ADAM20 (ADAM metallopeptidase domain 20) - Rat Genome Database

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Gene: ADAM20 (ADAM metallopeptidase domain 20) Homo sapiens
Analyze
Symbol: ADAM20
Name: ADAM metallopeptidase domain 20
RGD ID: 1345378
HGNC Page HGNC:199
Description: Predicted to enable metalloendopeptidase activity. Predicted to be involved in male gonad development and proteolysis. Predicted to be located in membrane. Predicted to be active in external side of plasma membrane and sperm head plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: a disintegrin and metalloproteinase domain 20; ADAM 20; disintegrin and metalloproteinase domain-containing protein 20
RGD Orthologs
Mouse
Dog
Squirrel
Pig
Alliance Orthologs
More Info more info ...
Related Pseudogenes: ADAM20P1   ADAM20P2   ADAM20P3   LOC100420563   LOC646548  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381470,522,358 - 70,579,452 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1470,522,358 - 70,535,015 (-)EnsemblGRCh38hg38GRCh38
GRCh371470,989,075 - 71,001,721 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361470,058,831 - 70,071,485 (-)NCBINCBI36Build 36hg18NCBI36
Build 341470,058,831 - 70,071,485NCBI
Celera1451,053,033 - 51,065,687 (-)NCBICelera
Cytogenetic Map14q24.2NCBI
HuRef1451,157,745 - 51,170,399 (-)NCBIHuRef
CHM1_11470,927,229 - 70,939,873 (-)NCBICHM1_1
T2T-CHM13v2.01464,728,380 - 64,785,473 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:9469942   PMID:10524237   PMID:11807715   PMID:12477932   PMID:21873635   PMID:29416755   PMID:29507755   PMID:34857952  


Genomics

Comparative Map Data
ADAM20
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381470,522,358 - 70,579,452 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1470,522,358 - 70,535,015 (-)EnsemblGRCh38hg38GRCh38
GRCh371470,989,075 - 71,001,721 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361470,058,831 - 70,071,485 (-)NCBINCBI36Build 36hg18NCBI36
Build 341470,058,831 - 70,071,485NCBI
Celera1451,053,033 - 51,065,687 (-)NCBICelera
Cytogenetic Map14q24.2NCBI
HuRef1451,157,745 - 51,170,399 (-)NCBIHuRef
CHM1_11470,927,229 - 70,939,873 (-)NCBICHM1_1
T2T-CHM13v2.01464,728,380 - 64,785,473 (-)NCBIT2T-CHM13v2.0
Adam20
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39841,246,310 - 41,250,379 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl841,246,310 - 41,250,340 (+)EnsemblGRCm39 Ensembl
GRCm38840,793,273 - 40,797,342 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl840,793,273 - 40,797,303 (+)EnsemblGRCm38mm10GRCm38
MGSCv37841,878,627 - 41,882,657 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36842,293,672 - 42,295,954 (+)NCBIMGSCv36mm8
Celera843,426,818 - 43,430,857 (+)NCBICelera
Cytogenetic Map8A4NCBI
cM Map823.89NCBI
ADAM20
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1844,263,467 - 44,266,287 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl844,264,008 - 44,266,287 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha843,928,823 - 43,931,643 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0844,487,859 - 44,490,680 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl844,488,401 - 44,490,680 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1844,139,990 - 44,142,813 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0844,186,840 - 44,189,658 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0844,547,780 - 44,550,604 (-)NCBIUU_Cfam_GSD_1.0
LOC101958461
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440864031,891,083 - 31,926,366 (+)NCBIHiC_Itri_2
SpeTri2.0NW_004936488142,777 - 145,399 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LOC100739754
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl794,127,736 - 94,129,904 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1794,125,901 - 94,131,479 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.27100,392,940 - 100,439,037 (-)NCBISscrofa10.2Sscrofa10.2susScr3

Variants

.
