B3GNT4 (UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4) - Rat Genome Database

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Gene: B3GNT4 (UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4) Homo sapiens
Analyze
Symbol: B3GNT4
Name: UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4
RGD ID: 1320043
HGNC Page HGNC:15683
Description: Enables N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity. Involved in poly-N-acetyllactosamine biosynthetic process. Predicted to be located in Golgi apparatus and membrane. Predicted to be active in Golgi membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: B3GN-T4; beta-1,3-Gn-T4; beta-1,3-N-acetylglucosaminyltransferase 4; beta-1,3-N-acetylglucosaminyltransferase bGn-T4; beta3Gn-T4; BGnT-4; N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 4
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
GRCh3812122,203,709 - 122,208,952 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl12122,203,681 - 122,208,952 (+)EnsemblGRCh38hg38GRCh38
GRCh3712122,688,256 - 122,693,499 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3612121,254,181 - 121,258,037 (+)NCBINCBI36Build 36hg18NCBI36
Build 3412121,213,107 - 121,216,963NCBI
Celera12122,277,574 - 122,281,430 (+)NCBICelera
Cytogenetic Map12q24.31NCBI
HuRef12119,649,164 - 119,653,020 (+)NCBIHuRef
CHM1_112122,656,521 - 122,660,380 (+)NCBICHM1_1
T2T-CHM13v2.012122,199,497 - 122,204,740 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
Golgi apparatus  (IEA)
Golgi membrane  (IBA,IEA,TAS)
membrane  (IEA)

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10580128   PMID:11042166   PMID:12477932   PMID:12975309   PMID:14702039   PMID:16169070   PMID:16344560   PMID:21145461   PMID:21873635   PMID:23263486   PMID:33961781   PMID:36724073  


Genomics

Comparative Map Data
B3GNT4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3812122,203,709 - 122,208,952 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl12122,203,681 - 122,208,952 (+)EnsemblGRCh38hg38GRCh38
GRCh3712122,688,256 - 122,693,499 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3612121,254,181 - 121,258,037 (+)NCBINCBI36Build 36hg18NCBI36
Build 3412121,213,107 - 121,216,963NCBI
Celera12122,277,574 - 122,281,430 (+)NCBICelera
Cytogenetic Map12q24.31NCBI
HuRef12119,649,164 - 119,653,020 (+)NCBIHuRef
CHM1_112122,656,521 - 122,660,380 (+)NCBICHM1_1
T2T-CHM13v2.012122,199,497 - 122,204,740 (+)NCBIT2T-CHM13v2.0
B3gnt4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395123,646,519 - 123,649,945 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl5123,648,523 - 123,649,945 (+)EnsemblGRCm39 Ensembl
GRCm385123,508,461 - 123,511,882 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5123,510,460 - 123,511,882 (+)EnsemblGRCm38mm10GRCm38
MGSCv375123,960,469 - 123,961,891 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv365123,771,078 - 123,772,500 (+)NCBIMGSCv36mm8
Celera5120,597,308 - 120,598,730 (+)NCBICelera
Cytogenetic Map5FNCBI
cM Map563.02NCBI
B3gnt4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81238,729,653 - 38,734,911 (-)NCBIGRCr8
mRatBN7.21233,070,221 - 33,073,904 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1233,060,416 - 33,073,854 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1234,249,189 - 34,250,602 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01234,860,540 - 34,861,953 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01233,912,429 - 33,913,842 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01238,503,361 - 38,506,793 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1238,503,361 - 38,504,774 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01240,384,776 - 40,388,648 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41234,209,650 - 34,211,063 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11234,073,292 - 34,074,342 (-)NCBI
Celera1234,755,422 - 34,756,835 (-)NCBICelera
Cytogenetic Map12q16NCBI
B3gnt4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554826,359,967 - 6,365,344 (-)NCBIChiLan1.0ChiLan1.0
