ADAM18 (ADAM metallopeptidase domain 18)

Gene: ADAM18 (ADAM metallopeptidase domain 18) Homo sapiens

Analyze

Symbol:

ADAM18

Name:

ADAM metallopeptidase domain 18

RGD ID:

1350533

HGNC Page

HGNC:196

Description:

Predicted to enable metalloendopeptidase activity. Predicted to be involved in several processes, including binding activity of sperm to zona pellucida; male gonad development; and proteolysis. Predicted to be located in membrane. Predicted to be active in plasma membrane.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

a disintegrin and metalloproteinase domain 18; ADAM 18; ADAM27; disintegrin and metalloproteinase domain-containing protein 18; MGC41836; MGC88272; putative ADAM18 gene product; tMDC III; tMDCIII; transmembrane metalloproteinase-like, disintegrin-like, and cysteine-rich protein III; uncharacterized protein LOC8749

RGD Orthologs

Alliance Genes

More Info

more info ...

Related Pseudogenes:

ADAM3B

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	8	39,584,568 - 39,730,065 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	8	39,584,489 - 39,730,065 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	8	39,442,087 - 39,587,584 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	8	39,561,299 - 39,706,644 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	8	39,561,298 - 39,706,644	NCBI
Celera	8	38,393,916 - 38,539,440 (+)	NCBI		Celera
Cytogenetic Map	8	p11.22	NCBI
HuRef	8	37,975,660 - 38,121,135 (+)	NCBI		HuRef
CHM1_1	8	39,489,004 - 39,634,486 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	8	39,861,797 - 40,007,263 (+)	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)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(-)-alpha-phellandrene (EXP)

1,2-dimethylhydrazine (ISO)

17alpha-ethynylestradiol (ISO)

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

acrylamide (ISO)

alpha-phellandrene (EXP)

ammonium chloride (ISO)

atrazine (EXP,ISO)

benzo[a]pyrene (EXP,ISO)

bisphenol A (ISO)

CGP 52608 (EXP)

copper(II) sulfate (EXP)

decabromodiphenyl ether (ISO)

folic acid (EXP)

pirinixic acid (ISO)

tamoxifen (ISO)

triclosan (EXP)

valproic acid (EXP)

vinclozolin (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

binding of sperm to zona pellucida (IBA,IEA)

cell adhesion (IBA,IEA)

cell differentiation (IEA)

male gonad development (IBA,IEA)

proteolysis (IBA,IEA)

spermatogenesis (IEA,TAS)

Cellular Component

membrane (IEA,TAS)

plasma membrane (IBA,IEA)

Molecular Function

metalloendopeptidase activity (IBA,IEA)

metallopeptidase activity (IEA,TAS)

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:8125298	PMID:9665629	PMID:10395895	PMID:12200459	PMID:12477932	PMID:12975309	PMID:15489334	PMID:16344560	PMID:20379614	PMID:21873635	PMID:22174851	PMID:33961781
PMID:34857952

Genomics

Comparative Map Data

ADAM18
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	8	39,584,568 - 39,730,065 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	8	39,584,489 - 39,730,065 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	8	39,442,087 - 39,587,584 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	8	39,561,299 - 39,706,644 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	8	39,561,298 - 39,706,644	NCBI
Celera	8	38,393,916 - 38,539,440 (+)	NCBI		Celera
Cytogenetic Map	8	p11.22	NCBI
HuRef	8	37,975,660 - 38,121,135 (+)	NCBI		HuRef
CHM1_1	8	39,489,004 - 39,634,486 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	8	39,861,797 - 40,007,263 (+)	NCBI		T2T-CHM13v2.0

Adam18
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	8	25,092,262 - 25,164,771 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	8	25,092,262 - 25,164,771 (-)	Ensembl		GRCm39 Ensembl
GRCm38	8	24,602,246 - 24,674,755 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	8	24,602,246 - 24,674,755 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	8	25,712,718 - 25,785,227 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	8	26,067,791 - 26,140,298 (-)	NCBI		MGSCv36	mm8
Celera	8	26,087,026 - 26,155,195 (-)	NCBI		Celera
Cytogenetic Map	8	A2	NCBI
cM Map	8	12.82	NCBI

Adam18
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	16	74,054,974 - 74,127,861 (+)	NCBI		GRCr8
mRatBN7.2	16	67,352,360 - 67,425,820 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	16	67,352,416 - 67,425,248 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	16	72,629,559 - 72,702,392 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	16	76,035,233 - 76,106,789 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	16	71,284,611 - 71,355,984 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	16	72,139,100 - 72,210,902 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	16	72,139,063 - 72,210,900 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	16	71,786,188 - 71,860,908 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	16	71,782,433 - 71,860,913 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	16	71,811,509 - 71,861,178 (+)	NCBI
Celera	16	65,253,599 - 65,324,726 (+)	NCBI		Celera
Cytogenetic Map	16	q12.4-q12.5	NCBI

Adam18
(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_004955536	3,012,888 - 3,109,418 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955536	3,014,457 - 3,109,257 (-)	NCBI	ChiLan1.0	ChiLan1.0

ADAM18
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	16	25,566,325 - 25,750,364 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	16	25,567,301 - 25,750,185 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	16	26,075,839 - 26,259,260 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	16	27,393,923 - 27,572,951 (+)	NCBI		ROS_Cfam_1.0
UMICH_Zoey_3.1	16	25,691,171 - 25,875,353 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	16	26,246,883 - 26,430,558 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	16	26,305,998 - 26,489,651 (+)	NCBI		UU_Cfam_GSD_1.0

Adam18
(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_024404943	48,635,487 - 48,772,589 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936843	707,093 - 836,657 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936843	805,614 - 836,657 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

ADAM18
(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	9,166,119 - 9,233,952 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	17	9,178,152 - 9,233,147 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	17	10,940,383 - 10,995,690 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

