GCNT7 (glucosaminyl (N-acetyl) transferase family member 7)

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Gene: GCNT7 (glucosaminyl (N-acetyl) transferase family member 7) Homo sapiens

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Symbol:

GCNT7

Name:

glucosaminyl (N-acetyl) transferase family member 7

RGD ID:

1354424

HGNC Page

HGNC:16099

Description:

Predicted to enable acetylglucosaminyltransferase activity. Predicted to be involved in protein glycosylation. Predicted to be located in Golgi membrane.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

beta 1,6-N-acetylglucosaminyltransferase; beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 7; C20orf105; chromosome 20 open reading frame 105; dJ1153D9.2; gcnt

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

NCBI Annotation Information:

Annotation category: suggests misassembly; Note: Genetic polymorphisms result in both protein coding and non-coding alleles of this gene.

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	20	56,491,492 - 56,525,925 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	20	56,491,492 - 56,525,925 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	20	55,066,548 - 55,100,981 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	20	54,499,955 - 54,534,613 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	20	51,806,975 - 51,841,413 (-)	NCBI		Celera
Cytogenetic Map	20	q13.31	NCBI
HuRef	20	51,851,237 - 51,885,668 (-)	NCBI		HuRef
CHM1_1	20	54,967,671 - 55,002,093 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	20	58,268,986 - 58,303,419 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(+)-catechin (EXP)

1,2-dichloroethane (ISO)

aflatoxin B1 (EXP)

benzo[a]pyrene (EXP)

benzo[e]pyrene (EXP)

bisphenol A (EXP)

Dibutyl phosphate (EXP)

dibutyl phthalate (ISO)

dichloroacetic acid (ISO)

methapyrilene (EXP)

paracetamol (EXP)

silicon dioxide (ISO)

trichloroethene (ISO)

triphenyl phosphate (EXP)

vinclozolin (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

protein glycosylation (IEA)

Cellular Component

Golgi apparatus (IEA)

Golgi membrane (IEA)

membrane (IEA)

Molecular Function

acetylglucosaminyltransferase activity (IBA)

glycosyltransferase activity (IEA)

References

References - curated

#	Reference Title	Reference Citation
1.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:21873635	PMID:25130324	PMID:25367360	PMID:34857952

Genomics

Comparative Map Data

GCNT7
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	20	56,491,492 - 56,525,925 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	20	56,491,492 - 56,525,925 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	20	55,066,548 - 55,100,981 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	20	54,499,955 - 54,534,613 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	20	51,806,975 - 51,841,413 (-)	NCBI		Celera
Cytogenetic Map	20	q13.31	NCBI
HuRef	20	51,851,237 - 51,885,668 (-)	NCBI		HuRef
CHM1_1	20	54,967,671 - 55,002,093 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	20	58,268,986 - 58,303,419 (-)	NCBI		T2T-CHM13v2.0

Gcnt7
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	2	172,292,233 - 172,302,481 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	2	172,292,233 - 172,300,516 (-)	Ensembl		GRCm39 Ensembl
GRCm38	2	172,450,242 - 172,458,596 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	2	172,450,313 - 172,458,596 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	2	172,275,813 - 172,284,096 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	2	172,141,518 - 172,149,801 (-)	NCBI		MGSCv36	mm8
Celera	2	178,412,133 - 178,420,480 (-)	NCBI		Celera
Cytogenetic Map	2	H3	NCBI
cM Map	2	94.87	NCBI

Gcnt7
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	3	181,637,406 - 181,647,839 (-)	NCBI		GRCr8
mRatBN7.2	3	161,218,985 - 161,223,039 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	3	161,211,853 - 161,227,230 (-)	Ensembl		mRatBN7.2 Ensembl
Rnor_6.0	3	170,454,758 - 170,464,047 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	3	170,455,492 - 170,458,676 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	3	176,530,184 - 176,534,274 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
Celera	3	160,419,002 - 160,428,279 (-)	NCBI		Celera
Cytogenetic Map	3	q42	NCBI

