Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 1749
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol DLX5   Gene   UCSC   Ensembl
Aliases SHFM1D
Gene name distal-less homeobox 5
Alternate names homeobox protein DLX-5, distal-less homeo box 5, split hand/foot malformation type 1 with sensorineural hearing loss,
Gene location 7q21.3 (97024830: 97020389)     Exons: 5     NC_000007.14
Gene summary(Entrez) This gene encodes a member of a homeobox transcription factor gene family similiar to the Drosophila distal-less gene. The encoded protein may play a role in bone development and fracture healing. Mutation in this gene, which is located in a tail-to-tail configuration with another member of the family on the long arm of chromosome 7, may be associated with split-hand/split-foot malformation. [provided by RefSeq, Jul 2008]
OMIM 600028

Protein Summary

Protein general information P56178  

Name: Homeobox protein DLX 5

Length: 289  Mass: 31,540

Sequence MTGVFDRRVPSIRSGDFQAPFQTSAAMHHPSQESPTLPESSATDSDYYSPTGGAPHGYCSPTSASYGKALNPYQY
QYHGVNGSAGSYPAKAYADYSYASSYHQYGGAYNRVPSATNQPEKEVTEPEVRMVNGKPKKVRKPRTIYSSFQLA
ALQRRFQKTQYLALPERAELAASLGLTQTQVKIWFQNKRSKIKKIMKNGEMPPEHSPSSSDPMACNSPQSPAVWE
PQGSSRSLSHHPHAHPPTSNQSPASSYLENSASWYTSAASSINSHLPPPGSLQHPLALASGTLY
Structural information
Interpro:  IPR022135 IPR009057 IPR017970 IPR001356 IPR020479 IPR000047
Prosite:   PS00027 PS50071

Pfam:  
PF12413 PF00046

PDB:  
2DJN 4RDU
PDBsum:   2DJN 4RDU
MINT:   4720915
STRING:   ENSP00000222598;
Other Databases GeneCards:  DLX5;  Malacards:  DLX5