ADAM18
(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	8	37,600,595 - 37,743,772 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	8	37,601,156 - 37,743,650 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666052	4,187,395 - 4,334,713 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Adam18
(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_004624780	4,054,259 - 4,186,989 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in ADAM18
30 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	copy number gain	See cases [RCV000050294]	Chr8:12609975..42085703 [GRCh38] Chr8:12467484..41943221 [GRCh37] Chr8:12511855..42062378 [NCBI36] Chr8:8p23.1-11.21	pathogenic
GRCh38/hg38 8p21.2-q11.21(chr8:25832130-48521849)x3	copy number gain	See cases [RCV000050904]	Chr8:25832130..48521849 [GRCh38] Chr8:25689646..49434409 [GRCh37] Chr8:25745563..49596962 [NCBI36] Chr8:8p21.2-q11.21	pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	copy number gain	See cases [RCV000050912]	Chr8:12728904..43673207 [GRCh38] Chr8:12586413..43528350 [GRCh37] Chr8:12630784..43647507 [NCBI36] Chr8:8p23.1-11.1	pathogenic
GRCh38/hg38 8p12-11.21(chr8:34312250-43158901)x1	copy number loss	See cases [RCV000050745]	Chr8:34312250..43158901 [GRCh38] Chr8:34169768..43014044 [GRCh37] Chr8:34289310..43133201 [NCBI36] Chr8:8p12-11.21	pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	copy number gain	See cases [RCV000051206]	Chr8:241530..145049449 [GRCh38] Chr8:191530..146274835 [GRCh37] Chr8:181530..146245639 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3	copy number gain	See cases [RCV000051110]	Chr8:12728904..41928741 [GRCh38] Chr8:12586413..41786259 [GRCh37] Chr8:12630784..41905416 [NCBI36] Chr8:8p23.1-11.21	pathogenic
GRCh38/hg38 8p12-q11.21(chr8:29719897-48521849)x3	copy number gain	See cases [RCV000050995]	Chr8:29719897..48521849 [GRCh38] Chr8:29577413..49434409 [GRCh37] Chr8:29633332..49596962 [NCBI36] Chr8:8p12-q11.21	pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3	copy number gain	See cases [RCV000053630]	Chr8:12609975..43336172 [GRCh38] Chr8:12467484..43191315 [GRCh37] Chr8:12511855..43310472 [NCBI36] Chr8:8p23.1-11.1	pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43255410)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]\|See cases [RCV000053631]	Chr8:12609975..43255410 [GRCh38] Chr8:12467484..43110553 [GRCh37] Chr8:12511855..43229710 [NCBI36] Chr8:8p23.1-11.1	pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	copy number gain	See cases [RCV000053632]	Chr8:12750796..43532444 [GRCh38] Chr8:12608305..43387587 [GRCh37] Chr8:12652676..43506744 [NCBI36] Chr8:8p23.1-11.1	pathogenic
GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	copy number gain	See cases [RCV000053635]	Chr8:14940110..47929925 [GRCh38] Chr8:14797619..48842485 [GRCh37] Chr8:14841990..49005038 [NCBI36] Chr8:8p22-q11.21	pathogenic
GRCh38/hg38 8p11.23-11.21(chr8:37899430-42371734)x3	copy number gain	See cases [RCV000053648]	Chr8:37899430..42371734 [GRCh38] Chr8:37756948..42229252 [GRCh37] Chr8:37876106..42348409 [NCBI36] Chr8:8p11.23-11.21	pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]\|See cases [RCV000053604]	Chr8:244417..145054775 [GRCh38] Chr8:194417..146280161 [GRCh37] Chr8:184417..146250965 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	copy number gain	See cases [RCV000053602]	Chr8:241530..145054634 [GRCh38] Chr8:191530..146280020 [GRCh37] Chr8:181530..146250824 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8p11.23-11.21(chr8:38342177-40546982)x1	copy number loss	See cases [RCV000054238]	Chr8:38342177..40546982 [GRCh38] Chr8:38199695..40404501 [GRCh37] Chr8:38318852..40523658 [NCBI36] Chr8:8p11.23-11.21	pathogenic
NM_001190956.1(ADAM18):c.508C>T (p.Pro170Ser)	single nucleotide variant	Malignant melanoma [RCV000068307]	Chr8:39610692 [GRCh38] Chr8:39468211 [GRCh37] Chr8:39587368 [NCBI36] Chr8:8p11.22	not provided
NM_014237.2(ADAM18):c.683C>T (p.Thr228Ile)	single nucleotide variant	Malignant melanoma [RCV000068308]	Chr8:39637559 [GRCh38] Chr8:39495078 [GRCh37] Chr8:39614235 [NCBI36] Chr8:8p11.22	not provided
NM_014237.2(ADAM18):c.1032G>A (p.Met344Ile)	single nucleotide variant	Malignant melanoma [RCV000068309]	Chr8:39645460 [GRCh38] Chr8:39502979 [GRCh37] Chr8:39622136 [NCBI36] Chr8:8p11.22	not provided
GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776)	copy number gain	Abnormal fetal cardiovascular morphology [RCV001291977]	Chr8:176814..43396776 [GRCh37] Chr8:8p23.3-11.1	pathogenic
GRCh38/hg38 8p11.23-11.21(chr8:38065927-40341650)x1	copy number loss	See cases [RCV000134950]	Chr8:38065927..40341650 [GRCh38] Chr8:37923445..40199169 [GRCh37] Chr8:38042602..40318326 [NCBI36] Chr8:8p11.23-11.21	pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3	copy number gain	See cases [RCV000135786]	Chr8:12609975..43673207 [GRCh38] Chr8:12467484..43528350 [GRCh37] Chr8:12511855..43647507 [NCBI36] Chr8:8p23.1-11.1	pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3	copy number gain	See cases [RCV000135566]	Chr8:12383584..43673207 [GRCh38] Chr8:12241093..43528350 [GRCh37] Chr8:12285464..43647507 [NCBI36] Chr8:8p23.1-11.1	pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3	copy number gain	See cases [RCV000136516]	Chr8:12728904..40169194 [GRCh38] Chr8:12586413..40026713 [GRCh37] Chr8:12630784..40145870 [NCBI36] Chr8:8p23.1-11.21	pathogenic
GRCh38/hg38 8p12-11.21(chr8:29362097-40231708)x1	copy number loss	See cases [RCV000136878]	Chr8:29362097..40231708 [GRCh38] Chr8:29219614..40089227 [GRCh37] Chr8:29275533..40208384 [NCBI36] Chr8:8p12-11.21	pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3	copy number gain	See cases [RCV000137249]	Chr8:12182421..43673207 [GRCh38] Chr8:12039930..43528350 [GRCh37] Chr8:12077339..43647507 [NCBI36] Chr8:8p23.1-11.1	pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	copy number gain	See cases [RCV000138643]	Chr8:241605..145054781 [GRCh38] Chr8:191605..146280167 [GRCh37] Chr8:181605..146250971 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3	copy number gain	See cases [RCV000139796]	Chr8:12646123..43686843 [GRCh38] Chr8:12503632..43541986 [GRCh37] Chr8:12548003..43661143 [NCBI36] Chr8:8p23.1-11.1	pathogenic
GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3	copy number gain	See cases [RCV000139582]	Chr8:36580103..59618998 [GRCh38] Chr8:36437621..60531557 [GRCh37] Chr8:36556779..60694111 [NCBI36] Chr8:8p12-q12.1	pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	copy number gain	See cases [RCV000141808]	Chr8:208048..145070385 [GRCh38] Chr8:158048..146295771 [GRCh37] Chr8:148048..146266575 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	copy number gain	See cases [RCV000142021]	Chr8:21291522..145070385 [GRCh38] Chr8:21149033..146295771 [GRCh37] Chr8:21193313..146266575 [NCBI36] Chr8:8p21.3-q24.3	pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	copy number gain	See cases [RCV000142858]	Chr8:226452..145068712 [GRCh38] Chr8:176452..146294098 [GRCh37] Chr8:166452..146264902 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	copy number gain	See cases [RCV000148092]	Chr8:241530..145054634 [GRCh38] Chr8:191530..146280020 [GRCh37] Chr8:181530..146250824 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3	copy number gain	See cases [RCV000143508]	Chr8:12633490..40685533 [GRCh38] Chr8:12490999..40543052 [GRCh37] Chr8:12535370..40662209 [NCBI36] Chr8:8p23.1-11.21	pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	copy number gain	See cases [RCV000148249]	Chr8:12609975..42085703 [GRCh38] Chr8:12467484..41943221 [GRCh37] Chr8:12511855..42062378 [NCBI36] Chr8:8p23.1-11.21	pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	copy number gain	See cases [RCV000148237]	Chr8:12728904..43673207 [GRCh38] Chr8:12586413..43528350 [GRCh37] Chr8:12630784..43647507 [NCBI36] Chr8:8p23.1-11.1	pathogenic
GRCh37/hg19 8p23.1-11.22(chr8:12528482-39593802)x3	copy number gain	See cases [RCV000511325]	Chr8:12528482..39593802 [GRCh37] Chr8:8p23.1-11.22	pathogenic
GRCh37/hg19 8p21.2-q12.1(chr8:24772064-24813176)x3	copy number gain	See cases [RCV000446588]	Chr8:24772064..24813176 [GRCh37] Chr8:8p21.2-q12.1	uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	copy number gain	See cases [RCV000447507]	Chr8:158991..146280828 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
GRCh37/hg19 8p23.3-11.1(chr8:158048-43786723)x3	copy number gain	See cases [RCV000447909]	Chr8:158048..43786723 [GRCh37] Chr8:8p23.3-11.1	pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3	copy number gain	See cases [RCV000447913]	Chr8:12580132..43388233 [GRCh37] Chr8:8p23.1-11.1	pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	copy number gain	See cases [RCV000510234]	Chr8:158049..146295771 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
GRCh37/hg19 8p11.22-11.21(chr8:38430146-41298595)x1	copy number loss	See cases [RCV000511461]	Chr8:38430146..41298595 [GRCh37] Chr8:8p11.22-11.21	uncertain significance
GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3	copy number gain	See cases [RCV000511028]	Chr8:11935023..43824035 [GRCh37] Chr8:8p23.1-11.1	pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	copy number gain	See cases [RCV000511095]	Chr8:158049..146295771 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
NM_014237.3(ADAM18):c.307A>G (p.Asn103Asp)	single nucleotide variant	Inborn genetic diseases [RCV003293068]	Chr8:39609524 [GRCh38] Chr8:39467043 [GRCh37] Chr8:8p11.22	uncertain significance
NM_014237.3(ADAM18):c.1403C>T (p.Ser468Phe)	single nucleotide variant	Inborn genetic diseases [RCV003286711]	Chr8:39668074 [GRCh38] Chr8:39525593 [GRCh37] Chr8:8p11.22	uncertain significance
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	copy number gain	See cases [RCV000512169]	Chr8:12490999..146295771 [GRCh37] Chr8:8p23.1-q24.3	pathogenic
GRCh37/hg19 8p12-11.21(chr8:31352498-41481295)x3	copy number gain	not provided [RCV000683035]	Chr8:31352498..41481295 [GRCh37] Chr8:8p12-11.21	pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3	copy number gain	not provided [RCV000747254]	Chr8:164984..146293414 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3	copy number gain	not provided [RCV000747248]	Chr8:10213..146293414 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	copy number gain	not provided [RCV000848478]	Chr8:158048..146295771 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
GRCh37/hg19 8p11.22-q12.3(chr8:39555657-64049089)x3	copy number gain	not provided [RCV000846266]	Chr8:39555657..64049089 [GRCh37] Chr8:8p11.22-q12.3	pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	copy number gain	not provided [RCV000848192]	Chr8:31936551..146295771 [GRCh37] Chr8:8p12-q24.3	pathogenic
GRCh37/hg19 8p12-11.1(chr8:36094421-43822214)x3	copy number gain	not provided [RCV000848822]	Chr8:36094421..43822214 [GRCh37] Chr8:8p12-11.1	uncertain significance
NM_014237.3(ADAM18):c.1018G>A (p.Ala340Thr)	single nucleotide variant	Inborn genetic diseases [RCV003248376]	Chr8:39645446 [GRCh38] Chr8:39502965 [GRCh37] Chr8:8p11.22	uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	copy number gain	Polydactyly [RCV002280629]	Chr8:158048..146295771 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
GRCh37/hg19 8p11.22-11.21(chr8:38430146-41294984)	copy number loss	not specified [RCV002053759]	Chr8:38430146..41294984 [GRCh37] Chr8:8p11.22-11.21	uncertain significance
Single allele	complex	See cases [RCV002292428]	Chr8:6999114..11935023 [GRCh37] Chr8:8p23.3-11.21	pathogenic
Single allele	complex	8p inverted duplication/deletion syndrome [RCV002280753]	Chr8:158048..43019304 [GRCh37] Chr8:8p23.3-11.21	pathogenic
NM_014237.3(ADAM18):c.1806G>A (p.Met602Ile)	single nucleotide variant	Inborn genetic diseases [RCV002969061]	Chr8:39680211 [GRCh38] Chr8:39537730 [GRCh37] Chr8:8p11.22	uncertain significance
NM_014237.3(ADAM18):c.1355A>G (p.Lys452Arg)	single nucleotide variant	Inborn genetic diseases [RCV002687031]	Chr8:39668026 [GRCh38] Chr8:39525545 [GRCh37] Chr8:8p11.22	uncertain significance
NM_014237.3(ADAM18):c.259T>C (p.Tyr87His)	single nucleotide variant	Inborn genetic diseases [RCV002905508]	Chr8:39609112 [GRCh38] Chr8:39466631 [GRCh37] Chr8:8p11.22	uncertain significance
NM_014237.3(ADAM18):c.1125A>T (p.Lys375Asn)	single nucleotide variant	Inborn genetic diseases [RCV002970091]	Chr8:39648422 [GRCh38] Chr8:39505941 [GRCh37] Chr8:8p11.22	uncertain significance
NM_014237.3(ADAM18):c.328A>G (p.Ile110Val)	single nucleotide variant	Inborn genetic diseases [RCV002844814]	Chr8:39609545 [GRCh38] Chr8:39467064 [GRCh37] Chr8:8p11.22	uncertain significance
NM_014237.3(ADAM18):c.452C>A (p.Ser151Tyr)	single nucleotide variant	Inborn genetic diseases [RCV002952319]	Chr8:39610636 [GRCh38] Chr8:39468155 [GRCh37] Chr8:8p11.22	uncertain significance
NM_014237.3(ADAM18):c.518C>T (p.Ser173Leu)	single nucleotide variant	Inborn genetic diseases [RCV002799706]	Chr8:39610702 [GRCh38] Chr8:39468221 [GRCh37] Chr8:8p11.22	uncertain significance
NM_014237.3(ADAM18):c.1925G>C (p.Cys642Ser)	single nucleotide variant	Inborn genetic diseases [RCV002980588]	Chr8:39706812 [GRCh38] Chr8:39564331 [GRCh37] Chr8:8p11.22	uncertain significance
NM_014237.3(ADAM18):c.1741A>G (p.Ile581Val)	single nucleotide variant	Inborn genetic diseases [RCV002759555]	Chr8:39680146 [GRCh38] Chr8:39537665 [GRCh37] Chr8:8p11.22	uncertain significance
NM_014237.3(ADAM18):c.52G>C (p.Glu18Gln)	single nucleotide variant	Inborn genetic diseases [RCV002645217]	Chr8:39584674 [GRCh38] Chr8:39442193 [GRCh37] Chr8:8p11.22	uncertain significance
NM_014237.3(ADAM18):c.1113A>T (p.Lys371Asn)	single nucleotide variant	Inborn genetic diseases [RCV002645216]	Chr8:39648410 [GRCh38] Chr8:39505929 [GRCh37] Chr8:8p11.22	uncertain significance
NM_014237.3(ADAM18):c.1198T>A (p.Ser400Thr)	single nucleotide variant	Inborn genetic diseases [RCV003004926]	Chr8:39648495 [GRCh38] Chr8:39506014 [GRCh37] Chr8:8p11.22	uncertain significance
NM_014237.3(ADAM18):c.1460C>G (p.Thr487Ser)	single nucleotide variant	Inborn genetic diseases [RCV002767973]	Chr8:39668131 [GRCh38] Chr8:39525650 [GRCh37] Chr8:8p11.22	uncertain significance
NM_014237.3(ADAM18):c.1390T>C (p.Cys464Arg)	single nucleotide variant	Inborn genetic diseases [RCV002746910]	Chr8:39668061 [GRCh38] Chr8:39525580 [GRCh37] Chr8:8p11.22	uncertain significance
NM_014237.3(ADAM18):c.1628G>A (p.Arg543Gln)	single nucleotide variant	Inborn genetic diseases [RCV002961436]	Chr8:39677533 [GRCh38] Chr8:39535052 [GRCh37] Chr8:8p11.22	likely benign
NM_014237.3(ADAM18):c.738T>A (p.Ser246Arg)	single nucleotide variant	Inborn genetic diseases [RCV003008678]	Chr8:39637614 [GRCh38] Chr8:39495133 [GRCh37] Chr8:8p11.22	uncertain significance
NM_014237.3(ADAM18):c.631A>G (p.Ile211Val)	single nucleotide variant	Inborn genetic diseases [RCV002714241]	Chr8:39637306 [GRCh38] Chr8:39494825 [GRCh37] Chr8:8p11.22	uncertain significance
NM_014237.3(ADAM18):c.663G>A (p.Met221Ile)	single nucleotide variant	Inborn genetic diseases [RCV002965823]\|not provided [RCV003427650]	Chr8:39637539 [GRCh38] Chr8:39495058 [GRCh37] Chr8:8p11.22	likely benign\|uncertain significance
NM_014237.3(ADAM18):c.1721A>G (p.Gln574Arg)	single nucleotide variant	Inborn genetic diseases [RCV002677862]	Chr8:39680126 [GRCh38] Chr8:39537645 [GRCh37] Chr8:8p11.22	uncertain significance
NM_014237.3(ADAM18):c.418A>G (p.Ile140Val)	single nucleotide variant	Inborn genetic diseases [RCV003180014]	Chr8:39610602 [GRCh38] Chr8:39468121 [GRCh37] Chr8:8p11.22	uncertain significance
NM_014237.3(ADAM18):c.1394A>G (p.Asn465Ser)	single nucleotide variant	Inborn genetic diseases [RCV003307210]	Chr8:39668065 [GRCh38] Chr8:39525584 [GRCh37] Chr8:8p11.22	uncertain significance
GRCh37/hg19 8p11.23-q11.21(chr8:36763176-50929707)x3	copy number gain	See cases [RCV003329560]	Chr8:36763176..50929707 [GRCh37] Chr8:8p11.23-q11.21	pathogenic
NM_014237.3(ADAM18):c.552A>G (p.Gln184=)	single nucleotide variant	not provided [RCV003423912]	Chr8:39629403 [GRCh38] Chr8:39486922 [GRCh37] Chr8:8p11.22	likely benign
NM_014237.3(ADAM18):c.1348T>C (p.Cys450Arg)	single nucleotide variant	Inborn genetic diseases [RCV003372075]	Chr8:39668019 [GRCh38] Chr8:39525538 [GRCh37] Chr8:8p11.22	uncertain significance
GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3	copy number gain	not provided [RCV003484713]	Chr8:2201405..41723095 [GRCh37] Chr8:8p23.2-11.21	pathogenic
GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3	copy number gain	not provided [RCV003484725]	Chr8:14240573..43824035 [GRCh37] Chr8:8p22-11.1	pathogenic
GRCh37/hg19 8p11.22-11.21(chr8:38602986-41615655)x1	copy number loss	not provided [RCV003435667]	Chr8:38602986..41615655 [GRCh37] Chr8:8p11.22-11.21	pathogenic
Single allele	duplication	not provided [RCV003448693]	Chr8:12530550..43483193 [GRCh37] Chr8:8p23.1-11.1	pathogenic
NM_014237.3(ADAM18):c.367A>C (p.Ile123Leu)	single nucleotide variant	not provided [RCV003435470]	Chr8:39610551 [GRCh38] Chr8:39468070 [GRCh37] Chr8:8p11.22	likely benign
GRCh37/hg19 8p11.23-11.1(chr8:37988714-43780050)x3	copy number gain	not specified [RCV003986759]	Chr8:37988714..43780050 [GRCh37] Chr8:8p11.23-11.1	uncertain significance
GRCh37/hg19 8p11.23-11.1(chr8:37972810-43837099)x3	copy number gain	not specified [RCV003986761]	Chr8:37972810..43837099 [GRCh37] Chr8:8p11.23-11.1	uncertain significance
GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	copy number gain	not specified [RCV003986756]	Chr8:158048..41600696 [GRCh37] Chr8:8p23.3-11.21	pathogenic
GRCh37/hg19 8p21.3-11.1(chr8:20136266-43786723)x3	copy number gain	not specified [RCV003986767]	Chr8:20136266..43786723 [GRCh37] Chr8:8p21.3-11.1	pathogenic
GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	copy number gain	not specified [RCV003986754]	Chr8:27024288..89410121 [GRCh37] Chr8:8p21.2-q21.3	pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	copy number gain	not specified [RCV003986742]	Chr8:158048..146295771 [GRCh37] Chr8:8p23.3-q24.3	pathogenic