Gcnt7
(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 Ensembl	NW_004955445	2,744,200 - 2,749,317 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955445	2,737,228 - 2,750,104 (+)	NCBI	ChiLan1.0	ChiLan1.0

LOC100977271
(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	21	62,241,378 - 62,255,431 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	20	62,233,435 - 62,240,722 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	20	52,831,929 - 52,838,906 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	20	54,119,847 - 54,125,908 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	20	54,119,847 - 54,125,908 (-)	Ensembl	panpan1.1		panPan2

LOC102156144
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	24	41,682,401 - 41,710,602 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	24	41,684,750 - 41,696,031 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	24	40,929,945 - 40,958,137 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	24	42,445,196 - 42,473,366 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	24	42,446,142 - 42,458,884 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	24	41,632,674 - 41,660,855 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	24	41,771,806 - 41,800,120 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	24	42,429,996 - 42,458,404 (-)	NCBI		UU_Cfam_GSD_1.0

LOC101955949
(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_024408640	183,692,321 - 183,698,924 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936875	387,034 - 393,637 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936875	387,034 - 394,345 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

GCNT7
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	17	57,061,805 - 57,068,505 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	17	57,061,805 - 57,074,637 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	17	64,172,717 - 64,187,264 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

LOC103243819
(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	2	7,621,135 - 7,627,120 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	2	7,620,626 - 7,626,696 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666050	55,661,014 - 55,700,929 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Variants

