Bglap2 MGI Mouse Gene Detail - MGI:88157 - bone gamma-carboxyglutamate protein 2

Symbol

Bglap2
Name

bone gamma-carboxyglutamate protein 2
Synonyms

bone Gla protein, mOC-B, OG2, osteocalcin

Feature Type

protein coding gene
IDs

MGI:88157
NCBI Gene: 12097
Alliance

gene page
Transcription Start Sites

1 TSS
Candidate for QTL

1 QTL

Sequence Map

Chr3:88285043-88286006 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 3, 38.81 cM
Mapping Data

5 experiments

SNPs within 2kb

120 from dbSNP Build 142
Strain Annotations

10

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_88157	protein coding gene	Chr3:88285043-88286008 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0027393	protein coding gene	Chr3:88524978-88529437 (-)
A/J	no annotation
AKR/J	no annotation
BALB/cJ	no annotation
C3H/HeJ	no annotation
C57BL/6NJ	MGP_C57BL6NJ_G0027813	protein coding gene	Chr3:91809205-91824765 (-)
CAROLI/EiJ	no annotation
CAST/EiJ	no annotation
CBA/J	no annotation
DBA/2J	MGP_DBA2J_G0027221	protein coding gene	Chr3:85027430-85028394 (-)
FVB/NJ	MGP_FVBNJ_G0027189	protein coding gene	Chr3:83304053-83308397 (-)
LP/J	MGP_LPJ_G0027330	protein coding gene	Chr3:89552373-89553298 (-)
NOD/ShiLtJ	no annotation
NZO/HlLtJ	MGP_NZOHlLtJ_G0027871	protein coding gene	Chr3:87386732-87387671 (-)
PWK/PhJ	MGP_PWKPhJ_G0026289	protein coding gene	Chr3:84813660-84814624 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0026107	protein coding gene	Chr3:86576471-86577435 (-)
WSB/EiJ	MGP_WSBEiJ_G0026637	protein coding gene	Chr3:87754534-87755648 (-)

Human Ortholog

BGLAP, bone gamma-carboxyglutamate protein

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

BGLAP, bone gamma-carboxyglutamate protein
Synonyms

BGP, OC, OCN
Links

HGNC:1043

NCBI Gene ID: 632

neXtProt AC: NX_P02818

UniProt: P02818
Chr Location

1q22; chr1:156242184-156243317 (+) GRCh38

MGI Vertebrate Homology

Bglap2 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: BGLAP
Gene Tree

Bglap2

Diseases

5 with human BGLAP associations

				Human Disease	Mouse Models
				osteoarthritis IDs osteoarthritis DOID:8398 ICD9CM:715.3 UMLS_CUI:C0157946
				osteoporosis IDs osteoporosis DOID:11476 EFO:0003882 ICD10CM:M81.0 ICD9CM:733.0 ICD9CM:733.00 MESH:D010024 NCI:C3298 OMIM:166710 UMLS_CUI:C0029456
				prostate cancer IDs prostate cancer DOID:10283 DOID:514 ICD10CM:C61 ICD9CM:185 KEGG:05215 MESH:D011471 NCI:C3343 NCI:C7378 OMIM:176807 OMIM:300147 OMIM:300704 OMIM:601518 OMIM:602759 OMIM:608656 OMIM:608658 OMIM:609299 OMIM:609558 OMIM:610321 OMIM:610997 OMIM:611100 OMIM:611868 OMIM:611928 OMIM:611955 OMIM:611958 OMIM:611959 ORDO:1331 UMLS_CUI:C0033578 UMLS_CUI:C0376358
				rheumatoid arthritis IDs rheumatoid arthritis DOID:7148 EFO:0000685 ICD10CM:M06.9 ICD9CM:714.0 KEGG:05323 MESH:D001172 NCI:C2884 OMIM:180300 UMLS_CUI:C0003873
				vitamin K deficiency bleeding IDs vitamin K deficiency bleeding DOID:11249 ICD10CM:E56.1 ICD9CM:269.0 MESH:D014813 NCI:C99108 UMLS_CUI:C0042880