Variants in ADAM20
53 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1 copy number loss See cases [RCV000134154] Chr14:69562099..81975384 [GRCh38]
Chr14:70028816..82441728 [GRCh37]
Chr14:69098569..81511481 [NCBI36]
Chr14:14q24.1-31.1
pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 copy number gain See cases [RCV000135543] Chr14:20151149..106855263 [GRCh38]
Chr14:20619308..107263478 [GRCh37]
Chr14:19689148..106334523 [NCBI36]
Chr14:14q11.2-32.33
pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 copy number gain See cases [RCV000143373] Chr14:20043514..106877229 [GRCh38]
Chr14:20511673..107285437 [GRCh37]
Chr14:19581513..106356482 [NCBI36]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 copy number gain See cases [RCV000446256] Chr14:19794561..107234280 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q23.2-32.33(chr14:62493932-107285437)x3 copy number gain See cases [RCV000448557] Chr14:62493932..107285437 [GRCh37]
Chr14:14q23.2-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) copy number gain See cases [RCV000512041] Chr14:20511673..107285437 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
NM_003814.5(ADAM20):c.1736C>T (p.Ser579Phe) single nucleotide variant not specified [RCV004308290] Chr14:70523022 [GRCh38]
Chr14:70989739 [GRCh37]
Chr14:14q24.2
uncertain significance
GRCh37/hg19 14q24.1-24.2(chr14:68035240-73568130)x1 copy number loss See cases [RCV000512344] Chr14:68035240..73568130 [GRCh37]
Chr14:14q24.1-24.2
likely pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 copy number gain not provided [RCV000738413] Chr14:19280733..107287663 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 copy number gain not provided [RCV000738414] Chr14:19327823..107287663 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 copy number gain not provided [RCV000738412] Chr14:19000422..107289053 [GRCh37]
Chr14:14q11.1-32.33
pathogenic
NM_003814.5(ADAM20):c.1048A>G (p.Met350Val) single nucleotide variant not specified [RCV004304178] Chr14:70523710 [GRCh38]
Chr14:70990427 [GRCh37]
Chr14:14q24.2
uncertain significance
GRCh37/hg19 14q24.2(chr14:70911391-70992969)x1 copy number loss not provided [RCV001259787] Chr14:70911391..70992969 [GRCh37]
Chr14:14q24.2
uncertain significance
GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3 copy number gain 14q22.2q24.3 duplication [RCV001506967] Chr14:54654001..75828024 [GRCh37]
Chr14:14q22.2-24.3
likely pathogenic
GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2 copy number gain See cases [RCV002286356] Chr14:37671058..106985955 [GRCh37]
Chr14:14q13.3-32.33
pathogenic
NM_003814.5(ADAM20):c.86C>T (p.Ser29Phe) single nucleotide variant not specified [RCV004192173] Chr14:70524672 [GRCh38]
Chr14:70991389 [GRCh37]
Chr14:14q24.2
uncertain significance
NM_003814.5(ADAM20):c.1262G>A (p.Cys421Tyr) single nucleotide variant not specified [RCV004148047] Chr14:70523496 [GRCh38]
Chr14:70990213 [GRCh37]
Chr14:14q24.2
uncertain significance
NM_003814.5(ADAM20):c.1471G>T (p.Val491Leu) single nucleotide variant not specified [RCV004204936] Chr14:70523287 [GRCh38]
Chr14:70990004 [GRCh37]
Chr14:14q24.2
uncertain significance
NM_003814.5(ADAM20):c.1261T>C (p.Cys421Arg) single nucleotide variant not specified [RCV004227205] Chr14:70523497 [GRCh38]
Chr14:70990214 [GRCh37]
Chr14:14q24.2
uncertain significance
NM_003814.5(ADAM20):c.-90A>G single nucleotide variant not specified [RCV004154334] Chr14:70524847 [GRCh38]