B3GNT4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v210130,294,008 - 130,297,877 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan112130,293,033 - 130,294,253 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v012119,804,502 - 119,814,294 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.112123,172,431 - 123,181,427 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl12123,172,431 - 123,176,283 (+)Ensemblpanpan1.1panPan2
B3GNT4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1267,145,120 - 7,147,732 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl267,145,262 - 7,146,335 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha267,305,308 - 7,308,871 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0267,396,617 - 7,400,186 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl267,396,760 - 7,400,411 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1267,328,767 - 7,332,313 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0267,419,678 - 7,423,246 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0267,375,419 - 7,378,983 (-)NCBIUU_Cfam_GSD_1.0
B3gnt4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118157,206,764 - 157,211,525 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365582,269,367 - 2,270,413 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365582,269,182 - 2,272,664 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
B3GNT4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1430,520,077 - 30,523,060 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11430,520,075 - 30,524,275 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21432,327,298 - 32,337,894 (+)NCBISscrofa10.2Sscrofa10.2susScr3
B3GNT4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.111117,552,133 - 117,555,112 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666037127,771,241 - 127,774,996 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
B3gnt4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462474722,440,284 - 22,441,539 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in B3GNT4
59 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3 copy number gain See cases [RCV000050866] Chr12:118165459..133182322 [GRCh38]
Chr12:118603264..133758908 [GRCh37]
Chr12:117087647..132268981 [NCBI36]
Chr12:12q24.23-24.33		 pathogenic
GRCh38/hg38 12q24.31(chr12:120504068-122459718)x1 copy number loss See cases [RCV000051342] Chr12:120504068..122459718 [GRCh38]
Chr12:120941871..122944265 [GRCh37]
Chr12:119426254..121510218 [NCBI36]
Chr12:12q24.31		 pathogenic
GRCh38/hg38 12q24.31(chr12:121325874-122505529)x1 copy number loss See cases [RCV000051343] Chr12:121325874..122505529 [GRCh38]
Chr12:121956483..122990076 [GRCh37]
Chr12:120248060..121556029 [NCBI36]
Chr12:12q24.31		 pathogenic
GRCh38/hg38 12q24.31(chr12:121471000-122459718)x1 copy number loss See cases [RCV000051344] Chr12:121471000..122459718 [GRCh38]
Chr12:121956483..122944265 [GRCh37]
Chr12:120393186..121510218 [NCBI36]
Chr12:12q24.31		 pathogenic
GRCh38/hg38 12q24.23-24.31(chr12:119286893-122638552)x3 copy number gain See cases [RCV000051981] Chr12:119286893..122638552 [GRCh38]
Chr12:119724698..123123099 [GRCh37]
Chr12:118209081..121689052 [NCBI36]
Chr12:12q24.23-24.31		 uncertain significance
GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3 copy number gain See cases [RCV000053689] Chr12:115131583..133166920 [GRCh38]
Chr12:115569388..133743506 [GRCh37]
Chr12:114053771..132253579 [NCBI36]
Chr12:12q24.21-24.33		 pathogenic
GRCh38/hg38 12q24.23-24.33(chr12:119417382-133191400)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053691]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053691]|See cases [RCV000053691] Chr12:119417382..133191400 [GRCh38]
Chr12:119855187..133767986 [GRCh37]
Chr12:118339570..132278059 [NCBI36]
Chr12:12q24.23-24.33		 pathogenic
GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)x3 copy number gain See cases [RCV000137651] Chr12:120697672..133202490 [GRCh38]
Chr12:121135475..133779076 [GRCh37]
Chr12:119619858..132289149 [NCBI36]
Chr12:12q24.31-24.33		 pathogenic
GRCh38/hg38 12q24.31(chr12:121802243-122229509)x3 copy number gain See cases [RCV000139275] Chr12:121802243..122229509 [GRCh38]
Chr12:122240149..122714056 [GRCh37]
Chr12:120724532..121280009 [NCBI36]
Chr12:12q24.31		 uncertain significance
