Gjb3 (gap junction protein, beta 3) - Rat Genome Database

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Gene: Gjb3 (gap junction protein, beta 3) Rattus norvegicus
Analyze
Symbol: Gjb3
Name: gap junction protein, beta 3
RGD ID: 2695
Description: Predicted to enable gap junction channel activity. Involved in several processes, including cellular response to retinoic acid; in utero embryonic development; and spermatogenesis. Located in gap junction. Human ortholog(s) of this gene implicated in autosomal dominant nonsyndromic deafness 2B; autosomal recessive nonsyndromic deafness 1A; colorectal adenocarcinoma; erythrokeratodermia variabilis; and erythrokeratodermia variabilis et progressiva 1. Orthologous to human GJB3 (gap junction protein beta 3); INTERACTS WITH alpha-Zearalanol; ammonium chloride; benzo[a]pyrene.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: connexin c; connexin-31; cx31; Cxnc; gap junction beta-3 protein; gap junction membrane channel protein beta 3
RGD Orthologs
Human
Mouse
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Black Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: GRCr8 - GRCr8 Assembly
Position:
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr85144,933,692 - 144,939,435 (-)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl5144,933,696 - 144,940,280 (-)EnsemblGRCr8
mRatBN7.25139,649,227 - 139,654,970 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl5139,649,195 - 139,654,980 (-)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx5142,344,777 - 142,345,589 (-)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.05144,114,766 - 144,115,578 (-)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.05144,115,567 - 144,116,379 (-)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.05145,390,590 - 145,397,271 (-)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5145,391,311 - 145,392,123 (-)Ensemblrn6Rnor6.0
Rnor_5.05149,158,599 - 149,164,702 (-)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.45146,771,804 - 146,772,616 (-)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera5138,143,911 - 138,144,723 (-)NCBICelera
RGSC_v3.15146,781,842 - 146,782,655 (-)NCBI
Cytogenetic Map5q36NCBI
JBrowse:




Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Molecular profiling and cellular localization of connexin isoforms in the rat ciliary epithelium. Coffey KL, etal., Exp Eye Res. 2002 Jul;75(1):9-21.
2. Clinical and genetic heterogeneity of erythrokeratoderma variabilis. Common JE, etal., J Invest Dermatol. 2005 Nov;125(5):920-7.
3. Lack of association between Connexin 31 (GJB3) alterations and sensorineural deafness in Austria. Frei K, etal., Hear Res. 2004 Aug;194(1-2):81-6.
4. Erythrokeratoderma variabilis caused by a recessive mutation in GJB3. Fuchs-Telem D, etal., Clin Exp Dermatol. 2011 Jun;36(4):406-11. doi: 10.1111/j.1365-2230.2010.03986.x.
5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27.
6. Rat ISS GO annotations from GOA human gene data--August 2006 GOA data from the GO Consortium
7. Expression of gap junction proteins Cx26, Cx31.1, Cx37, and Cx43 in developing and mature rat epidermis. Goliger JA and Paul DL, Dev Dyn. 1994 May;200(1):1-13.
8. A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 protein. Gottfried I, etal., Hum Mol Genet. 2002 May 15;11(11):1311-6.
9. Regulation of connexin31 gene expression upon retinoic acid treatment in rat choriocarcinoma cells. Grümmer R, etal., Exp Cell Res. 1996 Aug 25;227(1):23-32.
10. Molecular cloning and characterization of a new member of the gap junction gene family, connexin-31. Hoh JH, etal., J Biol Chem 1991 Apr 5;266(10):6524-31.
11. Impact of Genetic Variation in MicroRNA-binding Site on Susceptibility to Colorectal Cancer. Kang BW, etal., Anticancer Res. 2016 Jul;36(7):3353-61.
12. Digenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31. Liu XZ, etal., Hum Genet. 2009 Feb;125(1):53-62. doi: 10.1007/s00439-008-0602-9. Epub 2008 Dec 3.
13. Rat ISS GO annotations from MGI mouse gene data--August 2006 MGD data from the GO Consortium
14. Differential expression of gap-junction gene connexin 31 in seminiferous epithelium of rat testes. Mok BW, etal., FEBS Lett. 1999 Jun 25;453(3):243-8.
15. A new, recurrent mutation of GJB3 (Cx31) in erythrokeratodermia variabilis. Morley SM, etal., Br J Dermatol. 2005 Jun;152(6):1143-8.
16. Electronic Transfer of LocusLink and RefSeq Data NCBI rat LocusLink and RefSeq merged data July 26, 2002
17. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
18. Connexin31-deficiency in mice causes transient placental dysmorphogenesis but does not impair hearing and skin differentiation. Plum A, etal., Dev Biol. 2001 Mar 15;231(2):334-47.
19. Expression of connexin31 and connexin43 genes in early rat embryos. Reuss B, etal., Dev Genet. 1997;21(1):82-90.
20. GOA pipeline RGD automated data pipeline
21. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
22. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
23. Comprehensive gene review and curation RGD comprehensive gene curation
24. The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3. Richard G, etal., Hum Genet. 2000 Mar;106(3):321-9.
25. Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis. Richard G, etal., Nat Genet. 1998 Dec;20(4):366-9.
26. Distribution of ORM1, C6, C7 and APO C-II allele frequencies in populations from mainland Italy and Sardinia. Scacchi R, etal., Hum Hered 1992;42(5):309-15.
27. Novel and recurrent connexin 30.3 and connexin 31 mutations associated with erythrokeratoderma variabilis. Scott CA, etal., Clin Exp Dermatol. 2011 Jan;36(1):88-90.
28. The novel GJB3 mutation p.Thr202Asn in the M4 transmembrane domain underlies erythrokeratodermia variabilis. Sugiura K, etal., Br J Dermatol. 2015 Jul;173(1):309-11. doi: 10.1111/bjd.13641. Epub 2015 May 28.
29. A missense mutation in the GJB3 gene responsible for erythrokeratodermia variabilis in a Chinese family. Wang W, etal., Clin Exp Dermatol. 2012 Dec;37(8):919-21. doi: 10.1111/j.1365-2230.2012.04406.x. Epub 2012 Jun 8.
30. Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilis. Wilgoss A, etal., J Invest Dermatol. 1999 Dec;113(6):1119-22.
31. Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment. Xia JH, etal., Nat Genet 1998 Dec;20(4):370-3.
Additional References at PubMed
PMID:1300214   PMID:7889986   PMID:14595769   PMID:15895417   PMID:32157145  


