Pkdcc MGI Mouse Gene Detail - MGI:2147077 - protein kinase domain containing, cytoplasmic

Symbol

Pkdcc
Name

protein kinase domain containing, cytoplasmic
Synonyms

Adtk1, ESTM17, MAd1, Vlk

Feature Type

protein coding gene
IDs

MGI:2147077
NCBI Gene: 106522
Alliance

gene page
Transcription Start Sites

2 TSS

Sequence Map

Chr17:83522721-83532499 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 17, 52.25 cM
Mapping Data

2 experiments

SNPs within 2kb

300 from dbSNP Build 142
Strain Annotations

18
RFLP

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2147077	protein coding gene	Chr17:83522708-83532499 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0024071	protein coding gene	Chr17:86285043-86296625 (+)
A/J	MGP_AJ_G0024030	protein coding gene	Chr17:83562619-83572346 (+)
AKR/J	MGP_AKRJ_G0023999	protein coding gene	Chr17:84925269-84935024 (+)
BALB/cJ	MGP_BALBcJ_G0024031	protein coding gene	Chr17:83423836-83433695 (+)
C3H/HeJ	MGP_C3HHeJ_G0023796	protein coding gene	Chr17:85759946-85770340 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0024476	protein coding gene	Chr17:89379374-89390854 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0021915	protein coding gene	Chr17:78800953-78810649 (+)
CAST/EiJ	MGP_CASTEiJ_G0023275	protein coding gene	Chr17:86474482-86485375 (+)
CBA/J	MGP_CBAJ_G0023770	protein coding gene	Chr17:93048009-93060508 (+)
DBA/2J	MGP_DBA2J_G0023898	protein coding gene	Chr17:82035545-82045620 (+)
FVB/NJ	MGP_FVBNJ_G0023864	protein coding gene	Chr17:81547479-81558457 (+)
LP/J	MGP_LPJ_G0023982	protein coding gene	Chr17:87010406-87021667 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0023892	protein coding gene	Chr17:93193777-93204911 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0024521	protein coding gene	Chr17:85398517-85408859 (+)
PWK/PhJ	MGP_PWKPhJ_G0023020	protein coding gene	Chr17:81612906-81664395 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0022831	protein coding gene	Chr17:82197655-82209827 (+)
WSB/EiJ	MGP_WSBEiJ_G0023342	protein coding gene	Chr17:86253752-86264783 (+)

Human Ortholog

PKDCC, protein kinase domain containing, cytoplasmic

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

PKDCC, protein kinase domain containing, cytoplasmic
Synonyms

RLSDF, SGK493, Vlk
Links

HGNC:25123

NCBI Gene ID: 91461

neXtProt AC: NX_Q504Y2

UniProt: Q504Y2
Chr Location

2p21; chr2:42048021-42058517 (+) GRCh38

MGI Vertebrate Homology

Pkdcc stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: PKDCC
Gene Tree

Pkdcc

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Phenotype Summary

67 phenotypes from 5 alleles in 5 genetic backgrounds
9 phenotypes from multigenic genotypes
13 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

8
Endonuclease-mediated

3
Targeted

5
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

24 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous null mutants die on postnatal day P0, apparently due to ineffective respiration. They exhibit shortening of all the long bones of the fore- and hindlimbs, cleft palate, sternal dysraphia and deficient mineralization or other anomalies of multiple bones throughout the body.

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All GO Annotations

29
GO References

10

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

890
Tissues

103
cDNA Data

65
Literature Summary

15

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

GEO

Expression Atlas
Other Vertebrate Links

GEISHA PKDCCB

Xenbase pkdcc, pkdcc.2

ZFIN pkdcca, pkdccb

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All Sequences

49
RefSeq

6
UniProt

2
CCDS

CCDS28994.2

Ensembl

ENSMUSG00000024247 (Evidence)
NCBI Gene

106522

			Length	Strain/Species	Flank
genomic	ENSMUSG00000024247	Ensembl Gene Model \| MGI Sequence Detail	9779	C57BL/6J	± kb
transcript	ENSMUST00000170794	Ensembl \| MGI Sequence Detail	2446	Not Applicable
polypeptide	ENSMUSP00000129238	Ensembl \| MGI Sequence Detail	492	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000014795 extracellular tyrosine-protein kinase PKDCC

(term hierarchy)
EC

2.7.10.2
InterPro Domains

IPR042983 Extracellular tyrosine-protein kinase PKDCC

IPR022049 FAM69, protein-kinase domain

IPR000719 Protein kinase domain

IPR011009 Protein kinase-like domain superfamily
GlyGen

Q5RJI4 5 sites

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All nucleic 74

cDNA 65

Primer pair 7

Other 2

Microarray probesets 4

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MGD-MRK-28126, MGI:104832, MGI:2146795

Summaries

All 51

Developmental Gene Expression 15

Gene Ontology 10

Phenotypes 13
Earliest

J:28401 Bettenhausen B, et al., Efficient isolation of novel mouse genes differentially expressed in early postimplantation embryos. Genomics. 1995 Aug 10;28(3):436-41
Latest

J:346628 Mohammed J, et al., A common cis-regulatory variant impacts normal-range and disease-associated human facial shape through regulation of PKDCC during chondrogenesis. Elife. 2024 Mar 14;13

TSS for Pkdcc:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr145981	Chr17:83522191-83522203 (+)	-524 bp
Tssr145982	Chr17:83522700-83522718 (+)	-12 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/12/2024 MGI 6.24