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33		 pathogenic
GRCh38/hg38 12q24.31-24.32(chr12:120718786-127500215)x1 copy number loss See cases [RCV000142454] Chr12:120718786..127500215 [GRCh38]
Chr12:121156589..127984760 [GRCh37]
Chr12:119640972..126550713 [NCBI36]
Chr12:12q24.31-24.32		 pathogenic
GRCh38/hg38 12q24.31-24.32(chr12:121917758-127802717)x1 copy number loss See cases [RCV000143250] Chr12:121917758..127802717 [GRCh38]
Chr12:122355664..128287262 [GRCh37]
Chr12:120840047..126853215 [NCBI36]
Chr12:12q24.31-24.32		 pathogenic
GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3 copy number gain See cases [RCV000143656] Chr12:114268403..133201316 [GRCh38]
Chr12:114706208..133777902 [GRCh37]
Chr12:113190591..132287975 [NCBI36]
Chr12:12q24.21-24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic|likely pathogenic
GRCh37/hg19 12q24.31(chr12:122676019-122710016)x1 copy number loss See cases [RCV000239820] Chr12:122676019..122710016 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_001371333.1(DIABLO):c.670G>A (p.Gly224Arg) single nucleotide variant DIABLO-related disorder [RCV003920139]|not provided [RCV000908206]|not specified [RCV000295665] Chr12:122208431 [GRCh38]
Chr12:122692978 [GRCh37]
Chr12:12q24.31		 benign|likely benign
GRCh37/hg19 12q24.31(chr12:122614468-123019270)x3 copy number gain See cases [RCV000446468] Chr12:122614468..123019270 [GRCh37]
Chr12:12q24.31		 uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
NM_001371333.1(DIABLO):c.702_712del (p.Tyr235fs) deletion Hearing impairment [RCV001375339]|not provided [RCV000416149] Chr12:122208389..122208399 [GRCh38]
Chr12:122692936..122692946 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_030765.4(B3GNT4):c.604C>A (p.Arg202Ser) single nucleotide variant not specified [RCV004319406] Chr12:122206855 [GRCh38]
Chr12:122691402 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_001371333.1(DIABLO):c.546C>T (p.Thr182=) single nucleotide variant not provided [RCV000897925]|not specified [RCV000613417] Chr12:122208555 [GRCh38]
Chr12:122693102 [GRCh37]
Chr12:12q24.31		 benign|likely benign
NM_001371333.1(DIABLO):c.660A>G (p.Thr220=) single nucleotide variant not specified [RCV000610761] Chr12:122208441 [GRCh38]
Chr12:122692988 [GRCh37]
Chr12:12q24.31		 likely benign
NM_001371333.1(DIABLO):c.690G>A (p.Ser230=) single nucleotide variant not provided [RCV002057069]|not specified [RCV000218667] Chr12:122208411 [GRCh38]
Chr12:122692958 [GRCh37]
Chr12:12q24.31		 benign
GRCh37/hg19 12q24.23-24.33(chr12:120367241-133777645)x3 copy number gain not provided [RCV000738070] Chr12:120367241..133777645 [GRCh37]
Chr12:12q24.23-24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
NM_001371333.1(DIABLO):c.*262dup duplication not provided [RCV001690966] Chr12:122208118..122208119 [GRCh38]
Chr12:122692665..122692666 [GRCh37]
Chr12:12q24.31		 benign
NM_030765.4(B3GNT4):c.109A>G (p.Ser37Gly) single nucleotide variant not specified [RCV004293527] Chr12:122206360 [GRCh38]
Chr12:122690907 [GRCh37]
Chr12:12q24.31		 uncertain significance
GRCh37/hg19 12q24.31(chr12:122681331-122730394)x1 copy number loss not provided [RCV000849154] Chr12:122681331..122730394 [GRCh37]
Chr12:12q24.31		 uncertain significance
GRCh37/hg19 12q24.31(chr12:122598025-122995374)x3 copy number gain not provided [RCV000846735] Chr12:122598025..122995374 [GRCh37]
Chr12:12q24.31		 uncertain significance
GRCh37/hg19 12q24.31(chr12:122351591-122848069)x1 copy number loss not provided [RCV000848549] Chr12:122351591..122848069 [GRCh37]
Chr12:12q24.31		 uncertain significance
GRCh37/hg19 12q24.31-24.32(chr12:122169403-129084163)x1 copy number loss not provided [RCV000848395] Chr12:122169403..129084163 [GRCh37]
Chr12:12q24.31-24.32		 pathogenic
NM_001371333.1(DIABLO):c.525C>T (p.Gly175=) single nucleotide variant not provided [RCV001566629] Chr12:122208576 [GRCh38]
Chr12:122693123 [GRCh37]
Chr12:12q24.31		 likely benign
NM_001371333.1(DIABLO):c.*54T>C single nucleotide variant not provided [RCV001657019] Chr12:122208327 [GRCh38]
Chr12:122692874 [GRCh37]
Chr12:12q24.31		 benign
NM_001371333.1(DIABLO):c.524-255T>C single nucleotide variant not provided [RCV001687797] Chr12:122208832 [GRCh38]
