Gene Gene information from NCBI Gene database.
Entrez ID 5411
Gene name Pinin, desmosome associated protein
Gene symbol PNN
Synonyms (NCBI Gene)
DRSDRSPSDK3memA
Chromosome 14
Chromosome location 14q21.1
miRNA miRNA information provided by mirtarbase database.
178
miRTarBase ID miRNA Experiments Reference
MIRT000894 hsa-miR-15a-5p Microarray 18362358
MIRT000893 hsa-miR-16-5p Microarray 18362358
MIRT016172 hsa-miR-590-3p Sequencing 20371350
MIRT023423 hsa-miR-30b-5p Sequencing 20371350
MIRT023477 hsa-miR-23b-3p Sequencing 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
GO ID Ontology Definition Evidence Reference
GO:0000398 Process MRNA splicing, via spliceosome IC 11991638
GO:0003677 Function DNA binding IEA
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0005198 Function Structural molecule activity NAS 8922384
GO:0005515 Function Protein binding IPI 17332742, 18794151, 20467437, 22113938, 22388736, 28514442, 30021884, 32296183, 32707033, 33961781, 35271311
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603154 9162 ENSG00000100941
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H307
Protein name Pinin (140 kDa nuclear and cell adhesion-related phosphoprotein) (Desmosome-associated protein) (Domain-rich serine protein) (DRS protein) (DRSP) (Melanoma metastasis clone A protein) (Nuclear protein SDK3) (SR-like protein)
Protein function Transcriptional activator binding to the E-box 1 core sequence of the E-cadherin promoter gene; the core-binding sequence is 5'CAGGTG-3'. Capable of reversing CTBP1-mediated transcription repression. Auxiliary component of the splicing-dependent
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04697 Pinin_SDK_N 1 132 pinin/SDK conserved region Family
PF04696 Pinin_SDK_memA 136 261 pinin/SDK/memA/ protein conserved region Family
Tissue specificity TISSUE SPECIFICITY: Expressed in placenta, lung, liver, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon, heart, epidermis, esophagus, brain and smooth and skeletal muscle. Expressed strongly in melanoma metastasis lesions
Sequence
MAVAVRTLQEQLEKAKESLKNVDENIRKLTGRDPNDVRPIQARLLALSGPGGGRGRGSLL
LRRGFSDSGGGPPAKQRDLEGAVSRLGGERRTRRESRQESDPEDDDVKKPALQSSVVATS
KERTRRDLIQDQ
NMDEKGKQRNRRIFGLLMGTLQKFKQESTVATERQKRRQEIEQKLEVQ
AEEERKQVENERRELFEERRAKQTELRLLEQKVELAQLQEEWNEHNAKIIKYIRTKTKPH
LFYIPGRMCPATQKLIEESQR
KMNALFEGRRIEFAEQINKMEARPRRQSMKEKEHQVVRN
EEQKAEQEEGKVAQREEELEETGNQHNDVEIEEAGEEEEKEIAIVHSDAEKEQEEEEQKQ
EMEVKMEEETEVRESEKQQDSQPEEVMDVLEMVENVKHVIADQEVMETNRVESVEPSENE
ASKELEPEMEFEIEPDKECKTLSPGKENVSALDMEKESEEKEEKESEPQPEPVAQPQPQS
QPQLQLQSQSQPVLQSQPPSQPEDLSLAVLQPTPQVTQEQGHLLPERKDFPVESVKLTEV
PVEPVLTVHPESKSKTKTRSRSRGRARNKTSKSRSRSSSSSSSSSSSTSSSSGSSSSSGS
SSSRSSSSSSSSTSGSSSRDSSSSTSSSSESRSRSRGRGHNRDRKHRRSVDRKRRDTSGL
ERSHKSSKGGSSRDTKGSKDKNSRSDRKRSISESSRSGKRSSRSERDRKSDRKDKRR
Sequence length 717
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Nucleocytoplasmic transport
mRNA surveillance pathway
 
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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
INSOMNIA 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
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 3031662
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder BEFREE 24331455
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety Disorder BEFREE 24331455
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 37814309 Associate
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 19797135
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 28546501
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 18086895 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 27175589 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 33811436 Associate
★☆☆☆☆
Found in Text Mining only
Cognition Disorders Cognition disorder Pubtator 33070392 Associate
★☆☆☆☆
Found in Text Mining only