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

References

1 with disease annotations

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Phenotype Summary

38 phenotypes from 2 alleles in 4 genetic backgrounds
10 phenotypes from multigenic genotypes
33 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

10
Chemically induced (other)

1
Endonuclease-mediated

5
Radiation induced

1
Targeted

3
Genomic Mutations

5 involving Bglap2
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

9 strains or lines available
Comparison Matrix

Gene Expression + Phenotype
Recombinase Activity

Comparison Matrix Gene Expression + Recombinase Activity

Mice homozygous for a knock-out allele of both Bglap1 and Bglap2 exhibit decreased circulating insulin, impaired glucose tolerance, increased adipose tissue, increased bone density, and decreased male fertility.

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All GO Annotations

42
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

927
Tissues

97
cDNA Data

4
Literature Summary

223

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

GEO

Expression Atlas
Other Vertebrate Links

Xenbase bglap2

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All Sequences

23
RefSeq

2
UniProt

1
CCDS

CCDS17473.1

Ensembl

ENSMUSG00000074486 (Evidence)
NCBI Gene

12097

			Length	Strain/Species	Flank
genomic	ENSMUSG00000074486	Ensembl Gene Model \| MGI Sequence Detail	964	C57BL/6J	± kb
transcript	ENSMUST00000098956	Ensembl \| MGI Sequence Detail	471	Not Applicable
polypeptide	ENSMUSP00000096555	Ensembl \| MGI Sequence Detail	95	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000032881 osteocalcin-2

(term hierarchy)
InterPro Domains

IPR000294 Gamma-carboxyglutamic acid-rich (GLA) domain

IPR035972 Gamma-carboxyglutamic acid-rich (GLA) domain superfamily

IPR039176 Osteocalcin

IPR002384 Osteocalcin/matrix Gla protein

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All nucleic 55

Genomic 5

cDNA 13

Primer pair 14

Other 23

Microarray probesets 1

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MGD-MRK-1553

Summaries

All 304

Developmental Gene Expression 223

Diseases 1

Gene Ontology 13

Phenotypes 33
Earliest

J:8426 Celeste AJ, et al., Isolation of the human gene for bone gla protein utilizing mouse and rat cDNA clones. EMBO J. 1986 Aug;5(8):1885-90
Latest

J:353622 Dinesh NEH, et al., Fibronectin Isoforms Promote Postnatal Skeletal Development. Matrix Biol. 2024 Aug 17;

TSS for Bglap2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr34007	Chr3:88286047-88286060 (-)	-48 bp

Bglap2 is Candidate Gene for:

QTL	Genetic Location*	Genome Location (GRCm39)	Reference	QTL Note
Cdcs1	Chr3, 56.07 cM	Chr3:126834882-126835005	J:109420	Microarray analysis was used to identify candidate genes for colitis susceptibility QTLs. Messenger RNA was analyzed for expression differences between colitis susceptible inbred strain C3H/HeJBir-Il10 and colitis resistant inbred strain C57BL/6J-Il10. Gbp2b (67.4 cM) on mouse Chromosome 3 is upregulated over 15-fold in C3H/HeJBir-Il10 animals. This candidate gene is known to be polymorphic between C3H/HeJBir and C57BL/6J and exhibits expression differences in these parental wildtype strains. Gbp1 maps to the Cdcs1 (cytokine deficiency colitis susceptibility 1) interval centered near 62 cM. Adh1 at 71.2 cM and Bglap2 at 42.6 cM also map to the same QTL interval. Adh1 is upregulated 1.5- to 2-fold, and Blgap2 is upregulated 2- to5-fold, in C3H/HeJBir-Il10animals.

*cM position of peak correlated region/marker

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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