Hpca MGI Mouse Gene Detail - MGI:1336200

Symbol

Hpca
Name

hippocalcin

Feature Type

protein coding gene
IDs

MGI:1336200
NCBI Gene: 15444
Alliance

gene page
Transcription Start Sites

14 TSS

Sequence Map

Chr4:129005363-129015829 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 4, 62.88 cM, cytoband D2-D3
Mapping Data

3 experiments

SNPs within 2kb

102 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1336200	protein coding gene	Chr4:129005363-129019712 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0028813	protein coding gene	Chr4:130968994-130979486 (-)
A/J	MGP_AJ_G0028772	protein coding gene	Chr4:125784466-125794883 (-)
AKR/J	MGP_AKRJ_G0028725	protein coding gene	Chr4:129274021-129284453 (-)
BALB/cJ	MGP_BALBcJ_G0028795	protein coding gene	Chr4:126363826-126374252 (-)
C3H/HeJ	MGP_C3HHeJ_G0028509	protein coding gene	Chr4:129321413-129331834 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0029237	protein coding gene	Chr4:135929259-135941806 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0026510	protein coding gene	Chr4:118912032-118922772 (-)
CAST/EiJ	MGP_CASTEiJ_G0027941	protein coding gene	Chr4:127484313-127508909 (-)
CBA/J	MGP_CBAJ_G0028475	protein coding gene	Chr4:139245008-139258876 (-)
DBA/2J	MGP_DBA2J_G0028624	protein coding gene	Chr4:126211633-126222065 (-)
FVB/NJ	MGP_FVBNJ_G0028591	protein coding gene	Chr4:124967637-124978795 (-)
LP/J	MGP_LPJ_G0028725	protein coding gene	Chr4:131279114-131291775 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0028617	protein coding gene	Chr4:144153238-144164949 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0029275	protein coding gene	Chr4:129641246-129652819 (-)
PWK/PhJ	MGP_PWKPhJ_G0027662	protein coding gene	Chr4:122773627-122794847 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0027490	protein coding gene	Chr4:125495557-125506660 (-)
WSB/EiJ	MGP_WSBEiJ_G0028022	protein coding gene	Chr4:129747915-129760346 (-)

Human Ortholog

HPCA, hippocalcin

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

HPCA, hippocalcin
Synonyms

BDR2, DYT2
Links

HGNC:5144

NCBI Gene ID: 3208

neXtProt AC: NX_P84074

UniProt: P84074
Chr Location

1p35.1; chr1:32885994-32898441 (+) GRCh38

MGI Vertebrate Homology

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

vertebrate homology predictions: HPCA
Gene Tree

Hpca

Diseases

1 with human HPCA associations

				Human Disease	Mouse Models
				torsion dystonia 2 IDs torsion dystonia 2 DOID:0090038 ICD10CM:G24.1 OMIM:224500 ORDO:99657

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

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Phenotype Summary

10 phenotypes from 2 alleles in 2 genetic backgrounds
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

9
Chemically induced (other)

2
Endonuclease-mediated

3
Gene trapped

1
Radiation induced

1
Targeted

2
Genomic Mutations

4 involving Hpca
Find Mice (IMSR)

12 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous null mice exhibit an age-dependent increase in neurodegeneration in the hippocampus and the cortex.

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All GO Annotations

50
GO References

8

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

748
Tissues

10
cDNA Data

24
Literature Summary

8

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase hpca

ZFIN hpca

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All Sequences

83
RefSeq

27
UniProt

4
CCDS

CCDS18682.1

Ensembl

ENSMUSG00000028785 (Evidence)
NCBI Gene

15444

			Length	Strain/Species	Flank
genomic	ENSMUSG00000028785	Ensembl Gene Model \| MGI Sequence Detail	10467	C57BL/6J	± kb
transcript	ENSMUST00000095807	Ensembl \| MGI Sequence Detail	1666	Not Applicable
polypeptide	ENSMUSP00000093486	Ensembl \| MGI Sequence Detail	193	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000008727 neuron-specific calcium-binding protein hippocalcin

(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 28

Genomic 1

cDNA 25

Primer pair 1

Other 1

Microarray probesets 4

Summaries

All 53

Developmental Gene Expression 8

Gene Ontology 8

Phenotypes 17
Earliest

J:51993 Masaki T, et al., Genomic structure and chromosomal mapping of the human and mouse hippocalcin genes. Gene. 1998 Dec 28;225(1-2):117-24
Latest

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

TSS for Hpca:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr43470	Chr4:129015857-129015888 (-)	-44 bp
Tssr43469	Chr4:129015845-129015856 (-)	-22 bp
Tssr43468	Chr4:129015492-129015527 (-)	319 bp
Tssr43467	Chr4:129015440-129015455 (-)	381 bp
Tssr43466	Chr4:129015394-129015417 (-)	423 bp
Tssr43465	Chr4:129015374-129015393 (-)	445 bp
Tssr43464	Chr4:129015027-129015108 (-)	761 bp
Tssr43463	Chr4:129012519-129012525 (-)	3,307 bp
Tssr43462	Chr4:129012502-129012509 (-)	3,323 bp
Tssr43461	Chr4:129005882-129005894 (-)	9,941 bp
Tssr43460	Chr4:129005768-129005784 (-)	10,053 bp
Tssr43459	Chr4:129005657-129005674 (-)	10,163 bp
Tssr43458	Chr4:129005632-129005645 (-)	10,190 bp
Tssr43457	Chr4:129005587-129005623 (-)	10,224 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 12/10/2024 MGI 6.24