Variants in GCNT7
18 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	copy number gain	See cases [RCV000053035]	Chr20:44787704..64277321 [GRCh38] Chr20:43416345..62908674 [GRCh37] Chr20:42849759..62379118 [NCBI36] Chr20:20q13.12-13.33	pathogenic
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	copy number gain	See cases [RCV000135859]	Chr20:99557..64277321 [GRCh38] Chr20:80198..62908674 [GRCh37] Chr20:28198..62379118 [NCBI36] Chr20:20p13-q13.33	pathogenic
GRCh38/hg38 20q13.2-13.33(chr20:55630597-60941207)x3	copy number gain	See cases [RCV000135622]	Chr20:55630597..60941207 [GRCh38] Chr20:54220678..59516263 [GRCh37] Chr20:53639062..58949658 [NCBI36] Chr20:20q13.2-13.33	likely pathogenic
GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3	copy number gain	See cases [RCV000138035]	Chr20:56198032..64277321 [GRCh38] Chr20:54773088..62908674 [GRCh37] Chr20:54206495..62379118 [NCBI36] Chr20:20q13.2-13.33	pathogenic
GRCh38/hg38 20q13.2-13.32(chr20:54594888-58190583)x1	copy number loss	See cases [RCV000141033]	Chr20:54594888..58190583 [GRCh38] Chr20:53211427..56765639 [GRCh37] Chr20:52644834..56199045 [NCBI36] Chr20:20q13.2-13.32	pathogenic
GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3	copy number gain	See cases [RCV000143584]	Chr20:53236165..64284202 [GRCh38] Chr20:51852704..62915555 [GRCh37] Chr20:51286111..62385999 [NCBI36] Chr20:20q13.2-13.33	likely pathogenic
GRCh37/hg19 20q13.2-13.33(chr20:51542616-62915555)x3	copy number gain	See cases [RCV000511980]	Chr20:51542616..62915555 [GRCh37] Chr20:20q13.2-13.33	likely pathogenic
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	copy number gain	See cases [RCV000510832]	Chr20:61569..62915555 [GRCh37] Chr20:20p13-q13.33	pathogenic
GRCh37/hg19 20q13.2-13.31(chr20:54541125-55162415)x3	copy number gain	See cases [RCV000511263]	Chr20:54541125..55162415 [GRCh37] Chr20:20q13.2-13.31	uncertain significance
NM_080615.1:c.53G>C	single nucleotide variant	not specified [RCV004312198]		uncertain significance
NM_001012971.4(FAM209A):c.340A>G (p.Asn114Asp)	single nucleotide variant	not specified [RCV004305205]	Chr20:56525894 [GRCh38] Chr20:55100950 [GRCh37] Chr20:20q13.31	uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	copy number gain	See cases [RCV000512450]	Chr20:61569..62915555 [GRCh37] Chr20:20p13-q13.33	pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3	copy number gain	not provided [RCV000741058]	Chr20:63244..62948788 [GRCh37] Chr20:20p13-q13.33	pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3	copy number gain	not provided [RCV000741059]	Chr20:63244..62961294 [GRCh37] Chr20:20p13-q13.33	pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3	copy number gain	not provided [RCV000741057]	Chr20:63244..62912463 [GRCh37] Chr20:20p13-q13.33	pathogenic
NM_080615.1:c.564G>T	single nucleotide variant	not specified [RCV004322251]		uncertain significance
GRCh37/hg19 20q13.2-13.33(chr20:54143747-62194881)	copy number gain	not provided [RCV000767669]	Chr20:54143747..62194881 [GRCh37] Chr20:20q13.2-13.33	pathogenic
NM_080615.1:c.923T>A	single nucleotide variant	not specified [RCV004317266]		uncertain significance
NM_080615.1:c.1235T>C	single nucleotide variant	not specified [RCV004292305]		uncertain significance
NM_080615.1:c.1162A>G	single nucleotide variant	not specified [RCV004332814]		uncertain significance
NM_080615.1:c.801C>G	single nucleotide variant	not specified [RCV004284082]		uncertain significance
GRCh37/hg19 20q13.2-13.33(chr20:51799648-62916626)x3	copy number gain	not provided [RCV001537917]	Chr20:51799648..62916626 [GRCh37] Chr20:20q13.2-13.33	pathogenic
NC_000020.10:g.(?_54823900)_(57899514_?)del	deletion	not provided [RCV001900543]	Chr20:54823900..57899514 [GRCh37] Chr20:20q13.2-13.32	uncertain significance
NM_080615.1:c.658T>C	single nucleotide variant	not specified [RCV004331283]		uncertain significance
GRCh37/hg19 20q13.2-13.31(chr20:52517925-55402822)x3	copy number gain	not provided [RCV002474915]	Chr20:52517925..55402822 [GRCh37] Chr20:20q13.2-13.31	uncertain significance
NM_001012971.4(FAM209A):c.8C>T (p.Thr3Met)	single nucleotide variant	not specified [RCV004246911]	Chr20:56524816 [GRCh38] Chr20:55099872 [GRCh37] Chr20:20q13.31	uncertain significance
