Camsap2 MGI Mouse Gene Detail - MGI:1922434 - calmodulin regulated spectrin-associated protein family, member 2

Symbol

Camsap2
Name

calmodulin regulated spectrin-associated protein family, member 2
Synonyms

1600013L13Rik, 4930541M15Rik, Camsap1l1, mKIAA1078

Feature Type

protein coding gene
IDs

MGI:1922434
NCBI Gene: 67886
Alliance

gene page
Transcription Start Sites

5 TSS

Sequence Map

Chr1:136195861-136273842 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 1, 59.61 cM
Mapping Data

1 experiment

SNPs within 2kb

1841 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1922434	protein coding gene	Chr1:136195861-136273855 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0016540	protein coding gene	Chr1:140084838-140176388 (-)
A/J	MGP_AJ_G0016523	protein coding gene	Chr1:134776230-134853742 (-)
AKR/J	MGP_AKRJ_G0016488	protein coding gene	Chr1:138781951-138861784 (-)
BALB/cJ	MGP_BALBcJ_G0016483	protein coding gene	Chr1:135106978-135182778 (-)
C3H/HeJ	MGP_C3HHeJ_G0016309	protein coding gene	Chr1:138876505-138956535 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0016944	protein coding gene	Chr1:145103248-145186630 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0014655	protein coding gene	Chr1:127885788-127963334 (-)
CAST/EiJ	MGP_CASTEiJ_G0015889	protein coding gene	Chr1:137977760-138055910 (-)
CBA/J	MGP_CBAJ_G0016282	protein coding gene	Chr1:150134548-150219700 (-)
DBA/2J	MGP_DBA2J_G0016388	protein coding gene	Chr1:133769465-133847111 (-)
FVB/NJ	MGP_FVBNJ_G0016387	protein coding gene	Chr1:132418803-132495174 (-)
LP/J	MGP_LPJ_G0016459	protein coding gene	Chr1:141304544-141381751 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0016412	protein coding gene	Chr1:155771331-155852204 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0016980	protein coding gene	Chr1:138546241-138628580 (-)
PWK/PhJ	MGP_PWKPhJ_G0015675	protein coding gene	Chr1:132819483-132898981 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0015462	protein coding gene	Chr1:137538864-137619232 (-)
WSB/EiJ	MGP_WSBEiJ_G0015952	protein coding gene	Chr1:138590642-138668730 (-)

Human Ortholog

CAMSAP2, calmodulin regulated spectrin associated protein family member 2

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

CAMSAP2, calmodulin regulated spectrin associated protein family member 2
Synonyms

CAMSAP1L1
Links

HGNC:29188

NCBI Gene ID: 23271

neXtProt AC: NX_Q08AD1

UniProt: Q08AD1
Chr Location

1q32.1; chr1:200738893-200860704 (+) GRCh38

MGI Vertebrate Homology

Camsap2 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: CAMSAP2
Gene Tree

Camsap2

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Phenotype Summary

4 phenotypes from 1 allele in 1 genetic background
3 phenotypes from multigenic genotypes
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

9
Chemically induced (other)

2
Endonuclease-mediated

1
Gene trapped

4
Radiation induced

1
Targeted

1
Genomic Mutations

3 involving Camsap2
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

66 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knockout allele exhibit postnatal growth retardation, decreased body and brain size, and abnormal dendrite morphology.

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All GO Annotations

35
GO References

7

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

851
Tissues

25
cDNA Data

135
Literature Summary

5

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase camsap2

ZFIN camsap2a

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All Sequences

61
RefSeq

14
UniProt

5
CCDS

CCDS35725.1, CCDS83597.1, CCDS83598.1

Ensembl

ENSMUSG00000041570 (Evidence)
NCBI Gene

67886

			Length	Strain/Species	Flank
genomic	ENSMUSG00000041570	Ensembl Gene Model \| MGI Sequence Detail	77982	C57BL/6J	± kb
transcript	ENSMUST00000048309	Ensembl \| MGI Sequence Detail	7823	Not Applicable
polypeptide	ENSMUSP00000041920	Ensembl \| MGI Sequence Detail	1478	Not Applicable

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UniProt

5 Sequences
Protein Ontology

PR:000004999 calmodulin-regulated spectrin-associated protein 1-like protein 1

(term hierarchy)
InterPro Domains

IPR032940 Calmodulin-regulated spectrin-associated protein

IPR022613 Calmodulin-regulated spectrin-associated protein-like, Calponin-homology domain

IPR001715 Calponin homology domain

IPR031372 CAMSAP, spectrin and Ca2+/calmodulin-binding region

IPR036872 CH domain superfamily

IPR014797 CKK domain

IPR038209 CKK domain superfamily

IPR011033 PRC-barrel-like superfamily

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All nucleic 135

cDNA 135

Microarray probesets 6

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MGI:1915136

Summaries

All 42

Developmental Gene Expression 5

Gene Ontology 7

Phenotypes 9
Earliest

J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
Latest

J:326541 Cyagen Biosciences Inc., Cyagen Biosciences Website. 2022;

TSS for Camsap2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr13939	Chr1:136273812-136273883 (-)	-6 bp
Tssr13938	Chr1:136273705-136273721 (-)	129 bp
Tssr13937	Chr1:136273519-136273548 (-)	308 bp
Tssr13936	Chr1:136208321-136208339 (-)	65,512 bp
Tssr13935	Chr1:136208283-136208300 (-)	65,550 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