Genomics

Comparative Map Data
Gjb3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr85144,933,692 - 144,939,435 (-)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl5144,933,696 - 144,940,280 (-)EnsemblGRCr8
mRatBN7.25139,649,227 - 139,654,970 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl5139,649,195 - 139,654,980 (-)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx5142,344,777 - 142,345,589 (-)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.05144,114,766 - 144,115,578 (-)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.05144,115,567 - 144,116,379 (-)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.05145,390,590 - 145,397,271 (-)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5145,391,311 - 145,392,123 (-)Ensemblrn6Rnor6.0
Rnor_5.05149,158,599 - 149,164,702 (-)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.45146,771,804 - 146,772,616 (-)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera5138,143,911 - 138,144,723 (-)NCBICelera
RGSC_v3.15146,781,842 - 146,782,655 (-)NCBI
Cytogenetic Map5q36NCBI
GJB3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38134,781,214 - 34,786,364 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl134,781,214 - 34,786,369 (+)Ensemblhg38GRCh38
GRCh37135,246,815 - 35,251,965 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36135,019,377 - 35,024,554 (+)NCBIBuild 36Build 36hg18NCBI36
Build 34134,915,882 - 34,921,057NCBI
Celera133,520,514 - 33,525,691 (+)NCBICelera
Cytogenetic Map1p34.3NCBI
HuRef133,364,392 - 33,369,569 (+)NCBIHuRef
CHM1_1135,362,359 - 35,367,536 (+)NCBICHM1_1
T2T-CHM13v2.0134,643,843 - 34,648,993 (+)NCBIT2T-CHM13v2.0
Gjb3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394127,219,028 - 127,224,633 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl4127,219,028 - 127,224,637 (-)EnsemblGRCm39 EnsemblGRCm39
GRCm384127,325,235 - 127,330,836 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4127,325,235 - 127,330,844 (-)Ensemblmm10GRCm38
MGSCv374127,002,479 - 127,008,080 (-)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv364126,827,539 - 126,831,465 (-)NCBIMGSCv36mm8
Celera4125,659,630 - 125,665,228 (-)NCBICelera
Cytogenetic Map4D2.2NCBI
cM Map461.48NCBI
Gjb3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545212,892,687 - 12,896,290 (+)Ensembl
ChiLan1.0NW_00495545212,892,687 - 12,896,290 (+)NCBIChiLan1.0ChiLan1.0
GJB3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21192,059,544 - 192,064,679 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11191,180,713 - 191,185,856 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0134,048,136 - 34,053,298 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1135,229,660 - 35,234,821 (+)NCBIPanPan1.1PanPan1.1panPan2
GJB3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1157,175,010 - 7,177,145 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha157,413,106 - 7,418,450 (-)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.0157,319,962 - 7,325,307 (-)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl157,320,683 - 7,321,495 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1157,182,367 - 7,187,711 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0157,230,346 - 7,235,691 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0157,244,564 - 7,249,909 (-)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Gjb3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505851,602,426 - 51,606,586 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647417,429,926 - 17,430,729 (+)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_00493647417,427,255 - 17,431,368 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GJB3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl691,031,849 - 91,037,542 (+)EnsemblsusScr11Sscrofa11.1
Sscrofa11.1691,031,378 - 91,037,548 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
GJB3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12098,100,285 - 98,106,517 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2098,102,413 - 98,103,225 (-)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Vero_WHO_p1.0NW_02366603318,734,683 - 18,739,822 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Gjb3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476417,829,467 - 17,833,465 (+)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_00462476417,829,214 - 17,833,509 (+)NCBIHetGla 1.0HetGla 1.0hetGla2
Gjb3
(Rattus rattus - black rat)
Black Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rrattus_CSIRO_v1130,951,930 - 30,957,921 (+)NCBIRrattus_CSIRO_v1

