Gene Gene information from NCBI Gene database.
Entrez ID 8038
Gene name ADAM metallopeptidase domain 12
Gene symbol ADAM12
Synonyms (NCBI Gene)
ADAM12-OT1CAR10MCMPMCMPMltnaMLTNMLTNA
Chromosome 10
Chromosome location 10q26.2
Summary This gene encodes a member of a family of proteins that are structurally related to snake venom disintegrins and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle de
miRNA miRNA information provided by mirtarbase database.
240
miRTarBase ID miRNA Experiments Reference
MIRT005667 hsa-miR-29b-3p Luciferase reporter assayMicroarrayNorthern blotqRT-PCR 20971881
MIRT005667 hsa-miR-29b-3p Luciferase reporter assayMicroarrayNorthern blotqRT-PCR 20971881
MIRT005667 hsa-miR-29b-3p Luciferase reporter assayMicroarrayqRT-PCR 19956414
MIRT023733 hsa-miR-1-3p Microarray 18668037
MIRT441266 hsa-miR-218-5p HITS-CLIP 23212916
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
SKIL Repression 20457602
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
GO ID Ontology Definition Evidence Reference
GO:0004222 Function Metalloendopeptidase activity IBA
GO:0004222 Function Metalloendopeptidase activity IEA
GO:0005515 Function Protein binding IPI 15574124, 25825872, 32296183
GO:0005576 Component Extracellular region IEA
GO:0005654 Component Nucleoplasm IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602714 190 ENSG00000148848
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O43184
Protein name Disintegrin and metalloproteinase domain-containing protein 12 (ADAM 12) (EC 3.4.24.-) (Meltrin-alpha)
Protein function Involved in skeletal muscle regeneration, specifically at the onset of cell fusion. Also involved in macrophage-derived giant cells (MGC) and osteoclast formation from mononuclear precursors (By similarity).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01562 Pep_M12B_propep 42 167 Reprolysin family propeptide Family
PF01421 Reprolysin 214 416 Reprolysin (M12B) family zinc metalloprotease Domain
PF00200 Disintegrin 433 505 Disintegrin Domain
PF08516 ADAM_CR 510 630 ADAM cysteine-rich Family
Tissue specificity TISSUE SPECIFICITY: Isoform 1 is expressed in placenta and skeletal, cardiac, and smooth muscle. Isoform 2 seems to be expressed only in placenta or in embryo and fetus. Both forms were expressed in some tumor cells lines. Not detected in brain, lung, liv
Sequence
MAARPLPVSPARALLLALAGALLAPCEARGVSLWNQGRADEVVSASVGSGDLWIPVKSFD
SKNHPEVLNIRLQRESKELIINLERNEGLIASSFTETHYLQDGTDVSLARNYTVILGHCY
YHGHVRGYSDSAVSLSTCSGLRGLIVFENESYVLEPMKSATNRYKLF
PAKKLKSVRGSCG
SHHNTPNLAAKNVFPPPSQTWARRHKRETLKATKYVELVIVADNREFQRQGKDLEKVKQR
LIEIANHVDKFYRPLNIRIVLVGVEVWNDMDKCSVSQDPFTSLHEFLDWRKMKLLPRKSH
DNAQLVSGVYFQGTTIGMAPIMSMCTADQSGGIVMDHSDNPLGAAVTLAHELGHNFGMNH
DTLDRGCSCQMAVEKGGCIMNASTGYPFPMVFSSCSRKDLETSLEKGMGVCLFNLP
EVRE
SFGGQKCGNRFVEEGEECDCGEPEECMNRCCNATTCTLKPDAVCAHGLCCEDCQLKPAGT
ACRDSSNSCDLPEFCTGASPHCPAN
VYLHDGHSCQDVDGYCYNGICQTHEQQCVTLWGPG
AKPAPGICFERVNSAGDPYGNCGKVSKSSFAKCEMRDAKCGKIQCQGGASRPVIGTNAVS
IETNIPLQQGGRILCRGTHVYLGDDMPDPG
LVLAGTKCADGKICLNRQCQNISVFGVHEC
AMQCHGRGVCNNRKNCHCEAHWAPPFCDKFGFGGSTDSGPIRQADNQGLTIGILVTILCL
LAAGFVVYLKRKTLIRLLFTNKKTTIEKLRCVRPSRPPRGFQPCQAHLGHLGKGLMRKPP
DSYPPKDNPRRLLQCQNVDISRPLNGLNVPQPQSTQRVLPPLHRAPRAPSVPARPLPAKP
ALRQAQGTCKPNPPQKPLPADPLARTTRLTHALARTPGQWETGLRLAPLRPAPQYPHQVP
RSTHTAYIK
Sequence length 909
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Invadopodia formation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
10
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BIPOLAR DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 22984426
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 30617305
★☆☆☆☆
Found in Text Mining only
Allergic rhinitis (disorder) Allergic rhinitis BEFREE 19213876
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease, Late Onset Alzheimer disease BEFREE 17440933
★☆☆☆☆
Found in Text Mining only
Anaplastic astrocytoma Anaplastic Astrocytoma BEFREE 23324579
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 30442938
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 23101757
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis Pubtator 21173277 Associate
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 17088949 Stimulate
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 26553447
★☆☆☆☆
Found in Text Mining only