Chr12:122693379 [GRCh37]
Chr12:12q24.31		 benign
NM_001371333.1(DIABLO):c.*108A>G single nucleotide variant not provided [RCV001649548] Chr12:122208273 [GRCh38]
Chr12:122692820 [GRCh37]
Chr12:12q24.31		 benign
NM_001371333.1(DIABLO):c.634_635del (p.Gln212fs) microsatellite not specified [RCV001195227] Chr12:122208466..122208467 [GRCh38]
Chr12:122693013..122693014 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_001371333.1(DIABLO):c.*78G>A single nucleotide variant not provided [RCV001794607] Chr12:122208303 [GRCh38]
Chr12:122692850 [GRCh37]
Chr12:12q24.31		 likely benign
GRCh37/hg19 12q24.31(chr12:121887337-123386068)x3 copy number gain not provided [RCV001795860] Chr12:121887337..123386068 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_001371333.1(DIABLO):c.524-20A>C single nucleotide variant not provided [RCV001759279] Chr12:122208597 [GRCh38]
Chr12:122693144 [GRCh37]
Chr12:12q24.31		 benign|likely benign
GRCh37/hg19 12q24.22-24.33(chr12:117461902-133841395)x3 copy number gain Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV001801213] Chr12:117461902..133841395 [GRCh37]
Chr12:12q24.22-24.33		 likely pathogenic
NM_001371333.1(DIABLO):c.675G>A (p.Glu225=) single nucleotide variant not provided [RCV002096879] Chr12:122208426 [GRCh38]
Chr12:122692973 [GRCh37]
Chr12:12q24.31		 likely benign
NM_001371333.1(DIABLO):c.677_700del (p.Glu226_Glu233del) deletion DIABLO-related disorder [RCV003978824]|not provided [RCV002121758] Chr12:122208401..122208424 [GRCh38]
Chr12:122692948..122692971 [GRCh37]
Chr12:12q24.31		 likely benign
NC_000012.11:g.(?_122277634)_(124242579_?)del deletion not provided [RCV003111519] Chr12:122277634..124242579 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_030765.4(B3GNT4):c.632C>T (p.Ala211Val) single nucleotide variant not specified [RCV004329429] Chr12:122206883 [GRCh38]
Chr12:122691430 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_030765.4(B3GNT4):c.682G>A (p.Val228Met) single nucleotide variant not specified [RCV004091098] Chr12:122206933 [GRCh38]
Chr12:122691480 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_030765.4(B3GNT4):c.1049G>A (p.Arg350His) single nucleotide variant not specified [RCV004079025] Chr12:122207300 [GRCh38]
Chr12:122691847 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_030765.4(B3GNT4):c.869G>A (p.Arg290His) single nucleotide variant not specified [RCV004223871] Chr12:122207120 [GRCh38]
Chr12:122691667 [GRCh37]
Chr12:12q24.31		 likely benign
NM_030765.4(B3GNT4):c.52G>A (p.Gly18Ser) single nucleotide variant not specified [RCV004116388] Chr12:122204670 [GRCh38]
Chr12:122689217 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_030765.4(B3GNT4):c.346A>G (p.Lys116Glu) single nucleotide variant not specified [RCV004227005] Chr12:122206597 [GRCh38]
Chr12:122691144 [GRCh37]
Chr12:12q24.31		 likely benign
NM_030765.4(B3GNT4):c.802A>G (p.Arg268Gly) single nucleotide variant not specified [RCV004204419] Chr12:122207053 [GRCh38]
Chr12:122691600 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_030765.4(B3GNT4):c.910G>A (p.Asp304Asn) single nucleotide variant not specified [RCV004233555] Chr12:122207161 [GRCh38]
Chr12:122691708 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_030765.4(B3GNT4):c.469T>C (p.Phe157Leu) single nucleotide variant not specified [RCV004085637] Chr12:122206720 [GRCh38]
Chr12:122691267 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_001371333.1(DIABLO):c.567G>A (p.Leu189=) single nucleotide variant not provided [RCV003005433] Chr12:122208534 [GRCh38]
Chr12:122693081 [GRCh37]
Chr12:12q24.31		 likely benign
NM_030765.4(B3GNT4):c.268C>T (p.Pro90Ser) single nucleotide variant not specified [RCV004160210] Chr12:122206519 [GRCh38]
Chr12:122691066 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_001371333.1(DIABLO):c.614A>C (p.Glu205Ala) single nucleotide variant not provided [RCV002857080] Chr12:122208487 [GRCh38]
Chr12:122693034 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_030765.4(B3GNT4):c.317C>G (p.Ser106Cys) single nucleotide variant not specified [RCV004071273] Chr12:122206568 [GRCh38]