Variants

.
Variants in Gjb3
13 total Variants
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:122
Count of miRNA genes:102
Interacting mature miRNAs:113
Transcripts:ENSRNOT00000019266
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCr8)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1331796Thshl2Thyroid stimulating hormone level QTL 22.3blood thyroid-stimulating hormone amount (VT:0005119)serum thyroid stimulating hormone level (CMO:0001248)5102105698152749382Rat
2303586Gluco52Glucose level QTL 522blood glucose amount (VT:0000188)blood glucose level (CMO:0000046)5100826632145826632Rat
10053720Scort26Serum corticosterone level QTL 262.060.0147blood corticosterone amount (VT:0005345)plasma corticosterone level (CMO:0001173)5130249266172190305Rat
1549845Scl44Serum cholesterol level QTL 446blood cholesterol amount (VT:0000180)serum total cholesterol level (CMO:0000363)544924861153890773Rat
8552960Pigfal15Plasma insulin-like growth factor 1 level QTL 15blood insulin-like growth factor amount (VT:0010479)plasma insulin-like growth factor 1 level (CMO:0001299)5116702075161702075Rat
1354583Despr3Despair related QTL34.980.0002locomotor behavior trait (VT:0001392)amount of time spent in voluntary immobility (CMO:0001043)5132930505172190305Rat
61444Strs2Sensitivity to stroke QTL 24.7cerebrum integrity trait (VT:0010549)post-insult time to onset of cerebrovascular lesion (CMO:0002343)5141212838172190305Rat
1300122Wbc1White blood cell count QTL 12.75leukocyte quantity (VT:0000217)total white blood cell count (CMO:0000365)5130678987145274255Rat
61452Ciaa5CIA Autoantibody QTL 53.5blood autoantibody amount (VT:0003725)calculated serum anti-rat type 2 collagen autoantibody titer (CMO:0001281)599905133172190305Rat
70156Niddm30Non-insulin dependent diabetes mellitus QTL 303.98blood glucose amount (VT:0000188)blood glucose level area under curve (AUC) (CMO:0000350)5134369218156289444Rat
8552908Pigfal4Plasma insulin-like growth factor 1 level QTL 46.6blood insulin-like growth factor amount (VT:0010479)plasma insulin-like growth factor 1 level (CMO:0001299)5133789363172190305Rat
1331803Rf32Renal function QTL 322.798kidney blood vessel physiology trait (VT:0100012)absolute change in renal vascular resistance (CMO:0001900)5134369199172190305Rat
61393Bp7Blood pressure QTL 74.50.0001arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)565089051166764498Rat
7794791Mcs33Mammary carcinoma susceptibility QTL 331.93mammary gland integrity trait (VT:0010552)mammary tumor incidence/prevalence measurement (CMO:0000946)5136631198172190305Rat
7207486Bss109Bone structure and strength QTL 109femur strength trait (VT:0010010)femur total energy absorbed before break (CMO:0001677)5112142946157142946Rat
7207481Bss106Bone structure and strength QTL 1067.9femur strength trait (VT:0010010)femur ultimate force (CMO:0001675)5112142946157142946Rat
1302790Scl20Serum cholesterol level QTL 206.40.0001blood cholesterol amount (VT:0000180)plasma total cholesterol level (CMO:0000585)5110770739155770739Rat
1598861Cm64Cardiac mass QTL 642.9heart mass (VT:0007028)heart weight to body weight ratio (CMO:0000074)5133081618172190305Rat
1578766Tcas11Tongue tumor susceptibility QTL 114.12tongue integrity trait (VT:0010553)number of squamous cell tumors of the tongue with diameter greater than 3 mm (CMO:0001950)551657967166600247Rat
631505Bp103Blood pressure QTL 1033.2arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)5138002522170842766Rat