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	1665
Count of miRNA genes:	851
Interacting mature miRNAs:	989
Transcripts:	ENST00000265707, ENST00000379866, ENST00000520001, ENST00000520087, ENST00000520559, ENST00000520772, ENST00000523755, ENST00000524117, ENST00000541111
Prediction methods:	Microtar, 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

DXS1222

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	45,246,655 - 45,246,872	UniSTS	GRCh37
GRCh37	X	87,423,353 - 87,423,588	UniSTS	GRCh37
Build 36	X	87,310,009 - 87,310,244	RGD	NCBI36
Celera	X	87,661,536 - 87,661,771	RGD
Celera	5	45,140,411 - 45,140,628	UniSTS
Cytogenetic Map	8	p11.22	UniSTS
HuRef	5	45,198,825 - 45,199,042	UniSTS
HuRef	5	149,875,369 - 149,875,585	UniSTS
HuRef	8	38,004,557 - 38,004,765	UniSTS
Marshfield Genetic Map	X	57.91	UniSTS
Marshfield Genetic Map	X	57.91	RGD
Genethon Genetic Map	X	98.0	UniSTS
deCODE Assembly Map	X	88.67	UniSTS
GeneMap99-GB4 RH Map	X	264.58	UniSTS
Whitehead-RH Map	X	228.4	UniSTS
Whitehead-YAC Contig Map	X		UniSTS
NCBI RH Map	X	531.7	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	adipose tissue	appendage	entire extraembryonic component	pharyngeal arch
High
Medium			1	1		1				7	269	1
Low	1	3	3	2	42	1	2	6	2	31	113	4			1		1
Below cutoff	314	547	154	57	393	38	354	350	361	97	199	170	23	122	232	2

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001190956	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001320313	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_014237	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_135201	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC109633	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC136365	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC244257	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC245062	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ133004	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK225744	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK313961	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY358321	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC034624	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC070279	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC121045	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC121046	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471080	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068270	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB046002	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB049415	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF458743	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000265707 ⟹ ENSP00000265707

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	39,584,568 - 39,730,065 (+)	Ensembl

RefSeq Acc Id:

ENST00000379866 ⟹ ENSP00000369195

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	39,584,581 - 39,730,064 (+)	Ensembl

RefSeq Acc Id:

ENST00000520001 ⟹ ENSP00000429335

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	39,584,489 - 39,610,744 (+)	Ensembl

RefSeq Acc Id:

ENST00000520087 ⟹ ENSP00000428083

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	39,584,623 - 39,729,968 (+)	Ensembl

RefSeq Acc Id:

ENST00000520559

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	39,604,627 - 39,610,744 (+)	Ensembl

RefSeq Acc Id:

ENST00000520772 ⟹ ENSP00000429908

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	39,584,585 - 39,611,575 (+)	Ensembl

RefSeq Acc Id:

