GJB4 (gap junction protein beta 4) - Rat Genome Database

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Gene: GJB4 (gap junction protein beta 4) Homo sapiens
Analyze
Symbol: GJB4
Name: gap junction protein beta 4
RGD ID: 1352157
HGNC Page HGNC:4286
Description: Predicted to enable gap junction channel activity. Predicted to be involved in cell-cell signaling and gap junction-mediated intercellular transport. Predicted to act upstream of or within olfactory behavior and sensory perception of smell. Located in cell junction; nucleolus; and nucleoplasm. Implicated in erythrokeratodermia variabilis and erythrokeratodermia variabilis et progressiva 2.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: connexin 30.3; connexin-30.3; CX30.3; EKV; EKVP2; gap junction beta-4 protein; gap junction protein, beta 4 (connexin 30.3); gap junction protein, beta 4, 30.3kDa; MGC21116
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38134,759,740 - 34,762,327 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl134,759,740 - 34,762,327 (+)EnsemblGRCh38hg38GRCh38
GRCh37135,225,341 - 35,227,928 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36134,999,365 - 35,000,515 (+)NCBINCBI36Build 36hg18NCBI36
Build 34134,895,870 - 34,897,020NCBI
Celera133,499,066 - 33,503,049 (+)NCBICelera
Cytogenetic Map1p34.3NCBI
HuRef133,342,857 - 33,346,840 (+)NCBIHuRef
CHM1_1135,341,036 - 35,345,019 (+)NCBICHM1_1
T2T-CHM13v2.0134,622,378 - 34,624,965 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cell junction  (IDA)
connexin complex  (IBA,IEA,ISS)
gap junction  (IEA)
nucleolus  (IDA)
nucleoplasm  (IDA)
plasma membrane  (IEA,ISS)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis. Macari F, etal., Am J Hum Genet. 2000 Nov;67(5):1296-301. Epub 2000 Oct 3.
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
7. Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations. Richard G, etal., J Invest Dermatol. 2003 Apr;120(4):601-9.
8. Novel mutation in GJB4 gene (connexin 30.3) in a family with erythrokeratodermia variabilis. Sbidian E, etal., Acta Derm Venereol. 2013 Mar 27;93(2):193-5. doi: 10.2340/00015555-1436.
Additional References at PubMed
PMID:148984   PMID:1512260   PMID:11420600   PMID:11933201   PMID:12477932   PMID:14583444   PMID:14702039   PMID:15489334   PMID:16297190   PMID:16710414   PMID:19291775   PMID:19523148  
PMID:19578796   PMID:20593197   PMID:21198793   PMID:21873635   PMID:21950330   PMID:22266302   PMID:23678955   PMID:25333454   PMID:28514442   PMID:30177841   PMID:32296183   PMID:32311086  
PMID:32524838   PMID:33048975  


Genomics

Comparative Map Data
GJB4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38134,759,740 - 34,762,327 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl134,759,740 - 34,762,327 (+)EnsemblGRCh38hg38GRCh38
GRCh37135,225,341 - 35,227,928 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36134,999,365 - 35,000,515 (+)NCBINCBI36Build 36hg18NCBI36
Build 34134,895,870 - 34,897,020NCBI
Celera133,499,066 - 33,503,049 (+)NCBICelera
Cytogenetic Map1p34.3NCBI
HuRef133,342,857 - 33,346,840 (+)NCBIHuRef
CHM1_1135,341,036 - 35,345,019 (+)NCBICHM1_1
T2T-CHM13v2.0134,622,378 - 34,624,965 (+)NCBIT2T-CHM13v2.0
Gjb4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394127,234,892 - 127,247,929 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl4127,244,879 - 127,247,874 (-)EnsemblGRCm39 Ensembl
GRCm384127,341,109 - 127,354,139 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4127,351,086 - 127,354,081 (-)EnsemblGRCm38mm10GRCm38
MGSCv374127,028,330 - 127,031,325 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv364126,853,390 - 126,856,385 (-)NCBIMGSCv36mm8
Celera4125,685,465 - 125,688,462 (-)NCBICelera
Cytogenetic Map4D2.2NCBI
cM Map461.51NCBI
Gjb4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr85144,948,231 - 144,964,014 (-)NCBIGRCr8
