Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23022
Gene name Gene Name - the full gene name approved by the HGNC.
Palladin, cytoskeletal associated protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PALLD
Synonyms (NCBI Gene) Gene synonyms aliases
CGI-151, CGI151, MYN, PNCA1, SIH002
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q32.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a cytoskeletal protein that is required for organizing the actin cytoskeleton. The protein is a component of actin-containing microfilaments, and it is involved in the control of cell shape, adhesion, and contraction. Polymorphisms in th
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs121908291 C>T Risk-factor, uncertain-significance, benign Missense variant, coding sequence variant, genic downstream transcript variant, intron variant
rs139375029 T>C,G Conflicting-interpretations-of-pathogenicity, uncertain-significance Missense variant, coding sequence variant, genic downstream transcript variant, 5 prime UTR variant
rs140454899 A>T Likely-benign, conflicting-interpretations-of-pathogenicity Missense variant, genic upstream transcript variant, coding sequence variant
rs587780760 T>G Conflicting-interpretations-of-pathogenicity Genic downstream transcript variant, missense variant, coding sequence variant, intron variant
rs753092219 C>T Conflicting-interpretations-of-pathogenicity Genic downstream transcript variant, synonymous variant, intron variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT020550 hsa-miR-155-5p Proteomics 18668040
MIRT022312 hsa-miR-124-3p Microarray 18668037
MIRT030662 hsa-miR-21-5p Microarray 18591254
MIRT031101 hsa-miR-19b-3p Sequencing 20371350
MIRT048248 hsa-miR-196a-5p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001725 Component Stress fiber IDA 11598191
GO:0001725 Component Stress fiber IEA
GO:0001726 Component Ruffle IEA
GO:0002102 Component Podosome IEA
GO:0003334 Process Keratinocyte development IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
608092 17068 ENSG00000129116
Protein
UniProt ID Q8WX93
Protein name Palladin (SIH002) (Sarcoma antigen NY-SAR-77)
Protein function Cytoskeletal protein required for organization of normal actin cytoskeleton. Roles in establishing cell morphology, motility, cell adhesion and cell-extracellular matrix interactions in a variety of cell types. May function as a scaffolding mole
PDB 2DM2 , 2DM3
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07679 I-set 271 361 Immunoglobulin I-set domain Domain
PF07679 I-set 441 538 Immunoglobulin I-set domain Domain
PF07679 I-set 1001 1092 Immunoglobulin I-set domain Domain
PF07679 I-set 1135 1225 Immunoglobulin I-set domain Domain
PF07679 I-set 1234 1325 Immunoglobulin I-set domain Domain
Tissue specificity TISSUE SPECIFICITY: Detected in both muscle and non-muscle tissues. High expression in prostate, ovary, colon, and kidney. Not detected in spleen, skeletal muscle, lung and peripheral blood lymphocytes (at protein level). Protein is overexpressed in FA6,
Sequence
MSGTSSHESFYDSLSDMQEESKNTDFFPGLSAFLSQEEINKSLDLARRAIADSETEDFDS
EKEISQIFSTSPASLCEHPSHKETKLGEHASRRPQDNRSTPVQPLAEKQTKSISSPVSKR
KPAMSPLLTRPSYIRSLRKAEKRGAKTPSTNVKPKTPHQRKGGPQSQLCDKAANLIEELT
SIFKAAKPRNRSPNGESSSPDSGYLSPKNQPSALLSASASQSPMEDQGEMEREVKSPGAR
HCYQDNQDLAVPHNRKSHPQPHSALHFPAAPRFIQKLRSQEVAEGSRVYLECRVTGNPTP
RVRWFCEGKELHNTPDIQIHCEGGDLHTLIIAEAFEDDTGRYTCLATNPSGSDTTSAEVF
I
EGASSTDSDSESLAFKSRAGAMPQAQKKTTSVSLTIGSSSPKTGVTTAVIQPLSVPVQQ
VHSPTSYLCRPDGTTTAYFPPVFTKELQNTAVAEGQVVVLECRVRGAPPLQVQWFRQGSE
IQDSPDFRILQKKPRSTAEPEEICTLVIAETFPEDAGIFTCSARNDYGSATSTAQLVV
TS
ANTENCSYESMGESNNDHFQHFPPPPPILETSSLELASKKPSEIQQVNNPELGLSRAALQ
MQFNAAERETNGVHPSRGVNGLINGKANSNKSLPTPAVLLSPTKEPPPLLAKPKLDPLKL
QQLQNQIRLEQEAGARQPPPAPRSAPPSPPFPPPPAFPELAACTPPASPEPMSALASRSA
PAMQSSGSFNYARPKQFIAAQNLGPASGHGTPASSPSSSSLPSPMSPTPRQFGRAPVPPF
AQPFGAEPEAPWGSSSPSPPPPPPPVFSPTAAFPVPDVFPLPPPPPPLPSPGQASHCSSP
ATRFGHSQTPAAFLSALLPSQPPPAAVNALGLPKGVTPAGFPKKASRTARIASDEEIQGT
KDAVIQDLERKLRFKEDLLNNGQPRLTYEERMARRLLGADSATVFNIQEPEEETANQEYK
VSSCEQRLISEIEYRLERSPVDESGDEVQYGDVPVENGMAPFFEMKLKHYKIFEGMPVTF
TCRVAGNPKPKIYWFKDGKQISPKSDHYTIQRDLDGTCSLHTTASTLDDDGNYTIMAANP
QGRISCTGRLMV
QAVNQRGRSPRSPSGHPHVRRPRSRSRDSGDENEPIQERFFRPHFLQA
PGDLTVQEGKLCRMDCKVSGLPTPDLSWQLDGKPVRPDSAHKMLVRENGVHSLIIEPVTS
RDAGIYTCIATNRAGQNSFSLELVV
AAKEAHKPPVFIEKLQNTGVADGYPVRLECRVLGV
PPPQIFWKKENESLTHSTDRVSMHQDNHGYICLLIQGATKEDAGWYTVSAKNEAGIVSCT
ARLDV
YTQWHQQSQSTKPKKVRPSASRYAALSDQGLDIKAAFQPEANPSHLTLNTALVES
EDL
Sequence length 1383
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Cleft Lip With Or Without Cleft Palate Cleft lip with or without cleft palate N/A N/A GWAS
Colorectal Cancer Colorectal cancer N/A N/A GWAS
Coronary artery disease Coronary artery disease N/A N/A GWAS
Glioblastoma Glioblastoma N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 20471940
Breast Neoplasms Inhibit 21050850
Carcinogenesis Associate 21738681
Carcinoma Hepatocellular Associate 37960718
Carcinoma Pancreatic Ductal Associate 17404500, 27023252, 33764904
Carcinoma Renal Cell Associate 21738681
Cardiomyopathies Associate 32631246
Cardiomyopathy Restrictive Associate 36174041
Colorectal Neoplasms Associate 32859214
Coronary Disease Associate 18073581