Clxn MGI Mouse Gene Detail - MGI:1914043

Symbol

Clxn
Name

calaxin
Synonyms

4930449A16Rik, 5430404L10Rik, Efcab1

Feature Type

protein coding gene
IDs

MGI:1914043
NCBI Gene: 66793
Alliance

gene page
Transcription Start Sites

1 TSS

Sequence Map

Chr16:14724315-14786925 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 16, 10.09 cM, cytoband B1
Mapping Data

3 experiments

SNPs within 2kb

1691 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1914043	protein coding gene	Chr16:14724315-14799235 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0022549	protein coding gene	Chr16:11986981-12004690 (+)
A/J	MGP_AJ_G0022511	protein coding gene	Chr16:11298090-11316060 (+)
AKR/J	MGP_AKRJ_G0022487	protein coding gene	Chr16:11790904-11810223 (+)
BALB/cJ	MGP_BALBcJ_G0022515	protein coding gene	Chr16:11462127-11483054 (+)
C3H/HeJ	MGP_C3HHeJ_G0022282	protein coding gene	Chr16:11877515-11895205 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0022964	protein coding gene	Chr16:12158392-12176150 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0020484	protein coding gene	Chr16:11459764-11480854 (+)
CAST/EiJ	MGP_CASTEiJ_G0021809	protein coding gene	Chr16:11880482-11898597 (+)
CBA/J	MGP_CBAJ_G0022251	protein coding gene	Chr16:12669019-12688778 (+)
DBA/2J	MGP_DBA2J_G0022382	protein coding gene	Chr16:11274328-11292186 (+)
FVB/NJ	MGP_FVBNJ_G0022358	protein coding gene	Chr16:11314716-11332626 (+)
LP/J	MGP_LPJ_G0022450	protein coding gene	Chr16:11847753-11866061 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0022380	protein coding gene	Chr16:12319456-12337591 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0022977	protein coding gene	Chr16:11745284-11771503 (+)
PWK/PhJ	MGP_PWKPhJ_G0021551	protein coding gene	Chr16:11522134-11541540 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0021380	protein coding gene	Chr16:11710239-11727382 (+)
WSB/EiJ	MGP_WSBEiJ_G0021857	protein coding gene	Chr16:11758138-11777071 (+)

Human Ortholog

CLXN, calaxin

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

CLXN, calaxin
Synonyms

CILD53, EFCAB1, ODAD5
Links

HGNC:25678

NCBI Gene ID: 79645

neXtProt AC: NX_Q9HAE3

UniProt: Q9HAE3
Chr Location

8q11.21; chr8:48710789-48735311 (-) GRCh38

MGI Vertebrate Homology

Clxn stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: CLXN
Gene Tree

Clxn

Diseases

1 with human CLXN associations

				Human Disease	Mouse Models
				primary ciliary dyskinesia IDs primary ciliary dyskinesia DOID:9562 DOID:2925 MESH:D002925 NCI:C84638 OMIM:PS244400 ORDO:244 UMLS_CUI:C0008780

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

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Phenotype Summary

17 phenotypes from 1 allele in 1 genetic background
4 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

4
Targeted

4
Incidental Mutations

CvDC
Find Mice (IMSR)

11 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygotes for a knock-out allele show partial lethality during fetal growth and development, hydrocephaly, situs inversus, enlarged brain ventricles, cardiac hypertrophy, reduced motility and fluid flows in sperm flagella and epithelial cilia, and defects in nodal cilia formation and motility.

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All GO Annotations

17
GO References

4

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

750
Tissues

7
cDNA Data

17
Literature Summary

3

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase clxn

ZFIN clxn

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All Sequences

53
RefSeq

11
UniProt

1
CCDS

CCDS27975.1

Ensembl

ENSMUSG00000068617 (Evidence)
NCBI Gene

66793

			Length	Strain/Species	Flank
genomic	66793	NCBI Gene Model \| MGI Sequence Detail	62611	C57BL/6J	± kb
transcript	NM_025769	RefSeq \| MGI Sequence Detail	1128	C57BL/6
polypeptide	Q9D3N2	UniProt \| EBI \| MGI Sequence Detail	212	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000030218 calaxin

(term hierarchy)
InterPro Domains

IPR018247 EF-Hand 1, calcium-binding site

IPR002048 EF-hand domain

IPR011992 EF-hand domain pair

IPR028846 Recoverin family

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All nucleic 18

cDNA 17

Primer pair 1

Microarray probesets 6

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MGI:1921909, MGI:7413977

Summaries

All 29

Developmental Gene Expression 3

Gene Ontology 4

Phenotypes 4
Earliest

J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
Latest

J:278278 Sasaki K, et al., Calaxin is required for cilia-driven determination of vertebrate laterality. Commun Biol. 2019;2:226

TSS for Clxn:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr137221	Chr16:14724486-14724544 (+)	200 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