mRatBN7.25139,675,776 - 139,679,551 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl5139,675,780 - 139,679,667 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx5142,370,865 - 142,374,634 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.05144,140,856 - 144,144,625 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.05144,141,669 - 144,145,438 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.05145,416,343 - 145,421,122 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5145,416,343 - 145,418,992 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.05149,175,220 - 149,188,890 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45146,796,653 - 146,799,485 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.15146,806,691 - 146,809,514 (-)NCBI
Celera5138,169,674 - 138,172,325 (-)NCBICelera
RH 3.4 Map5939.1RGD
Cytogenetic Map5q36NCBI
Gjb4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545212,871,548 - 12,874,019 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495545212,871,548 - 12,874,019 (+)NCBIChiLan1.0ChiLan1.0
GJB4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21192,083,411 - 192,085,640 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11191,204,621 - 191,206,556 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0134,027,433 - 34,029,415 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1135,208,367 - 35,210,949 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl135,209,877 - 35,210,677 (+)Ensemblpanpan1.1panPan2
GJB4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1157,193,183 - 7,195,586 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha157,432,682 - 7,435,023 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0157,339,340 - 7,341,681 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl157,339,570 - 7,340,370 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1157,201,652 - 7,203,993 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0157,249,664 - 7,252,005 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0157,263,883 - 7,266,224 (-)NCBIUU_Cfam_GSD_1.0
Gjb4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505851,582,364 - 51,584,875 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647417,408,623 - 17,409,423 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647417,407,209 - 17,409,657 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GJB4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl691,007,200 - 91,008,000 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1691,004,794 - 91,008,231 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
GJB4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12098,125,073 - 98,126,343 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2098,125,345 - 98,126,145 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603318,713,673 - 18,716,333 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Gjb4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476417,813,922 - 17,814,722 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476417,812,152 - 17,814,987 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GJB4
78 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_153212.3(GJB4):c.409T>C (p.Phe137Leu) single nucleotide variant Erythrokeratodermia variabilis et progressiva 2 [RCV000005307]|not provided [RCV003332075] Chr1:34761663 [GRCh38]
Chr1:35227264 [GRCh37]
Chr1:1p34.3		 pathogenic|likely pathogenic
NM_153212.3(GJB4):c.411C>A (p.Phe137Leu) single nucleotide variant Erythrokeratodermia variabilis et progressiva 2 [RCV000005308] Chr1:34761665 [GRCh38]
Chr1:35227266 [GRCh37]
Chr1:1p34.3		 pathogenic
NM_153212.3(GJB4):c.253A>C (p.Thr85Pro) single nucleotide variant Erythrokeratodermia variabilis et progressiva 2 [RCV000005309]|not provided [RCV000413053] Chr1:34761507 [GRCh38]
