NKG7 (natural killer cell granule protein 7)

Gene: NKG7 (natural killer cell granule protein 7) Homo sapiens

Analyze

Symbol:

NKG7

Name:

natural killer cell granule protein 7

RGD ID:

1347836

HGNC Page

HGNC:7830

Description:

Involved in defense response to protozoan. Located in cytolytic granule membrane and plasma membrane.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

G-CSF-induced gene 1 protein; GIG-1 protein; GIG1; GMP-17; granule membrane protein 17; granule membrane protein of 17 kDa; natural killer cell group 7 sequence; natural killer cell protein 7; p15-TIA-1

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	19	51,371,620 - 51,372,654 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	19	51,371,606 - 51,372,701 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	19	51,874,874 - 51,875,908 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	19	56,566,686 - 56,567,772 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	19	56,566,685 - 56,567,772	NCBI
Celera	19	48,925,955 - 48,927,041 (-)	NCBI		Celera
Cytogenetic Map	19	q13.41	NCBI
HuRef	19	48,206,847 - 48,207,933 (-)	NCBI		HuRef
CHM1_1	19	51,876,835 - 51,877,921 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	19	54,460,261 - 54,461,295 (-)	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

genetic disease (IAGP)

multiple acyl-CoA dehydrogenase deficiency (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(+)-schisandrin B (ISO)

1,2-dichloroethane (ISO)

1,2-dimethylhydrazine (ISO)

17beta-estradiol (ISO)

17beta-estradiol 3-benzoate (ISO)

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

2-butoxyethanol (ISO)

3,4-methylenedioxymethamphetamine (ISO)

4-(ethoxymethylene)-2-phenyloxazol-5-one (ISO)

6-propyl-2-thiouracil (ISO)

7,12-dimethyltetraphene (ISO)

acetamide (ISO)

acetylsalicylic acid (EXP)

aldehydo-D-glucose (ISO)

all-trans-retinoic acid (EXP)

ammonium chloride (ISO)

antirheumatic drug (EXP)

benzo[a]pyrene (EXP,ISO)

bisphenol A (ISO)

carbon nanotube (ISO)

chloroprene (ISO)

chromium(6+) (ISO)

cisplatin (EXP)

D-glucose (ISO)

D-mannitol (ISO)

diazinon (EXP)

dioxygen (ISO)

diuron (EXP)

flavonoids (ISO)

folic acid (ISO)

fructose (ISO)

genistein (ISO)

glucose (ISO)

glycidol (ISO)

glyphosate (ISO)

ionomycin (EXP)

nickel atom (EXP)

ozone (ISO)

paracetamol (EXP,ISO)

PhIP (EXP)

phorbol 13-acetate 12-myristate (EXP)

pirinixic acid (ISO)

progesterone (EXP)

pyrrolidine dithiocarbamate (EXP)

silicon dioxide (ISO)

tamibarotene (EXP)

testosterone (ISO)

tetrachloromethane (ISO)

thioacetamide (ISO)

titanium dioxide (ISO)

trichloroethene (ISO)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

CD4-positive, alpha-beta T cell activation (ISS)

defense response to protozoan (IDA)

granzyme-mediated programmed cell death signaling pathway (ISS)

inflammatory response (IEA)

killing of cells of another organism (IEA)

natural killer cell degranulation (ISS)

natural killer cell mediated cytotoxicity (ISS)

natural killer cell mediated cytotoxicity directed against tumor cell target (ISS)

positive regulation of inflammatory response (ISS)

Cellular Component

cytolytic granule (ISS)

cytolytic granule membrane (IDA,IEA)

lysosome (IEA)

membrane (IEA)

plasma membrane (IBA,IDA,IEA,TAS)

Molecular Function

protein binding (IPI)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:7510105	PMID:8458737	PMID:8570616	PMID:12477932	PMID:15489334	PMID:21516116	PMID:21873635	PMID:21988832	PMID:24623722	PMID:25416956	PMID:30862715	PMID:31515488
PMID:32296183	PMID:32839608	PMID:36949045