ENST00000523755

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	39,685,130 - 39,730,062 (+)	Ensembl

RefSeq Acc Id:

ENST00000524117

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	39,685,174 - 39,723,958 (+)	Ensembl

RefSeq Acc Id:

NM_001190956 ⟹ NP_001177885

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	39,584,568 - 39,611,576 (+)	NCBI
GRCh37	8	39,442,087 - 39,587,583 (+)	RGD
Celera	8	38,393,916 - 38,539,440 (+)	RGD
HuRef	8	37,975,660 - 38,121,135 (+)	ENTREZGENE
CHM1_1	8	39,489,004 - 39,516,007 (+)	NCBI
T2T-CHM13v2.0	8	39,861,797 - 39,888,808 (+)	NCBI

Sequence:

show sequence

AACGCTGCTCAACGGTCTCTGTCCTTGGCTGTGGCTCCTGCGCTCTGGCTGAGCCATGTTCCTT
CTCCTCGCCCTCCTCACTGAGCTTGGAAGACTGCAAGCCCACGAAGGTTCTGAAGGAATATTTC
TGCATGTCACAGTTCCACGGAAGATTAAGTCAAATGACAGTGAAGTTTCAGAGAGGAAGATGAT
TTACATCATTACAATTGATGGACAACCTTACACTCTACATCTCGGAAAACAATCATTCTTACCC
CAGAACTTTTTGGTTTATACATATAATGAAACTGGATCTTTGCATTCTGTGTCTCCATATTTTA
TGATGCATTGCCATTACCAAGGATATGCTGCCGAATTTCCAAATTCATTTGTGACACTCAGTAT
ATGTTCTGGTCTCAGGGGATTTCTCCAGTTTGAAAATATCAGTTATGGAATTGAACCAGTAGAA
TCTTCAGCAAGATTTGAGCATATAATTTATCAAATGAAAAATAATGATCCAAATGTATCCATTT
TAGCAGTAAATTACAGTCATATTTGGCAGAAAGACCAGCCCTACAAAGTTCCTTTAAACTCACA
GGTGACTGTCATCATTCTGATGTTATGACATACTAGAACATTGCCTGTGTAGTTTTCTTGTAAA
TCATGAAAGGAATTTAGTTAGCTGTTGAGTAGGAATATTAAATTTTATGTATTTTTCTACCTTT
AAATAAAACATTGAAACTTCATCTAAAATATTTGGAAAGTTACATATTTCAAGCTTAATATTTT
ATGATGTATTATGTAACATTAATTTTTATATTTTTTTCAAACAAAATGATACTATTGAAAAAGT
TTAGAAATGCAGAAAGAACAGAGTCACTGTTATTCTAGTACCTTGGTAAAATTACTTTTAATAT
TTTGTTATATATCTTACATACTACCTGAACATATCTTTCTAAAATGCACAGCCATTTGCATGTT
GCCAGATGCTCTTAATTTGCTGGTAGACTAGGTATAGAATTCTTGCTGGCAGTTTCTTTCTTTC
AGCACTTTGAATATTTCAATCCATCACCATGTGGCCTCTGTTTTTTCTGATAAAAATATTCTAT
TATTCTTATTGGGAATTCCTTGGACAAAATGAGTTGCTTCTCTTTTGTTTCTTTTGAGATTCTT
CCTTTGCCTTTGTCTTATGGCAGTGTGCTTATCATGTTTCTATGAATGGATCTCTTTGTGTTTA
CCATACTTGGAGCTCAAAGCACTTCTTGGGTCTGTAAATGGATGTGTTTTGAAATTAAATTAGC
TTGTGTGAATCCTGAAAAAAAAAATCCCATGAAGCTATGAAACCAACTATCTGTATGGTTCCTA
GAGACTTCACACTTTTATTCTACTTTAAAATTTGTCTCGATTTTGTAGTTCATTATTGCCAAAA
GTATTTACTGGGATAAATAAAAAAAGCATTCTTCTCGGG

hide sequence

RefSeq Acc Id:

NM_001320313 ⟹ NP_001307242

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	39,584,568 - 39,730,065 (+)	NCBI
CHM1_1	8	39,489,004 - 39,634,486 (+)	NCBI
T2T-CHM13v2.0	8	39,861,797 - 40,007,263 (+)	NCBI

Sequence:

show sequence

AACGCTGCTCAACGGTCTCTGTCCTTGGCTGTGGCTCCTGCGCTCTGGCTGAGCCATGTTCCTT
CTCCTCGCCCTCCTCACTGAGCTTGGAAGACTGCAAGCCCACGAAGGTTCTGAAGGAATATTTC
TGCATGTCACAGTTCCACGGAAGATTAAGTCAAATGACAGTGAAGTTTCAGAGAGGAAGATGAT
TTACATCATTACAATTGATGGACAACCTTACACTCTACATCTCGGAAAACAATCATTCTTACCC
CAGAACTTTTTGGTTTATACATATAATGAAACTGGATCTTTGCATTCTGTGTCTCCATATTTTA
TGATGCATTGCCATTACCAAGGATATGCTGCCGAATTTCCAAATTCATTTGTGACACTCAGTAT
ATGTTCTGGTCTCAGGGGATTTCTCCAGTTTGAAAATATCAGTTATGGAATTGAACCAGTAGAA
TCTTCAGCAAGATTTGAGCATATAATTTATCAAATGAAAAATAATGATCCAAATGTATCCATTT
TAGCAGTAAATTACAGTCATATTTGGCAGAAAGACCAGCCCTACAAAGTTCCTTTAAACTCACA
GATAAAAAATCTTTCAAAACTATTACCCCAATATCTGGAAATATACATTATAGTGGAAAAAGCT
TTGATGTTTACCCAGTTCAAATTGACTGTTATACTGTCTTCCTTGGAATTGTGGTCAAATGAAA
ACCAGATTTCCACCAGTGGGGATGCTGATGATATATTACAAAGATTTTTGGCATGGAAACGGGA
CTATCTCATCCTACGGCCCCATGACATAGCATACTTACTTGTTTACAGGAAACATCCTAAATAT
GTGGGAGCAACATTTCCTGGCACTGTATGCAATAAAAGCTATGATGCAGGTATTGCTATGTATC
CAGATGCAATAGGTTTGGAGGGATTTTCGGTTATTATAGCTCAACTGCTTGGCCTTAATGTAGG
ATTAACATATGATGACATCACTCAGTGTTTCTGTCTGAGAGCTACATGCATCATGAATCATGAA
GCAGTGAGTGCCAGTGGTAGAAAGATTTTTAGCAACTGCAGCATGCACGACTATAGATATTTTG
TTTCAAAATTTGAGACTAAATGCCTTCAGAAGCTTTCAAATTTGCAACCATTACATCAAAATCA
ACCAGTGTGTGGTAATGGGATTTTGGAATCCAATGAAGAATGTGACTGTGGTAATAAAAATGAA
TGTCAATTTAAGAAGTGCTGTGATTATAACACATGTAAACTGAAGGGCTCAGTAAAATGTGGTT
CTGGACCATGTTGTACATCAAAGTGTGAGTTGTCAATAGCAGGCACTCCATGTAGAAAGAGTAT
TGATCCAGAGTGTGATTTTACAGAGTACTGCAATGGAACCTCTAGTAATTGTGTTCCTGACACT
TATGCATTGAATGGCCGTTTGTGCAAGTTGGGAACTGCCTATTGCTATAACGGACAATGTCAAA
CTACTGATAACCAGTGTGCCAAGATATTTGGAAAAGGTGCTCAAGGTGCTCCATTTGCCTGTTT
TAAAGAAGTTAATTCTCTGCATGAAAGATCTGAAAACTGTGGTTTTAAAAATTCACAACCATTA
CCTTGTGAACGGAAGGATGTTCTCTGTGGAAAATTAGCTTGTGTTCAGCCACATAAAAATGCTA
ATAAAAGTGACGCTCAATCTACAGTTTATTCATATATTCAAGACCATGTATGTGTATCTATAGC
CACTGGTTCCTCCATGAGATCAGATGGAACAGACAATGCCTATGTGGCTGATGGCACCATGTGT
GGTCCAGAAATGTACTGTGTAAATAAAACCTGCAGAAAAGTTCATTTAATGGGATATAACTGTA
ATGCCACCACAAAATGCAAAGGGAAAGGGATATGTAATAATTTTGGTAATTGTCAATGCTTCCC
TGGACATAGACCTCCAGATTGTAAATTCCAGTTTGGTTCCCCAGGGGGTAGTATTGATGATGGA
AATTTTCAGAAATCTGGTGACTTTTATACTGAAAAAGGCTACAATACACACTGGAACAACTGGT
TTATTCTGAGTTTCTGCATTTTTCTGCCGTTTTTCATAGTTTTCACCACTGTGATCTTTAAAAG
AAATGAAATAAGTAAATCATGTAACAGAGAGAATGCAGAGTATAATCGTAATTCATCCGTTGTA
TCAGAAAGCGATGACGTGGGACATTAATATTGCACAGAACTTCCATAGCAAATAACCTAAAGGA
ACGAATGTGCTTTATTTATAACCTTACGTTATCCCCAATGCATTGTAAATGTCAAACTTTTGGA
AAATAAAGCCTGCGTGCCCTCCCA