Chr1:35227108 [GRCh37]
Chr1:1p34.3		 pathogenic
NM_153212.3(GJB4):c.35G>A (p.Gly12Asp) single nucleotide variant Erythrokeratodermia variabilis et progressiva 2 [RCV000005310]|not provided [RCV001723540] Chr1:34761289 [GRCh38]
Chr1:35226890 [GRCh37]
Chr1:1p34.3		 pathogenic
NM_153212.3(GJB4):c.65G>A (p.Arg22His) single nucleotide variant Erythrokeratodermia variabilis et progressiva 2 [RCV000005311]|not provided [RCV001836700] Chr1:34761319 [GRCh38]
Chr1:35226920 [GRCh37]
Chr1:1p34.3		 pathogenic|uncertain significance
NM_153212.3(GJB4):c.566T>A (p.Phe189Tyr) single nucleotide variant Erythrokeratodermia variabilis et progressiva 2 [RCV000005312] Chr1:34761820 [GRCh38]
Chr1:35227421 [GRCh37]
Chr1:1p34.3		 pathogenic
NM_153212.2(GJB4):c.321G>A (p.Leu107=) single nucleotide variant Malignant melanoma [RCV000064736] Chr1:34761575 [GRCh38]
Chr1:35227176 [GRCh37]
Chr1:34999763 [NCBI36]
Chr1:1p34.3		 not provided
NM_153212.2(GJB4):c.544G>A (p.Glu182Lys) single nucleotide variant Malignant melanoma [RCV000064737] Chr1:34761798 [GRCh38]
Chr1:35227399 [GRCh37]
Chr1:34999986 [NCBI36]
Chr1:1p34.3		 not provided
NM_153212.3(GJB4):c.611A>C (p.Glu204Ala) single nucleotide variant not provided [RCV001640268]|not specified [RCV000175987] Chr1:34761865 [GRCh38]
Chr1:35227466 [GRCh37]
Chr1:1p34.3		 benign
NM_153212.3(GJB4):c.153del (p.Phe51fs) deletion Erythrokeratodermia variabilis et progressiva 2 [RCV002505255]|not provided [RCV000964806]|not specified [RCV000175989] Chr1:34761405 [GRCh38]
Chr1:35227006 [GRCh37]
Chr1:1p34.3		 benign|likely benign
GRCh38/hg38 1p34.3(chr1:34753938-36055310)x1 copy number loss See cases [RCV000137966] Chr1:34753938..36055310 [GRCh38]
Chr1:35219539..36520911 [GRCh37]
Chr1:34992126..36293498 [NCBI36]
Chr1:1p34.3		 likely pathogenic
GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3 copy number gain See cases [RCV000138891] Chr1:24381206..41401517 [GRCh38]
Chr1:24707696..41886350 [GRCh37]
Chr1:24580283..41658937 [NCBI36]
Chr1:1p36.11-34.2		 pathogenic
NM_153212.3(GJB4):c.495C>T (p.Ser165=) single nucleotide variant not provided [RCV000175986] Chr1:34761749 [GRCh38]
Chr1:35227350 [GRCh37]
Chr1:1p34.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_153212.3(GJB4):c.*17A>G single nucleotide variant not provided [RCV001541607]|not specified [RCV000175988] Chr1:34762072 [GRCh38]
Chr1:35227673 [GRCh37]
Chr1:1p34.3		 benign
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12		 likely benign
NM_153212.3(GJB4):c.507C>G (p.Cys169Trp) single nucleotide variant GJB4-related condition [RCV003977709]|not provided [RCV002057269]|not specified [RCV000238662] Chr1:34761761 [GRCh38]
Chr1:35227362 [GRCh37]
Chr1:1p34.3		 benign
NM_153212.3(GJB4):c.386G>A (p.Trp129Ter) single nucleotide variant Erythrokeratodermia variabilis et progressiva 1 [RCV000625934]|Erythrokeratodermia variabilis et progressiva 2 [RCV002248829]|not provided [RCV003222066] Chr1:34761640 [GRCh38]
Chr1:35227241 [GRCh37]
Chr1:1p34.3		 pathogenic|likely pathogenic|uncertain significance
NM_153212.3(GJB4):c.109G>A (p.Val37Met) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 1A [RCV000490427]|not provided [RCV002054359] Chr1:34761363 [GRCh38]
Chr1:35226964 [GRCh37]
Chr1:1p34.3		 benign|uncertain significance
NM_153212.3(GJB4):c.154G>A (p.Val52Ile) single nucleotide variant not provided [RCV003221509] Chr1:34761408 [GRCh38]
Chr1:35227009 [GRCh37]
Chr1:1p34.3		 uncertain significance
GRCh37/hg19 1p34.3(chr1:34830287-36945093)x1 copy number loss See cases [RCV000448022] Chr1:34830287..36945093 [GRCh37]
Chr1:1p34.3		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_153212.3(GJB4):c.496G>A (p.Val166Met) single nucleotide variant Inborn genetic diseases [RCV003273473] Chr1:34761750 [GRCh38]