Genomics

Comparative Map Data

NKG7
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	19	51,371,620 - 51,372,654 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	19	51,371,606 - 51,372,701 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	19	51,874,874 - 51,875,908 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	19	56,566,686 - 56,567,772 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	19	56,566,685 - 56,567,772	NCBI
Celera	19	48,925,955 - 48,927,041 (-)	NCBI		Celera
Cytogenetic Map	19	q13.41	NCBI
HuRef	19	48,206,847 - 48,207,933 (-)	NCBI		HuRef
CHM1_1	19	51,876,835 - 51,877,921 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	19	54,460,261 - 54,461,295 (-)	NCBI		T2T-CHM13v2.0

Nkg7
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	7	43,086,562 - 43,087,670 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	7	43,086,497 - 43,087,673 (+)	Ensembl		GRCm39 Ensembl
GRCm38	7	43,437,138 - 43,438,246 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	7	43,437,073 - 43,438,249 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	7	50,692,508 - 50,693,616 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	7	43,305,058 - 43,306,166 (+)	NCBI		MGSCv36	mm8
Celera	7	38,903,800 - 38,904,909 (+)	NCBI		Celera
Cytogenetic Map	7	B3	NCBI
cM Map	7	28.25	NCBI

Nkg7
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	1	102,981,497 - 102,982,564 (+)	NCBI		GRCr8
mRatBN7.2	1	93,844,748 - 93,845,975 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	1	93,844,902 - 93,845,983 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	1	99,230,257 - 99,231,324 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	1	107,702,931 - 107,703,998 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	1	100,995,511 - 100,996,578 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	1	98,492,873 - 98,493,940 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	1	98,492,828 - 98,493,978 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	1	99,569,678 - 99,570,745 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	1	93,813,123 - 93,814,190 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	1	93,891,233 - 93,892,299 (+)	NCBI
Celera	1	88,122,019 - 88,123,086 (+)	NCBI		Celera
Cytogenetic Map	1	q22	NCBI

Nkg7
(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_004955558	1,028,425 - 1,029,161 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955558	1,027,682 - 1,029,338 (+)	NCBI	ChiLan1.0	ChiLan1.0

NKG7
(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	20	57,408,922 - 57,409,958 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	19	59,330,407 - 59,331,538 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	19	48,306,714 - 48,307,961 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	19	57,192,778 - 57,193,882 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	19	57,192,788 - 57,193,882 (-)	Ensembl	panpan1.1		panPan2

NKG7
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	1	105,607,558 - 105,608,870 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
Dog10K_Boxer_Tasha	1	105,180,162 - 105,181,513 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	1	106,117,006 - 106,118,357 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	1	106,117,043 - 106,119,057 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	1	105,788,654 - 105,790,005 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	1	105,429,503 - 105,430,854 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	1	106,225,044 - 106,226,395 (+)	NCBI		UU_Cfam_GSD_1.0

Nkg7
(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_024409349	23,069,735 - 23,070,976 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004937378	42,066 - 43,156 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004937378	42,083 - 43,068 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

NKG7
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	6	58,496,089 - 58,497,827 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	6	58,496,089 - 58,497,827 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	6	51,692,516 - 51,694,254 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