NM_001012971.4(FAM209A):c.319C>T (p.Pro107Ser)	single nucleotide variant	not specified [RCV004198476]	Chr20:56525873 [GRCh38] Chr20:55100929 [GRCh37] Chr20:20q13.31	uncertain significance
NM_080615.1:c.1028G>A	single nucleotide variant	not specified [RCV004219829]		uncertain significance
NM_080615.1:c.427G>A	single nucleotide variant	not specified [RCV004241134]		uncertain significance
NM_001012971.4(FAM209A):c.133C>T (p.Arg45Trp)	single nucleotide variant	not specified [RCV004217830]	Chr20:56524941 [GRCh38] Chr20:55099997 [GRCh37] Chr20:20q13.31	uncertain significance
NM_080615.1:c.1016G>C	single nucleotide variant	not specified [RCV004146799]		uncertain significance
NM_080615.1:c.769A>G	single nucleotide variant	not specified [RCV004093300]		uncertain significance
NM_080615.1:c.673T>C	single nucleotide variant	not specified [RCV004102288]		uncertain significance
NM_080615.1:c.185C>T	single nucleotide variant	not specified [RCV004122691]		uncertain significance
NM_080615.1:c.17C>A	single nucleotide variant	not specified [RCV004072144]	Chr20:56497592 [GRCh38] Chr20:20q13.31	uncertain significance
NM_080615.1:c.416G>T	single nucleotide variant	not specified [RCV004128728]		uncertain significance
NM_080615.1:c.1277T>C	single nucleotide variant	not specified [RCV004192584]		uncertain significance
NM_080615.1:c.133T>C	single nucleotide variant	not specified [RCV004224061]		uncertain significance
NM_080615.1:c.1163C>T	single nucleotide variant	not specified [RCV004089801]		uncertain significance
NM_080615.1:c.1174G>A	single nucleotide variant	not specified [RCV004224011]		uncertain significance
NM_080615.1:c.1096G>A	single nucleotide variant	not specified [RCV004084367]		uncertain significance
NM_001012971.4(FAM209A):c.98A>G (p.Gln33Arg)	single nucleotide variant	not specified [RCV004250900]	Chr20:56524906 [GRCh38] Chr20:55099962 [GRCh37] Chr20:20q13.31	uncertain significance
NM_080615.1:c.454A>G	single nucleotide variant	not specified [RCV004269335]		uncertain significance
NM_080615.1:c.367A>G	single nucleotide variant	not specified [RCV004253206]		uncertain significance
NM_080615.1:c.901A>T	single nucleotide variant	not specified [RCV004249814]		uncertain significance
NM_080615.1:c.53G>A	single nucleotide variant	not specified [RCV004279748]		uncertain significance
NM_080615.1:c.356A>C	single nucleotide variant	not specified [RCV004271207]		uncertain significance
GRCh37/hg19 20q13.2-13.33(chr20:52773668-62965020)x3	copy number gain	See cases [RCV003329549]	Chr20:52773668..62965020 [GRCh37] Chr20:20q13.2-13.33	uncertain significance
NM_080615.1:c.925C>T	single nucleotide variant	not specified [RCV004343241]		uncertain significance
NM_016407.5(RTF2):c.814A>G (p.Ser272Gly)	single nucleotide variant	not specified [RCV004342677]	Chr20:56518158 [GRCh38] Chr20:55093214 [GRCh37] Chr20:20q13.31	uncertain significance
NM_001012971.4(FAM209A):c.20C>T (p.Ser7Phe)	single nucleotide variant	not specified [RCV004381176]	Chr20:56524828 [GRCh38] Chr20:55099884 [GRCh37] Chr20:20q13.31	likely benign
NM_016407.5(RTF2):c.808G>A (p.Ala270Thr)	single nucleotide variant	not specified [RCV004454710]	Chr20:56518152 [GRCh38] Chr20:55093208 [GRCh37] Chr20:20q13.31	uncertain significance
NM_016407.5(RTF2):c.502G>A (p.Asp168Asn)	single nucleotide variant	not specified [RCV004454698]	Chr20:56513339 [GRCh38] Chr20:55088395 [GRCh37] Chr20:20q13.31	uncertain significance
NM_016407.5(RTF2):c.726G>C (p.Leu242Phe)	single nucleotide variant	not specified [RCV004454707]	Chr20:56517185 [GRCh38] Chr20:55092241 [GRCh37] Chr20:20q13.31	uncertain significance
NM_080615.1:c.1193G>A	single nucleotide variant	not specified [RCV004387485]		uncertain significance
NM_080615.1:c.605T>C	single nucleotide variant	not specified [RCV004387492]		uncertain significance
NM_080615.1:c.442A>G	single nucleotide variant	not specified [RCV004387491]		uncertain significance
NM_016407.5(RTF2):c.518A>G (p.Asn173Ser)	single nucleotide variant	not specified [RCV004454700]	Chr20:56513355 [GRCh38] Chr20:55088411 [GRCh37] Chr20:20q13.31	uncertain significance
