Format

Send to:

Choose Destination

PKDCC protein kinase domain containing, cytoplasmic [ Homo sapiens (human) ]

Gene ID: 91461, updated on 5-Jul-2020

Summary

Official Symbol
PKDCCprovided by HGNC
Official Full Name
protein kinase domain containing, cytoplasmicprovided by HGNC
Primary source
HGNC:HGNC:25123
See related
Ensembl:ENSG00000162878 MIM:614150
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
Vlk; RLSDF; SGK493
Expression
Broad expression in ovary (RPKM 28.2), endometrium (RPKM 26.6) and 22 other tissues See more
Orthologs

Genomic context

See PKDCC in Genome Data Viewer
Location:
2p21
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (42048021..42058517)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (42275161..42285668)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene VISTA enhancer hs2553 Neighboring gene uncharacterized LOC105374517 Neighboring gene uncharacterized LOC105374531 Neighboring gene EML4 antisense RNA 1 Neighboring gene EMAP like 4

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES
MedGen: CN263374 OMIM: 618821 GeneReviews: Not available
not available

NHGRI GWAS Catalog

Description
A pooling-based genome-wide analysis identifies new potential candidate genes for atopy in the European Community Respiratory Health Survey (ECRHS).
NHGRI GWA Catalog
Genome-wide association analyses identify variants in developmental genes associated with hypospadias.
NHGRI GWA Catalog
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ18197, MGC125960

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
non-membrane spanning protein tyrosine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein kinase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
bone mineralization IEA
Inferred from Electronic Annotation
more info
 
cell differentiation IEA
Inferred from Electronic Annotation
more info
 
embryonic digestive tract development ISS
Inferred from Sequence or Structural Similarity
more info
 
limb morphogenesis IEA
Inferred from Electronic Annotation
more info
 
lung alveolus development ISS
Inferred from Sequence or Structural Similarity
more info
 
multicellular organism growth IEA
Inferred from Electronic Annotation
more info
 
negative regulation of Golgi to plasma membrane protein transport ISS
Inferred from Sequence or Structural Similarity
more info
 
peptidyl-tyrosine phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of bone mineralization ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of chondrocyte differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
protein transport IEA
Inferred from Electronic Annotation
more info
 
roof of mouth development ISS
Inferred from Sequence or Structural Similarity
more info
 
skeletal system development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi apparatus ISS
Inferred from Sequence or Structural Similarity
more info
 
extracellular region IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
extracellular tyrosine-protein kinase PKDCC
Names
protein kinase domain containing, cytoplasmic homolog
protein kinase domain-containing protein, cytoplasmic
protein kinase-like protein SgK493
sugen kinase 493
vertebrate lonesome kinase
NP_612379.2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_138370.3NP_612379.2  extracellular tyrosine-protein kinase PKDCC precursor

    See identical proteins and their annotated locations for NP_612379.2

    Status: VALIDATED

    Source sequence(s)
    AC013480, BC062988, BC110513, BM738316, CF131963, DB231841, DB457034
    Consensus CDS
    CCDS33186.2
    UniProtKB/Swiss-Prot
    Q504Y2
    Related
    ENSP00000294964.5, ENST00000294964.6
    Conserved Domains (1) summary
    cl21453
    Location:200370
    PKc_like; Protein Kinases, catalytic domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    42048021..42058517
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center