Gene Gene information from NCBI Gene database.
Entrez ID 23022
Gene name Palladin, cytoskeletal associated protein
Gene symbol PALLD
Synonyms (NCBI Gene)
CGI-151CGI151MYNPNCA1SIH002
Chromosome 4
Chromosome location 4q32.3
Summary 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.
5
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.
272
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
41
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608092 17068 ENSG00000129116
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
36
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
Acute myeloid leukemia Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Carcinoma of pancreas Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Uncertain significance; Benign; Likely benign ClinVar
★★☆☆☆
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
Adenocarcinoma Adenocarcinoma LHGDN 17228136
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 17404500, 26333695
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of pancreas Pancreatic adenocarcinoma HPO_DG
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 22368299
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 28351381
★☆☆☆☆
Found in Text Mining only
Anorexia Anorexia HPO_DG
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 19205907, 21054356
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 19205907, 21054356
★☆☆☆☆
Found in Text Mining only
beta Thalassemia beta Thalassemia LHGDN 15310273
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 20471940, 21519185
★☆☆☆☆
Found in Text Mining only