A2ML1 (alpha-2-macroglobulin like 1)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
144568
Gene name Gene Name - the full gene name approved by the HGNC.
Alpha-2-macroglobulin like 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
A2ML1
Synonyms (NCBI Gene) Gene synonyms aliases
CPAMD9, OMS, p170
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12p13.31
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the alpha-macroglobulin superfamily. The encoded protein is thought to be an N-glycosylated monomeric protein that acts as an inhibitor of several proteases. It has been shown to form covalent interactions with proteases, and
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(6)
SNP ID Visualize variation Clinical significance Consequence
rs182743597 C>A Conflicting-interpretations-of-pathogenicity Non coding transcript variant, missense variant, coding sequence variant
rs201562272 G>A,T Uncertain-significance, conflicting-interpretations-of-pathogenicity Missense variant, non coding transcript variant, coding sequence variant
rs202067416 G>A,C Likely-benign, uncertain-significance, pathogenic Splice donor variant
rs745711489 ->CA Conflicting-interpretations-of-pathogenicity Coding sequence variant, genic upstream transcript variant, frameshift variant, non coding transcript variant
rs863224951 ->GGCTAAAT Risk-factor, pathogenic Frameshift variant, non coding transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(202)
miRTarBase ID miRNA Experiments Reference
MIRT648352 hsa-miR-216a-5p HITS-CLIP 23824327
MIRT628799 hsa-miR-1306-5p HITS-CLIP 23824327
MIRT631834 hsa-miR-6890-3p HITS-CLIP 23824327
MIRT648351 hsa-miR-6736-3p HITS-CLIP 23824327
MIRT680267 hsa-miR-5693 HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(9)
GO ID Ontology Definition Evidence Reference
GO:0004866 Function Endopeptidase inhibitor activity IEA
GO:0004867 Function Serine-type endopeptidase inhibitor activity IEA
GO:0005576 Component Extracellular region IEA
GO:0005615 Component Extracellular space IDA 16298998
GO:0005615 Component Extracellular space IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
610627 23336 ENSG00000166535
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID A8K2U0
Protein name Alpha-2-macroglobulin-like protein 1 (C3 and PZP-like alpha-2-macroglobulin domain-containing protein 9)
Protein function Is able to inhibit all four classes of proteinases by a unique 'trapping' mechanism. This protein has a peptide stretch, called the 'bait region' which contains specific cleavage sites for different proteinases. When a proteinase cleaves the bai
PDB 7Q1Y , 7Q5Z , 7Q60 , 7Q61 , 7Q62
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01835 MG2 121 → 236 MG2 domain Domain
PF17791 MG3 213 → 304 Macroglobulin domain MG3 Domain
PF17789 MG4 342 → 439 Macroglobulin domain MG4 Domain
PF07703 A2M_BRD 453 → 601 Alpha-2-macroglobulin bait region domain Domain
PF00207 A2M 736 → 826 Alpha-2-macroglobulin family Family
PF07678 TED_complement 946 → 1251 A-macroglobulin TED domain Domain
PF07677 A2M_recep 1362 → 1449 A-macroglobulin receptor binding domain Domain
Tissue specificity TISSUE SPECIFICITY: In the epidermis, expressed predominantly in the granular layer at the apical edge of keratinocytes (at protein level). Also detected in placenta, testis and thymus but not in epithelia of kidney, lung, small intestine or colon. {ECO:0
Sequence 
MWAQLLLGMLALSPAIAEELPNYLVTLPARLNFPSVQKVCLDLSPGYSDVKFTVTLETKD
KTQKLLEYSGLKKRHLHCISFLVPPPAGGTEEVATIRVSGVGNNISFEEKKKVLIQRQGN
GTFVQTDKPLYTPGQQVYFRIVTMDSNFVPVNDKYSMVELQDPNSNRIAQWLEVVPEQGI
VDLSFQLAPEAMLGTYTVAVAEGKTFGTFSVEEYVLPKFKVEVVEPKELSTVQESFLVKI
CCRYTYGKPMLGAVQVSVCQKANTYWYREVEREQLPDKCRNLSGQTDKTGCFSAPVDMAT
FDLIGYAYSHQINIVATVVEEGTGVEANATQNIYISPQMGSMTFEDTSNFYHPNFPFSGK
IRVRGHDDSFLKNHLVFLVIYGTNGTFNQTLVTDNNGLAPFTLETSGWNGTDVSLEGKFQ
MEDLVYNPEQVPRYYQNAYLHLRPFYSTTRSFLGIHRLNGPLKCGQPQEVLVDYYIDPAD
ASPDQEISFSYYLIGKGSLVMEGQKHLNSKKKGLKASFSLSLTFTSRLAPDPSLVIYAIF
PSGGVVADKIQFSVEMCFDNQVSLGFSPSQQLPGAEVELQLQAAPGSLCALRAVDESVLL
LRPDRELSNRSVYGMFPFWYGHYPYQVAEYDQCPVSGPWDFPQPLIDPMPQGHSSQRSII
WRPSFSEGTDLFSFFRDVGLKILSNAKIKKPVDCSHRSPEYSTAMGAGGGHPEAFESSTP
LHQAEDSQVRQYFPETWLWDLFPIGNSGKEAVHVTVPDAITEWKAMSFCTSQSRGFGLSP
TVGLTAFKPFFVDLTLPYSVVRGESFRLTATIFNYLKDCIRVQTDLAKSHEYQLESWADS
QTSSCLCADDAKTHHWNITAVKLGHINFTISTKILDSNEPCGGQKGFVPQKGRSDTLIKP
VLVKPEGVLVEKTHSSLLCPKGKVASESVSLELPVDIVPDSTKAYVTVLGDIMGTALQNL
DGLVQMPSGCGEQNMVLFAPIIYVLQYLEKAGLLTEEIRSRAVGFLEIGYQKELMYKHSN
GSYSAFGERDGNGNTWLTAFVTKCFGQAQKFIFIDPKNIQDALKWMAGNQLPSGCYANVG
NLLHTAMKGGVDDEVSLTAYVTAALLEMGKDVDDPMVSQGLRCLKNSATSTTNLYTQALL
AYIFSLAGEMDIRNILLKQLDQQAIISGESIYWSQKPTPSSNASPWSEPAAVDVELTAYA
LLAQLTKPSLTQKEIAKATSIVAWLAKQHNAYGGFSSTQDTVVALQALAKYATTAYMPSE
EINLVVKSTENFQRTFNIQSVNRLVFQQDTLPNVPGMYTLEASGQGCVYVQTVLRYNILP
PTNMKTFSLSVEIGKARCEQPTSPRSLTLTIHTSYVGSRSSSNMAIVEVKMLSGFSPMEG
TNQLLLQQPLVKKVEFGTDTLNIYLDELIKNTQTYTFTISQSVLVTNLKPATIKVYDYYL
PDEQATIQYSDPCE
Sequence length 1454
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Noonan Syndrome noonan syndrome, noonan syndrome 1 N/A N/A ClinVar
Oligodendroglioma Oligodendroglioma N/A N/A GWAS
Show/Hide Text Mining Associations (16)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Borderline Personality Disorder Associate 25612291
Carcinoma Non Small Cell Lung Associate 39413460
Carcinoma Pancreatic Ductal Associate 39413460
Carcinoma Squamous Cell Associate 29749538, 39413460
Cardiofaciocutaneous syndrome Associate 24896146
Cognition Disorders Associate 29084334
Depressive Disorder Major Associate 25612291
Glioblastoma Associate 36766715
Glioma Associate 36766715
Hearing Loss Associate 36719978