NKG7
(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	6	44,291,219 - 44,292,338 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	6	44,291,134 - 44,292,310 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666073	24,340,409 - 24,341,501 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Nkg7
(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_female_1.0 Ensembl	NW_004624832	3,501,973 - 3,504,773 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624832	3,501,924 - 3,502,750 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in NKG7
16 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	copy number gain	See cases [RCV000050883]	Chr19:50191219..58535818 [GRCh38] Chr19:50694476..59047185 [GRCh37] Chr19:55386288..63738997 [NCBI36] Chr19:19q13.33-13.43	pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	copy number gain	See cases [RCV000052925]	Chr19:49907832..58557889 [GRCh38] Chr19:50411089..59069256 [GRCh37] Chr19:55102901..63761068 [NCBI36] Chr19:19q13.33-13.43	pathogenic
GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3	copy number gain	See cases [RCV000052926]	Chr19:51141518..58539965 [GRCh38] Chr19:51644775..59051332 [GRCh37] Chr19:56336587..63743144 [NCBI36] Chr19:19q13.41-13.43	pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	copy number gain	See cases [RCV000052914]	Chr19:47908540..58539965 [GRCh38] Chr19:48411797..59051332 [GRCh37] Chr19:53103609..63743144 [NCBI36] Chr19:19q13.33-13.43	pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	copy number gain	See cases [RCV000052915]	Chr19:47929575..58572206 [GRCh38] Chr19:48432832..59083573 [GRCh37] Chr19:53124644..63775385 [NCBI36] Chr19:19q13.33-13.43	pathogenic
NM_005601.3(NKG7):c.479C>T (p.Pro160Leu)	single nucleotide variant	Malignant melanoma [RCV000072281]	Chr19:51371796 [GRCh38] Chr19:51875050 [GRCh37] Chr19:56566862 [NCBI36] Chr19:19q13.41	not provided
NM_005601.3(NKG7):c.432C>T (p.Leu144=)	single nucleotide variant	Malignant melanoma [RCV000072282]	Chr19:51371947 [GRCh38] Chr19:51875201 [GRCh37] Chr19:56567013 [NCBI36] Chr19:19q13.41	not provided
GRCh38/hg38 19q13.41(chr19:51202361-51993020)x3	copy number gain	See cases [RCV000143450]	Chr19:51202361..51993020 [GRCh38] Chr19:51705617..52496273 [GRCh37] Chr19:56397429..57188085 [NCBI36] Chr19:19q13.41	uncertain significance
GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	copy number gain	See cases [RCV000135843]	Chr19:50152520..58581203 [GRCh38] Chr19:50655777..59092570 [GRCh37] Chr19:55347589..63784382 [NCBI36] Chr19:19q13.33-13.43	pathogenic
GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3	copy number gain	See cases [RCV000445925]	Chr19:50489390..59095359 [GRCh37] Chr19:19q13.33-13.43	pathogenic
NM_005601.4(NKG7):c.451C>A (p.Leu151Met)	single nucleotide variant	Inborn genetic diseases [RCV003287916]	Chr19:51371824 [GRCh38] Chr19:51875078 [GRCh37] Chr19:19q13.41	uncertain significance
GRCh37/hg19 19q13.33-13.43(chr19:50740074-59097160)x3	copy number gain	not provided [RCV000740208]	Chr19:50740074..59097160 [GRCh37] Chr19:19q13.33-13.43	pathogenic
NM_005601.4(NKG7):c.158-4T>A	single nucleotide variant	not provided [RCV000964077]	Chr19:51372311 [GRCh38] Chr19:51875565 [GRCh37] Chr19:19q13.41	benign
NM_005601.4(NKG7):c.337A>G (p.Thr113Ala)	single nucleotide variant	not provided [RCV000947999]	Chr19:51372042 [GRCh38] Chr19:51875296 [GRCh37] Chr19:19q13.41	benign
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	copy number gain	See cases [RCV000511289]	Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43	pathogenic\|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	copy number gain	See cases [RCV000512296]	Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3	copy number gain	not provided [RCV000752439]	Chr19:68029..59110290 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3	copy number gain	not provided [RCV000752444]	Chr19:260912..59097160 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
