Cabp2 MGI Mouse Gene Detail - MGI:1352749 - calcium binding protein 2

Symbol

Cabp2
Name

calcium binding protein 2

Feature Type

protein coding gene
IDs

MGI:1352749
NCBI Gene: 29866
Alliance

gene page
Transcription Start Sites

5 TSS

Sequence Map

Chr19:4131578-4137340 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 19, 3.79 cM, cytoband A
Mapping Data

3 experiments

SNPs within 2kb

39 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1352749	protein coding gene	Chr19:4131469-4137340 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0024644	protein coding gene	Chr19:911624-917386 (+)
A/J	MGP_AJ_G0024610	protein coding gene	Chr19:882751-888513 (+)
AKR/J	MGP_AKRJ_G0024583	protein coding gene	Chr19:901608-907370 (+)
BALB/cJ	MGP_BALBcJ_G0024610	protein coding gene	Chr19:871617-877379 (+)
C3H/HeJ	MGP_C3HHeJ_G0024378	protein coding gene	Chr19:899136-904898 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0025058	protein coding gene	Chr19:945854-951616 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0022487	protein coding gene	Chr19:824397-830137 (+)
CAST/EiJ	MGP_CASTEiJ_G0023850	protein coding gene	Chr19:907134-912908 (+)
CBA/J	MGP_CBAJ_G0024349	protein coding gene	Chr19:1008617-1014379 (+)
DBA/2J	MGP_DBA2J_G0024477	protein coding gene	Chr19:842312-848074 (+)
FVB/NJ	MGP_FVBNJ_G0024444	protein coding gene	Chr19:850379-856141 (+)
LP/J	MGP_LPJ_G0024563	protein coding gene	Chr19:904679-910441 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0024474	protein coding gene	Chr19:957365-963127 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0025105	protein coding gene	Chr19:902107-907869 (+)
PWK/PhJ	MGP_PWKPhJ_G0023596	protein coding gene	Chr19:893379-899137 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0023401	protein coding gene	Chr19:885189-890924 (+)
WSB/EiJ	MGP_WSBEiJ_G0023912	protein coding gene	Chr19:885223-890986 (+)

Human Ortholog

CABP2, calcium binding protein 2

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

CABP2, calcium binding protein 2
Synonyms

DFNB93
Links

HGNC:1385

NCBI Gene ID: 51475

neXtProt AC: NX_Q9NPB3

UniProt: Q9NPB3
Chr Location

11q13.2; chr11:67518912-67524517 (-) GRCh38

MGI Vertebrate Homology

Cabp2 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: CABP2
Gene Tree

Cabp2

Diseases

1 with Cabp2 mouse models; 1 with human CABP2 associations

Human Disease

Mouse Models

autosomal recessive nonsyndromic deafness 93

IDs

View 1 model

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

Mutations/Alleles

1 with disease annotations

References

1 with disease annotations

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Phenotype Summary

15 phenotypes from 3 alleles in 3 genetic backgrounds
8 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

2
Targeted

6
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

22 strains or lines available

Homozygous knockout affects calcium channels in cochlear inner hair cell synapses, resulting in hearing impairment. It also affects transmission of responses to light through the retinal circuits.

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All GO Annotations

10
GO References

6

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

706
cDNA Data

5

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

ZFIN cabp2a

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All Sequences

61
RefSeq

20
UniProt

5
CCDS

CCDS29413.2, CCDS50348.1, CCDS50349.1

Ensembl

ENSMUSG00000024857 (Evidence)
NCBI Gene

29866

			Length	Strain/Species	Flank
genomic	ENSMUSG00000024857	Ensembl Gene Model \| MGI Sequence Detail	5763	C57BL/6J	± kb
transcript	ENSMUST00000162908	Ensembl \| MGI Sequence Detail	911	Not Applicable
polypeptide	ENSMUSP00000125255	Ensembl \| MGI Sequence Detail	221	Not Applicable

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UniProt

5 Sequences
Protein Ontology

PR:000004934 calcium-binding protein 2

(term hierarchy)
InterPro Domains

IPR043582 Calcium binding protein 1/2/4/5

IPR018247 EF-Hand 1, calcium-binding site

IPR002048 EF-hand domain

IPR011992 EF-hand domain pair

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All nucleic 5

cDNA 5

Microarray probesets 4

Summaries

All 32

Diseases 1

Gene Ontology 6

Phenotypes 8
Earliest

J:59389 Haeseleer F, et al., Five members of a novel Ca(2+)-binding protein (CABP) subfamily with similarity to calmodulin. J Biol Chem. 2000 Jan 14;275(2):1247-60
Latest

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

TSS for Cabp2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr154256	Chr19:4131434-4131467 (+)	-127 bp
Tssr154257	Chr19:4131565-4131583 (+)	-4 bp
Tssr154258	Chr19:4132473-4132517 (+)	917 bp
Tssr154259	Chr19:4132518-4132533 (+)	948 bp
Tssr154260	Chr19:4132539-4132545 (+)	964 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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