Bhlhb9 MGI Mouse Gene Detail - MGI:1917487 - basic helix-loop-helix domain containing, class B9

Symbol

Bhlhb9
Name

basic helix-loop-helix domain containing, class B9
Synonyms

2700087I09Rik

Feature Type

protein coding gene
IDs

MGI:1917487
NCBI Gene: 70237
Alliance

gene page
Transcription Start Sites

4 TSS

Sequence Map

ChrX:134742388-134791828 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome X, 57.31 cM
Mapping Data

1 experiment

SNPs within 2kb

1047 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1917487	protein coding gene	ChrX:134698343-134791830 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0036091	protein coding gene	ChrX:133241016-133246266 (+)
A/J	MGP_AJ_G0036070	protein coding gene	ChrX:132635472-132640702 (+)
AKR/J	MGP_AKRJ_G0035996	protein coding gene	ChrX:136896453-136901734 (+)
BALB/cJ	MGP_BALBcJ_G0036060	protein coding gene	ChrX:131027569-131032845 (+)
C3H/HeJ	MGP_C3HHeJ_G0035770	protein coding gene	ChrX:133237578-133242808 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0036582	protein coding gene	ChrX:137059659-137064889 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0033411	protein coding gene	ChrX:124657045-124662278 (+)
CAST/EiJ	MGP_CASTEiJ_G0035057	protein coding gene	ChrX:114145857-114151082 (+)
CBA/J	MGP_CBAJ_G0035744	protein coding gene	ChrX:141274251-141279481 (+)
DBA/2J	MGP_DBA2J_G0035900	protein coding gene	ChrX:131974735-131979985 (+)
FVB/NJ	MGP_FVBNJ_G0035837	protein coding gene	ChrX:131156409-131161969 (+)
LP/J	MGP_LPJ_G0035993	protein coding gene	ChrX:134161010-134166247 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0035871	protein coding gene	ChrX:148643954-148649184 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0036618	protein coding gene	ChrX:132583322-132588552 (+)
PWK/PhJ	MGP_PWKPhJ_G0034748	protein coding gene	ChrX:111065910-111071171 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0034580	protein coding gene	ChrX:114780489-114785721 (+)
WSB/EiJ	MGP_WSBEiJ_G0035190	protein coding gene	ChrX:130923582-130928806 (+)

Human Ortholog

ARMCX5-GPRASP2, ARMCX5-GPRASP2 readthrough

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

ARMCX5-GPRASP2, ARMCX5-GPRASP2 readthrough
Synonyms

ARMCX5-GPRASP2-BHLHB9-LINC00630, bHLHb9, GPRASP3, p60TRP
Links

HGNC:42000

NCBI Gene ID: 100528062

neXtProt AC: NX_Q96D09

UniProt: Q6PI77, Q96D09
Chr Location

Xq22.1; chrX:102599348-102908064 (+) GRCh38

Human Ortholog

GPRASP3, G protein-coupled receptor associated sorting protein family member 3
Synonyms

BHLHB9, GASP3, p60TRP
Links

HGNC:29353

NCBI Gene ID: 80823

neXtProt AC: NX_Q6PI77

UniProt: Q6PI77
Chr Location

Xq22.1; chrX:102720688-102753540 (+) GRCh38

MGI Vertebrate Homology

Bhlhb9 stringent orthology
2 human;1 mouse;1 rat
HCOP

vertebrate homology predictions: ARMCX5-GPRASP2, GPRASP3
Gene Tree

Bhlhb9

Diseases

1 with human GPRASP2 associations

				Human Disease	Mouse Models
				X-linked deafness 7 IDs X-linked deafness 7 DOID:0111738 OMIM:301018 ORDO:500188

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

References

1 with disease annotations

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Phenotype Summary

8 phenotype references

All Mutations and Alleles

10
Gene trapped

6
Targeted

4
Genomic Mutations

1 involving Bhlhb9
Find Mice (IMSR)

7 strains or lines available

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All GO Annotations

11
GO References

4

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

893
Tissues

60
cDNA Data

71
Literature Summary

4

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas

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All Sequences

56
RefSeq

10
UniProt

2
CCDS

CCDS30410.1

Ensembl

ENSMUSG00000072964 (Evidence)
NCBI Gene

70237

			Length	Strain/Species	Flank
genomic	70237	NCBI Gene Model \| MGI Sequence Detail	49441	C57BL/6J	± kb
transcript	NM_198161	RefSeq \| MGI Sequence Detail	2747	C57BL/6
polypeptide	Q6PB60	UniProt \| EBI \| MGI Sequence Detail	539	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000004737 G protein-coupled receptor associated sorting protein 3

(term hierarchy)
InterPro Domains

IPR011989 Armadillo-like helical

IPR006911 Armadillo repeat-containing domain

IPR016024 Armadillo-type fold

IPR043374 GPCR-associated sorting protein 1-3

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All nucleic 72

cDNA 71

Primer pair 1

Microarray probesets 3

Summaries

All 34

Developmental Gene Expression 4

Diseases 1

Gene Ontology 4

Phenotypes 8
Earliest

J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
Latest

J:210663 Zhou J, et al., Respiratory failure, cleft palate and epilepsy in the mouse model of human Xq22.1 deletion syndrome. Hum Mol Genet. 2014 Jul 15;23(14):3823-9

TSS for Bhlhb9:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr162026	ChrX:134786609-134786646 (+)	44,240 bp
Tssr162027	ChrX:134786652-134786692 (+)	44,284 bp
Tssr162028	ChrX:134786698-134786727 (+)	44,325 bp
Tssr162029	ChrX:134786735-134786768 (+)	44,364 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