1581505Rf54Renal function QTL 54kidney physiology trait (VT:0002136)kidney 20-HETE level (CMO:0001854)5133270647172190305Rat
1549838Bss4Bone structure and strength QTL 49.2femur strength trait (VT:0010010)femur midshaft polar moment of inertia (CMO:0001669)5112142946157142946Rat
2317753Glom24Glomerulus QTL 243.1kidney glomerulus integrity trait (VT:0010546)kidney sclerotic glomeruli count to total glomeruli count ratio (CMO:0001269)5141764300172190305Rat
8694169Bw148Body weight QTL 14850.001body mass (VT:0001259)body weight gain (CMO:0000420)5133789363172190305Rat
1581510Cm54Cardiac mass QTL 543.40.05heart left ventricle mass (VT:0007031)heart left ventricle weight to body weight ratio (CMO:0000530)5125969677172190305Rat
1576312Emca8Estrogen-induced mammary cancer QTL 84.1mammary gland integrity trait (VT:0010552)mammary tumor number (CMO:0000343)555124766172190305Rat
2303618Vencon1Ventilatory control QTL 13.8respiration trait (VT:0001943)oxygen consumption (CMO:0002169)5100826632145826632Rat
2317056Wbc3White blood cell count QTL 32.510.01leukocyte quantity (VT:0000217)white blood cell count (CMO:0000027)5111236572156236572Rat
724525Bp147Blood pressure QTL 1474.30.0001arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)5131708216172190305Rat
1598847Cm62Cardiac mass QTL 623.4heart mass (VT:0007028)heart weight to body weight ratio (CMO:0000074)5114131300159131300Rat
2293642Bss37Bone structure and strength QTL 374.640.0001femur strength trait (VT:0010010)femur ultimate force (CMO:0001675)5125969677156302135Rat
8694441Bw169Body weight QTL 16917.610.001retroperitoneal fat pad mass (VT:0010430)retroperitoneal fat pad weight to body weight ratio (CMO:0000635)5116702075161702075Rat
7207488Bss110Bone structure and strength QTL 18.4femur strength trait (VT:0010010)femur stiffness (CMO:0001674)5112142946157142946Rat
7207491Bss112Bone structure and strength QTL 1127femur morphology trait (VT:0000559)femur midshaft cortical cross-sectional area (CMO:0001663)5112142946157142946Rat
8694389Bw160Body weight QTL 1606.170.001body lean mass (VT:0010483)lean tissue morphological measurement (CMO:0002184)5116702075161702075Rat
1354598Srn6Serum renin concentration QTL 63.8blood renin amount (VT:0003349)plasma renin activity level (CMO:0000116)574335621156302135Rat
8694198Abfw3Abdominal fat weight QTL 316.130.001visceral adipose mass (VT:0010063)abdominal fat pad weight to body weight ratio (CMO:0000095)5116702075161702075Rat
1298089Scl14Serum cholesterol level QTL 145.80.0004blood cholesterol amount (VT:0000180)plasma total cholesterol level (CMO:0000585)5114131300159131300Rat
1598819Bp292Blood pressure QTL 2924.3arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)5133081618172190305Rat
1358187Emca1Estrogen-induced mammary cancer QTL 14.4mammary gland integrity trait (VT:0010552)post-insult time to mammary tumor formation (CMO:0000345)5104262817153890625Rat

Markers in Region
UniSTS:472855  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.25139,650,209 - 139,650,761 (+)MAPPERmRatBN7.2
Rnor_6.05145,391,573 - 145,392,124NCBIRnor6.0
Rnor_5.05149,159,582 - 149,160,133UniSTSRnor5.0
RGSC_v3.45146,772,066 - 146,772,617UniSTSRGSC3.4
Celera5138,144,173 - 138,144,724UniSTS
Cytogenetic Map5q36UniSTS


Expression

RNA-SEQ Expression

alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
16 3 53 102 66 71 41 18 41 6 226 90 9 80 76 92 30 7 7

