Camsap3 MGI Mouse Gene Detail - MGI:1916947 - calmodulin regulated spectrin-associated protein family, member 3

Symbol

Camsap3
Name

calmodulin regulated spectrin-associated protein family, member 3
Synonyms

2310057J16Rik, Nezha

Feature Type

protein coding gene
IDs

MGI:1916947
NCBI Gene: 69697
Alliance

gene page
Transcription Start Sites

16 TSS

Sequence Map

Chr8:3637293-3659075 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 8, 1.92 cM, cytoband A1.1
Mapping Data

2 experiments

SNPs within 2kb

458 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1916947	protein coding gene	Chr8:3637237-3659075 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0033308	protein coding gene	Chr8:527823-554129 (+)
A/J	MGP_AJ_G0033291	protein coding gene	Chr8:501979-524656 (+)
AKR/J	MGP_AKRJ_G0033222	protein coding gene	Chr8:528146-553178 (+)
BALB/cJ	MGP_BALBcJ_G0033291	protein coding gene	Chr8:527640-549438 (+)
C3H/HeJ	MGP_C3HHeJ_G0033005	protein coding gene	Chr8:534704-565500 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0033801	protein coding gene	Chr8:574695-596320 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0030774	protein coding gene	Chr8:451091-475129 (+)
CAST/EiJ	MGP_CASTEiJ_G0032328	protein coding gene	Chr8:536517-559597 (+)
CBA/J	MGP_CBAJ_G0032978	protein coding gene	Chr8:579570-610794 (+)
DBA/2J	MGP_DBA2J_G0033132	protein coding gene	Chr8:472117-495923 (+)
FVB/NJ	MGP_FVBNJ_G0033079	protein coding gene	Chr8:520153-544446 (+)
LP/J	MGP_LPJ_G0033224	protein coding gene	Chr8:516403-538543 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0033114	protein coding gene	Chr8:561285-590147 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0033819	protein coding gene	Chr8:521754-546640 (+)
PWK/PhJ	MGP_PWKPhJ_G0032038	protein coding gene	Chr8:498140-523545 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0031882	protein coding gene	Chr8:513574-536633 (+)
WSB/EiJ	MGP_WSBEiJ_G0032441	protein coding gene	Chr8:519038-541463 (+)

Human Ortholog

CAMSAP3, calmodulin regulated spectrin associated protein family member 3

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

CAMSAP3, calmodulin regulated spectrin associated protein family member 3
Synonyms

KIAA1543, NEZHA, PPP1R80
Links

HGNC:29307

NCBI Gene ID: 57662

neXtProt AC: NX_Q9P1Y5

UniProt: Q9P1Y5
Chr Location

19p13.2; chr19:7595863-7618304 (+) GRCh38

MGI Vertebrate Homology

Camsap3 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: CAMSAP3
Gene Tree

Camsap3

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Phenotype Summary

49 phenotypes from 2 alleles in 3 genetic backgrounds
3 phenotypes from multigenic genotypes
17 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

15
Endonuclease-mediated

2
Gene trapped

8
Targeted

5
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

65 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous null mice show variable vascular, liver, nervous system, rib and eye defects. Homozygotes for an allele disrupting microtubule binding show partial lethality, small body size, abnormal microtubule alignment in polarized epithelial cells, and multiple axon formation in hippocampal neurons.

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All GO Annotations

61
GO References

13

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

734
Tissues

16
cDNA Data

53
Literature Summary

6

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase camsap3

ZFIN camsap3

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All Sequences

111
RefSeq

40
UniProt

3
CCDS

CCDS22064.1, CCDS52469.1, CCDS85488.1, CCDS85489.1, CCDS85490.1, CCDS90365.1, CCDS90366.1, CCDS90367.1

Ensembl

ENSMUSG00000044433 (Evidence)
NCBI Gene

69697

			Length	Strain/Species	Flank
genomic	ENSMUSG00000044433	Ensembl Gene Model \| MGI Sequence Detail	21783	C57BL/6J	± kb
transcript	ENSMUST00000207432	Ensembl \| MGI Sequence Detail	3865	Not Applicable
polypeptide	ENSMUSP00000146896	Ensembl \| MGI Sequence Detail	1279	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000032436 calmodulin-regulated spectrin-associated protein 3

(term hierarchy)
PDB

1UGJ, 5LZN, 5M50, 5OW5, 7WEK
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
GlyGen

Q80VC9 4 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (3 sites)

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All nucleic 53

cDNA 53

Microarray probesets 3

Summaries

All 56

Developmental Gene Expression 6

Gene Ontology 13

Phenotypes 17
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:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Camsap3:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr76059	Chr8:3637445-3637487 (+)	173 bp
Tssr76060	Chr8:3637610-3637637 (+)	331 bp
Tssr76061	Chr8:3637640-3637687 (+)	371 bp
Tssr76062	Chr8:3637697-3637711 (+)	411 bp
Tssr76063	Chr8:3637784-3637802 (+)	500 bp
Tssr76064	Chr8:3646520-3646524 (+)	9,229 bp
Tssr76065	Chr8:3648315-3648325 (+)	11,027 bp
Tssr76066	Chr8:3648339-3648349 (+)	11,051 bp
Tssr76067	Chr8:3648354-3648369 (+)	11,069 bp
Tssr76068	Chr8:3648371-3648401 (+)	11,093 bp
Tssr76069	Chr8:3648443-3648454 (+)	11,156 bp
Tssr76070	Chr8:3648593-3648614 (+)	11,311 bp
Tssr76071	Chr8:3648642-3648671 (+)	11,364 bp
Tssr76072	Chr8:3649521-3649571 (+)	12,253 bp
Tssr76073	Chr8:3650651-3650683 (+)	13,374 bp
Tssr76074	Chr8:3653364-3653406 (+)	16,092 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)
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