Itgb1bp2 MGI Mouse Gene Detail - MGI:1353420 - integrin beta 1 binding protein 2

Symbol

Itgb1bp2
Name

integrin beta 1 binding protein 2
Synonyms

Chordc3, melusin

Feature Type

protein coding gene
IDs

MGI:1353420
NCBI Gene: 26549
Alliance

gene page
Transcription Start Sites

7 TSS

Sequence Map

ChrX:100492694-100497147 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome X, 44.17 cM, cytoband D
Mapping Data

2 experiments

SNPs within 2kb

151 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1353420	protein coding gene	ChrX:100492694-100520391 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0035962	protein coding gene	ChrX:97962056-97966509 (+)
A/J	MGP_AJ_G0035947	protein coding gene	ChrX:97960215-97964668 (+)
AKR/J	MGP_AKRJ_G0035863	protein coding gene	ChrX:100778548-100783001 (+)
BALB/cJ	MGP_BALBcJ_G0035930	protein coding gene	ChrX:96710448-96714901 (+)
C3H/HeJ	MGP_C3HHeJ_G0035639	protein coding gene	ChrX:98368696-98373149 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0036459	protein coding gene	ChrX:100865736-100870189 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0033289	protein coding gene	ChrX:95709310-95713712 (+)
CAST/EiJ	MGP_CASTEiJ_G0034926	protein coding gene	ChrX:82673087-82677540 (+)
CBA/J	MGP_CBAJ_G0035614	protein coding gene	ChrX:103995059-103999512 (+)
DBA/2J	MGP_DBA2J_G0035768	protein coding gene	ChrX:97170442-97174895 (+)
FVB/NJ	MGP_FVBNJ_G0035706	protein coding gene	ChrX:96553828-96558281 (+)
LP/J	MGP_LPJ_G0035858	protein coding gene	ChrX:98918412-98922865 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0035741	protein coding gene	ChrX:108539638-108544091 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0036486	protein coding gene	ChrX:97659143-97663825 (+)
PWK/PhJ	MGP_PWKPhJ_G0034625	protein coding gene	ChrX:80274637-80279099 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0034453	protein coding gene	ChrX:83578392-83582849 (+)
WSB/EiJ	MGP_WSBEiJ_G0035065	protein coding gene	ChrX:96362833-96367515 (+)

Human Ortholog

ITGB1BP2, integrin subunit beta 1 binding protein 2

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

ITGB1BP2, integrin subunit beta 1 binding protein 2
Synonyms

CHORDC3, ITGB1BP, MELUSIN, MSTP015
Links

HGNC:6154

NCBI Gene ID: 26548

neXtProt AC: NX_Q9UKP3

UniProt: Q9UKP3
Chr Location

Xq13.1; chrX:71301750-71305371 (+) GRCh38

MGI Vertebrate Homology

Itgb1bp2 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: ITGB1BP2
Gene Tree

Itgb1bp2

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Phenotype Summary

2 phenotypes from 1 allele in 1 genetic background
4 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

3
Gene trapped

1
Targeted

2
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

5 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mutant animals show normal cardiac structure and function under physiological conditions. When subjected to pressure overload, mutant hearts display contractile dysfunction and dilated cardiomyopathy.

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All GO Annotations

16
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

840
Tissues

16
cDNA Data

24
Literature Summary

4

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase itgb1bp2

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All Sequences

42
RefSeq

14
UniProt

1
CCDS

CCDS41079.1

Ensembl

ENSMUSG00000031312 (Evidence)
NCBI Gene

26549

			Length	Strain/Species	Flank
genomic	ENSMUSG00000031312	Ensembl Gene Model \| MGI Sequence Detail	4454	C57BL/6J	± kb
transcript	ENSMUST00000033674	Ensembl \| MGI Sequence Detail	1314	Not Applicable
polypeptide	ENSMUSP00000033674	Ensembl \| MGI Sequence Detail	350	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000009137 integrin beta-1-binding protein 2

(term hierarchy)
InterPro Domains

IPR007051 CHORD domain

IPR007052 CS domain

IPR008978 HSP20-like chaperone

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All nucleic 26

Genomic 1

cDNA 24

Primer pair 1

Microarray probesets 3

Summaries

All 33

Developmental Gene Expression 4

Gene Ontology 8

Phenotypes 4
Earliest

J:57924 Brancaccio M, et al., Melusin is a new muscle-specific interactor for beta(1) integrin cytoplasmic domain. J Biol Chem. 1999 Oct 8;274(41):29282-8
Latest

J:307814 Tannous C, et al., NMRK2 Gene Is Upregulated in Dilated Cardiomyopathy and Required for Cardiac Function and NAD Levels during Aging. Int J Mol Sci. 2021 Mar 29;22(7)

TSS for Itgb1bp2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr161668	ChrX:100491494-100491512 (+)	-1,191 bp
Tssr161669	ChrX:100491522-100491544 (+)	-1,161 bp
Tssr161670	ChrX:100491597-100491607 (+)	-1,092 bp
Tssr161671	ChrX:100492667-100492674 (+)	-23 bp
Tssr161672	ChrX:100492684-100492695 (+)	-4 bp
Tssr161673	ChrX:100492709-100492741 (+)	31 bp
Tssr161674	ChrX:100492770-100492776 (+)	79 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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