Chr1:35227351 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_153212.3(GJB4):c.89T>C (p.Ile30Thr) single nucleotide variant Inborn genetic diseases [RCV003249710] Chr1:34761343 [GRCh38]
Chr1:35226944 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_153212.3(GJB4):c.121G>A (p.Glu41Lys) single nucleotide variant Erythrokeratodermia variabilis et progressiva 2 [RCV003239280] Chr1:34761375 [GRCh38]
Chr1:35226976 [GRCh37]
Chr1:1p34.3		 uncertain significance
NC_000001.10:g.(?_33241563)_(46663513_?)dup duplication Charcot-Marie-Tooth disease dominant intermediate C [RCV000708276] Chr1:33241563..46663513 [GRCh37]
Chr1:1p35.1-34.1		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p35.2-34.3(chr1:31562164-37421958)x3 copy number gain not provided [RCV000748949] Chr1:31562164..37421958 [GRCh37]
Chr1:1p35.2-34.3		 pathogenic
NM_153212.3(GJB4):c.303C>G (p.Arg101=) single nucleotide variant not provided [RCV000961272] Chr1:34761557 [GRCh38]
Chr1:35227158 [GRCh37]
Chr1:1p34.3		 benign
NM_153212.3(GJB4):c.411C>T (p.Phe137=) single nucleotide variant not provided [RCV000901008] Chr1:34761665 [GRCh38]
Chr1:35227266 [GRCh37]
Chr1:1p34.3		 likely benign
NM_153212.3(GJB4):c.108C>T (p.Tyr36=) single nucleotide variant not provided [RCV000882082] Chr1:34761362 [GRCh38]
Chr1:35226963 [GRCh37]
Chr1:1p34.3		 benign
NM_153212.3(GJB4):c.219C>T (p.His73=) single nucleotide variant not provided [RCV000881096] Chr1:34761473 [GRCh38]
Chr1:35227074 [GRCh37]
Chr1:1p34.3		 benign|likely benign
NM_153212.3(GJB4):c.228C>G (p.Leu76=) single nucleotide variant not provided [RCV000883644] Chr1:34761482 [GRCh38]
Chr1:35227083 [GRCh37]
Chr1:1p34.3		 benign
NM_153212.3(GJB4):c.627G>A (p.Val209=) single nucleotide variant not provided [RCV000883645] Chr1:34761881 [GRCh38]
Chr1:35227482 [GRCh37]
Chr1:1p34.3		 benign
NM_153212.3(GJB4):c.223C>T (p.Arg75Cys) single nucleotide variant not provided [RCV000908467] Chr1:34761477 [GRCh38]
Chr1:35227078 [GRCh37]
Chr1:1p34.3		 benign
NM_153212.3(GJB4):c.238C>T (p.Gln80Ter) single nucleotide variant Erythrokeratodermia variabilis et progressiva 2 [RCV002489377]|GJB4-related condition [RCV003916164]|not provided [RCV000964807] Chr1:34761492 [GRCh38]
Chr1:35227093 [GRCh37]
Chr1:1p34.3		 benign|likely benign
NM_153212.3(GJB4):c.516T>C (p.Thr172=) single nucleotide variant not provided [RCV000961273] Chr1:34761770 [GRCh38]
Chr1:35227371 [GRCh37]
Chr1:1p34.3		 benign
NM_153212.3(GJB4):c.384G>A (p.Trp128Ter) single nucleotide variant not provided [RCV000954577] Chr1:34761638 [GRCh38]
Chr1:35227239 [GRCh37]
Chr1:1p34.3		 pathogenic|benign|conflicting interpretations of pathogenicity
NM_153212.3(GJB4):c.138T>C (p.Asp46=) single nucleotide variant not provided [RCV000961270] Chr1:34761392 [GRCh38]
Chr1:35226993 [GRCh37]
Chr1:1p34.3		 benign
GRCh37/hg19 1p35.1-34.3(chr1:32859415-36454915) copy number loss not provided [RCV000767772] Chr1:32859415..36454915 [GRCh37]
Chr1:1p35.1-34.3		 pathogenic
GRCh37/hg19 1p34.3(chr1:34915050-36163162)x3 copy number gain not provided [RCV000847115] Chr1:34915050..36163162 [GRCh37]
Chr1:1p34.3		 uncertain significance
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 copy number gain Global developmental delay [RCV000787285] Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1		 uncertain significance
NM_153212.3(GJB4):c.699G>A (p.Thr233=) single nucleotide variant not provided [RCV000909231] Chr1:34761953 [GRCh38]
Chr1:35227554 [GRCh37]
Chr1:1p34.3		 benign
NM_153212.3(GJB4):c.183C>A (p.Pro61=) single nucleotide variant GJB4-related condition [RCV003928592]|not provided [RCV000974835] Chr1:34761437 [GRCh38]
Chr1:35227038 [GRCh37]
Chr1:1p34.3		 benign
NM_153212.3(GJB4):c.207C>G (p.Phe69Leu) single nucleotide variant not provided [RCV000961271] Chr1:34761461 [GRCh38]
Chr1:35227062 [GRCh37]
Chr1:1p34.3		 benign
NM_153212.3(GJB4):c.417C>T (p.Ala139=) single nucleotide variant not provided [RCV000937049] Chr1:34761671 [GRCh38]