hide sequence

RefSeq Acc Id:

NM_014237 ⟹ NP_055052

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	39,584,568 - 39,730,065 (+)	NCBI
GRCh37	8	39,442,087 - 39,587,583 (+)	RGD
Build 36	8	39,561,299 - 39,706,644 (+)	NCBI Archive
Celera	8	38,393,916 - 38,539,440 (+)	RGD
HuRef	8	37,975,660 - 38,121,135 (+)	ENTREZGENE
CHM1_1	8	39,489,004 - 39,634,486 (+)	NCBI
T2T-CHM13v2.0	8	39,861,797 - 40,007,263 (+)	NCBI

Sequence:

show sequence

AACGCTGCTCAACGGTCTCTGTCCTTGGCTGTGGCTCCTGCGCTCTGGCTGAGCCATGTTCCTT
CTCCTCGCCCTCCTCACTGAGCTTGGAAGACTGCAAGCCCACGAAGGTTCTGAAGGAATATTTC
TGCATGTCACAGTTCCACGGAAGATTAAGTCAAATGACAGTGAAGTTTCAGAGAGGAAGATGAT
TTACATCATTACAATTGATGGACAACCTTACACTCTACATCTCGGAAAACAATCATTCTTACCC
CAGAACTTTTTGGTTTATACATATAATGAAACTGGATCTTTGCATTCTGTGTCTCCATATTTTA
TGATGCATTGCCATTACCAAGGATATGCTGCCGAATTTCCAAATTCATTTGTGACACTCAGTAT
ATGTTCTGGTCTCAGGGGATTTCTCCAGTTTGAAAATATCAGTTATGGAATTGAACCAGTAGAA
TCTTCAGCAAGATTTGAGCATATAATTTATCAAATGAAAAATAATGATCCAAATGTATCCATTT
TAGCAGTAAATTACAGTCATATTTGGCAGAAAGACCAGCCCTACAAAGTTCCTTTAAACTCACA
GATAAAAAATCTTTCAAAACTATTACCCCAATATCTGGAAATATACATTATAGTGGAAAAAGCT
TTGTATGATTATATGGGATCTGAAATGATGGCTGTAACACAAAAAATTGTCCAGGTTATTGGGC
TTGTCAACACTATGTTTACCCAGTTCAAATTGACTGTTATACTGTCTTCCTTGGAATTGTGGTC
AAATGAAAACCAGATTTCCACCAGTGGGGATGCTGATGATATATTACAAAGATTTTTGGCATGG
AAACGGGACTATCTCATCCTACGGCCCCATGACATAGCATACTTACTTGTTTACAGGAAACATC
CTAAATATGTGGGAGCAACATTTCCTGGCACTGTATGCAATAAAAGCTATGATGCAGGTATTGC
TATGTATCCAGATGCAATAGGTTTGGAGGGATTTTCGGTTATTATAGCTCAACTGCTTGGCCTT
AATGTAGGATTAACATATGATGACATCACTCAGTGTTTCTGTCTGAGAGCTACATGCATCATGA
ATCATGAAGCAGTGAGTGCCAGTGGTAGAAAGATTTTTAGCAACTGCAGCATGCACGACTATAG
ATATTTTGTTTCAAAATTTGAGACTAAATGCCTTCAGAAGCTTTCAAATTTGCAACCATTACAT
CAAAATCAACCAGTGTGTGGTAATGGGATTTTGGAATCCAATGAAGAATGTGACTGTGGTAATA
AAAATGAATGTCAATTTAAGAAGTGCTGTGATTATAACACATGTAAACTGAAGGGCTCAGTAAA
ATGTGGTTCTGGACCATGTTGTACATCAAAGTGTGAGTTGTCAATAGCAGGCACTCCATGTAGA
AAGAGTATTGATCCAGAGTGTGATTTTACAGAGTACTGCAATGGAACCTCTAGTAATTGTGTTC
CTGACACTTATGCATTGAATGGCCGTTTGTGCAAGTTGGGAACTGCCTATTGCTATAACGGACA
ATGTCAAACTACTGATAACCAGTGTGCCAAGATATTTGGAAAAGGTGCTCAAGGTGCTCCATTT
GCCTGTTTTAAAGAAGTTAATTCTCTGCATGAAAGATCTGAAAACTGTGGTTTTAAAAATTCAC
AACCATTACCTTGTGAACGGAAGGATGTTCTCTGTGGAAAATTAGCTTGTGTTCAGCCACATAA
AAATGCTAATAAAAGTGACGCTCAATCTACAGTTTATTCATATATTCAAGACCATGTATGTGTA
TCTATAGCCACTGGTTCCTCCATGAGATCAGATGGAACAGACAATGCCTATGTGGCTGATGGCA
CCATGTGTGGTCCAGAAATGTACTGTGTAAATAAAACCTGCAGAAAAGTTCATTTAATGGGATA
TAACTGTAATGCCACCACAAAATGCAAAGGGAAAGGGATATGTAATAATTTTGGTAATTGTCAA
TGCTTCCCTGGACATAGACCTCCAGATTGTAAATTCCAGTTTGGTTCCCCAGGGGGTAGTATTG
ATGATGGAAATTTTCAGAAATCTGGTGACTTTTATACTGAAAAAGGCTACAATACACACTGGAA
CAACTGGTTTATTCTGAGTTTCTGCATTTTTCTGCCGTTTTTCATAGTTTTCACCACTGTGATC
TTTAAAAGAAATGAAATAAGTAAATCATGTAACAGAGAGAATGCAGAGTATAATCGTAATTCAT
CCGTTGTATCAGAAAGCGATGACGTGGGACATTAATATTGCACAGAACTTCCATAGCAAATAAC
CTAAAGGAACGAATGTGCTTTATTTATAACCTTACGTTATCCCCAATGCATTGTAAATGTCAAA
CTTTTGGAAAATAAAGCCTGCGTGCCCTCCCA

hide sequence

RefSeq Acc Id:

NR_135201

RefSeq Status:

REVIEWED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	39,584,568 - 39,730,065 (+)	NCBI
CHM1_1	8	39,489,004 - 39,634,486 (+)	NCBI
T2T-CHM13v2.0	8	39,861,797 - 40,007,263 (+)	NCBI

Sequence:

show sequence

AACGCTGCTCAACGGTCTCTGTCCTTGGCTGTGGCTCCTGCGCTCTGGCTGAGCCATGTTCCTT
CTCCTCGCCCTCCTCACTGAGCTTGGAAGACTGCAAGCCCACGAAGGTTCTGAAGGAATATTTC
TGCATGTCACAGTTCCACGGAAGATTAAGTCAAATGACAGTGAAGTTTCAGAGAGGAAGATGAT
TTACATCATTACAATTGATGGACAACCTTACACTCTACATCTCGGAAAACAATCATTCTTACCC
CAGAACTTTTTGGTTTATACATATAATGAAACTGGATCTTTGCATTCTGTGTCTCCATATTTTA
TGATGCATTGCCATTACCAAGGATATGCTGCCGAATTTCCAAATTCATTTGTGACACTCAGTAT
ATGTTCTGGTCTCAGATAAAAAATCTTTCAAAACTATTACCCCAATATCTGGAAATATACATTA
TAGTGGAAAAAGCTTTGTATGATTATATGGGATCTGAAATGATGGCTGTAACACAAAAAATTGT
CCAGGTTATTGGGCTTGTCAACACTATGTTTACCCAGTTCAAATTGACTGTTATACTGTCTTCC
TTGGAATTGTGGTCAAATGAAAACCAGATTTCCACCAGTGGGGATGCTGATGATATATTACAAA
GATTTTTGGCATGGAAACGGGACTATCTCATCCTACGGCCCCATGACATAGCATACTTACTTGT
TTACAGGAAACATCCTAAATATGTGGGAGCAACATTTCCTGGCACTGTATGCAATAAAAGCTAT
GATGCAGGTATTGCTATGTATCCAGATGCAATAGGTTTGGAGGGATTTTCGGTTATTATAGCTC
AACTGCTTGGCCTTAATGTAGGATTAACATATGATGACATCACTCAGTGTTTCTGTCTGAGAGC
TACATGCATCATGAATCATGAAGCAGTGAATGTCAATTTAAGAAGTGCTGTGATTATAACACAT
GTAAACTGAAGGGCTCAGTAAAATGTGGTTCTGGACCATGTTGTACATCAAAGTGTGAGTTGTC
AATAGCAGGCACTCCATGTAGAAAGAGTATTGATCCAGAGTGTGATTTTACAGAGTACTGCAAT
GGAACCTCTAGTAATTGTGTTCCTGACACTTATGCATTGAATGGCCGTTTGTGCAAGTTGGGAA
CTGCCTATTGCTATAACGGACAATGTCAAACTACTGATAACCAGTGTGCCAAGATATTTGGAAA
AGGTGCTCAAGGTGCTCCATTTGCCTGTTTTAAAGAAGTTAATTCTCTGCATGAAAGATCTGAA
AACTGTGGTTTTAAAAATTCACAACCATTACCTTGTGAACGGAAGGATGTTCTCTGTGGAAAAT
TAGCTTGTGTTCAGCCACATAAAAATGCTAATAAAAGTGACGCTCAATCTACAGTTTATTCATA
TATTCAAGACCATGTATGTGTATCTATAGCCACTGGTTCCTCCATGAGATCAGATGGAACAGAC
AATGCCTATGTGGCTGATGGCACCATGTGTGGTCCAGAAATGTACTGTGTAAATAAAACCTGCA
GAAAAGTTCATTTAATGGGATATAACTGTAATGCCACCACAAAATGCAAAGGGAAAGGGATATG
TAATAATTTTGGTAATTGTCAATGCTTCCCTGGACATAGACCTCCAGATTGTAAATTCCAGTTT
GGTTCCCCAGGGGGTAGTATTGATGATGGAAATTTTCAGAAATCTGGTGACTTTTATACTGAAA
AAGGCTACAATACACACTGGAACAACTGGTTTATTCTGAGTTTCTGCATTTTTCTGCCGTTTTT
CATAGTTTTCACCACTGTGATCTTTAAAAGAAATGAAATAAGTAAATCATGTAACAGAGAGAAT
GCAGAGTATAATCGTAATTCATCCGTTGTATCAGAAAGCGATGACGTGGGACATTAATATTGCA
CAGAACTTCCATAGCAAATAACCTAAAGGAACGAATGTGCTTTATTTATAACCTTACGTTATCC
CCAATGCATTGTAAATGTCAAACTTTTGGAAAATAAAGCCTGCGTGCCCTCCCA

hide sequence

Protein Sequences


Protein RefSeqs	NP_001177885	(Get FASTA)	NCBI Sequence Viewer
	NP_001307242	(Get FASTA)	NCBI Sequence Viewer
	NP_055052	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH34624	(Get FASTA)	NCBI Sequence Viewer
	AAH70279	(Get FASTA)	NCBI Sequence Viewer
	AAI21046	(Get FASTA)	NCBI Sequence Viewer
	AAI21047	(Get FASTA)	NCBI Sequence Viewer
	AAQ88687	(Get FASTA)	NCBI Sequence Viewer
	BAG36677	(Get FASTA)	NCBI Sequence Viewer
	CAB40812	(Get FASTA)	NCBI Sequence Viewer
	EAW63276	(Get FASTA)	NCBI Sequence Viewer
	EAW63277	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000265707
	ENSP00000265707.5
	ENSP00000369195
	ENSP00000369195.1
	ENSP00000428083.1
	ENSP00000429335.1
	ENSP00000429908
	ENSP00000429908.1
	ENSP00000482348.1
	ENSP00000484966.2
	ENSP00000488128.1
	ENSP00000488176.1
	ENSP00000488816.1
GenBank Protein	Q9Y3Q7	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_055052 ⟸ NM_014237
- Peptide Label:	isoform 1 preproprotein
- UniProtKB:	Q6IRW9 (UniProtKB/Swiss-Prot), Q0VAI4 (UniProtKB/Swiss-Prot), B2R9Y0 (UniProtKB/Swiss-Prot), Q6UXJ9 (UniProtKB/Swiss-Prot), Q9Y3Q7 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MFLLLALLTELGRLQAHEGSEGIFLHVTVPRKIKSNDSEVSERKMIYIITIDGQPYTLHLGKQS FLPQNFLVYTYNETGSLHSVSPYFMMHCHYQGYAAEFPNSFVTLSICSGLRGFLQFENISYGIE PVESSARFEHIIYQMKNNDPNVSILAVNYSHIWQKDQPYKVPLNSQIKNLSKLLPQYLEIYIIV EKALYDYMGSEMMAVTQKIVQVIGLVNTMFTQFKLTVILSSLELWSNENQISTSGDADDILQRF LAWKRDYLILRPHDIAYLLVYRKHPKYVGATFPGTVCNKSYDAGIAMYPDAIGLEGFSVIIAQL LGLNVGLTYDDITQCFCLRATCIMNHEAVSASGRKIFSNCSMHDYRYFVSKFETKCLQKLSNLQ PLHQNQPVCGNGILESNEECDCGNKNECQFKKCCDYNTCKLKGSVKCGSGPCCTSKCELSIAGT PCRKSIDPECDFTEYCNGTSSNCVPDTYALNGRLCKLGTAYCYNGQCQTTDNQCAKIFGKGAQG APFACFKEVNSLHERSENCGFKNSQPLPCERKDVLCGKLACVQPHKNANKSDAQSTVYSYIQDH VCVSIATGSSMRSDGTDNAYVADGTMCGPEMYCVNKTCRKVHLMGYNCNATTKCKGKGICNNFG NCQCFPGHRPPDCKFQFGSPGGSIDDGNFQKSGDFYTEKGYNTHWNNWFILSFCIFLPFFIVFT TVIFKRNEISKSCNRENAEYNRNSSVVSESDDVGH hide sequence

