B3GALT4 (beta-1,3-galactosyltransferase 4)

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Gene: B3GALT4 (beta-1,3-galactosyltransferase 4) Homo sapiens

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Symbol:

B3GALT4

Name:

beta-1,3-galactosyltransferase 4

RGD ID:

1343637

HGNC Page

HGNC:919

Description:

Enables UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity. Involved in ganglioside 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:

b3Gal-T4; beta-1,3-GalTase 4; beta-3-galactosyltransferase 4; BETA3GALT4; gal-T2; GALT2; GALT4; ganglioside galactosyltransferase; UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase 4; UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4; UDP-galactose:beta-N-acetyl-galactosamine-beta-1,3-galactosyltransferase

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	6	33,277,123 - 33,278,825 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	6	33,277,123 - 33,284,832 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	6	33,244,900 - 33,246,602 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	6	33,352,895 - 33,354,580 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	6	33,352,894 - 33,354,580	NCBI
Celera	6	34,799,275 - 34,800,960 (+)	NCBI		Celera
Cytogenetic Map	6	p21.32	NCBI
HuRef	6	32,986,574 - 32,988,259 (+)	NCBI		HuRef
CHM1_1	6	33,246,853 - 33,248,538 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	6	33,098,485 - 33,100,187 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

autosomal dominant intellectual developmental disorder 5 (IAGP)

MHC class I deficiency (IAGP)

proteasome-associated autoinflammatory syndrome 1 (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(+)-schisandrin B (ISO)

(S)-amphetamine (ISO)

1,2,4-trimethylbenzene (ISO)

2,3,7,8-tetrachlorodibenzodioxine (EXP,ISO)

2,4-dinitrotoluene (ISO)

3-isobutyl-1-methyl-7H-xanthine (EXP)

4,4'-sulfonyldiphenol (ISO)

all-trans-retinoic acid (EXP)

ammonium chloride (ISO)

aristolochic acid A (EXP)

benzalkonium chloride (EXP)

benzo[a]pyrene (EXP)

bisphenol A (EXP,ISO)

bisphenol F (EXP)

butanal (EXP)

cadmium dichloride (ISO)

calcitriol (EXP)

choline (ISO)

cisplatin (EXP)

cobalt dichloride (ISO)

cypermethrin (ISO)

deoxynivalenol (EXP)

dexamethasone (EXP)

Dibutyl phosphate (EXP)

folic acid (ISO)

fulvestrant (EXP)

heptanal (EXP)

hexanal (EXP)

indometacin (EXP)

L-methionine (ISO)

methamphetamine (ISO)

naphthalenes (ISO)

nitrogen dioxide (EXP)

octanal (EXP)

paracetamol (EXP)

pentanal (EXP)

propanal (EXP)

SCH 23390 (ISO)

silicon dioxide (EXP)

Soman (ISO)

succimer (ISO)

sulforaphane (EXP)

sunitinib (EXP)

testosterone (EXP)

tetrachloromethane (ISO)

thioacetamide (ISO)

titanium dioxide (ISO)

trichloroethene (ISO)

tungsten (ISO)

undecane (ISO)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

carbohydrate derivative biosynthetic process (IEA)

ganglioside biosynthetic process (IDA)

glycosphingolipid biosynthetic process (TAS)

lipid metabolic process (IEA)

oligosaccharide biosynthetic process (TAS)

protein glycosylation (IEA)

protein O-linked glycosylation (IBA)

Cellular Component

Golgi apparatus (IEA)

Golgi membrane (IBA,IEA,TAS)

membrane (IEA)

Molecular Function

ganglioside galactosyltransferase activity (IEA)

glycosyltransferase activity (IEA)

hexosyltransferase activity (IEA)

N-acetyl-beta-D-glucosaminide beta-(1,3)-galactosyltransferase activity (IBA,IDA,TAS)

