Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
91461
Gene name Gene Name - the full gene name approved by the HGNC.
Protein kinase domain containing, cytoplasmic
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PKDCC
Synonyms (NCBI Gene) Gene synonyms aliases
RLSDF, SGK493, Vlk
Disease Acronyms (UniProt) Disease acronyms from UniProt database
RLSDF
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p21
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs761532715 C>A Pathogenic, likely-pathogenic Coding sequence variant, stop gained
rs763243200 G>A,T Pathogenic, likely-pathogenic Splice donor variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT050335 hsa-miR-25-3p CLASH 23622248
MIRT049360 hsa-miR-92a-3p CLASH 23622248
MIRT1237321 hsa-miR-103a CLIP-seq
MIRT1237322 hsa-miR-107 CLIP-seq
MIRT1237323 hsa-miR-1256 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001501 Process Skeletal system development IMP 30478137
GO:0004672 Function Protein kinase activity ISS
GO:0004715 Function Non-membrane spanning protein tyrosine kinase activity IDA 25171405
GO:0005524 Function ATP binding IEA
GO:0005576 Component Extracellular region IDA 25171405
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
614150 25123 ENSG00000162878
Protein
UniProt ID Q504Y2
Protein name Extracellular tyrosine-protein kinase PKDCC (EC 2.7.10.2) (Protein kinase domain-containing protein, cytoplasmic) (Protein kinase-like protein SgK493) (Sugen kinase 493) (Vertebrate lonesome kinase)
Protein function Secreted tyrosine-protein kinase that mediates phosphorylation of extracellular proteins and endogenous proteins in the secretory pathway, which is essential for patterning at organogenesis stages. Mediates phosphorylation of MMP1, MMP13, MMP14,
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12260 PIP49_C 191 372 Protein-kinase domain of FAM69 Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in platelets. {ECO:0000269|PubMed:25171405}.
Sequence
MRRRRAAVAAGFCASFLLGSVLNVLFAPGSEPPRPGQSPEPSPAPGPGRRGGRGELARQI
RARYEEVQRYSRGGPGPGAGRPERRRLMDLAPGGPGLPRPRPPWARPLSDGAPGWPPAPG
PGSPGPGPRLGCAALRNVSGAQYMGSGYTKAVYRVRLPGGAAVALKAVDFSGHDLGSCVR
EFGVRRGCYRLAAHKLLKEMVLLERLRHPNVLQLYGYCYQDSEDIPDTLTTITELGAPVE
MIQLLQTSWEDRFRICLSLGRLLHHLAHSPLGSVTLLDFRPRQFVLVDGELKVTDLDDAR
VEETPCAGSTDCILEFPARNFTLPCSAQGWCEGMNEKRNLYNAYRFFFTYLLPHSAPPSL
RPLLDSIVNATG
ELAWGVDETLAQLEKVLHLYRSGQYLQNSTASSSTEYQCIPDSTIPQE
DYRCWPSYHHGSCLLSVFNLAEAVDVCESHAQCRAFVVTNQTTWTGRQLVFFKTGWSQVV
PDPNKTTYVKASG
Sequence length 493
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Multiple congenital anomalies Multiple congenital anomalies rs1057517732 25171405, 19465597, 23792766, 19097194, 23559552
Unknown
Disease term Disease name Evidence References Source
Dysmorphic Features rhizomelic limb shortening with dysmorphic features GenCC
Hypospadias Hypospadias GWAS
Insomnia Insomnia GWAS
Associations from Text Mining
Disease Name Relationship Type References
Asthma Associate 32841424
Glaucoma Associate 27591737
Ige Responsiveness Atopic Associate 19961619