RefSeq Acc Id:	NP_001177885 ⟸ NM_001190956
- Peptide Label:	isoform 2 precursor
- UniProtKB:	Q9Y3Q7 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MFLLLALLTELGRLQAHEGSEGIFLHVTVPRKIKSNDSEVSERKMIYIITIDGQPYTLHLGKQS FLPQNFLVYTYNETGSLHSVSPYFMMHCHYQGYAAEFPNSFVTLSICSGLRGFLQFENISYGIE PVESSARFEHIIYQMKNNDPNVSILAVNYSHIWQKDQPYKVPLNSQVTVIILML hide sequence

RefSeq Acc Id:	NP_001307242 ⟸ NM_001320313
- Peptide Label:	isoform 3 precursor
- UniProtKB:	Q9Y3Q7 (UniProtKB/Swiss-Prot), Q0VAI3 (UniProtKB/TrEMBL)
- Sequence:	show sequence MFLLLALLTELGRLQAHEGSEGIFLHVTVPRKIKSNDSEVSERKMIYIITIDGQPYTLHLGKQS FLPQNFLVYTYNETGSLHSVSPYFMMHCHYQGYAAEFPNSFVTLSICSGLRGFLQFENISYGIE PVESSARFEHIIYQMKNNDPNVSILAVNYSHIWQKDQPYKVPLNSQIKNLSKLLPQYLEIYIIV EKALMFTQFKLTVILSSLELWSNENQISTSGDADDILQRFLAWKRDYLILRPHDIAYLLVYRKH PKYVGATFPGTVCNKSYDAGIAMYPDAIGLEGFSVIIAQLLGLNVGLTYDDITQCFCLRATCIM NHEAVSASGRKIFSNCSMHDYRYFVSKFETKCLQKLSNLQPLHQNQPVCGNGILESNEECDCGN KNECQFKKCCDYNTCKLKGSVKCGSGPCCTSKCELSIAGTPCRKSIDPECDFTEYCNGTSSNCV PDTYALNGRLCKLGTAYCYNGQCQTTDNQCAKIFGKGAQGAPFACFKEVNSLHERSENCGFKNS QPLPCERKDVLCGKLACVQPHKNANKSDAQSTVYSYIQDHVCVSIATGSSMRSDGTDNAYVADG TMCGPEMYCVNKTCRKVHLMGYNCNATTKCKGKGICNNFGNCQCFPGHRPPDCKFQFGSPGGSI DDGNFQKSGDFYTEKGYNTHWNNWFILSFCIFLPFFIVFTTVIFKRNEISKSCNRENAEYNRNS SVVSESDDVGH hide sequence

RefSeq Acc Id:

ENSP00000429335 ⟸ ENST00000520001

RefSeq Acc Id:

ENSP00000428083 ⟸ ENST00000520087

RefSeq Acc Id:

ENSP00000429908 ⟸ ENST00000520772

RefSeq Acc Id:

ENSP00000369195 ⟸ ENST00000379866

RefSeq Acc Id:

ENSP00000265707 ⟸ ENST00000265707

Protein Domains

Disintegrin EGF-like Peptidase M12B Peptidase M12B propeptide

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9Y3Q7-F1-model_v2	AlphaFold	Q9Y3Q7	1-739	view protein structure

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:196	AgrOrtholog
COSMIC	ADAM18	COSMIC
Ensembl Genes	ENSG00000168619	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ENSG00000278548	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000265707	ENTREZGENE
	ENST00000265707.10	UniProtKB/Swiss-Prot
	ENST00000379866	ENTREZGENE
	ENST00000379866.5	UniProtKB/Swiss-Prot
	ENST00000520001.5	UniProtKB/TrEMBL
	ENST00000520087	ENTREZGENE
	ENST00000520087.5	UniProtKB/TrEMBL
	ENST00000520772	ENTREZGENE
	ENST00000520772.5	UniProtKB/Swiss-Prot
	ENST00000613609.4	UniProtKB/Swiss-Prot
	ENST00000614391.2	UniProtKB/TrEMBL
	ENST00000633688.1	UniProtKB/Swiss-Prot
	ENST00000633693.1	UniProtKB/TrEMBL
	ENST00000633768.1	UniProtKB/Swiss-Prot
Gene3D-CATH	3.40.390.10	UniProtKB/Swiss-Prot
	4.10.70.10	UniProtKB/Swiss-Prot
GTEx	ENSG00000168619	GTEx
	ENSG00000278548	GTEx
HGNC ID	HGNC:196	ENTREZGENE
Human Proteome Map	ADAM18	Human Proteome Map
InterPro	ADAM_Cys-rich	UniProtKB/Swiss-Prot
	Disintegrin_CS	UniProtKB/Swiss-Prot
	Disintegrin_dom	UniProtKB/Swiss-Prot
	Disintegrin_dom_sf	UniProtKB/Swiss-Prot
	MetalloPept_cat_dom_sf	UniProtKB/Swiss-Prot
	Peptidase_M12B	UniProtKB/Swiss-Prot
	Peptidase_M12B_N	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Reprolysin_adamalysin	UniProtKB/Swiss-Prot
KEGG Report	hsa:8749	UniProtKB/Swiss-Prot
NCBI Gene	8749	ENTREZGENE
OMIM	619495	OMIM
PANTHER	ADAM A DISINTEGRIN AND METALLOPROTEASE DOMAIN	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	DISINTEGRIN AND METALLOPROTEINASE DOMAIN-CONTAINING PROTEIN 18	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	ADAM_CR	UniProtKB/Swiss-Prot
	Disintegrin	UniProtKB/Swiss-Prot
	Pep_M12B_propep	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Reprolysin	UniProtKB/Swiss-Prot
PharmGKB	PA24513	PharmGKB
PROSITE	ADAM_MEPRO	UniProtKB/Swiss-Prot
	DISINTEGRIN_1	UniProtKB/Swiss-Prot
	DISINTEGRIN_2	UniProtKB/Swiss-Prot
SMART	ACR	UniProtKB/Swiss-Prot
	DISIN	UniProtKB/Swiss-Prot
Superfamily-SCOP	Metalloproteases ('zincins'), catalytic domain	UniProtKB/Swiss-Prot
	SSF57552	UniProtKB/Swiss-Prot
UniProt	ADA18_HUMAN	UniProtKB/Swiss-Prot
	B2R9Y0	ENTREZGENE
	E5RIP0_HUMAN	UniProtKB/TrEMBL
	E5RK96_HUMAN	UniProtKB/TrEMBL
	Q0VAI3	ENTREZGENE, UniProtKB/TrEMBL
	Q0VAI4	ENTREZGENE
	Q6IRW9	ENTREZGENE
	Q6UXJ9	ENTREZGENE
	Q9Y3Q7	ENTREZGENE
UniProt Secondary	B2R9Y0	UniProtKB/Swiss-Prot
	Q0VAI4	UniProtKB/Swiss-Prot
	Q6IRW9	UniProtKB/Swiss-Prot
	Q6UXJ9	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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Imported Disease Annotations - ClinVar