GJB2 (gap junction protein beta 2)

	Submit Data \| Help \| Video Tutorials \| News \| Publications \| Download \| REST API \| Citing RGD \| Contact
	Search RGD Grant Resources Citing RGD About Us Contact Us Genes QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data OntoMate (Literature Search) JBrowse (Genome Browser) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) RatMine GViewer (Genome Viewer) Overgo Probe Designer ACP Haplotyper Genome Scanner Aging & Age-Related Disease Cancer Cardiovascular Disease COVID-19 Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease Find Models new Genetic Models Autism Models PhenoMiner (Quantitative Phenotypes) Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes GERRC (Gene Editing Rat Resource Center) Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive Pathways Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Poster Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
	Advanced Search (OLGA)

Gene: GJB2 (gap junction protein beta 2) Pan paniscus

Analyze

Symbol:

GJB2

Name:

gap junction protein beta 2

RGD ID:

11806688

Description:

ENCODES a protein that exhibits calcium ion binding (ortholog); gap junction channel activity (ortholog); gap junction channel activity involved in cell communication by electrical coupling (ortholog); INVOLVED IN aging (ortholog); cell-cell signaling (ortholog); cellular response to dexamethasone stimulus (ortholog); ASSOCIATED WITH autoimmune thyroiditis (ortholog); autosomal dominant keratitis-ichthyosis-deafness syndrome (ortholog); autosomal dominant nonsyndromic deafness 3A (ortholog); FOUND IN astrocyte projection (ortholog); cell body (ortholog); cell junction (ortholog)

Type:

protein-coding

RefSeq Status:

MODEL

RGD Orthologs

Human

Mouse

Rat

Chinchilla

Dog

Squirrel

Pig

Green Monkey

Naked Mole-Rat

Alliance Genes

More Info

more info ...

Latest Assembly:

Mhudiblu_PPA_v0 - Bonobo Mhudiblu_PPA_v0 Assembly

Position:

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
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
Mhudiblu_PPA_v0	13	1,514,714 - 1,520,239 (-)	NCBI	Mhudiblu_PPA_v0		panPan3

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

autoimmune thyroiditis (ISO)

autosomal dominant keratitis-ichthyosis-deafness syndrome (ISO)

autosomal dominant nonsyndromic deafness 3A (ISO)

autosomal recessive nonsyndromic deafness (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)

Deafness (ISO)

Experimental Diabetes Mellitus (ISO)

Experimental Liver Neoplasms (ISO)

extrahepatic cholestasis (ISO)

Fused Kidney (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)

nonsyndromic deafness (ISO)

Nonsyndromic Sensorineural Hearing Loss (ISO)

Noonan syndrome 1 (ISO)

omphalocele (ISO)

palmoplantar keratoderma-deafness syndrome (ISO)

palmoplantar keratosis (ISO)

Premature Obstetric Labor (ISO)

psoriasis (ISO)

Pulmonary Arterial Hypertension (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

aging (ISO)

cell-cell signaling (ISO)

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 (ISO)

gap junction-mediated intercellular transport (ISO)

inner ear development (ISO)

response to antibiotic (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)

transmembrane transport (ISO)

Cellular Component

astrocyte projection (ISO)

cell body (ISO)

cell junction (ISO)

connexin complex (ISO)

cytoplasm (ISO)

cytosol (ISO)

gap junction (ISO)

integral component of plasma membrane (ISO)

lateral plasma membrane (ISO)

perinuclear region of cytoplasm (ISO)

plasma membrane (ISO)

Molecular Function

calcium ion binding (ISO)

gap junction channel activity (ISO)

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

identical protein binding (ISO)

protein binding (ISO)

References

Genomics

Comparative Map Data

GJB2
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
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
Mhudiblu_PPA_v0	13	1,514,714 - 1,520,239 (-)	NCBI	Mhudiblu_PPA_v0		panPan3

GJB2
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38.p13 Ensembl	13	20,187,463 - 20,192,938 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh38	13	20,187,470 - 20,192,938 (-)	NCBI	GRCh38	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		hg18	NCBI36
Build 34	13	19,659,608 - 19,665,037	NCBI
Celera	13	1,823,407 - 1,828,919 (-)	NCBI
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