Molecular Pathway Annotations Click to see Annotation Detail View

ganglioside metabolic pathway (IEA)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	KEGG Annotation Import Pipeline	Pipeline to import KEGG annotations from KEGG into RGD
3.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:2187500	PMID:2541446	PMID:2542563	PMID:2649653	PMID:2829950	PMID:8889548	PMID:9582303	PMID:10580128	PMID:10663566	PMID:12477932	PMID:14574404	PMID:15489334
PMID:16169070	PMID:16303743	PMID:18193043	PMID:18565761	PMID:19225246	PMID:19851445	PMID:20594196	PMID:21519903	PMID:21873635	PMID:21900206	PMID:21988832	PMID:27229929
PMID:30131660	PMID:30372681	PMID:30611881	PMID:33961781

Genomics

Comparative Map Data

B3GALT4
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	6	33,277,123 - 33,278,825 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	6	33,277,123 - 33,284,832 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	6	33,244,900 - 33,246,602 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	6	33,352,895 - 33,354,580 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	6	33,352,894 - 33,354,580	NCBI
Celera	6	34,799,275 - 34,800,960 (+)	NCBI		Celera
Cytogenetic Map	6	p21.32	NCBI
HuRef	6	32,986,574 - 32,988,259 (+)	NCBI		HuRef
CHM1_1	6	33,246,853 - 33,248,538 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	6	33,098,485 - 33,100,187 (+)	NCBI		T2T-CHM13v2.0

B3galt4
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	17	34,168,886 - 34,170,462 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	17	34,168,883 - 34,170,462 (-)	Ensembl		GRCm39 Ensembl
GRCm38	17	33,949,912 - 33,951,488 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	17	33,949,909 - 33,951,488 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	17	34,086,857 - 34,088,433 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	17	33,560,366 - 33,561,933 (-)	NCBI		MGSCv36	mm8
Celera	17	36,702,811 - 36,704,369 (-)	NCBI		Celera
Cytogenetic Map	17	B1	NCBI
cM Map	17	17.98	NCBI

B3galt4
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	20	4,937,974 - 4,939,549 (+)	NCBI		GRCr8
mRatBN7.2	20	4,936,089 - 4,937,664 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	20	4,931,768 - 4,938,315 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	20	5,659,611 - 5,661,186 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	20	5,021,356 - 5,022,931 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	20	5,502,143 - 5,503,718 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	20	5,446,104 - 5,447,679 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	20	5,446,104 - 5,447,673 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	20	7,504,716 - 7,506,291 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	20	5,087,855 - 5,089,430 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	20	5,088,110 - 5,089,652 (+)	NCBI
Celera	20	6,520,332 - 6,521,907 (+)	NCBI		Celera
Cytogenetic Map	20	p12	NCBI

B3galt4
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0	NW_004955437	1,839,707 - 1,840,516 (+)	NCBI	ChiLan1.0	ChiLan1.0

B3GALT4
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	5	47,754,827 - 47,756,660 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	6	43,626,600 - 43,628,327 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	6	32,849,358 - 32,857,140 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	6	33,963,517 - 33,965,245 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	6	33,962,718 - 33,964,976 (+)	Ensembl	panpan1.1		panPan2

B3GALT4
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	12	2,719,112 - 2,720,997 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
Dog10K_Boxer_Tasha	12	2,800,237 - 2,801,914 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	12	3,050,290 - 3,052,173 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	12	3,050,496 - 3,052,173 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	12	2,717,968 - 2,719,645 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	12	2,799,458 - 2,801,135 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	12	2,874,152 - 2,875,829 (+)	NCBI		UU_Cfam_GSD_1.0

B3galt4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024404946	38,370,698 - 38,372,943 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936476	25,587,592 - 25,588,763 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936476	25,587,328 - 25,589,081 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

B3GALT4
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	7	29,643,182 - 29,648,604 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	7	29,643,049 - 29,644,847 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	7	34,146,939 - 34,148,611 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

