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PALLD (palladin, cytoskeletal associated protein)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23022
Gene nameGene Name - the full gene name approved by the HGNC.
Palladin, cytoskeletal associated protein
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
PALLD
SynonymsGene synonyms aliases
CGI-151, CGI151, MYN, PNCA1, SIH002
ChromosomeChromosome number
4
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q32.3
SummarySummary 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
SNPsSNP 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
miRNAmiRNA 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:0001726 Component Ruffle IEA
GO:0002102 Component Podosome IEA
GO:0003334 Process Keratinocyte development IEA
GO:0003382 Process Epithelial cell morphogenesis IEA
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
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
Causal
Disease name Disease term dbSNP ID References
Breast carcinoma Breast Carcinoma rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451, rs397507859, rs80359709, rs80359742, rs80359205, rs80357627, rs80357004, rs80357571, rs80357767, rs80357653, rs80358086, rs80357608, rs28897696, rs41293465, rs146650273, rs63751017, rs63750617, rs63750726, rs63750199, rs63749848, rs398122618, rs398122653, rs397509211, rs80357791, rs121912666, rs587778541, rs121908698, rs536907995, rs587781302, rs140342925, rs587781506, rs587782652, rs587782849, rs587783057, rs10520699, rs11852999, rs139770721, rs374950566, rs786202800, rs863224451, rs377153250, rs747727055, rs876658804, rs780001540, rs760815829, rs878854926, rs775248597, rs886040658, rs886040192, rs786203523, rs886040319, rs397508006, rs587782011, rs1060502772, rs1555461727, rs1553333072, rs1114167702, rs1257401983, rs886040950, rs1060502759, rs774684620, rs142947311, rs1555580883, rs748513310, rs376170600, rs863224499, rs1593909229, rs748453607, rs1294578913, rs1574737047, rs1593909960, rs2081922847, rs2082559544, rs2053694038
Cholestasis Cholestasis, Extrahepatic rs121909103, rs751511532, rs376368459, rs762702807, rs1578490102, rs1578499691, rs1578504946, rs1317656688, rs199791850, rs1452792080, rs1578491039
Colonic neoplasms Malignant tumor of colon rs267607789, rs774277300, rs781222233, rs1060502734, rs1060503333, rs1339238483
Coronary artery disease Coronary Artery Disease rs137852988, rs121918313, rs121918529, rs121918531, rs137852340, rs405509, rs1555800701, rs1215189537 29212778
Unknown
Disease name Disease term dbSNP ID References
Anorexia Anorexia
Exocrine pancreatic insufficiency Exocrine pancreatic insufficiency
Liver neoplasms Liver neoplasms
Ovarian epithelial carcinoma Carcinoma, Ovarian Epithelial

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