Chr14:70991564 [GRCh37]
Chr14:14q24.2
uncertain significance
NM_003814.5(ADAM20):c.2075G>A (p.Arg692His) single nucleotide variant not specified [RCV004104352] Chr14:70522683 [GRCh38]
Chr14:70989400 [GRCh37]
Chr14:14q24.2
uncertain significance
NM_003814.5(ADAM20):c.1150T>C (p.Tyr384His) single nucleotide variant not specified [RCV004095260] Chr14:70523608 [GRCh38]
Chr14:70990325 [GRCh37]
Chr14:14q24.2
uncertain significance
NM_003814.5(ADAM20):c.1621T>G (p.Phe541Val) single nucleotide variant not specified [RCV004120318] Chr14:70523137 [GRCh38]
Chr14:70989854 [GRCh37]
Chr14:14q24.2
uncertain significance
NM_003814.5(ADAM20):c.403A>G (p.Met135Val) single nucleotide variant not specified [RCV004083130] Chr14:70524355 [GRCh38]
Chr14:70991072 [GRCh37]
Chr14:14q24.2
likely benign
NM_003814.5(ADAM20):c.-71C>G single nucleotide variant not specified [RCV004145804] Chr14:70524828 [GRCh38]
Chr14:70991545 [GRCh37]
Chr14:14q24.2
uncertain significance
NM_003814.5(ADAM20):c.554A>G (p.Glu185Gly) single nucleotide variant not specified [RCV004195640] Chr14:70524204 [GRCh38]
Chr14:70990921 [GRCh37]
Chr14:14q24.2
uncertain significance
NM_003814.5(ADAM20):c.1565A>G (p.Asp522Gly) single nucleotide variant not specified [RCV004181205] Chr14:70523193 [GRCh38]
Chr14:70989910 [GRCh37]
Chr14:14q24.2
uncertain significance
NM_003814.5(ADAM20):c.1842T>G (p.Cys614Trp) single nucleotide variant not specified [RCV004241307] Chr14:70522916 [GRCh38]
Chr14:70989633 [GRCh37]
Chr14:14q24.2
uncertain significance
NM_003814.5(ADAM20):c.1996A>G (p.Lys666Glu) single nucleotide variant not specified [RCV004224364] Chr14:70522762 [GRCh38]
Chr14:70989479 [GRCh37]
Chr14:14q24.2
uncertain significance
NM_003814.5(ADAM20):c.95G>T (p.Arg32Met) single nucleotide variant not specified [RCV004182422] Chr14:70524663 [GRCh38]
Chr14:70991380 [GRCh37]
Chr14:14q24.2
uncertain significance
NM_003814.5(ADAM20):c.571A>G (p.Asn191Asp) single nucleotide variant not specified [RCV004192644] Chr14:70524187 [GRCh38]
Chr14:70990904 [GRCh37]
Chr14:14q24.2
uncertain significance
NM_003814.5(ADAM20):c.511A>G (p.Met171Val) single nucleotide variant not specified [RCV004168941] Chr14:70524247 [GRCh38]
Chr14:70990964 [GRCh37]
Chr14:14q24.2
uncertain significance
NM_003814.5(ADAM20):c.1131C>A (p.Ser377Arg) single nucleotide variant not specified [RCV004105463] Chr14:70523627 [GRCh38]
Chr14:70990344 [GRCh37]
Chr14:14q24.2
uncertain significance
NM_003814.5(ADAM20):c.932C>A (p.Ala311Asp) single nucleotide variant not specified [RCV004082683] Chr14:70523826 [GRCh38]
Chr14:70990543 [GRCh37]
Chr14:14q24.2
uncertain significance
NM_003814.5(ADAM20):c.848A>G (p.Lys283Arg) single nucleotide variant not specified [RCV004275794] Chr14:70523910 [GRCh38]
Chr14:70990627 [GRCh37]
Chr14:14q24.2
uncertain significance
NM_003814.5(ADAM20):c.253G>A (p.Ala85Thr) single nucleotide variant not specified [RCV004280894] Chr14:70524505 [GRCh38]
Chr14:70991222 [GRCh37]
Chr14:14q24.2
likely benign
NM_003814.5(ADAM20):c.2062A>T (p.Met688Leu) single nucleotide variant not specified [RCV004266291] Chr14:70522696 [GRCh38]
Chr14:70989413 [GRCh37]
Chr14:14q24.2
uncertain significance
NM_003814.5(ADAM20):c.220G>A (p.Val74Ile) single nucleotide variant not specified [RCV004278621] Chr14:70524538 [GRCh38]
Chr14:70991255 [GRCh37]
Chr14:14q24.2
uncertain significance
NM_003814.5(ADAM20):c.716A>G (p.Asn239Ser) single nucleotide variant not specified [RCV004248842] Chr14:70524042 [GRCh38]