NM_016407.5(RTF2):c.634G>T (p.Asp212Tyr)	single nucleotide variant	not specified [RCV004454703]	Chr20:56516977 [GRCh38] Chr20:55092033 [GRCh37] Chr20:20q13.31	uncertain significance
NM_016407.5(RTF2):c.642T>A (p.Ser214Arg)	single nucleotide variant	not specified [RCV004454704]	Chr20:56516985 [GRCh38] Chr20:55092041 [GRCh37] Chr20:20q13.31	uncertain significance
GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)	copy number gain	20q13.13qter duplication [RCV004555205]	Chr20:50805746..64334135 [GRCh38] Chr20:20q13.13-13.33	pathogenic
NM_080615.1:c.1196G>C	single nucleotide variant	not specified [RCV004387486]		uncertain significance
NM_080615.1:c.194A>G	single nucleotide variant	not specified [RCV004387487]		uncertain significance
NM_016407.5(RTF2):c.605C>T (p.Pro202Leu)	single nucleotide variant	not specified [RCV004454702]	Chr20:56516948 [GRCh38] Chr20:55092004 [GRCh37] Chr20:20q13.31	uncertain significance
NM_080615.1:c.1113G>A	single nucleotide variant	not specified [RCV004387483]		likely benign
NM_016407.5(RTF2):c.541G>A (p.Val181Met)	single nucleotide variant	not specified [RCV004454701]	Chr20:56513378 [GRCh38] Chr20:55088434 [GRCh37] Chr20:20q13.31	uncertain significance
NM_016407.5(RTF2):c.674C>T (p.Thr225Ile)	single nucleotide variant	not specified [RCV004454705]	Chr20:56517133 [GRCh38] Chr20:55092189 [GRCh37] Chr20:20q13.31	uncertain significance
NM_016407.5(RTF2):c.801G>T (p.Arg267Ser)	single nucleotide variant	not specified [RCV004454709]	Chr20:56518145 [GRCh38] Chr20:55093201 [GRCh37] Chr20:20q13.31	uncertain significance
NM_080615.1:c.1034G>T	single nucleotide variant	not specified [RCV004387481]		uncertain significance
NM_080615.1:c.1052A>T	single nucleotide variant	not specified [RCV004387482]		uncertain significance
NM_080615.1:c.1177G>A	single nucleotide variant	not specified [RCV004387484]		uncertain significance
NM_080615.1:c.206T>G	single nucleotide variant	not specified [RCV004387488]		uncertain significance
NM_080615.1:c.242A>T	single nucleotide variant	not specified [RCV004387489]		uncertain significance
NM_080615.1:c.278G>A	single nucleotide variant	not specified [RCV004387490]		likely benign
NM_080615.1:c.164C>T	single nucleotide variant	not specified [RCV004626789]		uncertain significance
NM_080615.1:c.979G>C	single nucleotide variant	not specified [RCV004626788]		uncertain significance
NM_080615.1:c.1078G>A	single nucleotide variant	not specified [RCV004626787]		uncertain significance
NM_080615.1:c.853A>C	single nucleotide variant	not specified [RCV004626785]		uncertain significance
NM_016407.5(RTF2):c.884C>T (p.Ser295Phe)	single nucleotide variant	not specified [RCV004661074]	Chr20:56518228 [GRCh38] Chr20:55093284 [GRCh37] Chr20:20q13.31	uncertain significance
NM_016407.5(RTF2):c.553A>G (p.Arg185Gly)	single nucleotide variant	not specified [RCV004661075]	Chr20:56513390 [GRCh38] Chr20:55088446 [GRCh37] Chr20:20q13.31	uncertain significance
NM_016407.5(RTF2):c.889C>T (p.His297Tyr)	single nucleotide variant	not specified [RCV004674329]	Chr20:56518233 [GRCh38] Chr20:55093289 [GRCh37] Chr20:20q13.31	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	33
Count of miRNA genes:	33
Interacting mature miRNAs:	33
Transcripts:	ENST00000243913
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
2292864	PRSTS43_H	Prostate tumor susceptibility QTL 43 (human)	0.62	0.05	Prostate tumor susceptibility		20	47303039	64444167	Human
1300007	BP29_H	Blood pressure QTL 29 (human)			Blood pressure	hypertension susceptibility	20	36536005	62536005	Human
407231857	GWAS880833_H	bone density QTL GWAS880833 (human)		3e-17	bone mineral mass (VT:0005007)	bone mineral density (CMO:0001226)	20	56497937	56497938	Human
406964950	GWAS613926_H	severe acute respiratory syndrome, COVID-19 QTL GWAS613926 (human)		4e-16	severe acute respiratory syndrome, COVID-19		20	56492425	56492426	Human
407153599	GWAS802575_H	Alzheimer disease, gastroesophageal reflux disease QTL GWAS802575 (human)		0.0000002	Alzheimer disease, gastroesophageal reflux disease		20	56524414	56524415	Human
407330296	GWAS979272_H	Alzheimer disease, polygenic risk score QTL GWAS979272 (human)		0.0000003	Alzheimer disease, polygenic risk score		20	56513348	56513349	Human