Chr12:122691115 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_001371333.1(DIABLO):c.627A>G (p.Ala209=) single nucleotide variant not provided [RCV003009362] Chr12:122208474 [GRCh38]
Chr12:122693021 [GRCh37]
Chr12:12q24.31		 likely benign
NM_001371333.1(DIABLO):c.593A>G (p.His198Arg) single nucleotide variant not provided [RCV002606856] Chr12:122208508 [GRCh38]
Chr12:122693055 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_030765.4(B3GNT4):c.995G>A (p.Arg332Gln) single nucleotide variant not specified [RCV004226347] Chr12:122207246 [GRCh38]
Chr12:122691793 [GRCh37]
Chr12:12q24.31		 likely benign
NM_001371333.1(DIABLO):c.699_700delinsCT (p.Glu233_Ala234delinsAspSer) indel not provided [RCV002585229] Chr12:122208401..122208402 [GRCh38]
Chr12:122692948..122692949 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_001371333.1(DIABLO):c.605G>A (p.Arg202Gln) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 64 [RCV003146080]|not provided [RCV003561190] Chr12:122208496 [GRCh38]
Chr12:122693043 [GRCh37]
Chr12:12q24.31		 likely benign|uncertain significance
NM_030765.4(B3GNT4):c.1108T>G (p.Cys370Gly) single nucleotide variant not specified [RCV004266297] Chr12:122207359 [GRCh38]
Chr12:122691906 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_030765.4(B3GNT4):c.1133G>A (p.Arg378His) single nucleotide variant not specified [RCV004287003] Chr12:122207384 [GRCh38]
Chr12:122691931 [GRCh37]
Chr12:12q24.31		 uncertain significance
GRCh37/hg19 12q24.31(chr12:121341598-124103434)x3 copy number gain See cases [RCV003329531] Chr12:121341598..124103434 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_030765.4(B3GNT4):c.648G>T (p.Lys216Asn) single nucleotide variant not specified [RCV004350705] Chr12:122206899 [GRCh38]
Chr12:122691446 [GRCh37]
Chr12:12q24.31		 uncertain significance
GRCh37/hg19 12q24.31-24.33(chr12:121551496-133777902)x3 copy number gain not provided [RCV003484881] Chr12:121551496..133777902 [GRCh37]
Chr12:12q24.31-24.33		 pathogenic
GRCh37/hg19 12q24.31-24.33(chr12:120880079-133777902)x3 copy number gain not provided [RCV003484880] Chr12:120880079..133777902 [GRCh37]
Chr12:12q24.31-24.33		 pathogenic
NM_001371333.1(DIABLO):c.604C>T (p.Arg202Trp) single nucleotide variant DIABLO-related disorder [RCV003421058] Chr12:122208497 [GRCh38]
Chr12:122693044 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_001371333.1(DIABLO):c.709C>T (p.Arg237Cys) single nucleotide variant not provided [RCV003392159] Chr12:122208392 [GRCh38]
Chr12:122692939 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_001371333.1(DIABLO):c.710G>A (p.Arg237His) single nucleotide variant not provided [RCV003724440] Chr12:122208391 [GRCh38]
Chr12:122692938 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_001371333.1(DIABLO):c.611C>T (p.Ala204Val) single nucleotide variant not provided [RCV003814282] Chr12:122208490 [GRCh38]
Chr12:122693037 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_001371333.1(DIABLO):c.689C>T (p.Ser230Leu) single nucleotide variant not provided [RCV003682584] Chr12:122208412 [GRCh38]
Chr12:122692959 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_001371333.1(DIABLO):c.710G>C (p.Arg237Pro) single nucleotide variant not specified [RCV004373691] Chr12:122208391 [GRCh38]
Chr12:122692938 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_030765.4(B3GNT4):c.573C>A (p.Phe191Leu) single nucleotide variant not specified [RCV004423492] Chr12:122206824 [GRCh38]
Chr12:122691371 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_030765.4(B3GNT4):c.673G>A (p.Val225Ile) single nucleotide variant not specified [RCV004423493] Chr12:122206924 [GRCh38]
Chr12:122691471 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_030765.4(B3GNT4):c.796A>G (p.Met266Val) single nucleotide variant not specified [RCV004423495] Chr12:122207047 [GRCh38]
Chr12:122691594 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_030765.4(B3GNT4):c.1033C>G (p.Leu345Val) single nucleotide variant not specified [RCV004423488] Chr12:122207284 [GRCh38]
Chr12:122691831 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_030765.4(B3GNT4):c.217C>T (p.His73Tyr) single nucleotide variant not specified [RCV004423491] Chr12:122206468 [GRCh38]
