Defb47 MGI Mouse Gene Detail - MGI:3644478

Symbol

Defb47
Name

defensin beta 47

Feature Type

protein coding gene
IDs

MGI:3644478
NCBI Gene: 654465
Alliance

gene page
Transcription Start Sites

1 TSS

Sequence Map

Chr14:63235526-63238609 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 14, 33.23 cM
Mapping Data

1 experiment

SNPs within 2kb

27 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_3644478	protein coding gene	Chr14:63229824-63238629 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0021452	protein coding gene	Chr14:57476796-57479744 (+)
A/J	MGP_AJ_G0021411	protein coding gene	Chr14:56187529-56190482 (+)
AKR/J	MGP_AKRJ_G0021387	protein coding gene	Chr14:58192274-58195226 (+)
BALB/cJ	MGP_BALBcJ_G0021417	protein coding gene	Chr14:56143857-56146810 (+)
C3H/HeJ	MGP_C3HHeJ_G0021194	protein coding gene	Chr14:57812354-57815302 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0021856	protein coding gene	Chr14:60225479-60228433 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0019396	protein coding gene	Chr14:54141503-54144345 (+)
CAST/EiJ	MGP_CASTEiJ_G0020711	protein coding gene	Chr14:54258181-54261120 (+)
CBA/J	MGP_CBAJ_G0021161	protein coding gene	Chr14:62009635-62012588 (+)
DBA/2J	MGP_DBA2J_G0021284	protein coding gene	Chr14:55843685-55846633 (+)
FVB/NJ	MGP_FVBNJ_G0021263	protein coding gene	Chr14:55264597-55267550 (+)
LP/J	MGP_LPJ_G0021359	protein coding gene	Chr14:58506883-58509831 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0021292	protein coding gene	Chr14:61284526-61287481 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0021879	protein coding gene	Chr14:57338759-57341712 (+)
PWK/PhJ	MGP_PWKPhJ_G0020455	protein coding gene	Chr14:52530818-52533756 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0020288	protein coding gene	Chr14:53318045-53320978 (+)
WSB/EiJ	MGP_WSBEiJ_G0020764	protein coding gene	Chr14:57656713-57659669 (+)

Human Ortholog

DEFB130A, defensin beta 130A

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

DEFB130A, defensin beta 130A
Synonyms

DEFB130, DEFB130L, DEFB30, DEFB-30
Links

HGNC:18107

NCBI Gene ID: 245940

neXtProt AC: NX_P0DP73, NX_P0DP74

UniProt: P0DP74
Chr Location

8p23.1

Human Ortholog

DEFB130B, defensin beta 130B
Links

HGNC:39814

NCBI Gene ID: 100133267

neXtProt AC: NX_P0DP73, NX_P0DP74

UniProt: P0DP73
Chr Location

8p23.1; chr8:12064389-12071747 (-) GRCh38

MGI Vertebrate Homology

Defb47 stringent orthology
2 human;1 mouse;1 rat
HCOP

vertebrate homology predictions: DEFB130A, DEFB130B
Gene Tree

Defb47

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Phenotype Summary

8 phenotype references

All Mutations and Alleles

5
Chemically induced (other)

1
Gene trapped

1
Targeted

3
Genomic Mutations

1 involving Defb47
Find Mice (IMSR)

6 strains or lines available

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All GO Annotations

6
GO References

2

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	non-membrane-bounded 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

710
Tissues

3
cDNA Data

2
Literature Summary

1

Images

Tissue x Stage Matrix

Other Mouse Links

GEO

Expression Atlas

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All Sequences

34
RefSeq

8
UniProt

1
CCDS

CCDS36945.1

Ensembl

ENSMUSG00000075573 (Evidence)
NCBI Gene

654465

			Length	Strain/Species	Flank
genomic	ENSMUSG00000075573	Ensembl Gene Model \| MGI Sequence Detail	3084	C57BL/6J	± kb
transcript	ENSMUST00000100492	Ensembl \| MGI Sequence Detail	359	Not Applicable
polypeptide	ENSMUSP00000098061	Ensembl \| MGI Sequence Detail	79	Not Applicable

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UniProt

1 Sequence

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All nucleic 2

cDNA 2

Microarray probesets 1

Summaries

All 20

Developmental Gene Expression 1

Gene Ontology 2

Phenotypes 8
Earliest

J:86696 Zambrowicz BP, et al., Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention. Proc Natl Acad Sci U S A. 2003 Nov 25;100(24):14109-14
Latest

J:228563 Koscielny G, et al., The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data. Nucleic Acids Res. 2014 Jan;42(Database issue):D802-9

TSS for Defb47:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr126043	Chr14:63235512-63235530 (+)	-5 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 04/16/2024 MGI 6.23