B3GALT4
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	17	38,798,224 - 38,799,910 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	17	38,798,496 - 38,799,644 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666044	33,112,105 - 33,119,151 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

B3galt4
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla 1.0	NW_004624754	23,542,500 - 23,543,855 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in B3GALT4
17 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	copy number gain	See cases [RCV000143497]	Chr6:156974..46789291 [GRCh38] Chr6:156974..46757028 [GRCh37] Chr6:101974..46864987 [NCBI36] Chr6:6p25.3-12.3	pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	copy number gain	See cases [RCV000512067]	Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	copy number gain	See cases [RCV000510595]	Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27	pathogenic
NM_003782.4(B3GALT4):c.84G>C (p.Leu28Phe)	single nucleotide variant	not specified [RCV004318653]	Chr6:33277503 [GRCh38] Chr6:33245280 [GRCh37] Chr6:6p21.32	likely benign
NC_000006.11:g.(?_33131435)_(33419703_?)dup	duplication	Intellectual disability, autosomal dominant 5 [RCV000817954]	Chr6:33163658..33451926 [GRCh38] Chr6:33131435..33419703 [GRCh37] Chr6:6p21.32	uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3	copy number gain	not provided [RCV000745403]	Chr6:108666..170980171 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3	copy number gain	not provided [RCV000745400]	Chr6:60107..171054786 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3	copy number gain	not provided [RCV000745404]	Chr6:165632..170919470 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	copy number gain	not provided [RCV000767714]	Chr6:29455465..81447367 [GRCh37] Chr6:6p22.1-q14.1	pathogenic
NC_000006.12:g.(?_33173681)_(33451926_?)dup	duplication	Intellectual disability, autosomal dominant 5 [RCV001032258]	Chr6:33141458..33419703 [GRCh37] Chr6:6p21.32	uncertain significance
GRCh37/hg19 6p21.33-21.31(chr6:31036397-34088832)x3	copy number gain	not provided [RCV001005791]	Chr6:31036397..34088832 [GRCh37] Chr6:6p21.33-21.31	likely pathogenic
GRCh37/hg19 6p21.32-21.31(chr6:33069892-33751391)	copy number gain	not specified [RCV002053566]	Chr6:33069892..33751391 [GRCh37] Chr6:6p21.32-21.31	uncertain significance
NC_000006.11:g.(?_30695893)_(36953949_?)dup	duplication	Proteasome-associated autoinflammatory syndrome 1 [RCV003113679]	Chr6:30695893..36953949 [GRCh37] Chr6:6p21.33-21.2	uncertain significance
NM_003782.4(B3GALT4):c.622G>A (p.Glu208Lys)	single nucleotide variant	not specified [RCV004120603]	Chr6:33278041 [GRCh38] Chr6:33245818 [GRCh37] Chr6:6p21.32	likely benign
NM_003782.4(B3GALT4):c.127G>A (p.Ala43Thr)	single nucleotide variant	not specified [RCV004161603]	Chr6:33277546 [GRCh38] Chr6:33245323 [GRCh37] Chr6:6p21.32	uncertain significance
NM_003782.4(B3GALT4):c.1106G>T (p.Arg369Leu)	single nucleotide variant	not specified [RCV004200587]	Chr6:33278525 [GRCh38] Chr6:33246302 [GRCh37] Chr6:6p21.32	uncertain significance
NM_003782.4(B3GALT4):c.1043G>C (p.Gly348Ala)	single nucleotide variant	not specified [RCV004106342]	Chr6:33278462 [GRCh38] Chr6:33246239 [GRCh37] Chr6:6p21.32	uncertain significance