Chr12:122691015 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_030765.4(B3GNT4):c.769A>G (p.Lys257Glu) single nucleotide variant not specified [RCV004423494] Chr12:122207020 [GRCh38]
Chr12:122691567 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_030765.4(B3GNT4):c.991C>T (p.Arg331Trp) single nucleotide variant not specified [RCV004423496] Chr12:122207242 [GRCh38]
Chr12:122691789 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_030765.4(B3GNT4):c.203C>T (p.Pro68Leu) single nucleotide variant not specified [RCV004423490] Chr12:122206454 [GRCh38]
Chr12:122691001 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_030765.4(B3GNT4):c.1030G>A (p.Gly344Arg) single nucleotide variant not specified [RCV004423487] Chr12:122207281 [GRCh38]
Chr12:122691828 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_030765.4(B3GNT4):c.1069T>G (p.Trp357Gly) single nucleotide variant not specified [RCV004423489] Chr12:122207320 [GRCh38]
Chr12:122691867 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_030765.4(B3GNT4):c.560C>A (p.Thr187Asn) single nucleotide variant not specified [RCV004599932] Chr12:122206811 [GRCh38]
Chr12:122691358 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_030765.4(B3GNT4):c.104C>T (p.Ser35Leu) single nucleotide variant not specified [RCV004599962] Chr12:122206355 [GRCh38]
Chr12:122690902 [GRCh37]
Chr12:12q24.31		 likely benign
NM_030765.4(B3GNT4):c.823T>A (p.Tyr275Asn) single nucleotide variant not specified [RCV004599980] Chr12:122207074 [GRCh38]
Chr12:122691621 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_001371333.1(DIABLO):c.718T>C (p.Ter240Arg) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 64 [RCV004585113] Chr12:122208383 [GRCh38]
Chr12:122692930 [GRCh37]
Chr12:12q24.31		 likely pathogenic
NM_030765.4(B3GNT4):c.423G>T (p.Trp141Cys) single nucleotide variant not specified [RCV004599942] Chr12:122206674 [GRCh38]
Chr12:122691221 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_030765.4(B3GNT4):c.839G>T (p.Gly280Val) single nucleotide variant not specified [RCV004599987] Chr12:122207090 [GRCh38]
Chr12:122691637 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_030765.4(B3GNT4):c.179C>T (p.Thr60Met) single nucleotide variant not specified [RCV004599970] Chr12:122206430 [GRCh38]
Chr12:122690977 [GRCh37]
Chr12:12q24.31		 likely benign
NC_000012.11:g.(?_120270555)_(124242579_?)dup duplication Deficiency of butyryl-CoA dehydrogenase [RCV004578383] Chr12:120270555..124242579 [GRCh37]
Chr12:12q24.23-24.31		 uncertain significance
NC_000012.11:g.(?_121416034)_(122985387_?)del deletion not provided [RCV004578479] Chr12:121416034..122985387 [GRCh37]
Chr12:12q24.31		 pathogenic
NM_030765.4(B3GNT4):c.452G>A (p.Arg151Gln) single nucleotide variant not specified [RCV004599953] Chr12:122206703 [GRCh38]
Chr12:122691250 [GRCh37]
Chr12:12q24.31		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1707
Count of miRNA genes:834
Interacting mature miRNAs:1004
Transcripts:ENST00000324189, ENST00000535274, ENST00000537991, ENST00000538257, ENST00000545141, ENST00000546192
Prediction methods:Microtar, 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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1298449UAE2_HUrinary albumin excretion QTL 2 (human)20.005Urinary albumin excretionurine albumin:creatinine ratio (ACR)12102836889128836889Human
597186586GWAS1282660_Hbody mass index QTL GWAS1282660 (human)3e-12body mass indexbody mass index (BMI) (CMO:0000105)12122204634122204635Human
1643258BW205_HBody weight QTL 205 (human)4.080.00001Body fat amountpercent body fat1296630114122630114Human
597257018GWAS1353092_HBMI-adjusted waist-hip ratio QTL GWAS1353092 (human)1e-08body size trait (VT:0100005)12122203709122203710Human
597494942GWAS1591016_Hsexual dimorphism measurement QTL GWAS1591016 (human)2e-11sexual dimorphism measurement12122204697122204698Human
1643452BW104_HBody weight QTL 104 (human)1.890.005Body fat amountabdominal visceral12102395874128395874Human
407159617GWAS808593_Htriglyceride measurement QTL GWAS808593 (human)0.000002triglyceride measurementblood triglyceride level (CMO:0000118)12122207191122207192Human
