Gene Gene information from NCBI Gene database.
Entrez ID 89932
Gene name Papilin, proteoglycan like sulfated glycoprotein
Gene symbol PAPLN
Synonyms (NCBI Gene)
PPN
Chromosome 14
Chromosome location 14q24.2
miRNA miRNA information provided by mirtarbase database.
347
miRTarBase ID miRNA Experiments Reference
MIRT655391 hsa-miR-6771-3p HITS-CLIP 23824327
MIRT655390 hsa-miR-6849-3p HITS-CLIP 23824327
MIRT655389 hsa-miR-3190-5p HITS-CLIP 23824327
MIRT655388 hsa-miR-4786-5p HITS-CLIP 23824327
MIRT655387 hsa-miR-3926 HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
5
GO ID Ontology Definition Evidence Reference
GO:0004867 Function Serine-type endopeptidase inhibitor activity IEA
GO:0005576 Component Extracellular region IEA
GO:0005604 Component Basement membrane IEA
GO:0030198 Process Extracellular matrix organization IEA
GO:0030414 Function Peptidase inhibitor activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
617785 19262 ENSG00000100767
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O95428
Protein name Papilin
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00090 TSP_1 30 79 Thrombospondin type 1 domain Domain
PF05986 ADAM_spacer1 183 298 ADAM-TS Spacer 1 Family
PF19030 TSP1_ADAMTS 308 360 Domain
PF19030 TSP1_ADAMTS 366 424 Domain
PF19030 TSP1_ADAMTS 427 480 Domain
PF19030 TSP1_ADAMTS 488 538 Domain
PF00014 Kunitz_BPTI 753 805 Kunitz/Bovine pancreatic trypsin inhibitor domain Domain
PF16626 Papilin_u7 814 905 Disordered
PF07679 I-set 913 994 Immunoglobulin I-set domain Domain
PF07679 I-set 1046 1129 Immunoglobulin I-set domain Domain
PF07679 I-set 1133 1219 Immunoglobulin I-set domain Domain
PF08686 PLAC 1235 1267 PLAC (protease and lacunin) domain Domain
Sequence
MRLLLLVPLLLAPAPGSSAPKVRRQSDTWGPWSQWSPCSRTCGGGVSFRERPCYSQRRDG
GSSCVGPARSHRSCRTESC
PDGARDFRAEQCAEFDGAEFQGRRYRWLPYYSAPNKCELNC
IPKGENFYYKHREAVVDGTPCEPGKRDVCVDGSCRVVGCDHELDSSKQEDKCLRCGGDGT
TCYPVAGTFDANDLSRGYNQILIVPMGATSILIDEAAASRNFLAVKNVRGEYYLNGHWTI
EAARALPAASTILHYERGAEGDLAPERLHARGPTSEPLVIELISQEPNPGVHYEYHLP
LR
RPSPGFSWSHGSWSDCSAECGGGHQSRLVFCTIDHEAYPDHMCQRQPRPADRRSCNLHPC
PETKRWKAGPWAPCSASCGGGSQSRSVYCISSDGAGIQEAVEEAECAGLPGKPPAIQACN
LQRC
AAWSPEPWGECSVSCGVGVRKRSVTCRGERGSLLHTAACSLEDRPPLTEPCVHEDC
PLLSDQAWHVGTWGLCSKSCSSGTRRRQVICAIGPPSHCGSLQHSKPVDVEPCNTQPCHL
PQEVPSMQDVHTPASNPWMPLGPQESPASDSRGQWWAAQEHPSARGDHRGERGDPRGDQG
THLSALGPAPSLQQPPYQQPLRSGSGPHDCRHSPHGCCPDGHTASLGPQWQGCPGAPCQQ
SRYGCCPDRVSVAEGPHHAGCTKSYGGDSTGGMPRSRAVASTVHNTHQPQAQQNEPSECR
GSQFGCCYDNVATAAGPLGEGCVGQPSHAYPVRCLLPSAHGSCADWAARWYFVASVGQCN
RFWYGGCHGNANNFASEQECMSSCQ
GSLHGPRRPQPGASGRSTHTDGGGSSPAGEQEPSQ
HRTGAAVQRKPWPSGGLWRQDQQPGPGEAPHTQAFGEWPWGQELGSRAPGLGGDAGSPAP
PFHSS
SYRISLAGVEPSLVQAALGQLVRLSCSDDTAPESQAAWQKDGQPISSDRHRLQFD
GSLIIHPLQAEDAGTYSCGSTRPGRDSQKIQLRI
IGGDMAVLSEAELSRFPQPRDPAQDF
GQAGAAGPLGAIPSSHPQPANRLRLDQNQPRVVDASPGQRIRMTCRAEGFPPPAIEWQRD
GQPVSSPRHQLQPDGSLVISRVAVEDGGFYTCVAFNGQDRDQRWVQLRV
LGELTISGLPP
TVTVPEGDTARLLCVVAGESVNIRWSRNGLPVQADGHRVHQSPDGTLLIYNLRARDEGSY
TCSAYQGSQAVSRSTEVKV
VSPAPTAQPRDPGRDCVDQPELANCDLILQAQLCGNEYYSS
FCCASCS
RFQPHAQPIWQ
Sequence length 1278
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Clear cell carcinoma of kidney Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SAPHO SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
VASCULAR DEMENTIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Carcinoma of lung Lung carcinoma BEFREE 18193088
★☆☆☆☆
Found in Text Mining only
Hemangioma Hemangioma BEFREE 28960167
★☆☆☆☆
Found in Text Mining only
Infantile hemangioma Hemangioma BEFREE 28960167
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of lung Lung Cancer BEFREE 18193088
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 30925992, 31709622
★☆☆☆☆
Found in Text Mining only
Strawberry nevus of skin Strawberry Nevus Of Skin BEFREE 28960167
★☆☆☆☆
Found in Text Mining only
Varicosity Vulval varices BEFREE 29476797
★☆☆☆☆
Found in Text Mining only