Sequence


Ensembl Acc Id: ENSRNOT00000019266   ⟹   ENSRNOP00000019266
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8 Ensembl5144,933,989 - 144,935,259 (-)Ensembl
mRatBN7.2 Ensembl5139,649,195 - 139,653,443 (-)Ensembl
Rnor_6.0 Ensembl5145,391,311 - 145,392,123 (-)Ensembl
Ensembl Acc Id: ENSRNOT00000111000   ⟹   ENSRNOP00000084913
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8 Ensembl5144,933,729 - 144,940,280 (-)Ensembl
mRatBN7.2 Ensembl5139,649,195 - 139,654,980 (-)Ensembl
Ensembl Acc Id: ENSRNOT00000172004   ⟹   ENSRNOP00000098696
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8 Ensembl5144,933,696 - 144,940,280 (-)Ensembl
RefSeq Acc Id: NM_001411660   ⟹   NP_001398589
RefSeq Status: VALIDATED
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr85144,933,692 - 144,937,766 (-)NCBI
mRatBN7.25139,649,227 - 139,653,301 (-)NCBI
RefSeq Acc Id: NM_019240   ⟹   NP_062113
RefSeq Status: VALIDATED
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr85144,933,692 - 144,939,435 (-)NCBI
mRatBN7.25139,649,227 - 139,654,970 (-)NCBI
Rnor_6.05145,391,311 - 145,392,123 (-)NCBI
Rnor_5.05149,158,599 - 149,164,702 (-)NCBI
RGSC_v3.45146,771,804 - 146,772,616 (-)RGD
Celera5138,143,911 - 138,144,723 (-)RGD
Sequence:
RefSeq Acc Id: NP_062113   ⟸   NM_019240
- UniProtKB: P25305 (UniProtKB/Swiss-Prot),   A0A654ICZ5 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSRNOP00000019266   ⟸   ENSRNOT00000019266
Ensembl Acc Id: ENSRNOP00000084913   ⟸   ENSRNOT00000111000
RefSeq Acc Id: NP_001398589   ⟸   NM_001411660
- UniProtKB: P25305 (UniProtKB/Swiss-Prot),   A0A654ICZ5 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSRNOP00000098696   ⟸   ENSRNOT00000172004
Protein Domains
Connexin N-terminal   Gap junction protein cysteine-rich

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P25305-F1-model_v2 AlphaFold P25305 1-270 view protein structure

Transcriptome

eQTL   View at Phenogen
WGCNA   View at Phenogen
Tissue/Strain Expression   View at Phenogen


Additional Information

Database Acc Id Source(s)
AGR Gene RGD:2695 AgrOrtholog
BioCyc Gene G2FUF-39852 BioCyc
Ensembl Genes ENSRNOG00000014372 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENSRNOT00000019266 ENTREZGENE
  ENSRNOT00000019266.3 UniProtKB/Swiss-Prot
  ENSRNOT00000111000.1 UniProtKB/Swiss-Prot
  ENSRNOT00000172004 ENTREZGENE
Gene3D-CATH 1.20.1440.80 UniProtKB/Swiss-Prot
InterPro Connexin UniProtKB/Swiss-Prot
  Connexin31 UniProtKB/Swiss-Prot
  Connexin_CCC UniProtKB/Swiss-Prot
  Connexin_CS UniProtKB/Swiss-Prot
  Connexin_N UniProtKB/Swiss-Prot
  Connexin_N_sf UniProtKB/Swiss-Prot
KEGG Report rno:29585 UniProtKB/Swiss-Prot
NCBI Gene 29585 ENTREZGENE
PANTHER PTHR11984 UniProtKB/Swiss-Prot
  PTHR11984:SF65 UniProtKB/Swiss-Prot
Pfam Connexin UniProtKB/Swiss-Prot
PhenoGen Gjb3 PhenoGen
PRINTS CONNEXIN UniProtKB/Swiss-Prot
  CONNEXINB3 UniProtKB/Swiss-Prot
PROSITE CONNEXINS_1 UniProtKB/Swiss-Prot
  CONNEXINS_2 UniProtKB/Swiss-Prot
RatGTEx ENSRNOG00000014372 RatGTEx
SMART CNX UniProtKB/Swiss-Prot
  Connexin_CCC UniProtKB/Swiss-Prot
UniProt A0A654ICZ5 ENTREZGENE, UniProtKB/TrEMBL
  CXB3_RAT UniProtKB/Swiss-Prot, ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2008-05-20 Gjb3  gap junction protein, beta 3  Gjb3  gap junction membrane channel protein beta 3  Nomenclature updated to reflect human and mouse nomenclature 1299863 APPROVED
2002-06-10 Gjb3  gap junction membrane channel protein beta 3      Name updated 70584 APPROVED

RGD Curation Notes
Note Type Note Reference
gene_disease mutation of the human homolog is detected in two families with bilateral hearing impairment 1300214
gene_expression expressed in inner ear 1300214