GJB2 (gap junction protein beta 2) - Rat Genome Database

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Gene: GJB2 (gap junction protein beta 2) Pan paniscus
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Symbol: GJB2
Name: gap junction protein beta 2
RGD ID: 11806688
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
RGD Orthologs
Human
Mouse
Rat
Chinchilla
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: Mhudiblu_PPA_v0 - Bonobo Mhudiblu_PPA_v0 Assembly
Position:
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21419,817,860 - 19,823,690 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11310,930,180 - 10,936,024 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0131,514,714 - 1,520,239 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11319,829,838 - 19,831,999 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1319,831,274 - 19,831,954 (-)Ensemblpanpan1.1panPan2
JBrowse: View Region in Genome Browser (JBrowse)
Model


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)
sensorineural hearing loss  (ISO)
Skin Neoplasms  (ISO)
urethral obstruction  (ISO)
Vohwinkel syndrome  (ISO)
X-linked deafness 2  (ISO)

References
Additional References at PubMed
PMID:22301074   PMID:30032202  


Genomics

Comparative Map Data
GJB2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21419,817,860 - 19,823,690 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11310,930,180 - 10,936,024 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0131,514,714 - 1,520,239 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11319,829,838 - 19,831,999 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1319,831,274 - 19,831,954 (-)Ensemblpanpan1.1panPan2
GJB2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381320,187,470 - 20,192,938 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1320,187,463 - 20,192,938 (-)EnsemblGRCh38hg38GRCh38
GRCh371320,761,609 - 20,767,077 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361319,659,605 - 19,665,114 (-)NCBINCBI36Build 36hg18NCBI36
Build 341319,659,608 - 19,665,037NCBI
Celera131,823,407 - 1,828,919 (-)NCBICelera
Cytogenetic Map13q12.11NCBI
HuRef131,567,054 - 1,572,566 (-)NCBIHuRef
CHM1_11320,730,111 - 20,735,623 (-)NCBICHM1_1
T2T-CHM13v2.01319,383,900 - 19,389,385 (-)NCBIT2T-CHM13v2.0
Gjb2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391457,336,059 - 57,342,159 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1457,336,057 - 57,342,159 (-)EnsemblGRCm39 Ensembl
GRCm381457,098,602 - 57,104,702 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1457,098,600 - 57,104,702 (-)EnsemblGRCm38mm10GRCm38
MGSCv371457,717,439 - 57,723,539 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361456,052,728 - 56,058,775 (-)NCBIMGSCv36mm8
Celera1454,889,190 - 54,895,282 (-)NCBICelera
Cytogenetic Map14C3NCBI
cM Map1430.1NCBI
Gjb2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81535,375,977 - 35,393,817 (-)NCBIGRCr8
mRatBN7.21531,260,390 - 31,278,222 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1531,260,357 - 31,278,177 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1533,251,720 - 33,257,696 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01534,402,373 - 34,408,349 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01532,660,503 - 32,666,480 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01537,377,313 - 37,394,494 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1537,377,316 - 37,383,277 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01541,224,497 - 41,236,203 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41536,153,526 - 36,159,490 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11536,169,226 - 36,175,190 (-)NCBI
Celera1530,972,813 - 30,978,777 (-)NCBICelera
Cytogenetic Map15p12NCBI
Gjb2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955497988,422 - 989,099 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955497987,213 - 989,477 (-)NCBIChiLan1.0ChiLan1.0
GJB2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12517,952,851 - 17,958,289 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2517,952,851 - 17,958,289 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2517,983,495 - 17,988,934 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02518,090,743 - 18,096,185 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2518,090,743 - 18,096,185 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12517,957,195 - 17,962,619 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02517,968,886 - 17,974,320 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02518,025,532 - 18,030,958 (+)NCBIUU_Cfam_GSD_1.0
Gjb2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404945119,960,764 - 119,982,667 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049367201,528,249 - 1,528,929 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049367201,528,205 - 1,530,296 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GJB2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl11775,166 - 775,846 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.111774,090 - 781,252 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
GJB2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.13801,786 - 808,165 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl3807,379 - 808,059 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605743,777,267 - 43,781,704 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Gjb2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462477617,518,284 - 17,522,936 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462477617,517,824 - 17,522,683 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2


Expression

RNA-SEQ Expression


Sequence

Nucleotide Sequences
RefSeq Transcripts XM_003833007 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide JARIFH020000014 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENSPPAT00000021512   ⟹   ENSPPAP00000004697
Type: CODING
Position:
Bonobo AssemblyChrPosition (strand)Source
PanPan1.1 Ensembl1319,831,274 - 19,831,954 (-)Ensembl
RefSeq Acc Id: XM_003833007   ⟹   XP_003833055
Type: CODING
Position:
Bonobo AssemblyChrPosition (strand)Source
NHGRI_mPanPan1-v21419,817,860 - 19,823,690 (-)NCBI
NHGRI_mPanPan11310,930,180 - 10,936,024 (-)NCBI
Mhudiblu_PPA_v0131,514,714 - 1,520,239 (-)NCBI
PanPan1.11319,829,838 - 19,831,999 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs XP_003833055 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSPPAP00000004697
  ENSPPAP00000004697.1
RefSeq Acc Id: XP_003833055   ⟸   XM_003833007
- UniProtKB: A0A2R8ZIA2 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSPPAP00000004697   ⟸   ENSPPAT00000021512

Additional Information

Database Acc Id Source(s)
Ensembl Genes ENSPPAG00000019636 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENSPPAT00000021512.1 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 pps:100970213 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 A0A2R8ZIA2 ENTREZGENE, UniProtKB/TrEMBL