Chr1:35227272 [GRCh37]
Chr1:1p34.3		 likely benign
NM_153212.3(GJB4):c.224G>A (p.Arg75His) single nucleotide variant GJB4-related condition [RCV003970845]|not provided [RCV000964369] Chr1:34761478 [GRCh38]
Chr1:35227079 [GRCh37]
Chr1:1p34.3		 benign
NM_153212.3(GJB4):c.480C>T (p.Arg160=) single nucleotide variant not provided [RCV000931363] Chr1:34761734 [GRCh38]
Chr1:35227335 [GRCh37]
Chr1:1p34.3		 likely benign
NM_153212.3(GJB4):c.371G>A (p.Arg124Gln) single nucleotide variant GJB4-related condition [RCV003930660]|not provided [RCV000885816] Chr1:34761625 [GRCh38]
Chr1:35227226 [GRCh37]
Chr1:1p34.3		 likely benign
NM_153212.3(GJB4):c.369G>A (p.Lys123=) single nucleotide variant GJB4-related condition [RCV003903304]|not provided [RCV000957486] Chr1:34761623 [GRCh38]
Chr1:35227224 [GRCh37]
Chr1:1p34.3		 likely benign
NM_153212.3(GJB4):c.693C>T (p.Pro231=) single nucleotide variant not provided [RCV000911987] Chr1:34761947 [GRCh38]
Chr1:35227548 [GRCh37]
Chr1:1p34.3		 benign
NM_153212.3(GJB4):c.186C>T (p.Asn62=) single nucleotide variant not provided [RCV001655088] Chr1:34761440 [GRCh38]
Chr1:35227041 [GRCh37]
Chr1:1p34.3		 benign
NM_153212.3(GJB4):c.451C>A (p.Arg151Ser) single nucleotide variant not provided [RCV001639270] Chr1:34761705 [GRCh38]
Chr1:35227306 [GRCh37]
Chr1:1p34.3		 benign
NM_153212.3(GJB4):c.-322-278T>C single nucleotide variant not provided [RCV001649728] Chr1:34760655 [GRCh38]
Chr1:35226256 [GRCh37]
Chr1:1p34.3		 benign
NM_153212.3(GJB4):c.155_158del (p.Val52fs) deletion not provided [RCV001694552] Chr1:34761407..34761410 [GRCh38]
Chr1:35227008..35227011 [GRCh37]
Chr1:1p34.3		 benign
NM_153212.3(GJB4):c.370C>T (p.Arg124Trp) single nucleotide variant not provided [RCV001319000] Chr1:34761624 [GRCh38]
Chr1:35227225 [GRCh37]
Chr1:1p34.3		 uncertain significance
NC_000001.10:g.(?_33241563)_(46663513_?)dup duplication Charcot-Marie-Tooth disease, dominant intermediate C [RCV001308684] Chr1:33241563..46663513 [GRCh37]
Chr1:1p35.1-34.1		 uncertain significance
NM_153212.3(GJB4):c.*60A>C single nucleotide variant not provided [RCV001675258] Chr1:34762115 [GRCh38]
Chr1:35227716 [GRCh37]
Chr1:1p34.3		 benign
NM_153212.3(GJB4):c.187G>A (p.Val63Ile) single nucleotide variant not provided [RCV003108630] Chr1:34761441 [GRCh38]
Chr1:35227042 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_153212.3(GJB4):c.292C>T (p.Arg98Cys) single nucleotide variant not provided [RCV001756639]|not specified [RCV002246472] Chr1:34761546 [GRCh38]
Chr1:35227147 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_153212.3(GJB4):c.215C>T (p.Ser72Phe) single nucleotide variant not provided [RCV002008588] Chr1:34761469 [GRCh38]
Chr1:35227070 [GRCh37]
Chr1:1p34.3		 uncertain significance
GRCh37/hg19 1p35.1-33(chr1:33285582-47891811) copy number gain not specified [RCV002052781] Chr1:33285582..47891811 [GRCh37]
Chr1:1p35.1-33		 pathogenic
NM_153212.3(GJB4):c.542C>T (p.Thr181Met) single nucleotide variant not provided [RCV002165881] Chr1:34761796 [GRCh38]
Chr1:35227397 [GRCh37]
Chr1:1p34.3		 benign
NM_153212.3(GJB4):c.178T>G (p.Cys60Gly) single nucleotide variant Erythrokeratodermia variabilis et progressiva 2 [RCV003328527]|Inborn genetic diseases [RCV003025479]|not provided [RCV002147500] Chr1:34761432 [GRCh38]
Chr1:35227033 [GRCh37]
Chr1:1p34.3		 likely benign|uncertain significance
NM_153212.3(GJB4):c.435C>T (p.Phe145=) single nucleotide variant not provided [RCV002167828] Chr1:34761689 [GRCh38]
Chr1:35227290 [GRCh37]
Chr1:1p34.3		 likely benign
NM_153212.3(GJB4):c.307C>T (p.Arg103Cys) single nucleotide variant not provided [RCV002078968] Chr1:34761561 [GRCh38]
Chr1:35227162 [GRCh37]
Chr1:1p34.3		 benign
NM_153212.3(GJB4):c.568A>T (p.Met190Leu) single nucleotide variant not provided [RCV002164472]|not specified [RCV002246691] Chr1:34761822 [GRCh38]