Chr14:70990759 [GRCh37]
Chr14:14q24.2
uncertain significance
NM_003814.5(ADAM20):c.1305T>G (p.Cys435Trp) single nucleotide variant not specified [RCV004277345] Chr14:70523453 [GRCh38]
Chr14:70990170 [GRCh37]
Chr14:14q24.2
uncertain significance
NM_003814.5(ADAM20):c.1610A>G (p.Gln537Arg) single nucleotide variant not specified [RCV004277346] Chr14:70523148 [GRCh38]
Chr14:70989865 [GRCh37]
Chr14:14q24.2
uncertain significance
NM_003814.5(ADAM20):c.1676T>C (p.Ile559Thr) single nucleotide variant not specified [RCV004314430] Chr14:70523082 [GRCh38]
Chr14:70989799 [GRCh37]
Chr14:14q24.2
uncertain significance
NM_003814.5(ADAM20):c.1520C>T (p.Thr507Met) single nucleotide variant not specified [RCV004320182] Chr14:70523238 [GRCh38]
Chr14:70989955 [GRCh37]
Chr14:14q24.2
uncertain significance
NM_003814.5(ADAM20):c.1330G>C (p.Gly444Arg) single nucleotide variant not specified [RCV004353030] Chr14:70523428 [GRCh38]
Chr14:70990145 [GRCh37]
Chr14:14q24.2
uncertain significance
NM_003814.5(ADAM20):c.509C>A (p.Pro170His) single nucleotide variant not specified [RCV004358370] Chr14:70524249 [GRCh38]
Chr14:70990966 [GRCh37]
Chr14:14q24.2
uncertain significance
GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3 copy number gain not provided [RCV003485036] Chr14:58894502..107227240 [GRCh37]
Chr14:14q23.1-32.33
pathogenic
NM_003814.5(ADAM20):c.487A>G (p.Ser163Gly) single nucleotide variant not specified [RCV004441635] Chr14:70524271 [GRCh38]
Chr14:70990988 [GRCh37]
Chr14:14q24.2
uncertain significance
NM_003814.5(ADAM20):c.577A>G (p.Thr193Ala) single nucleotide variant not specified [RCV004441646] Chr14:70524181 [GRCh38]
Chr14:70990898 [GRCh37]
Chr14:14q24.2
uncertain significance
NM_003814.5(ADAM20):c.872T>G (p.Leu291Arg) single nucleotide variant not specified [RCV004441540] Chr14:70523886 [GRCh38]
Chr14:70990603 [GRCh37]
Chr14:14q24.2
uncertain significance
NM_003814.5(ADAM20):c.1652A>G (p.Tyr551Cys) single nucleotide variant not specified [RCV004441586] Chr14:70523106 [GRCh38]
Chr14:70989823 [GRCh37]
Chr14:14q24.2
uncertain significance
NM_003814.5(ADAM20):c.1679T>C (p.Met560Thr) single nucleotide variant not specified [RCV004441593] Chr14:70523079 [GRCh38]
Chr14:70989796 [GRCh37]
Chr14:14q24.2
uncertain significance
NM_003814.5(ADAM20):c.1865G>A (p.Arg622His) single nucleotide variant not specified [RCV004441599] Chr14:70522893 [GRCh38]
Chr14:70989610 [GRCh37]
Chr14:14q24.2
likely benign
NM_003814.5(ADAM20):c.2098C>T (p.Leu700Phe) single nucleotide variant not specified [RCV004441608] Chr14:70522660 [GRCh38]
Chr14:70989377 [GRCh37]
Chr14:14q24.2
uncertain significance
NM_003814.5(ADAM20):c.118C>T (p.Pro40Ser) single nucleotide variant not specified [RCV004441612] Chr14:70524640 [GRCh38]
Chr14:70991357 [GRCh37]
Chr14:14q24.2
likely benign
NM_003814.5(ADAM20):c.196C>T (p.Arg66Trp) single nucleotide variant not specified [RCV004441613] Chr14:70524562 [GRCh38]
Chr14:70991279 [GRCh37]
Chr14:14q24.2
uncertain significance
NM_003814.5(ADAM20):c.737A>G (p.His246Arg) single nucleotide variant not specified [RCV004441657] Chr14:70524021 [GRCh38]
Chr14:70990738 [GRCh37]
Chr14:14q24.2
uncertain significance
NM_003814.5(ADAM20):c.683C>T (p.Thr228Ile) single nucleotide variant not specified [RCV004441651] Chr14:70524075 [GRCh38]
Chr14:70990792 [GRCh37]
Chr14:14q24.2
uncertain significance
NM_003814.5(ADAM20):c.1421T>C (p.Leu474Pro) single nucleotide variant not specified [RCV004441572] Chr14:70523337 [GRCh38]
