PKDCC

Chr 2p21

protein kinase domain containing, cytoplasmic

Aliases:: SgK493, Vlk
MANE:: ENST00000294964.6

OMIM: 614150 ↗NCBI: 91461 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

PKDCC · Q504Y2

v62025-08-01

Predicted Aligned Error matrix for PKDCC — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

81.8/ 100

Confident

493 residues

Confidence breakdown

Very high(≥ 90)70%
Confident(70–90)7%
Low(50–70)6%
Very low(< 50)17%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

rhizomelic limb shortening with dysmorphic features
0.73
hair color
0.45
hereditary disease
0.45
Abnormality of the skeletal system
0.43
Hallux valgus
0.31
cleft lip
0.29
amyotrophic lateral sclerosis
0.28
cleft palate
0.26
hypospadias
0.26
mathematical ability
0.23

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Extracellular tyrosine-protein kinase PKDCC

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, MMP19 and ERP29 (PubMed:25171405). Probably plays a role in platelets: rapidly and quantitatively secreted from platelets in response to stimulation of platelet degranulation (PubMed:25171405). May also have serine/threonine protein kinase activity. Required for longitudinal bone growth through regulation of chondrocyte differentiation. May be indirectly involved in protein transport from the Golgi apparatus to the plasma membrane (By similarity)