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0000790 nuclear chromatin
ISS cellular_component
GO:0000978 RNA polymerase II core pr
omoter proximal region se
quence-specific DNA bindi
ng
ISS molecular_function
GO:0001077 transcriptional activator
activity, RNA polymerase
II core promoter proxima
l region sequence-specifi
c binding
ISS molecular_function
GO:0001501 skeletal system developme
nt
TAS biological_process
GO:0001649 osteoblast differentiatio
n
ISS biological_process
GO:0001958 endochondral ossification
ISS biological_process
GO:0005737 cytoplasm
IEA cellular_component
GO:0006366 transcription from RNA po
lymerase II promoter
IEA biological_process
GO:0007399 nervous system developmen
t
TAS biological_process
GO:0007411 axon guidance
IEA biological_process
GO:0008283 cell proliferation
IDA biological_process
GO:0030326 embryonic limb morphogene
sis
IEA biological_process
GO:0030509 BMP signaling pathway
ISS biological_process
GO:0030855 epithelial cell different
iation
IEA biological_process
GO:0042472 inner ear morphogenesis
IEA biological_process
GO:0044212 transcription regulatory
region DNA binding
IDA molecular_function
GO:0045669 positive regulation of os
teoblast differentiation
IEA biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
IDA biological_process
GO:0048646 anatomical structure form
ation involved in morphog
enesis
IEA biological_process
GO:0050679 positive regulation of ep
ithelial cell proliferati
on
IEA biological_process
GO:0060021 palate development
IEA biological_process
GO:0060166 olfactory pit development
IEA biological_process
GO:0060325 face morphogenesis
IEA biological_process
GO:0071773 cellular response to BMP
stimulus
ISS biological_process
GO:0071837 HMG box domain binding
IEA molecular_function
GO:0090263 positive regulation of ca
nonical Wnt signaling pat
hway
IEA biological_process
GO:1901522 positive regulation of tr
anscription from RNA poly
merase II promoter involv
ed in cellular response t
o chemical stimulus
ISS biological_process
GO:0000790 nuclear chromatin
IEA cellular_component
GO:0000790 nuclear chromatin
ISS cellular_component
GO:0000978 RNA polymerase II core pr
omoter proximal region se
quence-specific DNA bindi
ng
IEA molecular_function
GO:0000978 RNA polymerase II core pr
omoter proximal region se
quence-specific DNA bindi
ng
ISS molecular_function
GO:0001077 transcriptional activator
activity, RNA polymerase
II core promoter proxima
l region sequence-specifi
c binding
IEA molecular_function
GO:0001077 transcriptional activator
activity, RNA polymerase
II core promoter proxima
l region sequence-specifi
c binding
ISS molecular_function
GO:0001501 skeletal system developme
nt
TAS biological_process
GO:0001503 ossification
IEA biological_process
GO:0001649 osteoblast differentiatio
n
IEA biological_process
GO:0001649 osteoblast differentiatio
n
ISS biological_process
GO:0001958 endochondral ossification
IEA biological_process
GO:0001958 endochondral ossification
ISS biological_process
GO:0003677 DNA binding
IEA molecular_function
GO:0003677 DNA binding
IEA molecular_function
GO:0003677 DNA binding
IEA molecular_function
GO:0005634 nucleus
IEA cellular_component
GO:0005634 nucleus
IEA cellular_component
GO:0005634 nucleus
IEA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0006351 transcription, DNA-templa
ted
IEA biological_process
GO:0006355 regulation of transcripti
on, DNA-templated
IEA biological_process
GO:0006355 regulation of transcripti
on, DNA-templated
IEA biological_process
GO:0006355 regulation of transcripti
on, DNA-templated
IEA biological_process
GO:0006366 transcription from RNA po
lymerase II promoter
IEA biological_process
GO:0007275 multicellular organism de
velopment
IEA biological_process
GO:0007399 nervous system developmen
t
TAS biological_process
GO:0007409 axonogenesis
IEA biological_process
GO:0007411 axon guidance
IEA biological_process
GO:0008283 cell proliferation
IDA biological_process
GO:0030326 embryonic limb morphogene
sis
IEA biological_process
GO:0030509 BMP signaling pathway
IEA biological_process
GO:0030509 BMP signaling pathway
ISS biological_process
GO:0030855 epithelial cell different
iation
IEA biological_process
GO:0042472 inner ear morphogenesis
IEA biological_process
GO:0043565 sequence-specific DNA bin
ding
IEA molecular_function
GO:0043583 ear development
IEA biological_process
GO:0044212 transcription regulatory
region DNA binding
IEA molecular_function
GO:0044212 transcription regulatory
region DNA binding
IDA molecular_function
GO:0045669 positive regulation of os
teoblast differentiation
IEA biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
IEA biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
IDA biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
IEA biological_process
GO:0048646 anatomical structure form
ation involved in morphog
enesis
IEA biological_process
GO:0050679 positive regulation of ep
ithelial cell proliferati
on
IEA biological_process
GO:0060021 palate development
IEA biological_process
GO:0060166 olfactory pit development
IEA biological_process
GO:0060322 head development
IEA biological_process
GO:0060325 face morphogenesis
IEA biological_process
GO:0060349 bone morphogenesis
IEA biological_process
GO:0071773 cellular response to BMP
stimulus
IEA biological_process
GO:0071773 cellular response to BMP
stimulus
ISS biological_process
GO:0071837 HMG box domain binding
IEA molecular_function
GO:0090263 positive regulation of ca
nonical Wnt signaling pat
hway
IEA biological_process
GO:1901522 positive regulation of tr
anscription from RNA poly
merase II promoter involv
ed in cellular response t
o chemical stimulus
IEA biological_process
GO:1901522 positive regulation of tr
anscription from RNA poly
merase II promoter involv
ed in cellular response t
o chemical stimulus
ISS biological_process
GO:0000790 nuclear chromatin
ISS cellular_component
GO:0000978 RNA polymerase II core pr
omoter proximal region se
quence-specific DNA bindi
ng
ISS molecular_function
GO:0001077 transcriptional activator
activity, RNA polymerase
II core promoter proxima
l region sequence-specifi
c binding
ISS molecular_function
GO:0001501 skeletal system developme
nt
TAS biological_process
GO:0001649 osteoblast differentiatio
n
ISS biological_process
GO:0001958 endochondral ossification
ISS biological_process
GO:0007399 nervous system developmen
t
TAS biological_process
GO:0008283 cell proliferation
IDA biological_process
GO:0030509 BMP signaling pathway
ISS biological_process
GO:0044212 transcription regulatory
region DNA binding
IDA molecular_function
GO:0045893 positive regulation of tr
anscription, DNA-template
d
IDA biological_process
GO:0071773 cellular response to BMP
stimulus
ISS biological_process
GO:1901522 positive regulation of tr
anscription from RNA poly
merase II promoter involv
ed in cellular response t
o chemical stimulus
ISS biological_process

KEGG pathways

hsa04550  Signaling pathways regulating pluripotency of stem cells

Diseases

Associated diseases References
Endometriosis PMID: 16249290
Endometriosis INFBASE16249290
Split-hand/foot malformation OMIM: 600028

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
16249290 Endometrio
sis

30 (15 patients
undergoing lap
aroscopy or hys
terectomy for e
ndometriosis, 1
5 controls)
IGFBP5
PIM2
RPL41
PSAP
FBLN1
SIPL
DLX5
HSD11B2
SET
and RHOE
Show abstract