Chr1:35227423 [GRCh37]
Chr1:1p34.3		 likely benign|uncertain significance
NM_153212.3(GJB4):c.587T>C (p.Ile196Thr) single nucleotide variant not provided [RCV002293626] Chr1:34761841 [GRCh38]
Chr1:35227442 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_153212.3(GJB4):c.680G>A (p.Arg227Gln) single nucleotide variant Inborn genetic diseases [RCV003299651] Chr1:34761934 [GRCh38]
Chr1:35227535 [GRCh37]
Chr1:1p34.3		 uncertain significance
GRCh37/hg19 1p34.3(chr1:35104233-37357913)x1 copy number loss not provided [RCV002474552] Chr1:35104233..37357913 [GRCh37]
Chr1:1p34.3		 pathogenic
NM_153212.3(GJB4):c.763G>C (p.Ala255Pro) single nucleotide variant not provided [RCV002306307] Chr1:34762017 [GRCh38]
Chr1:35227618 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_153212.3(GJB4):c.128T>C (p.Val43Ala) single nucleotide variant not provided [RCV002308743] Chr1:34761382 [GRCh38]
Chr1:35226983 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_153212.3(GJB4):c.304G>A (p.Glu102Lys) single nucleotide variant Inborn genetic diseases [RCV002969423] Chr1:34761558 [GRCh38]
Chr1:35227159 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_153212.3(GJB4):c.509C>T (p.Pro170Leu) single nucleotide variant Inborn genetic diseases [RCV002684064] Chr1:34761763 [GRCh38]
Chr1:35227364 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_153212.3(GJB4):c.431G>T (p.Gly144Val) single nucleotide variant Inborn genetic diseases [RCV002997594] Chr1:34761685 [GRCh38]
Chr1:35227286 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_153212.3(GJB4):c.479G>A (p.Arg160His) single nucleotide variant Inborn genetic diseases [RCV003340597]|not provided [RCV003036999] Chr1:34761733 [GRCh38]
Chr1:35227334 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_153212.3(GJB4):c.484G>A (p.Val162Met) single nucleotide variant Inborn genetic diseases [RCV002705114] Chr1:34761738 [GRCh38]
Chr1:35227339 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_153212.3(GJB4):c.552G>T (p.Lys184Asn) single nucleotide variant Inborn genetic diseases [RCV002911697] Chr1:34761806 [GRCh38]
Chr1:35227407 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_153212.3(GJB4):c.139G>A (p.Glu47Lys) single nucleotide variant Inborn genetic diseases [RCV002699495] Chr1:34761393 [GRCh38]
Chr1:35226994 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_153212.3(GJB4):c.62G>A (p.Ser21Asn) single nucleotide variant Inborn genetic diseases [RCV002718430] Chr1:34761316 [GRCh38]
Chr1:35226917 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_153212.3(GJB4):c.37G>A (p.Val13Met) single nucleotide variant not provided [RCV003061077] Chr1:34761291 [GRCh38]
Chr1:35226892 [GRCh37]
Chr1:1p34.3		 likely benign
NM_153212.3(GJB4):c.749C>G (p.Ser250Cys) single nucleotide variant Inborn genetic diseases [RCV002896190] Chr1:34762003 [GRCh38]
Chr1:35227604 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_153212.3(GJB4):c.98T>C (p.Val33Ala) single nucleotide variant not provided [RCV002584727] Chr1:34761352 [GRCh38]
Chr1:35226953 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_153212.3(GJB4):c.730C>T (p.His244Tyr) single nucleotide variant Inborn genetic diseases [RCV002722431] Chr1:34761984 [GRCh38]
Chr1:35227585 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_153212.3(GJB4):c.314A>G (p.His105Arg) single nucleotide variant Inborn genetic diseases [RCV003178090] Chr1:34761568 [GRCh38]
Chr1:35227169 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_153212.3(GJB4):c.637T>C (p.Cys213Arg) single nucleotide variant not provided [RCV003322108] Chr1:34761891 [GRCh38]
Chr1:35227492 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_153212.3(GJB4):c.7T>C (p.Trp3Arg) single nucleotide variant Inborn genetic diseases [RCV003370595] Chr1:34761261 [GRCh38]