Chr14:70990054 [GRCh37]
Chr14:14q24.2
uncertain significance
NM_003814.5(ADAM20):c.1248A>C (p.Glu416Asp) single nucleotide variant not specified [RCV004441555] Chr14:70523510 [GRCh38]
Chr14:70990227 [GRCh37]
Chr14:14q24.2
uncertain significance
NM_003814.5(ADAM20):c.1127T>G (p.Phe376Cys) single nucleotide variant not specified [RCV004441547] Chr14:70523631 [GRCh38]
Chr14:70990348 [GRCh37]
Chr14:14q24.2
uncertain significance
NM_003814.5(ADAM20):c.734A>G (p.Tyr245Cys) single nucleotide variant not specified [RCV004612476] Chr14:70524024 [GRCh38]
Chr14:70990741 [GRCh37]
Chr14:14q24.2
uncertain significance
NM_003814.5(ADAM20):c.235A>T (p.Asn79Tyr) single nucleotide variant not specified [RCV004612484] Chr14:70524523 [GRCh38]
Chr14:70991240 [GRCh37]
Chr14:14q24.2
uncertain significance
NM_003814.5(ADAM20):c.1403A>G (p.Gln468Arg) single nucleotide variant not specified [RCV004612468] Chr14:70523355 [GRCh38]
Chr14:70990072 [GRCh37]
Chr14:14q24.2
uncertain significance
NM_003814.5(ADAM20):c.1477G>A (p.Asp493Asn) single nucleotide variant not specified [RCV004612451] Chr14:70523281 [GRCh38]
Chr14:70989998 [GRCh37]
Chr14:14q24.2
uncertain significance
NM_003814.5(ADAM20):c.1989C>G (p.Cys663Trp) single nucleotide variant not specified [RCV004612504] Chr14:70522769 [GRCh38]
Chr14:70989486 [GRCh37]
Chr14:14q24.2
uncertain significance
NM_003814.5(ADAM20):c.694C>T (p.His232Tyr) single nucleotide variant not specified [RCV004612494] Chr14:70524064 [GRCh38]
Chr14:70990781 [GRCh37]
Chr14:14q24.2
uncertain significance
NM_003814.5(ADAM20):c.155G>A (p.Gly52Asp) single nucleotide variant not specified [RCV004612462] Chr14:70524603 [GRCh38]
Chr14:70991320 [GRCh37]
Chr14:14q24.2
uncertain significance
NM_003814.5(ADAM20):c.1463A>C (p.Asp488Ala) single nucleotide variant not specified [RCV004895809] Chr14:70523295 [GRCh38]
Chr14:70990012 [GRCh37]
Chr14:14q24.2
uncertain significance
NM_003814.5(ADAM20):c.1817G>T (p.Gly606Val) single nucleotide variant not specified [RCV004895032] Chr14:70522941 [GRCh38]
Chr14:70989658 [GRCh37]
Chr14:14q24.2
uncertain significance
NM_003814.5(ADAM20):c.643G>A (p.Val215Met) single nucleotide variant not specified [RCV004895024] Chr14:70524115 [GRCh38]
Chr14:70990832 [GRCh37]
Chr14:14q24.2
uncertain significance
NM_003814.5(ADAM20):c.-117A>T single nucleotide variant not specified [RCV004895029] Chr14:70524874 [GRCh38]
Chr14:70991591 [GRCh37]
Chr14:14q24.2
uncertain significance
NM_003814.5(ADAM20):c.107A>G (p.Tyr36Cys) single nucleotide variant not specified [RCV004895036] Chr14:70524651 [GRCh38]
Chr14:70991368 [GRCh37]
Chr14:14q24.2
uncertain significance
NM_003814.5(ADAM20):c.-63G>A single nucleotide variant not specified [RCV004895043] Chr14:70524820 [GRCh38]
Chr14:70991537 [GRCh37]
Chr14:14q24.2
uncertain significance
NM_003814.5(ADAM20):c.1469A>G (p.Tyr490Cys) single nucleotide variant not specified [RCV004895818] Chr14:70523289 [GRCh38]
Chr14:70990006 [GRCh37]
Chr14:14q24.2
uncertain significance
NM_003814.5(ADAM20):c.358G>A (p.Glu120Lys) single nucleotide variant not specified [RCV004895829] Chr14:70524400 [GRCh38]
Chr14:70991117 [GRCh37]
Chr14:14q24.2
uncertain significance
NM_003814.5(ADAM20):c.860T>C (p.Leu287Pro) single nucleotide variant not specified [RCV004895716] Chr14:70523898 [GRCh38]
Chr14:70990615 [GRCh37]
Chr14:14q24.2
uncertain significance