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		mm39
GRCm39 Ensembl	14	57,336,057 - 57,342,159 (-)	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		mm9	NCBIm37
MGSCv36	14	56,052,728 - 56,058,775 (-)	NCBI			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
mRatBN7.2	15	31,260,390 - 31,278,222 (-)	NCBI
Rnor_6.0 Ensembl	15	37,377,316 - 37,383,277 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_6.0	15	37,377,313 - 37,394,494 (-)	NCBI	Rnor6.0	Rnor_6.0	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		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
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1 Ensembl	25	17,952,851 - 17,958,289 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
CanFam3.1	25	17,952,851 - 17,958,289 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1

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
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	11	774,090 - 781,252 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1

GJB2
(Chlorocebus sabaeus - African green monkey)

Vervet Assembly	Chr	Position (strand)	Source	Genome Browsers
Vervet Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	3	801,786 - 808,165 (+)	NCBI
ChlSab1.1 Ensembl	3	807,379 - 808,059 (+)	Ensembl

Gjb2
(Heterocephalus glaber - naked mole-rat)

Molerat Assembly	Chr	Position (strand)	Source	Genome Browsers
Molerat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla 1.0	NW_004624776	17,517,824 - 17,522,683 (+)	NCBI

Expression

Sequence

Nucleotide Sequences


RefSeq Transcripts	XM_003833007	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	SSBP01000085	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Reference Sequences

RefSeq Acc Id:

ENSPPAT00000021512 ⟹ ENSPPAP00000004697

RefSeq Status:

Type:

CODING

Position:

Bonobo Assembly	Chr	Position (strand)	Source
PanPan1.1 Ensembl	13	19,831,274 - 19,831,954 (-)	Ensembl

RefSeq Acc Id:

XM_003833007 ⟹ XP_003833055

RefSeq Status:

Type:

CODING

Position:

Bonobo Assembly	Chr	Position (strand)	Source
PanPan1.1	13	19,829,838 - 19,831,999 (-)	NCBI
Mhudiblu_PPA_v0	13	1,514,714 - 1,520,239 (-)	NCBI

Sequence:

show sequence

TTGTGTGCATTCGTCTTTTCCAGAGCAAACCGCCCAGAGTAGAAGATGGATTGGGGCACGCTGC
AGACGATCCTGGGGGGTGTGAACAAACACTCCACCAGCATTGGAAAGATCTGGCTCACCGTCCT
CTTCATTTTTCGCATTATGATCCTCGTTGTGGCTGCGAAGGAGGTGTGGGGAGATGAGCAGGCC
GACTTTGTCTGCAACACCCTGCAGCCAGGCTGCAAGAATGTGTGCTACGATCACTACTTCCCCA
TCTCCCACATCCGGCTATGGGCCCTGCAGCTGATCTTCGTGTCCACGCCAGCGCTCCTAGTGGC
CATGCACGTGGCCTACCGGAGACATGAGAAGAAGAGGAAGTTCATCAAGGGGGAGATAAAGAGT
GAATTTAAGGACATCGAGGAGATCAAAACCCAGAAGGTCCGCATCGAAGGCTCCCTGTGGTGGA
CCTACACAAGCAGCATCTTCTTCCGGGTCATCTTCGAAGCCGCCTTCATGTACGTCTTCTATGT
CATGTACGACGGCTTCTCCATGCAGCGGCTGGTGAAGTGCAATGCCTGGCCTTGTCCCAACACT
GTGGACTGCTTTGTGTCCCGGCCCACGGAGAAGACTGTCTTCACAGTGTTCATGATTGCAGTGT
CTGGAATTTGCATCCTGCTGAATGTCACTGAATTATGTTATTTGCTAATTAGATATTGTTCTGG
GAAGTCAAAAAAGCCAGTTTAACGCATTGCCCAGTTGTTAGATTAAGAAATAGACAGCATGAGA
GGGATGAGGCAACCCGTGCTCAGCTGTCAAGGCTCAGTCGCCAGCATTTCCCAACACAAAGATT
CTGATCTTAAATGCAACCATTTGAAACCCCTGTAGGCCTCAGGTGAAACTCCGGATGCCACAAT
GGAGCTCTGCTCCCCTAAAGCCTCAAAACAAAGGCCTAATTCTATGCCTGTCTTAATTTTCTTT
CACTTAAGTTAGTTCCACTGAGACCCCGGGCTGTTAGGGGTTATTGGTGTAAGGTACTTTCATA
TTTTAAACAGAGGATATCGGCATTTGTTTCTTTCTCTGAGGACAAGAGAAAAAGGCCAGGTTCC
ACAGAGGACACAGAGAAGGTTTGGGTGTCCTCCTGGGGTTCTTTTTGCCAACTTTCCCCACGTT
AAAGGTGAACATTGGTTCTTTCATTTGCTTTGGAAGTTTTAATCTCTAACAGTGGACAAAGTTA
CCAGTGCCTTAAACTCTGTTACACTTTTTGTAAGTGAAAACTTTGTAGTATGATAGGTTATTTT
GATGTAAAGATGTTCTGGATGCCATTATATGTTCCCCCTGTTTCAGAGGCTCAGATTGTGATAT
GTAAATGGTATGTCATTCGCTACTATGATTTCATTTGAAATATGGTCTTTTGATTATGAATACT
TTGCAGCACAGCTGAGAGGCTGTCTGTTGTATTCATTGTGGTCATAGCACCTAACAACGTTGTA
GCCTCAATCGAGTGAGACAGACTAGAAGTTCCTCGTGATGGCTTATGATAGCAAATGGCCTCAT
GTCAAATATTTAGATGTAATTTTGTGTAAGAAATACAGACTGGATGTACCACCAACTACTACCT
GTAATGACAGGCCTGTCCAACACATCTCCCTTTTCCATGACTGTGGTAGCCAGCATCGGAAAGA
ACGCTGATTTAAAGAGGTCGCTTGGGAATTTTATTGACACGGTACCATTTAATGGGGAGGACAA
AATGGGGCAGGGGAGGGAGAAGTTTCTGTCGTTAGAAACAGATTTGGAAAGACTGGACTCTAAA
TTCTGTTGATTAAAGATGAGCTTTGTCTACTTCAAAAGTTTGTTTGCTTACCCCTTCAGCCTCC
AATTTTTTAAGTGAAAATATAACTAATAACGTGAAAAGAATAGAAGCTAAGGTTTAGGTAAATA
TTGAGCAGATCTATAGGAAGATTGAACCTGAATATTGCCATTATGCTTGACATGGTTTCCAAAA
AATGGTACTCCACATACTTCAGTGAGGGTAAGTATTTTCCTGTTGTCAAGAATAGCATTGTAAA
AGCATTTTGTAATAATAAAGGATAGCTTTAATGATATGCTTGTAACTAAAATAATTTTGTAATG
TATCAAATACATTTAAAACATTAAAATATAATCTCTATAATAATTTAAAA

hide sequence

Protein Sequences


Protein RefSeqs	XP_003833055	(Get FASTA)	NCBI Sequence Viewer

Reference Sequences

RefSeq Acc Id:

XP_003833055 ⟸ XM_003833007

- Sequence:

show sequence

MDWGTLQTILGGVNKHSTSIGKIWLTVLFIFRIMILVVAAKEVWGDEQADFVCNTLQPGCKNVC
YDHYFPISHIRLWALQLIFVSTPALLVAMHVAYRRHEKKRKFIKGEIKSEFKDIEEIKTQKVRI
EGSLWWTYTSSIFFRVIFEAAFMYVFYVMYDGFSMQRLVKCNAWPCPNTVDCFVSRPTEKTVFT
VFMIAVSGICILLNVTELCYLLIRYCSGKSKKPV

hide sequence

RefSeq Acc Id:

ENSPPAP00000004697 ⟸ ENSPPAT00000021512

Protein Domains

CNX Connexin_CCC

Additional Information

External Database Links

Database	Acc Id	Source(s)
Ensembl Genes	ENSPPAG00000019636	Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Protein	ENSPPAP00000004697	ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript	ENSPPAT00000021512	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	pps:100970213	UniProtKB/TrEMBL
NCBI Gene	GJB2	ENTREZGENE
PANTHER	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	A0A2R8ZIA2_PANPA	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)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM