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Gene: GJB2 (gap junction protein beta 2) Chlorocebus sabaeus

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Symbol:

GJB2

Name:

gap junction protein beta 2

RGD ID:

18376829

Description:

ENCODES a protein that exhibits gap junction channel activity (ortholog); INVOLVED IN cellular response to dexamethasone stimulus (ortholog); cellular response to glucagon stimulus (ortholog); cellular response to oxidative stress (ortholog); ASSOCIATED WITH autism spectrum disorder (ortholog); autoimmune thyroiditis (ortholog); autosomal dominant keratitis-ichthyosis-deafness syndrome (ortholog); FOUND IN astrocyte projection (ortholog); cell body (ortholog); cell junction (ortholog)

Type:

protein-coding

RefSeq Status:

MODEL

Previously known as:

gap junction beta-2 protein

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Latest Assembly:

ChlSab1.1 - Green Monkey 1.1 Assembly

Position:

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	3	801,786 - 808,165 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	3	807,379 - 808,059 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666057	43,777,267 - 43,781,704 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

autism spectrum disorder (ISO)

autoimmune thyroiditis (ISO)

autosomal dominant keratitis-ichthyosis-deafness syndrome (ISO)

autosomal dominant nonsyndromic deafness 3A (ISO)

autosomal dominant nonsyndromic deafness 3B (ISO)

autosomal recessive nonsyndromic deafness (ISO)

autosomal recessive nonsyndromic deafness 104 (ISO)

autosomal recessive nonsyndromic deafness 12 (ISO)

autosomal recessive nonsyndromic deafness 1A (ISO)

autosomal recessive nonsyndromic deafness 1B (ISO)

Bart-Pumphrey syndrome (ISO)

cataract 14 multiple types (ISO)

cellulitis (ISO)

Clouston syndrome (ISO)

Deafness (ISO)

ectodermal dysplasia (ISO)

Experimental Diabetes Mellitus (ISO)

Experimental Liver Neoplasms (ISO)

extrahepatic cholestasis (ISO)

genetic disease (ISO)

Hearing Loss (ISO)

Hearing Loss, Noise-Induced (ISO)

hepatocellular carcinoma (ISO)

HID Syndrome (ISO)

hidradenitis suppurativa (ISO)

ichthyosis (ISO)

ichthyosis follicularis-alopecia-photophobia syndrome 1 (ISO)

ischemia (ISO)

keratitis (ISO)

Keratitis-Ichthyosis-Deafness Syndrome (ISO)

lung adenocarcinoma (ISO)

newborn respiratory distress syndrome (ISO)

nonsyndromic deafness (ISO)

Nonsyndromic Sensorineural Hearing Loss (ISO)

Noonan syndrome 1 (ISO)

palmoplantar keratoderma-deafness syndrome (ISO)

palmoplantar keratosis (ISO)

Premature Obstetric Labor (ISO)

psoriasis (ISO)

Pulmonary Arterial Hypertension (ISO)

Rubinstein-Taybi syndrome (ISO)

sensorineural hearing loss (ISO)

Skin Neoplasms (ISO)

urethral obstruction (ISO)

Vohwinkel syndrome (ISO)

X-linked deafness 2 (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

cell communication (IEA)

cell communication by electrical coupling (IEA)

cell-cell signaling (IEA)

cellular response to dexamethasone stimulus (ISO)

cellular response to glucagon stimulus (ISO)

cellular response to oxidative stress (ISO)

decidualization (ISO)

epididymis development (ISO)

female pregnancy (ISO)

gap junction assembly (IEA)

gap junction-mediated intercellular transport (IEA)

inner ear development (ISO)

response to estradiol (ISO)

response to human chorionic gonadotropin (ISO)

response to ischemia (ISO)

response to lipopolysaccharide (ISO)

response to progesterone (ISO)

response to retinoic acid (ISO)

sensory perception of sound (IEA)

transmembrane transport (IEA)

Cellular Component

anchoring junction (IEA)

astrocyte projection (ISO)

cell body (ISO)

cell junction (ISO)

connexin complex (IEA)

gap junction (IEA,ISO)

lateral plasma membrane (ISO)

membrane (IEA)

perinuclear region of cytoplasm (ISO)

plasma membrane (IEA)

Molecular Function

calcium ion binding (IEA)

gap junction channel activity (IEA,ISO)

gap junction channel activity involved in cell communication by electrical coupling (IEA)

identical protein binding (IEA)

protein binding (ISO)

References

Additional References at PubMed

PMID:22301074	PMID:30032202

Genomics

Comparative Map Data

GJB2
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	3	801,786 - 808,165 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	3	807,379 - 808,059 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666057	43,777,267 - 43,781,704 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

GJB2
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	13	20,187,470 - 20,192,938 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	13	20,187,463 - 20,192,938 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	13	20,761,609 - 20,767,077 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	13	19,659,605 - 19,665,114 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	13	19,659,608 - 19,665,037	NCBI
Celera	13	1,823,407 - 1,828,919 (-)	NCBI		Celera
Cytogenetic Map	13	q12.11	NCBI
HuRef	13	1,567,054 - 1,572,566 (-)	NCBI		HuRef
CHM1_1	13	20,730,111 - 20,735,623 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	13	19,383,900 - 19,389,385 (-)	NCBI		T2T-CHM13v2.0

Gjb2
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	14	57,336,059 - 57,342,159 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	14	57,336,057 - 57,342,159 (-)	Ensembl		GRCm39 Ensembl
GRCm38	14	57,098,602 - 57,104,702 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	14	57,098,600 - 57,104,702 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	14	57,717,439 - 57,723,539 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	14	56,052,728 - 56,058,775 (-)	NCBI		MGSCv36	mm8
Celera	14	54,889,190 - 54,895,282 (-)	NCBI		Celera
Cytogenetic Map	14	C3	NCBI
cM Map	14	30.1	NCBI

Gjb2
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	15	35,375,977 - 35,393,817 (-)	NCBI		GRCr8
mRatBN7.2	15	31,260,390 - 31,278,222 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	15	31,260,357 - 31,278,177 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	15	33,251,720 - 33,257,696 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	15	34,402,373 - 34,408,349 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	15	32,660,503 - 32,666,480 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	15	37,377,313 - 37,394,494 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	15	37,377,316 - 37,383,277 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	15	41,224,497 - 41,236,203 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	15	36,153,526 - 36,159,490 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	15	36,169,226 - 36,175,190 (-)	NCBI
Celera	15	30,972,813 - 30,978,777 (-)	NCBI		Celera
Cytogenetic Map	15	p12	NCBI

Gjb2
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955497	988,422 - 989,099 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955497	987,213 - 989,477 (-)	NCBI	ChiLan1.0	ChiLan1.0

GJB2
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	14	19,817,860 - 19,823,690 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	13	10,930,180 - 10,936,024 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	13	1,514,714 - 1,520,239 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	13	19,829,838 - 19,831,999 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	13	19,831,274 - 19,831,954 (-)	Ensembl	panpan1.1		panPan2

GJB2
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	25	17,952,851 - 17,958,289 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	25	17,952,851 - 17,958,289 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	25	17,983,495 - 17,988,934 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	25	18,090,743 - 18,096,185 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	25	18,090,743 - 18,096,185 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	25	17,957,195 - 17,962,619 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	25	17,968,886 - 17,974,320 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	25	18,025,532 - 18,030,958 (+)	NCBI		UU_Cfam_GSD_1.0

Gjb2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024404945	119,960,764 - 119,982,667 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936720	1,528,249 - 1,528,929 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936720	1,528,205 - 1,530,296 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

GJB2
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	11	775,166 - 775,846 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	11	774,090 - 781,252 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1

Gjb2
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624776	17,518,284 - 17,522,936 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624776	17,517,824 - 17,522,683 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in GJB2
157 total Variants

Expression

RNA-SEQ Expression

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

ectoderm	endocrine system	hemolymphoid system	mesenchyme	mesoderm	nervous system	reproductive system
76	36	19	35	35	60	20

Sequence

Nucleotide Sequences


RefSeq Transcripts	XM_008021671	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_008021672	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_008021673	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	JACDXN010000025	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENSCSAT00000018676 ⟹ ENSCSAP00000018119

Type:

CODING

Position:

Green Monkey Assembly	Chr	Position (strand)	Source
ChlSab1.1 Ensembl	3	807,379 - 808,059 (+)	Ensembl

RefSeq Acc Id:

XM_008021671 ⟹ XP_008019862

Type:

CODING

Position:

Green Monkey Assembly	Chr	Position (strand)	Source
ChlSab1.1	3	803,872 - 808,165 (+)	NCBI
Vero_WHO_p1.0	NW_023666057	43,777,267 - 43,781,704 (-)	NCBI