NM_003814.5(ADAM20):c.1153T>C (p.Trp385Arg) single nucleotide variant not specified [RCV004895733] Chr14:70523605 [GRCh38]
Chr14:70990322 [GRCh37]
Chr14:14q24.2
uncertain significance
NM_003814.5(ADAM20):c.752A>G (p.Asp251Gly) single nucleotide variant not specified [RCV004895795] Chr14:70524006 [GRCh38]
Chr14:70990723 [GRCh37]
Chr14:14q24.2
uncertain significance
NM_003814.5(ADAM20):c.1A>G (p.Met1Val) single nucleotide variant not specified [RCV004895835] Chr14:70524757 [GRCh38]
Chr14:70991474 [GRCh37]
Chr14:14q24.2
uncertain significance
NM_003814.5(ADAM20):c.2054T>C (p.Leu685Ser) single nucleotide variant not specified [RCV004895768] Chr14:70522704 [GRCh38]
Chr14:70989421 [GRCh37]
Chr14:14q24.2
uncertain significance
NM_003814.5(ADAM20):c.1280G>A (p.Arg427Gln) single nucleotide variant not specified [RCV004895786] Chr14:70523478 [GRCh38]
Chr14:70990195 [GRCh37]
Chr14:14q24.2
likely benign
NM_003814.5(ADAM20):c.476A>G (p.Tyr159Cys) single nucleotide variant not specified [RCV004895042] Chr14:70524282 [GRCh38]
Chr14:70990999 [GRCh37]
Chr14:14q24.2
uncertain significance
NM_003814.5(ADAM20):c.346G>C (p.Glu116Gln) single nucleotide variant not specified [RCV004895743] Chr14:70524412 [GRCh38]
Chr14:70991129 [GRCh37]
Chr14:14q24.2
uncertain significance
NM_003814.5(ADAM20):c.1542A>T (p.Gln514His) single nucleotide variant not specified [RCV004895759] Chr14:70523216 [GRCh38]
Chr14:70989933 [GRCh37]
Chr14:14q24.2
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:48
Count of miRNA genes:48
Interacting mature miRNAs:48
Transcripts:ENST00000256389
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.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597390015GWAS1486089_Hlow density lipoprotein cholesterol measurement QTL GWAS1486089 (human)3e-10low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)147054475270544753Human

Markers in Region
RH103432  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371470,989,994 - 70,990,137UniSTSGRCh37
Build 361470,059,747 - 70,059,890RGDNCBI36
Celera1451,053,949 - 51,054,092RGD
Cytogenetic Map14q24.1UniSTS
HuRef1451,158,661 - 51,158,804UniSTS
GeneMap99-GB4 RH Map14176.86UniSTS
ADAM20_695  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371470,989,055 - 70,989,695UniSTSGRCh37
Build 361470,058,808 - 70,059,448RGDNCBI36
Celera1451,053,010 - 51,053,650RGD
HuRef1451,157,722 - 51,158,362UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1186 2281 2717 2175 4710 1616 2112 4 529 1491 374 2126 6423 5882 45 3618 730 1640 1481 163

Sequence


Ensembl Acc Id: ENST00000256389   ⟹   ENSP00000256389
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1470,522,358 - 70,535,004 (-)Ensembl
Ensembl Acc Id: ENST00000652041   ⟹   ENSP00000498512
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1470,522,362 - 70,535,015 (-)Ensembl
RefSeq Acc Id: NM_003814   ⟹   NP_003805
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381470,522,358 - 70,535,004 (-)NCBI
GRCh371470,989,078 - 71,022,756 (-)NCBI
Build 361470,058,831 - 70,071,485 (-)NCBI Archive
Celera1451,053,033 - 51,065,687 (-)RGD
HuRef1451,157,745 - 51,170,399 (-)ENTREZGENE
CHM1_11470,927,229 - 70,939,873 (-)NCBI
T2T-CHM13v2.01464,728,380 - 64,741,026 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005268151   ⟹   XP_005268208
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381470,522,358 - 70,579,452 (-)NCBI
GRCh371470,989,078 - 71,022,756 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054376861   ⟹   XP_054232836
