Cerkl MGI Mouse Gene Detail - MGI:3037816

Cerkl Gene Detail

Symbol

Cerkl
Name

ceramide kinase-like
Synonyms

Rp26

Feature Type

protein coding gene
IDs

MGI:3037816
NCBI Gene: 228094
Alliance

gene page

Sequence Map

Chr2:79330543-79456785 bp, - strand
From VEGA annotation of GRCm38

Mouse Genome Browser
Download
Sequence

126243 bp ± kb flank
Genome Browsers

VEGA | Ensembl | UCSC | NCBI

Genetic Map

Chromosome 2, 47.43 cM
Mapping Data

1 experiment

Human Ortholog

CERKL, ceramide kinase like

Vertebrate Orthologs

9

Human Ortholog

CERKL, ceramide kinase like
Orthology source: HomoloGene, HGNC
Synonyms

RP26
Links

HGNC:21699

NCBI Gene ID: 375298

neXtProt AC: NX_Q49MI3

UniProt: Q49MI3
Chr Location

2q31.3; chr2:181536672-181657107 (-) GRCh38.p7

HomoloGene

Vertebrate Homology Class 52396
1 human;1 mouse;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
HCOP

human homology predictions: CERKL
Gene Tree

Cerkl

Diseases

1 with human CERKL associations

				Human Disease	Mouse Models
				retinitis pigmentosa 26 IDs retinitis pigmentosa 26 DOID:0110368 ICD10CM:H35.5 OMIM:608380

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

3 phenotypes from 2 alleles in 2 genetic backgrounds
9 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

6
Chemically induced (other)

1
Targeted

5
Genomic Mutations

3 involving Cerkl
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

15 strains or lines available

Mice homozygous for a hypomorphic allele exhibit retinal apoptosis and decreased amplitudes and increased implicit time of oscillatory potentials.

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All GO Annotations

16
GO References

5

Molecular Function

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

Biological Process

nucleic acid-templated transcription	carbohydrate derivative metabolism	cell death	cell differentiation	cell proliferation	cellular component organization	establishment of localization	homeostatic process	immune system process	lipid metabolic process	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	non-membrane-bounded organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	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

31
Tissues

19
cDNA Data

1
Literature Summary

2

Tissue x Stage Matrix

Other Mouse Links

GEO

Expression Atlas
Other Vertebrate Links

Xenbase cerkl

ZFIN cerkl

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Cerkl interacts with 14 markers (Mir125b-2, Mir144, Mir217, ...) View All

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All Sequences

107
RefSeq

20
UniProt

18
CCDS

CCDS38157.1

			Length	Strain/Species	Flank
genomic	OTTMUSG00000013312	VEGA Gene Model \| MGI Sequence Detail	126243	C57BL/6J	± kb
transcript	OTTMUST00000032178	VEGA \| MGI Sequence Detail	1623	Not Applicable
polypeptide	OTTMUSP00000014303	VEGA \| MGI Sequence Detail	525	Not Applicable

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SNPs within 2kb

788 from dbSNP Build 142

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UniProt

18 Sequences
Protein Ontology

PR:000005364 ceramide kinase-like protein

(term hierarchy)
InterPro Domains

IPR001206 Diacylglycerol kinase, catalytic domain

IPR017438 Inorganic polyphosphate/ATP-NAD kinase, N-terminal

IPR016064 NAD kinase/diacylglycerol kinase-like domain superfamily

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All nucleic 2

cDNA 1

Primer pair 1

Microarray probesets 2

Summaries

All 28

Developmental Gene Expression 2

Gene Ontology 5

Phenotypes 9
Earliest

J:100298 Spitz F, et al., Inversion-induced disruption of the Hoxd cluster leads to the partition of regulatory landscapes. Nat Genet. 2005 Aug;37(8):889-93
Latest

J:227263 Fabre PJ, et al., Nanoscale spatial organization of the HoxD gene cluster in distinct transcriptional states. Proc Natl Acad Sci U S A. 2015 Nov 10;112(45):13964-9

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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