Sequence:

show sequence

GGGCGGGCGTGGGTTCGTGGACACGGGAAGCTCTGGGGACCCGGAGGCCCGGCGCGCCCCGCCC
GCGGCGCCGCCCCCTCCGTAACTTCCCCAGTCTCCCGGGAAAGAGGCGGGGTGTGGGGTGCGGT
TAAAAGGCGCCGCGGCGGGACAGGTGTTGCGGCCCCGCAGCGCCCGCGCGCTCTTCTCCCAGAC
TCGGAGCCCCTCGGCGGCGCCCGGCCCAGGACCCGCCCAGGAGCGCAGAGACTCCAACGCCGAG
ACCCCCGCCCCGGCCCGCCGCGCGCTGCCTCCCGACGCAGAGCACACCGCCCAGAGTAGAAGAT
GGATTGGGGCGCGCTGCAGAAGATCCTGGGGGGTGTGAACAAATACTCTACCAGCATTGGAAAG
ATATGGCTCACCGTCCTCTTCATTTTTCGCATTATGATCCTCGTTGTGGCTGCAAAGGAGGTGT
GGGGAGATGAGCAGGCCGACTTTATCTGCAACACCCTGCAGCCCGGCTGCAAGAATGTGTGCTA
CGATCACTACTTCCCCATCTCCCACATCCGGCTGTGGGCCCTGCAGCTGATCTTTGTGTCCACG
CCGGCGCTCCTGGTGGCCATGCACGTGGCCTACTGGAGACATGAGAAGAAGAGGAAGTTCGTCA
AGGGGGAGATAAAGAGTGAATTTAAGGACATCGAGGAGATCAAAACCCAGAAGGTCCGCATCGA
AGGCTCCCTGTGGTGGACCTACACAAGCAGCATCTTCTTCCGGGTCGTCTTCGAAGCCGCCTTC
ATGTACGTCTTCTACGTCATGTACGATGGCTTCTCCATGCAGCGGCTGGTGAAGTGCAACGCCT
GGCCTTGTCCCAACACTGTCGACTGCTTTGTGTCGCGGCCCACGGAGAAGACTGTCTTCACGGT
GTTCATGATTGCGGTGTCTGGAATTTGCATCCTGCTGAATGTCACTGAATTGTGTTATTTGCTA
ATTAGATATTGTTCTGGGAAGTCAAAAAAGCCAGTTTAATGCATTTCCCAGTTGTTAGATTAAA
AAATAGACAGCGTGAGAGGGACGAGGCAACCTGTGCTCAGCTGTCAATGCCCAGTCGCCAGCAT
TTCCCAGCACAAAGATT

hide sequence

Protein Sequences


Protein RefSeqs	XP_008019862	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSCSAP00000018119.1

RefSeq Acc Id:	XP_008019862 ⟸ XM_008021671
- UniProtKB:	A0A0D9SB80 (UniProtKB/TrEMBL)

Ensembl Acc Id:

ENSCSAP00000018119 ⟸ ENSCSAT00000018676

Additional Information

External Database Links

Database	Acc Id	Source(s)
Ensembl Genes	ENSCSAG00000018586	Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript	ENSCSAT00000018676.1	UniProtKB/TrEMBL
Gene3D-CATH	1.20.1440.80	UniProtKB/TrEMBL
InterPro	Connexin	UniProtKB/TrEMBL
	Connexin26	UniProtKB/TrEMBL
	Connexin_CCC	UniProtKB/TrEMBL
	Connexin_CS	UniProtKB/TrEMBL
	Connexin_N	UniProtKB/TrEMBL
	Connexin_N_sf	UniProtKB/TrEMBL
KEGG Report	csab:103248967	UniProtKB/TrEMBL
NCBI Gene	GJB2	ENTREZGENE
PANTHER	GAP JUNCTION BETA-2 PROTEIN	UniProtKB/TrEMBL
	PTHR11984	UniProtKB/TrEMBL
Pfam	Connexin	UniProtKB/TrEMBL
PRINTS	CONNEXIN	UniProtKB/TrEMBL
	CONNEXINB2	UniProtKB/TrEMBL
PROSITE	CONNEXINS_1	UniProtKB/TrEMBL
	CONNEXINS_2	UniProtKB/TrEMBL
SMART	CNX	UniProtKB/TrEMBL
	Connexin_CCC	UniProtKB/TrEMBL
UniProt	A0A0D9SB80	ENTREZGENE, UniProtKB/TrEMBL

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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