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01464,728,380 - 64,785,473 (-)NCBI
RefSeq Acc Id: NP_003805   ⟸   NM_003814
- Peptide Label: preproprotein
- UniProtKB: Q6GTZ1 (UniProtKB/Swiss-Prot),   O43506 (UniProtKB/Swiss-Prot),   Q9UKJ9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005268208   ⟸   XM_005268151
- Peptide Label: isoform X1
- UniProtKB: A0A494C0E3 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000256389   ⟸   ENST00000256389
Ensembl Acc Id: ENSP00000498512   ⟸   ENST00000652041
RefSeq Acc Id: XP_054232836   ⟸   XM_054376861
- Peptide Label: isoform X1
- UniProtKB: A0A494C0E3 (UniProtKB/TrEMBL)
Protein Domains
Disintegrin   EGF-like   Peptidase M12B

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O43506-F1-model_v2 AlphaFold O43506 1-726 view protein structure

Promoters
RGD ID:7228033
Promoter ID:EPDNEW_H19762
Type:multiple initiation site
Name:ADAM20_1
Description:ADAM metallopeptidase domain 20
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381470,534,995 - 70,535,055EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:199 AgrOrtholog
COSMIC ADAM20 COSMIC
Ensembl Genes ENSG00000134007 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000256389 ENTREZGENE
  ENST00000256389.5 UniProtKB/Swiss-Prot
  ENST00000652041.1 UniProtKB/TrEMBL
Gene3D-CATH 3.40.390.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  4.10.70.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000134007 GTEx
HGNC ID HGNC:199 ENTREZGENE
Human Proteome Map ADAM20 Human Proteome Map
InterPro ADAM_Cys-rich UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Disintegrin_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Disintegrin_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Disintegrin_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MetalloPept_cat_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_M12B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_M12B_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Reprolysin_adamalysin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:8748 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 8748 ENTREZGENE
OMIM 603712 OMIM
PANTHER ADAM A DISINTEGRIN AND METALLOPROTEASE DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DISINTEGRIN AND METALLOPROTEINASE DOMAIN-CONTAINING PROTEIN 20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ADAM_CR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Disintegrin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pep_M12B_propep UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Reprolysin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24516 PharmGKB
PRINTS DISINTEGRIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ADAM_MEPRO UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DISINTEGRIN_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DISINTEGRIN_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZINC_PROTEASE UniProtKB/Swiss-Prot
SMART ACR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DISIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Metalloproteases ('zincins'), catalytic domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57552 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A494C0E3 ENTREZGENE, UniProtKB/TrEMBL
  ADA20_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q6GTZ1 ENTREZGENE
  Q9UKJ9 ENTREZGENE
UniProt Secondary Q6GTZ1 UniProtKB/Swiss-Prot
  Q9UKJ9 UniProtKB/Swiss-Prot