
Show abstract
14556838 Endometrio
sis (ovari
an)


CD44
Show abstract