NM_003782.4(B3GALT4):c.614C>T (p.Pro205Leu)	single nucleotide variant	not specified [RCV004158662]	Chr6:33278033 [GRCh38] Chr6:33245810 [GRCh37] Chr6:6p21.32	uncertain significance
NM_003782.4(B3GALT4):c.286G>A (p.Gly96Arg)	single nucleotide variant	not specified [RCV004168083]	Chr6:33277705 [GRCh38] Chr6:33245482 [GRCh37] Chr6:6p21.32	likely benign
NM_003782.4(B3GALT4):c.719C>T (p.Pro240Leu)	single nucleotide variant	not specified [RCV004074988]	Chr6:33278138 [GRCh38] Chr6:33245915 [GRCh37] Chr6:6p21.32	uncertain significance
NC_000006.11:g.(?_32148920)_(36953949_?)dup	duplication	not provided [RCV003154914]	Chr6:32148920..36953949 [GRCh37] Chr6:6p21.32-21.2	uncertain significance
NM_003782.4(B3GALT4):c.596G>C (p.Trp199Ser)	single nucleotide variant	not specified [RCV004259219]	Chr6:33278015 [GRCh38] Chr6:33245792 [GRCh37] Chr6:6p21.32	uncertain significance
NM_003782.4(B3GALT4):c.481G>T (p.Ala161Ser)	single nucleotide variant	not specified [RCV004285096]	Chr6:33277900 [GRCh38] Chr6:33245677 [GRCh37] Chr6:6p21.32	uncertain significance
NM_003782.4(B3GALT4):c.128C>T (p.Ala43Val)	single nucleotide variant	not specified [RCV004275915]	Chr6:33277547 [GRCh38] Chr6:33245324 [GRCh37] Chr6:6p21.32	uncertain significance
NM_003782.4(B3GALT4):c.616C>A (p.Gln206Lys)	single nucleotide variant	not specified [RCV004270799]	Chr6:33278035 [GRCh38] Chr6:33245812 [GRCh37] Chr6:6p21.32	uncertain significance
NM_003782.4(B3GALT4):c.431A>G (p.Gln144Arg)	single nucleotide variant	not specified [RCV004352628]	Chr6:33277850 [GRCh38] Chr6:33245627 [GRCh37] Chr6:6p21.32	likely benign
NM_003782.4(B3GALT4):c.847C>T (p.Arg283Trp)	single nucleotide variant	not specified [RCV004423445]	Chr6:33278266 [GRCh38] Chr6:33246043 [GRCh37] Chr6:6p21.32	uncertain significance
NM_003782.4(B3GALT4):c.907C>T (p.Leu303Phe)	single nucleotide variant	not specified [RCV004423446]	Chr6:33278326 [GRCh38] Chr6:33246103 [GRCh37] Chr6:6p21.32	uncertain significance
NM_003782.4(B3GALT4):c.193A>G (p.Ser65Gly)	single nucleotide variant	not specified [RCV004423444]	Chr6:33277612 [GRCh38] Chr6:33245389 [GRCh37] Chr6:6p21.32	likely benign
NM_003782.4(B3GALT4):c.661G>A (p.Glu221Lys)	single nucleotide variant	not specified [RCV004599745]	Chr6:33278080 [GRCh38] Chr6:33245857 [GRCh37] Chr6:6p21.32	uncertain significance
NC_000006.11:g.(?_33131455)_(33388128_?)dup	duplication	MHC class I deficiency [RCV004578657]	Chr6:33131455..33388128 [GRCh37] Chr6:6p21.32	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	394
Count of miRNA genes:	350
Interacting mature miRNAs:	374
Transcripts:	ENST00000451237, ENST00000606990
Prediction methods:	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 (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
1358839	MULTSCL5_H	Multiple sclerosis susceptibility QTL 5 (human)			Multiple sclerosis susceptibility		6	19584311	45584311	Human
1298431	RA11_H	Rheumatoid arthritis QTL 11 (human)		0.0000024	Joint/bone inflammation	rheumatoid arthritis	6	19911883	40191709	Human
407124136	GWAS773112_H	smoking status measurement QTL GWAS773112 (human)		1e-09	smoking status measurement		6	33278741	33278742	Human
1358857	MULTSCL19_H	Multiple sclerosis susceptibility QTL 19 (human)			Multiple sclerosis susceptibility		6	19584311	45584311	Human