NC_000019.9:g.(?_51727962)_(51890697_?)del	deletion	Multiple acyl-CoA dehydrogenase deficiency [RCV003107570]	Chr19:51727962..51890697 [GRCh37] Chr19:19q13.41	pathogenic
GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	copy number gain	not provided [RCV001007050]	Chr19:44738088..53621561 [GRCh37] Chr19:19q13.31-13.42	pathogenic
GRCh37/hg19 19q13.33-13.41(chr19:50469730-51916485)x3	copy number gain	not provided [RCV001007055]	Chr19:50469730..51916485 [GRCh37] Chr19:19q13.33-13.41	uncertain significance
GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	copy number gain	not provided [RCV001249294]	Chr19:47939842..54626871 [GRCh37] Chr19:19q13.32-13.42	not provided
GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	copy number gain	not provided [RCV001259944]	Chr19:48463931..57095254 [GRCh37] Chr19:19q13.33-13.43	pathogenic
GRCh37/hg19 19q13.41(chr19:51769834-52415762)x3	copy number gain	not provided [RCV001827892]	Chr19:51769834..52415762 [GRCh37] Chr19:19q13.41	uncertain significance
NM_005601.4(NKG7):c.149T>C (p.Ile50Thr)	single nucleotide variant	Inborn genetic diseases [RCV003001686]	Chr19:51372387 [GRCh38] Chr19:51875641 [GRCh37] Chr19:19q13.41	uncertain significance
NM_005601.4(NKG7):c.454G>T (p.Gly152Cys)	single nucleotide variant	Inborn genetic diseases [RCV002821705]	Chr19:51371821 [GRCh38] Chr19:51875075 [GRCh37] Chr19:19q13.41	uncertain significance
NM_005601.4(NKG7):c.259C>G (p.Pro87Ala)	single nucleotide variant	Inborn genetic diseases [RCV003240685]	Chr19:51372206 [GRCh38] Chr19:51875460 [GRCh37] Chr19:19q13.41	uncertain significance
GRCh37/hg19 19q13.33-13.41(chr19:49911081-53127438)	copy number gain	not specified [RCV002052689]	Chr19:49911081..53127438 [GRCh37] Chr19:19q13.33-13.41	likely pathogenic
NM_005601.4(NKG7):c.188T>A (p.Ile63Asn)	single nucleotide variant	Inborn genetic diseases [RCV003012998]	Chr19:51372277 [GRCh38] Chr19:51875531 [GRCh37] Chr19:19q13.41	uncertain significance
NM_005601.4(NKG7):c.34G>A (p.Gly12Ser)	single nucleotide variant	Inborn genetic diseases [RCV002737353]	Chr19:51372502 [GRCh38] Chr19:51875756 [GRCh37] Chr19:19q13.41	uncertain significance
NM_005601.4(NKG7):c.316G>C (p.Val106Leu)	single nucleotide variant	Inborn genetic diseases [RCV002697034]	Chr19:51372063 [GRCh38] Chr19:51875317 [GRCh37] Chr19:19q13.41	uncertain significance
NM_005601.4(NKG7):c.63T>G (p.Ile21Met)	single nucleotide variant	Inborn genetic diseases [RCV002645061]	Chr19:51372473 [GRCh38] Chr19:51875727 [GRCh37] Chr19:19q13.41	uncertain significance
GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	copy number gain	not provided [RCV003485200]	Chr19:49625130..57647352 [GRCh37] Chr19:19q13.33-13.43	likely pathogenic
NM_005601.4(NKG7):c.289G>A (p.Ala97Thr)	single nucleotide variant	Inborn genetic diseases [RCV003202511]	Chr19:51372176 [GRCh38] Chr19:51875430 [GRCh37] Chr19:19q13.41	likely benign
NM_005601.4(NKG7):c.398T>C (p.Phe133Ser)	single nucleotide variant	Inborn genetic diseases [RCV002915193]	Chr19:51371981 [GRCh38] Chr19:51875235 [GRCh37] Chr19:19q13.41	uncertain significance
NM_005601.4(NKG7):c.316G>T (p.Val106Leu)	single nucleotide variant	Inborn genetic diseases [RCV002805004]	Chr19:51372063 [GRCh38] Chr19:51875317 [GRCh37] Chr19:19q13.41	uncertain significance
NM_005601.4(NKG7):c.475C>G (p.Arg159Gly)	single nucleotide variant	Inborn genetic diseases [RCV002808480]	Chr19:51371800 [GRCh38] Chr19:51875054 [GRCh37] Chr19:19q13.41	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	1259
Count of miRNA genes:	377
Interacting mature miRNAs:	401
Transcripts:	ENST00000221978, ENST00000593572, ENST00000595157, ENST00000595217, ENST00000600427
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.