597165294GWAS1261368_HBMI-adjusted waist-hip ratio QTL GWAS1261368 (human)3e-08body size trait (VT:0100005)12122203709122203710Human
406917576GWAS566552_Htriglyceride measurement QTL GWAS566552 (human)8e-08triglyceride measurementblood triglyceride level (CMO:0000118)12122207191122207192Human
406918744GWAS567720_Hsmoking status measurement, triglyceride measurement QTL GWAS567720 (human)0.0000006smoking status measurement, triglyceride measurementblood triglyceride level (CMO:0000118)12122207191122207192Human
406918603GWAS567579_Hsmoking status measurement, triglyceride measurement QTL GWAS567579 (human)0.0000002smoking status measurement, triglyceride measurementblood triglyceride level (CMO:0000118)12122207191122207192Human
406918670GWAS567646_Hsmoking status measurement, triglyceride measurement QTL GWAS567646 (human)1e-08smoking status measurement, triglyceride measurementblood triglyceride level (CMO:0000118)12122207191122207192Human

Markers in Region
D12S1399  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712122,692,238 - 122,692,440UniSTSGRCh37
Build 3612121,258,191 - 121,258,393RGDNCBI36
Celera12122,281,584 - 122,281,786RGD
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map12q24UniSTS
HuRef12119,653,174 - 119,653,376UniSTS
GeneMap99-GB4 RH Map12472.97UniSTS
Whitehead-RH Map12588.6UniSTS
NCBI RH Map12764.5UniSTS
D12S1578  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712122,692,325 - 122,692,433UniSTSGRCh37
Build 3612121,258,278 - 121,258,386RGDNCBI36
Celera12122,281,671 - 122,281,779RGD
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map12q24UniSTS
HuRef12119,653,261 - 119,653,369UniSTS
RH48119  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712122,691,525 - 122,691,647UniSTSGRCh37
Build 3612121,257,478 - 121,257,600RGDNCBI36
Celera12122,280,871 - 122,280,993RGD
Cytogenetic Map12q24UniSTS
HuRef12119,652,461 - 119,652,583UniSTS
GeneMap99-GB4 RH Map12471.58UniSTS
NCBI RH Map12766.2UniSTS
NIB962  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712122,692,348 - 122,692,497UniSTSGRCh37
Build 3612121,258,301 - 121,258,450RGDNCBI36
Celera12122,281,694 - 122,281,843RGD
Cytogenetic Map12q24UniSTS
Cytogenetic Map12q24.31UniSTS
HuRef12119,653,284 - 119,653,433UniSTS
GeneMap99-GB4 RH Map12471.9UniSTS
Whitehead-RH Map12586.2UniSTS
NCBI RH Map12768.4UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
1200 2426 2702 2165 4968 1688 2310 5 588 1902 430 2266 7060 6323 50 3729 845 1736 1610 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001330492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_030765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429535 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB049586 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC048338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF321825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ130848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ278962 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095746 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL834452 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC030247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC031399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX108933 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA522540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000324189   ⟹   ENSP00000319636
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12122,203,709 - 122,208,952 (+)Ensembl
Ensembl Acc Id: ENST00000535274   ⟹   ENSP00000444534
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12122,204,600 - 122,207,537 (+)Ensembl
Ensembl Acc Id: ENST00000537991   ⟹   ENSP00000493771
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12122,203,746 - 122,207,062 (+)Ensembl
Ensembl Acc Id: ENST00000538257
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12122,203,773 - 122,207,147 (+)Ensembl
Ensembl Acc Id: ENST00000545141
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12122,203,729 - 122,208,952 (+)Ensembl
Ensembl Acc Id: ENST00000546192   ⟹   ENSP00000438840
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12122,203,681 - 122,208,945 (+)Ensembl
RefSeq Acc Id: NM_001330492   ⟹   NP_001317421