Chr1:35226862 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_153212.3(GJB4):c.449A>G (p.His150Arg) single nucleotide variant Inborn genetic diseases [RCV003362067] Chr1:34761703 [GRCh38]
Chr1:35227304 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_153212.3(GJB4):c.120G>A (p.Ala40=) single nucleotide variant not provided [RCV003406316] Chr1:34761374 [GRCh38]
Chr1:35226975 [GRCh37]
Chr1:1p34.3		 likely benign
Single allele inversion Bilateral polymicrogyria [RCV003459046] Chr1:33246132..61045156 [GRCh38]
Chr1:1p35.1-31.3		 likely pathogenic
NM_153212.3(GJB4):c.250G>T (p.Val84Phe) single nucleotide variant not provided [RCV003834777] Chr1:34761504 [GRCh38]
Chr1:35227105 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_153212.3(GJB4):c.511C>A (p.His171Asn) single nucleotide variant not provided [RCV003836714] Chr1:34761765 [GRCh38]
Chr1:35227366 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_153212.3(GJB4):c.283G>A (p.Val95Met) single nucleotide variant not provided [RCV003558996] Chr1:34761537 [GRCh38]
Chr1:35227138 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_153212.3(GJB4):c.294C>T (p.Arg98=) single nucleotide variant GJB4-related condition [RCV003956552]|not provided [RCV003736275] Chr1:34761548 [GRCh38]
Chr1:35227149 [GRCh37]
Chr1:1p34.3		 benign|likely benign
NM_153212.3(GJB4):c.653G>A (p.Gly218Asp) single nucleotide variant not provided [RCV003872288] Chr1:34761907 [GRCh38]
Chr1:35227508 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_153212.3(GJB4):c.94C>T (p.Arg32Cys) single nucleotide variant not provided [RCV003719959] Chr1:34761348 [GRCh38]
Chr1:35226949 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_153212.3(GJB4):c.50_151del (p.Ser17_Asp50del) deletion not provided [RCV003677665] Chr1:34761301..34761402 [GRCh38]
Chr1:35226902..35227003 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_153212.3(GJB4):c.1del (p.Met1*) deletion Erythrokeratodermia variabilis et progressiva 2 [RCV003989009] Chr1:34761255 [GRCh38]
Chr1:35226856 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_153212.3(GJB4):c.330G>A (p.Gly110=) single nucleotide variant GJB4-related condition [RCV003961959] Chr1:34761584 [GRCh38]
Chr1:35227185 [GRCh37]
Chr1:1p34.3		 likely benign
NM_153212.3(GJB4):c.507C>A (p.Cys169Ter) single nucleotide variant Erythrokeratodermia variabilis et progressiva 2 [RCV003994691] Chr1:34761761 [GRCh38]
Chr1:35227362 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_153212.3(GJB4):c.508C>T (p.Pro170Ser) single nucleotide variant Inborn genetic diseases [RCV004390799] Chr1:34761762 [GRCh38]
Chr1:35227363 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_153212.3(GJB4):c.667C>T (p.Arg223Trp) single nucleotide variant Inborn genetic diseases [RCV004390801] Chr1:34761921 [GRCh38]
Chr1:35227522 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_153212.3(GJB4):c.223C>A (p.Arg75Ser) single nucleotide variant Inborn genetic diseases [RCV004390797] Chr1:34761477 [GRCh38]
Chr1:35227078 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_153212.3(GJB4):c.586A>G (p.Ile196Val) single nucleotide variant Inborn genetic diseases [RCV004390800] Chr1:34761840 [GRCh38]
Chr1:35227441 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_153212.3(GJB4):c.293G>A (p.Arg98His) single nucleotide variant Inborn genetic diseases [RCV004390798] Chr1:34761547 [GRCh38]
Chr1:35227148 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_153212.3(GJB4):c.69C>G (p.Ile23Met) single nucleotide variant Inborn genetic diseases [RCV004390802] Chr1:34761323 [GRCh38]
Chr1:35226924 [GRCh37]
Chr1:1p34.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1000
Count of miRNA genes:599
Interacting mature miRNAs:669
Transcripts:ENST00000339480
Prediction methods:Miranda, Rnahybrid, Targetscan
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.