Markers in Region

RH17873

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	20	55,093,364 - 55,093,484	UniSTS	GRCh37
Build 36	20	54,526,771 - 54,526,891	RGD	NCBI36
Celera	20	51,833,794 - 51,833,914	RGD
Cytogenetic Map	20	q13.2	UniSTS
Cytogenetic Map	20	q13.31	UniSTS
HuRef	20	51,878,050 - 51,878,170	UniSTS
GeneMap99-GB4 RH Map	20	335.45	UniSTS
NCBI RH Map	20	583.1	UniSTS

D20S743

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	20	55,094,346 - 55,094,546	UniSTS	GRCh37
Build 36	20	54,527,753 - 54,527,953	RGD	NCBI36
Celera	20	51,834,776 - 51,834,976	RGD
Cytogenetic Map	20	q13.2	UniSTS
HuRef	20	51,879,032 - 51,879,232	UniSTS
Whitehead-RH Map	20	339.8	UniSTS
Whitehead-YAC Contig Map	20		UniSTS

A009W14

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	20	55,093,402 - 55,093,619	UniSTS	GRCh37
Build 36	20	54,526,809 - 54,527,026	RGD	NCBI36
Celera	20	51,833,832 - 51,834,049	RGD
Cytogenetic Map	20	q13.2	UniSTS
Cytogenetic Map	20	q13.31	UniSTS
HuRef	20	51,878,088 - 51,878,305	UniSTS
GeneMap99-GB4 RH Map	20	335.45	UniSTS
NCBI RH Map	20	583.1	UniSTS

G32909

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	20	55,093,402 - 55,093,619	UniSTS	GRCh37
Celera	20	51,833,832 - 51,834,049	UniSTS
Cytogenetic Map	20	q13.31	UniSTS
Cytogenetic Map	20	q13.2	UniSTS
HuRef	20	51,878,088 - 51,878,305	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
1201	2345	2590	2122	4580	1629	2158	2	550	1752	389	2193	6635	6100	12	3407	771	1668	1507	169

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_080615	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_160308	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB085693	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK131203	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL109806	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068258	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000243913 ⟹ ENSP00000243913

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	56,491,492 - 56,525,925 (-)	Ensembl

Ensembl Acc Id:

ENST00000617620 ⟹ ENSP00000482600

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	56,491,492 - 56,497,608 (-)	Ensembl

RefSeq Acc Id:

NM_080615 ⟹ NP_542182

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	20	58,268,986 - 58,303,419 (-)	NCBI

RefSeq Acc Id:

NR_160308

RefSeq Status:

VALIDATED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	20	56,491,492 - 56,525,925 (-)	NCBI

Sequence:

show sequence

ATAAGCTCCACCTCGAGTTCCATTAAGGTATTGAATGCACAGTCTTTGTTGGGGGAAGCATTTC
TTTTTTTCTTTAATGGAGAGTGAAGTTGGCCGCCTCGAAGGCCAGGAGGACTCTGCTCCTGTCA
GGAAAGATACTCAAGCTATCATCTGTAAACATGAACAACATTTACTGCTGGATGGGGAATCACC
AGCGCATGGAAGAACTCTTGGTGGATGCGTTGTCTGGAGCCTGCTCACTCCGCCACGTTACTCA
GCAATGCTTTCCCTGTTTCTGGATACCACGCTCCCTTCTGAACGATGAAGCATGAAGCACCACG
CTCCATAAAAGACCCTCCCTCTCCCCGTGGGAGGGCTCAGGAAGCTATGAGACCTGAGTATGTA
CTGCCTTAAATCAACAGCAACAGAAGGATCTGGTCCCAAGGAAATACTCAGAGAAGCAAAAGCA
GCAACTTTTCAATCTGCAGGTCAGAACCAACAGGAATAAAACTCTCCAGGGACAGATGGCAACA
AAACCTGCCAAGCAACTCTACTCAAGTGACTGAAGCAGGCGCCGCTGCCGGGGAGGAACCGATG
GGAGAGAAAGGCCAGGCTGGGCCCTGACACCGCCAGGACTCCCCCTCCAGGAACCAGGGGGCTT
CTCCTGGAAGCTTAAAGGAAAAAATACTTAAATTATGGTAATAAGAATGCACCTGGAGCTCAAG
ATATGAGCCAGCTTCGAGCCACAAAGTCTGGACTTGTCGTGAGGGCAGTCATTTGCATCTTCAT
TTTTCTTTACTTAAGGAATCCAACTCCTGCAGAATCAGAAGAAGAACCTGCCCAACCAGAAGTA
GTAGAATGTGGCTTTTACCCAGATGAACTGTGTTCCGCTTTATTTGAAGGGAAAGGGGCGGCCC
CCTAAATTGCAAAATTTTGCAAAACCCCTCATAAATCTGAAATACATGCTCATTTACACACACC
AGGAAACTGCTCCAGGATTTCTCGGGGGCTGCATTTCATAACCAGACCCCTGTCTGCAGAAGAG
GGCGATTTCTCTTTGGCATATATTATAACTATTCATAAGGAGCTGGCCATGTTTGTGCAGCTTC
TCAGAGCTATTTATGTACCTCAAAATGTTTATTGTATTCATGTTGATGAAAAGGCCCCAATGAA
GTATAAGACTGCTGTGCAAACCTTGGTTAACTGTTTTGAAAACGTTTTTATTTCCTCCAAGACA
GAGAAGGTGGCTTATGCTGGCTTTACAAGACTACAGGCAGATATTAATTGTATGAAAGTTCTAG
TGCATTCTAAATTTCAATGGAACTATGTCATCAATCTTTGTGGACAGGATTTTCCCATCAAAAC
CAACAGAGAAATCATACACTACATCAGAAGCAAATGGAGTGATAAAAATATTACTCCTGGAGTA
ATCCAACCATTGCACATTAAATCCAAGACAAGTCAAAGTCATCTCGAATTCGTTCCTAAAGGAA
GTATCTATGCACCTCCAAATAACAGATTCAAAGACAAACCACCCCATAACTTAACCATTTATTT
TGGAAGTGCTTACTATGTACTTACAAGGAAGTTTGTAGAGTTCATACTGACTGACATCCATGCA
AAAGACATGCTTCAGTGGTCCAAAGACATCCGCAGCCCAGAGCAACACTACTGGGTGACCCTGA
ACCGACTAAAAGATGCTCCAGGTGCTACACCAAACGCTGGCTGGGAAGGAAATGTTCGAGCCAT
TAAGCGGAAAAGTGAGGAAGGAAATGTTCATGATGGATGTAAAGGCCGCTACGTCGAAGACATC
TGCGTATACGGACCAGGAGACCTGCCGTGGCTCATTCAGTCGCCTTCTCTGTTTGCCAACAAAT
TCGAACCCTCGACAGACCCGCTTGTGGTTACCTGCTTAGAGCGGCGGCACAGACTTCAAGTGCT
GAGGCAGGCAGAAGTTCCTATAGAGCCACACTGGCATTTTCAACAGCAGAGTCATTTCAATATG
AGACTGAACCGCTAGGGAGTGTTTGCTTTCTTACTGGTATCATTCTGTTTCCTTGACTTGAAAC
AAGAGAACATTGAACC