Markers in Region

SHGC-35527

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	51,874,879 - 51,875,032	UniSTS	GRCh37
Build 36	19	56,566,691 - 56,566,844	RGD	NCBI36
Celera	19	48,925,960 - 48,926,113	RGD
Cytogenetic Map	19	q13.41	UniSTS
HuRef	19	48,206,852 - 48,207,005	UniSTS
GeneMap99-GB4 RH Map	19	275.75	UniSTS
Whitehead-RH Map	19	349.2	UniSTS
NCBI RH Map	19	569.6	UniSTS

NKG7

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	51,875,244 - 51,875,502	UniSTS	GRCh37
Celera	19	48,926,325 - 48,926,583	UniSTS
HuRef	19	48,207,217 - 48,207,475	UniSTS

Expression

RNA-SEQ Expression

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

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

visual system

adipose tissue

appendage

entire extraembryonic component

pharyngeal arch

High

228

234

Medium

234

732

490

202

1277

197

382

101

139

240

913

520

101

Low

2029

1876

1205

410

372

253

3481

1893

3226

230

1103

517

155

684

2413

Below cutoff

110

144

437

232

337

264

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001363693	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_005601	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_005258955	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_006723228	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054321078	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054321079	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC008750	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF305941	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AI313472	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC015759	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BG743982	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BQ011897	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471135	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068259	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	S69115	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U09608	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000221978 ⟹ ENSP00000221978

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	51,371,620 - 51,372,654 (-)	Ensembl

RefSeq Acc Id:

ENST00000593572 ⟹ ENSP00000473204

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	51,371,620 - 51,372,403 (-)	Ensembl

RefSeq Acc Id:

ENST00000595157 ⟹ ENSP00000471163

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	51,371,698 - 51,372,410 (-)	Ensembl

RefSeq Acc Id:

ENST00000595217 ⟹ ENSP00000468910

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	51,371,606 - 51,372,701 (-)	Ensembl

RefSeq Acc Id:

ENST00000600427 ⟹ ENSP00000469370

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	51,371,620 - 51,372,640 (-)	Ensembl

RefSeq Acc Id:

NM_001363693 ⟹ NP_001350622

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	51,371,620 - 51,372,654 (-)	NCBI
T2T-CHM13v2.0	19	54,460,261 - 54,461,295 (-)	NCBI

Sequence:

show sequence

CTTTCTTGGGCTCTAAGGACCCAGGAGTCTGGGTGCACAGCCTCCTTCTCTCTGAGATTCAAGA
GTCTGATCAGCAGCCTCTTCCTCCTCCAGGACCCAGAAGCCCTGAGCTTATCCCCATGGAGCTC
TGCCGGTCCCTGGCCCTGCTGGGGGGCTCCCTGGGCCTGATGTTCTGCCTGATTGCTTTGAGCA
CCGATTTCTGGTTTGAGGCTGTGGGTCCCACCCACTCAGCTCACTCGGGCCTCTGGCCAACAGG
GCATGGGGACATCATATCAGGCCACGGCCCGCTTGTCTCAACCACCGCAGCCTTTGCTGCAGGT
AAGGACTCTGGACTGGACTGGGGCATCGCGAGCCAGCGAATTCCTGCCGAGGAGCTGAGCCATC
TCTCTTGTCCTTGTCCCCAGCCATCTCCATGGTGGTGGCCATGGCGGTGTACACCAGCGAGCGG
TGGGACCAGCCTCCACACCCCCAGATCCAGACCTTCTTCTCCTGGTCCTTCTACCTGGGCTGGG
TCTCAGCTATCCTCTTGCTCTGTACAGGTGCCCTGAGCCTGGGTGCTCACTGTGGCGGTCCCCG
TCCTGGCTATGAAACCTTGTGAGCAGAAGGCAAGAGCGGCAAGATGAGTTTTGAGCGTTGTATT
CCAAAGGCCTCATCTGGAGCCTCGGGAAAGTCTGGTCCCACATCTGCCCGCCCTTCCAGCCCTT
CCCCAGCCCCTCCTCTTGTTTCTTCATTCATTCAACAAAATTTGGCTGGAA

hide sequence

RefSeq Acc Id:

NM_005601 ⟹ NP_005592

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	51,371,620 - 51,372,654 (-)	NCBI
GRCh37	19	51,874,874 - 51,875,976 (-)	NCBI
Build 36	19	56,566,686 - 56,567,772 (-)	NCBI Archive
Celera	19	48,925,955 - 48,927,041 (-)	RGD
HuRef	19	48,206,847 - 48,207,933 (-)	ENTREZGENE
CHM1_1	19	51,876,835 - 51,877,921 (-)	NCBI
T2T-CHM13v2.0	19	54,460,261 - 54,461,295 (-)	NCBI

Sequence:

show sequence

CTTTCTTGGGCTCTAAGGACCCAGGAGTCTGGGTGCACAGCCTCCTTCTCTCTGAGATTCAAGA
GTCTGATCAGCAGCCTCTTCCTCCTCCAGGACCCAGAAGCCCTGAGCTTATCCCCATGGAGCTC
TGCCGGTCCCTGGCCCTGCTGGGGGGCTCCCTGGGCCTGATGTTCTGCCTGATTGCTTTGAGCA
CCGATTTCTGGTTTGAGGCTGTGGGTCCCACCCACTCAGCTCACTCGGGCCTCTGGCCAACAGG
GCATGGGGACATCATATCAGGCTACATCCACGTGACGCAGACCTTCAGCATTATGGCTGTTCTG
TGGGCCCTGGTGTCCGTGAGCTTCCTGGTCCTGTCCTGCTTCCCCTCACTGTTCCCCCCAGGCC
ACGGCCCGCTTGTCTCAACCACCGCAGCCTTTGCTGCAGCCATCTCCATGGTGGTGGCCATGGC
GGTGTACACCAGCGAGCGGTGGGACCAGCCTCCACACCCCCAGATCCAGACCTTCTTCTCCTGG
TCCTTCTACCTGGGCTGGGTCTCAGCTATCCTCTTGCTCTGTACAGGTGCCCTGAGCCTGGGTG
CTCACTGTGGCGGTCCCCGTCCTGGCTATGAAACCTTGTGAGCAGAAGGCAAGAGCGGCAAGAT
GAGTTTTGAGCGTTGTATTCCAAAGGCCTCATCTGGAGCCTCGGGAAAGTCTGGTCCCACATCT
GCCCGCCCTTCCAGCCCTTCCCCAGCCCCTCCTCTTGTTTCTTCATTCATTCAACAAAATTTGG
CTGGAA

hide sequence

RefSeq Acc Id:

XM_005258955 ⟹ XP_005259012

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	51,371,620 - 51,372,654 (-)	NCBI
GRCh37	19	51,874,874 - 51,875,976 (-)	NCBI

Sequence:

show sequence

GACCCCTCACTGCCCCAACTGCTTGCTGTTCTCTCTTTCTTGGGCTCTAAGGACCCAGGAGTCT
GGGTGCACAGCCTCCTTCTCTCTGAGATTCAAGAGTCTGATCAGCAGCCTCTTCCTCCTCCAGG
ACCCAGAAGCCCTGAGCTTATCCCCATGGAGCTCTGCCGGTCCCTGGCCCTGCTGGGGGGCTCC
CTGGGCCTGATGTTCTGCCTGATTGCTTTGAGCACCGATTTCTGGTTTGAGGCTGTGGGTCCCA
CCCACTCAGCTCACTCGGGCCTCTGGCCAACAGGGCATGGGGACATCATATCAGGCCACGGCCC
GCTTGTCTCAACCACCGCAGCCTTTGCTGCAGCCATCTCCATGGTGGTGGCCATGGCGGTGTAC
ACCAGCGAGCGGTGGGACCAGCCTCCACACCCCCAGATCCAGACCTTCTTCTCCTGGTCCTTCT
ACCTGGGCTGGGTCTCAGCTATCCTCTTGCTCTGTACAGGTGCCCTGAGCCTGGGTGCTCACTG
TGGCGGTCCCCGTCCTGGCTATGAAACCTTGTGAGCAGAAGGCAAGAGCGGCAAGATGAGTTTT
GAGCGTTGTATTCCAAAGGCCTCATCTGGAGCCTCGGGAAAGTCTGGTCCCACATCTGCCCGCC
CTTCCAGCCCTTCCCCAGCCCCTCCTCTTGTTTCTTCATTCATTCAACAAAATTTGGCTGGAAT
CTG

hide sequence

RefSeq Acc Id:

XM_006723228 ⟹ XP_006723291

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	51,371,620 - 51,372,654 (-)	NCBI

Sequence:

show sequence

GACCCCTCACTGCCCCAACTGCTTGCTGTTCTCTCTTTCTTGGGCTCTAAGGACCCAGGAGTCT
GGGTGCACAGCCTCCTTCTCTCTGAGATTCAAGAGTCTGATCAGCAGCCTCTTCCTCCTCCAGG
ACCCAGAAGCCCTGAGCTTATCCCCATGGAGCTCTGCCGGTCCCTGGCCCTGCTGGGGGGCTCC
CTGGGCCTGATGTTCTGCCTGATTGCTTTGAGCACCGATTTCTGGTTTGAGGCTGTGGGTCCCA
CCCACTCAGCTCACTCGGGCCTCTGGCCAACAGGGCATGGGGACATCATATCAGCCATCTCCAT
GGTGGTGGCCATGGCGGTGTACACCAGCGAGCGGTGGGACCAGCCTCCACACCCCCAGATCCAG
ACCTTCTTCTCCTGGTCCTTCTACCTGGGCTGGGTCTCAGCTATCCTCTTGCTCTGTACAGGTG
CCCTGAGCCTGGGTGCTCACTGTGGCGGTCCCCGTCCTGGCTATGAAACCTTGTGAGCAGAAGG
CAAGAGCGGCAAGATGAGTTTTGAGCGTTGTATTCCAAAGGCCTCATCTGGAGCCTCGGGAAAG
TCTGGTCCCACATCTGCCCGCCCTTCCAGCCCTTCCCCAGCCCCTCCTCTTGTTTCTTCATTCA
TTCAACAAAATTTGGCTGGAATCTG

hide sequence

RefSeq Acc Id:

XM_054321078 ⟹ XP_054177053

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	19	54,460,261 - 54,461,295 (-)	NCBI

RefSeq Acc Id:

XM_054321079 ⟹ XP_054177054

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	19	54,460,261 - 54,461,295 (-)	NCBI

Protein Sequences


Protein RefSeqs	NP_001350622	(Get FASTA)	NCBI Sequence Viewer
	NP_005592	(Get FASTA)	NCBI Sequence Viewer
	XP_005259012	(Get FASTA)	NCBI Sequence Viewer
	XP_006723291	(Get FASTA)	NCBI Sequence Viewer
	XP_054177053	(Get FASTA)	NCBI Sequence Viewer
	XP_054177054	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAA18209	(Get FASTA)	NCBI Sequence Viewer
	AAB30078	(Get FASTA)	NCBI Sequence Viewer
	AAG32329	(Get FASTA)	NCBI Sequence Viewer
	AAH15759	(Get FASTA)	NCBI Sequence Viewer
	EAW72006	(Get FASTA)	NCBI Sequence Viewer
	EAW72007	(Get FASTA)	NCBI Sequence Viewer
	EAW72008	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000221978
	ENSP00000221978.4
	ENSP00000468910
	ENSP00000468910.1
	ENSP00000469370.1
	ENSP00000471163.1
	ENSP00000473204.1
GenBank Protein	Q16617	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_005592 ⟸ NM_005601
- Peptide Label:	isoform 1
- UniProtKB:	Q16617 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MELCRSLALLGGSLGLMFCLIALSTDFWFEAVGPTHSAHSGLWPTGHGDIISGYIHVTQTFSIM AVLWALVSVSFLVLSCFPSLFPPGHGPLVSTTAAFAAAISMVVAMAVYTSERWDQPPHPQIQTF FSWSFYLGWVSAILLLCTGALSLGAHCGGPRPGYETL hide sequence