Markers in Region

RH12532

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	33,246,353 - 33,246,520	UniSTS	GRCh37
Build 36	6	33,354,331 - 33,354,498	RGD	NCBI36
Celera	6	34,800,711 - 34,800,878	RGD
Cytogenetic Map	6	p21.3	UniSTS
HuRef	6	32,988,010 - 32,988,177	UniSTS
GeneMap99-GB4 RH Map	6	119.82	UniSTS

RH77

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	33,243,915 - 33,244,040	UniSTS	GRCh37
Build 36	6	33,351,893 - 33,352,018	RGD	NCBI36
Celera	6	34,798,273 - 34,798,398	RGD
Cytogenetic Map	6	p21.3	UniSTS
HuRef	6	32,985,572 - 32,985,697	UniSTS

G43302

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	33,246,416 - 33,246,602	UniSTS	GRCh37
Build 36	6	33,354,394 - 33,354,580	RGD	NCBI36
Celera	6	34,800,774 - 34,800,960	RGD
Cytogenetic Map	6	p21.3	UniSTS
HuRef	6	32,988,073 - 32,988,259	UniSTS

RH12439

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	33,246,903 - 33,247,080	UniSTS	GRCh37
Build 36	6	33,354,881 - 33,355,058	RGD	NCBI36
Celera	6	34,801,261 - 34,801,438	RGD
Cytogenetic Map	6	p21.3	UniSTS
HuRef	6	32,988,560 - 32,988,737	UniSTS
GeneMap99-GB4 RH Map	6	120.03	UniSTS
NCBI RH Map	6	509.1	UniSTS

Expression

RNA-SEQ Expression

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

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
1204	2434	2788	2250	4954	1719	2339	5	619	1942	461	2266	7276	6454	46	3719	847	1738	1608	174	1

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_003782	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB022537	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AB026730	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF063595	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK075312	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK315647	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL031228	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL662820	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL662827	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL844527	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC032574	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BU740293	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471081	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068272	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CR457093	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CR759786	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CR759817	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	FJ525877	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KY500161	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KY500162	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	Y15061	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000451237 ⟹ ENSP00000390784

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	33,277,123 - 33,278,825 (+)	Ensembl

Ensembl Acc Id:

ENST00000606990

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	33,278,688 - 33,284,832 (+)	Ensembl

RefSeq Acc Id:

NM_003782 ⟹ NP_003773

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	33,277,123 - 33,278,825 (+)	NCBI
GRCh37	6	33,244,917 - 33,246,602 (+)	RGD
Build 36	6	33,352,895 - 33,354,580 (+)	NCBI Archive
Celera	6	34,799,275 - 34,800,960 (+)	RGD
HuRef	6	32,986,574 - 32,988,259 (+)	RGD
CHM1_1	6	33,246,853 - 33,248,538 (+)	NCBI
T2T-CHM13v2.0	6	33,098,485 - 33,100,187 (+)	NCBI

Sequence:

show sequence

AGACCGGCCGCCGGGGCGAGGCGGGGGAGGGGCCGTGAGTGCCGCAGTCGGCCAGCCATGGAGC
GGAGCTTGCTGGCGGCGAGGCCGCGGCGACAAGGTAGCCACCCCCGCAGCATGCCTCGACCGCG
GTCCGCAGCTGCACCGCCTCTCCCCGCCCCCCAGGGTGCGCTGGTCCCGGTCGCGCGCTCAGAC
CTCCGCATCCCGGGCGTGGTCGGTTAAGTCCCCGGCCGTGACCCAGGCCCGGGGAGCTAGTCTC
CGCCCTTCGCTCTTACGGATCCCCTCGGAGTACGCCGCACCATGCAGCTCAGGCTCTTCCGGCG
CCTCCTTCTCGCCGCTTTGCTGCTGGTGATCGTCTGGACCCTCTTCGGGCCTTCGGGGTTGGGG
GAGGAGCTGCTGAGCCTCTCACTAGCCTCCCTGCTCCCAGCCCCCGCCTCACCGGGGCCGCCCC
TGGCCCTGCCCCGCCTCTTGATCCCCAACCAGGAAGCTTGCAGTGGTCCCGGGGCCCCTCCCTT
CCTGCTCATCCTGGTGTGCACGGCTCCGGAGAACCTGAACCAGAGAAACGCCATTCGGGCTTCG
TGGGGCGGGCTGCGCGAGGCCCGGGGGCTCAGGGTACAGACGCTATTCTTGCTGGGAGAGCCGA
ACGCACAGCACCCCGTGTGGGGTTCCCAGGGGAGTGACCTGGCCTCGGAGTCAGCAGCCCAGGG
GGATATCTTGCAGGCCGCCTTCCAGGACTCCTACCGCAACCTCACCCTAAAGACCCTCAGCGGG
CTGAACTGGGCTGAGAAACACTGCCCCATGGCCCGATACGTCCTCAAGACGGACGATGATGTGT
ATGTCAACGTCCCTGAACTGGTATCAGAGCTGGTCTTGCGAGGGGGCCGTTGGGGGCAATGGGA
GAGAAGCACGGAACCCCAGAGAGAGGCTGAGCAGGAAGGAGGCCAGGTTTTGCACAGCGAGGAA
GTGCCTCTTCTGTACTTGGGCCGGGTGCACTGGCGCGTGAACCCCTCTCGGACACCGGGGGGCA
GGCACCGCGTATCAGAGGAGCAGTGGCCTCACACCTGGGGCCCCTTTCCACCCTATGCCTCAGG
CACGGGGTATGTGCTGTCAGCGTCTGCTGTGCAGCTCATTCTCAAGGTGGCCAGCCGGGCACCC
CTTCTCCCATTAGAGGATGTCTTTGTGGGGGTAAGTGCCCGACGAGGAGGCCTCGCCCCAACAC
AGTGTGTCAAGCTGGCTGGTGCCACCCACTACCCGCTAGACCGGTGCTGCTATGGGAAATTCCT
GCTGACGTCCCACAGGCTGGACCCCTGGAAGATGCAGGAAGCCTGGAAGCTGGTGGGTGGCTCT
GACGGGGAAAGGACTGCGCCCTTTTGCTCCTGGTTCCAGGGAGTCCTGGGCATCCTGCGGTGTC
GAGCAATAGCCTGGCTTCAGAGCTGAGAGTGCCTGGGGCCACAGGAAAGGCAGGAACAGGACCT
TCTCTCTCCCAGGCCCAACGCAGGGGCCCTCACTGGCTGCAGCTGATCTGTTTCCTTATACCAG
ATCCTCAGTCTCACTAAAGACAGCGATATGGGAGACACCCAGGGGCCTGGCCCGCCAGCCCAAA
AGATGGTCATCGGGAAGAGAAAAAGAAAAAAATGCTGCAGTTGTTCTCTCAAGCTAGGGCAGAA
GAGGGGTGTCAAGCTCCTCAATAAACTTGTCTCCACTTC