hide sequence

Protein Sequences


Protein RefSeqs	NP_542182	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	BAD18395	(Get FASTA)	NCBI Sequence Viewer
	BAK20458	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000243913.4
GenBank Protein	Q6ZNI0	(Get FASTA)	NCBI Sequence Viewer

Ensembl Acc Id:

ENSP00000243913 ⟸ ENST00000243913

Ensembl Acc Id:

ENSP00000482600 ⟸ ENST00000617620

RefSeq Acc Id:	NP_542182 ⟸ NM_080615
- Peptide Label:	precursor
- UniProtKB:	Q9HCV8 (UniProtKB/Swiss-Prot), Q6ZNI0 (UniProtKB/Swiss-Prot), F2Z6J8 (UniProtKB/TrEMBL)
- Sequence:	show sequence MSQLRATKSGLVVRAVICIFIFLYLRNPTPAESEEEPAQPEVVECGFYPDELCSALFEGKGAAP QIAKFCKTPHKSEIHAHLHTPGNCSRISRGLHFITRPLSAEEGDFSLAYIITIHKELAMFVQLL RAIYVPQNVYCIHVDEKAPMKYKTAVQTLVNCFENVFISSKTEKVAYAGFTRLQADINCMKVLV HSKFQWNYVINLCGQDFPIKTNREIIHYIRSKWSDKNITPGVIQPLHIKSKTSQSHLEFVPKGS IYAPPNNRFKDKPPHNLTIYFGSAYYVLTRKFVEFILTDIHAKDMLQWSKDIRSPEQHYWVTLN RLKDAPGATPNAGWEGNVRAIKRKSEEGNVHDGCKGRYVEDICVYGPGDLPWLIQSPSLFANKF EPSTDPLVVTCLERRHRLQVLRQAEVPIEPHWHFQQQSHFNMRLNR hide sequence

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q6ZNI0-F1-model_v2	AlphaFold	Q6ZNI0	1-430	view protein structure

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:16099	AgrOrtholog
COSMIC	GCNT7	COSMIC
Ensembl Genes	ENSG00000124091	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000243913	ENTREZGENE
	ENST00000243913.8	UniProtKB/Swiss-Prot
GTEx	ENSG00000124091	GTEx
HGNC ID	HGNC:16099	ENTREZGENE
Human Proteome Map	GCNT7	Human Proteome Map
InterPro	Glyco_trans_14	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:140687	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene	140687	ENTREZGENE
PANTHER	BETA-1,3-GALACTOSYL-O-GLYCOSYL-GLYCOPROTEIN BETA-1,6-N-ACETYLGLUCOSAMINYLTRANSFERASE 7	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	GLYCOSYLTRANSFERASE 14 FAMILY MEMBER	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	Branch	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA162389279	PharmGKB
UniProt	F2Z6J8	ENTREZGENE, UniProtKB/TrEMBL
	GCNT7_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
	Q9HCV8	ENTREZGENE
UniProt Secondary	Q9HCV8	UniProtKB/Swiss-Prot

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)

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