Markers in Region
GJB5_1602  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37135,223,369 - 35,224,110UniSTSGRCh37
Build 36134,995,956 - 34,996,697RGDNCBI36
Celera133,497,093 - 33,497,834RGD
HuRef133,340,884 - 33,341,625UniSTS
GJB4_2581  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37135,227,287 - 35,227,891UniSTSGRCh37
Build 36134,999,874 - 35,000,478RGDNCBI36
Celera133,501,011 - 33,501,615RGD
HuRef133,344,802 - 33,345,406UniSTS
RH77843  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37135,223,874 - 35,224,045UniSTSGRCh37
Build 36134,996,461 - 34,996,632RGDNCBI36
Celera133,497,598 - 33,497,769RGD
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p35.1UniSTS
HuRef133,341,389 - 33,341,560UniSTS
GeneMap99-GB4 RH Map1110.26UniSTS
NCBI RH Map1223.3UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 20 1 4 4 4 1273 27 30 17 2 1 676
Low 154 4 36 76 32 16 69 5 8 56 494 130 70 1 9 29 1 1
Below cutoff 1444 1739 1094 322 715 225 2077 1245 2608 167 701 1088 99 829 1468 2

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000339480   ⟹   ENSP00000345868
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl134,759,740 - 34,762,327 (+)Ensembl
RefSeq Acc Id: NM_153212   ⟹   NP_694944
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38134,759,740 - 34,762,327 (+)NCBI
GRCh37135,225,342 - 35,229,325 (+)ENTREZGENE
Build 36134,999,365 - 35,000,515 (+)NCBI Archive
HuRef133,342,857 - 33,346,840 (+)ENTREZGENE
CHM1_1135,341,036 - 35,345,019 (+)NCBI
T2T-CHM13v2.0134,622,378 - 34,624,965 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011540679   ⟹   XP_011538981
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38134,759,854 - 34,762,327 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054334340   ⟹   XP_054190315
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0134,622,492 - 34,624,965 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_694944   ⟸   NM_153212
- UniProtKB: B3KQ82 (UniProtKB/Swiss-Prot),   Q9NTQ9 (UniProtKB/Swiss-Prot),   A0A654IBS8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011538981   ⟸   XM_011540679
- Peptide Label: isoform X1
- UniProtKB: B3KQ82 (UniProtKB/Swiss-Prot),   Q9NTQ9 (UniProtKB/Swiss-Prot),   A0A654IBS8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000345868   ⟸   ENST00000339480
RefSeq Acc Id: XP_054190315   ⟸   XM_054334340
- Peptide Label: isoform X1
- UniProtKB: Q9NTQ9 (UniProtKB/Swiss-Prot),   B3KQ82 (UniProtKB/Swiss-Prot),   A0A654IBS8 (UniProtKB/TrEMBL)
Protein Domains
Connexin N-terminal   Gap junction protein cysteine-rich

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NTQ9-F1-model_v2 AlphaFold Q9NTQ9 1-266 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4286 AgrOrtholog
COSMIC GJB4 COSMIC
Ensembl Genes ENSG00000189433 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000339480 ENTREZGENE
  ENST00000339480.3 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.1440.80 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000189433 GTEx
HGNC ID HGNC:4286 ENTREZGENE
Human Proteome Map GJB4 Human Proteome Map
InterPro Connexin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Connexin311 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Connexin_CCC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Connexin_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Connexin_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Connexin_N_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:127534 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 127534 ENTREZGENE
OMIM 605425 OMIM
PANTHER PTHR11984 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11984:SF30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Connexin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28697 PharmGKB
PRINTS CONNEXIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CONNEXINB5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE CONNEXINS_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CONNEXINS_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART CNX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Connexin_CCC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A654IBS8 ENTREZGENE, UniProtKB/TrEMBL
  B3KQ82 ENTREZGENE
  CXB4_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B3KQ82 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-17 GJB4  gap junction protein beta 4    gap junction protein, beta 4, 30.3kDa  Symbol and/or name change 5135510 APPROVED