hide sequence

Protein Sequences


Protein RefSeqs	NP_003773	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAG43154	(Get FASTA)	NCBI Sequence Viewer
	AAH32574	(Get FASTA)	NCBI Sequence Viewer
	ACN81315	(Get FASTA)	NCBI Sequence Viewer
	AQY76665	(Get FASTA)	NCBI Sequence Viewer
	AQY76666	(Get FASTA)	NCBI Sequence Viewer
	BAA88988	(Get FASTA)	NCBI Sequence Viewer
	BAG38014	(Get FASTA)	NCBI Sequence Viewer
	BAG52107	(Get FASTA)	NCBI Sequence Viewer
	CAA20230	(Get FASTA)	NCBI Sequence Viewer
	CAA75345	(Get FASTA)	NCBI Sequence Viewer
	CAG33374	(Get FASTA)	NCBI Sequence Viewer
	EAX03700	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000372696.5
	ENSP00000390784
	ENSP00000390784.1
	ENSP00000394876.3
	ENSP00000398660.3
	ENSP00000414880.3
GenBank Protein	O96024	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_003773 ⟸ NM_003782
- Peptide Label:	precursor
- UniProtKB:	O96024 (UniProtKB/Swiss-Prot), B3KQP5 (UniProtKB/TrEMBL), Q5STJ7 (UniProtKB/TrEMBL)
- Sequence:	show sequence MQLRLFRRLLLAALLLVIVWTLFGPSGLGEELLSLSLASLLPAPASPGPPLALPRLLIPNQEAC SGPGAPPFLLILVCTAPENLNQRNAIRASWGGLREARGLRVQTLFLLGEPNAQHPVWGSQGSDL ASESAAQGDILQAAFQDSYRNLTLKTLSGLNWAEKHCPMARYVLKTDDDVYVNVPELVSELVLR GGRWGQWERSTEPQREAEQEGGQVLHSEEVPLLYLGRVHWRVNPSRTPGGRHRVSEEQWPHTWG PFPPYASGTGYVLSASAVQLILKVASRAPLLPLEDVFVGVSARRGGLAPTQCVKLAGATHYPLD RCCYGKFLLTSHRLDPWKMQEAWKLVGGSDGERTAPFCSWFQGVLGILRCRAIAWLQS hide sequence

Ensembl Acc Id:

ENSP00000390784 ⟸ ENST00000451237

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-O96024-F1-model_v2	AlphaFold	O96024	1-378	view protein structure

Promoters

RGD ID:

6803773

Promoter ID:

HG_KWN:53185

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4

Transcripts:

OTTHUMT00000076162

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	6	33,351,951 - 33,354,022 (+)	MPROMDB

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:919	AgrOrtholog
COSMIC	B3GALT4	COSMIC
Ensembl Genes	ENSG00000206285	UniProtKB/Swiss-Prot
	ENSG00000226936	UniProtKB/Swiss-Prot
	ENSG00000235155	UniProtKB/Swiss-Prot
	ENSG00000235863	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
	ENSG00000236802	UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000383209.6	UniProtKB/Swiss-Prot
	ENST00000415322.4	UniProtKB/Swiss-Prot
	ENST00000419471.4	UniProtKB/Swiss-Prot
	ENST00000430971.4	UniProtKB/Swiss-Prot
	ENST00000451237	ENTREZGENE
	ENST00000451237.3	UniProtKB/Swiss-Prot
Gene3D-CATH	3.90.550.50	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000206285	GTEx
	ENSG00000226936	GTEx
	ENSG00000235155	GTEx
	ENSG00000235863	GTEx
	ENSG00000236802	GTEx
HGNC ID	HGNC:919	ENTREZGENE
Human Proteome Map	B3GALT4	Human Proteome Map
InterPro	Glyco_trans_31	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:8705	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene	8705	ENTREZGENE
OMIM	603095	OMIM
PANTHER	BETA-1,3-GALACTOSYLTRANSFERASE 4	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PTHR11214	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	Galactosyl_T	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA25212	PharmGKB
UniProt	B3GT4_HUMAN	UniProtKB/Swiss-Prot
	B3KQP5	ENTREZGENE, UniProtKB/TrEMBL
	O96024	ENTREZGENE
	Q5STJ7	ENTREZGENE, UniProtKB/TrEMBL

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-05-03	B3GALT4	beta-1,3-galactosyltransferase 4	B3GALT4	Beta-1,3-galactosyltransferase 4	Symbol and/or name change	5135510	APPROVED
2015-12-01	B3GALT4	Beta-1,3-galactosyltransferase 4	B3GALT4	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Annotations - KEGG (archival)

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Imported Disease Annotations - ClinVar

Imported Annotations - KEGG (archival)