RefSeq Acc Id:	XP_005259012 ⟸ XM_005258955
- Peptide Label:	isoform X1
- Sequence:	show sequence MELCRSLALLGGSLGLMFCLIALSTDFWFEAVGPTHSAHSGLWPTGHGDIISGHGPLVSTTAAF AAAISMVVAMAVYTSERWDQPPHPQIQTFFSWSFYLGWVSAILLLCTGALSLGAHCGGPRPGYE TL hide sequence

RefSeq Acc Id:	XP_006723291 ⟸ XM_006723228
- Peptide Label:	isoform X2
- Sequence:	show sequence MELCRSLALLGGSLGLMFCLIALSTDFWFEAVGPTHSAHSGLWPTGHGDIISAISMVVAMAVYT SERWDQPPHPQIQTFFSWSFYLGWVSAILLLCTGALSLGAHCGGPRPGYETL hide sequence

RefSeq Acc Id:	NP_001350622 ⟸ NM_001363693
- Peptide Label:	isoform 2
- UniProtKB:	A0A0B4J2A6 (UniProtKB/TrEMBL)

RefSeq Acc Id:

ENSP00000471163 ⟸ ENST00000595157

RefSeq Acc Id:

ENSP00000468910 ⟸ ENST00000595217

RefSeq Acc Id:

ENSP00000469370 ⟸ ENST00000600427

RefSeq Acc Id:

ENSP00000221978 ⟸ ENST00000221978

RefSeq Acc Id:

ENSP00000473204 ⟸ ENST00000593572

RefSeq Acc Id:	XP_054177054 ⟸ XM_054321079
- Peptide Label:	isoform X2

RefSeq Acc Id:	XP_054177053 ⟸ XM_054321078
- Peptide Label:	isoform X1

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q16617-F1-model_v2	AlphaFold	Q16617	1-165	view protein structure

Promoters

RGD ID:

13205363

Promoter ID:

EPDNEW_H26262

Type:

initiation region

Name:

NKG7_1

Description:

natural killer cell granule protein 7

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H26263

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	51,372,654 - 51,372,714	EPDNEW

RGD ID:

13205365

Promoter ID:

EPDNEW_H26263

Type:

initiation region

Name:

NKG7_2

Description:

natural killer cell granule protein 7

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H26262

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	51,372,950 - 51,373,010	EPDNEW

RGD ID:

6795855

Promoter ID:

HG_KWN:30690

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, K562, Lymphoblastoid, NB4

Transcripts:

NM_005601, UC002PWK.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	19	56,567,661 - 56,568,161 (-)	MPROMDB

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:7830	AgrOrtholog
COSMIC	NKG7	COSMIC
Ensembl Genes	ENSG00000105374	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000221978	ENTREZGENE
	ENST00000221978.10	UniProtKB/Swiss-Prot
	ENST00000593572.5	UniProtKB/TrEMBL
	ENST00000595157.1	UniProtKB/TrEMBL
	ENST00000595217	ENTREZGENE
	ENST00000595217.1	UniProtKB/TrEMBL
	ENST00000600427.5	UniProtKB/TrEMBL
Gene3D-CATH	1.20.140.150	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000105374	GTEx
HGNC ID	HGNC:7830	ENTREZGENE
Human Proteome Map	NKG7	Human Proteome Map
InterPro	PMP22/EMP/MP20/Claudin	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PMP22_EMP_MP20	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:4818	UniProtKB/Swiss-Prot
NCBI Gene	4818	ENTREZGENE
OMIM	606008	OMIM
PANTHER	EPITHELIAL MEMBRANE PROTEIN-RELATED	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PROTEIN NKG7	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	PMP22_Claudin	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	NKG7	RGD, PharmGKB
PROSITE	PMP22_1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A0A0B4J2A6	ENTREZGENE, UniProtKB/TrEMBL
	M0QXT6_HUMAN	UniProtKB/TrEMBL
	M0R0D6_HUMAN	UniProtKB/TrEMBL
	M0R3G3_HUMAN	UniProtKB/TrEMBL
	NKG7_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2014-03-12	NKG7	natural killer cell granule protein 7		natural killer cell group 7 sequence	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)

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Imported Disease Annotations - ClinVar