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812122,203,709 - 122,208,952 (+)NCBI
T2T-CHM13v2.012122,199,497 - 122,204,740 (+)NCBI
Sequence:
RefSeq Acc Id: NM_030765   ⟹   NP_110392
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812122,203,709 - 122,208,952 (+)NCBI
GRCh3712122,688,228 - 122,692,677 (+)NCBI
Build 3612121,254,181 - 121,258,037 (+)NCBI Archive
Celera12122,277,574 - 122,281,430 (+)RGD
HuRef12119,649,164 - 119,653,020 (+)ENTREZGENE
CHM1_112122,656,521 - 122,660,380 (+)NCBI
T2T-CHM13v2.012122,199,497 - 122,204,740 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047429535   ⟹   XP_047285491
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812122,203,709 - 122,207,537 (+)NCBI
RefSeq Acc Id: XM_054373205   ⟹   XP_054229180
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.012122,200,249 - 122,204,740 (+)NCBI
RefSeq Acc Id: XM_054373206   ⟹   XP_054229181
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.012122,199,497 - 122,203,325 (+)NCBI
RefSeq Acc Id: NP_110392   ⟸   NM_030765
- Peptide Label: isoform 1
- UniProtKB: Q9C0J1 (UniProtKB/Swiss-Prot),   Q8WY02 (UniProtKB/Swiss-Prot),   Q8WWR5 (UniProtKB/Swiss-Prot),   Q8ND21 (UniProtKB/Swiss-Prot),   Q8N934 (UniProtKB/Swiss-Prot),   Q8N5W4 (UniProtKB/Swiss-Prot),   Q96QH5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001317421   ⟸   NM_001330492
- Peptide Label: isoform 2
- UniProtKB: Q9C0J1 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000438840   ⟸   ENST00000546192
Ensembl Acc Id: ENSP00000319636   ⟸   ENST00000324189
Ensembl Acc Id: ENSP00000444534   ⟸   ENST00000535274
Ensembl Acc Id: ENSP00000493771   ⟸   ENST00000537991
RefSeq Acc Id: XP_047285491   ⟸   XM_047429535
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054229181   ⟸   XM_054373206
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054229180   ⟸   XM_054373205
- Peptide Label: isoform X2
- UniProtKB: Q9C0J1 (UniProtKB/Swiss-Prot),   Q8WY02 (UniProtKB/Swiss-Prot),   Q8WWR5 (UniProtKB/Swiss-Prot),   Q8ND21 (UniProtKB/Swiss-Prot),   Q8N934 (UniProtKB/Swiss-Prot),   Q8N5W4 (UniProtKB/Swiss-Prot),   Q96QH5 (UniProtKB/Swiss-Prot)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9C0J1-F1-model_v2 AlphaFold Q9C0J1 1-378 view protein structure

Promoters
RGD ID:6789695
Promoter ID:HG_KWN:16900
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562
Transcripts:ENST00000324189,   UC001UBY.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3612121,253,826 - 121,254,326 (+)MPROMDB
RGD ID:6810220
Promoter ID:HG_ACW:19456
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:B3GNT4.AAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 3612121,254,476 - 121,254,976 (+)MPROMDB
RGD ID:7225701
Promoter ID:EPDNEW_H18597
Type:initiation region
Name:B3GNT4_1
Description:UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812122,203,471 - 122,203,531EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:15683 AgrOrtholog
COSMIC B3GNT4 COSMIC
Ensembl Genes ENSG00000176383 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000324189 ENTREZGENE
  ENST00000324189.5 UniProtKB/Swiss-Prot
  ENST00000535274 ENTREZGENE
  ENST00000535274.1 UniProtKB/Swiss-Prot
  ENST00000537991.1 UniProtKB/TrEMBL
  ENST00000546192 ENTREZGENE
  ENST00000546192.1 UniProtKB/Swiss-Prot
Gene3D-CATH 3.90.550.50 UniProtKB/Swiss-Prot
GTEx ENSG00000176383 GTEx
HGNC ID HGNC:15683 ENTREZGENE
Human Proteome Map B3GNT4 Human Proteome Map
InterPro Glyco_trans_31 UniProtKB/Swiss-Prot
KEGG Report hsa:79369 UniProtKB/Swiss-Prot
NCBI Gene 79369 ENTREZGENE
OMIM 605864 OMIM
PANTHER N-ACETYLLACTOSAMINIDE BETA-1,3-N-ACETYLGLUCOSAMINYLTRANSFERASE 4 UniProtKB/Swiss-Prot
  PTHR11214 UniProtKB/Swiss-Prot
Pfam Galactosyl_T UniProtKB/Swiss-Prot
PharmGKB PA25220 PharmGKB
UniProt A0A2R8YCM2_HUMAN UniProtKB/TrEMBL
  B3GN4_HUMAN UniProtKB/Swiss-Prot
  Q8N5W4 ENTREZGENE
  Q8N934 ENTREZGENE
  Q8ND21 ENTREZGENE
  Q8WWR5 ENTREZGENE
  Q8WY02 ENTREZGENE
  Q96QH5 ENTREZGENE
  Q9C0J1 ENTREZGENE
UniProt Secondary Q8N5W4 UniProtKB/Swiss-Prot
  Q8N934 UniProtKB/Swiss-Prot
  Q8ND21 UniProtKB/Swiss-Prot
  Q8WWR5 UniProtKB/Swiss-Prot
  Q8WY02 UniProtKB/Swiss-Prot
  Q96QH5 UniProtKB/Swiss-Prot