Format

Send to:

Choose Destination

ADAM12 ADAM metallopeptidase domain 12 [ Homo sapiens (human) ]

Gene ID: 8038, updated on 7-Jun-2020

Summary

Official Symbol
ADAM12provided by HGNC
Official Full Name
ADAM metallopeptidase domain 12provided by HGNC
Primary source
HGNC:HGNC:190
See related
Ensembl:ENSG00000148848 MIM:602714
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MCMP; MLTN; CAR10; MLTNA; MCMPMltna; ADAM12-OT1
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 development, and neurogenesis. Expression of this gene has been used as a maternal serum marker for pre-natal development. Alternative splicing results in multiple transcript variants encoding different isoforms. Shorter isoforms are secreted, while longer isoforms are membrane-bound form. [provided by RefSeq, Jan 2014]
Expression
Biased expression in placenta (RPKM 63.0), gall bladder (RPKM 5.5) and 2 other tissues See more
Orthologs

Genomic context

See ADAM12 in Genome Data Viewer
Location:
10q26.2
Exon count:
27
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (126012391..126388477, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (127700960..128077127, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene fibronectin type III and ankyrin repeat domains 1 Neighboring gene FANK1 antisense RNA 1 Neighboring gene G protein subunit gamma 10 pseudogene 1 Neighboring gene RNA, 5S ribosomal pseudogene 328 Neighboring gene secretion associated Ras related GTPase 1A pseudogene 2 Neighboring gene uncharacterized LOC112267914 Neighboring gene long intergenic non-protein coding RNA 601 Neighboring gene uncharacterized LOC728158 Neighboring gene chromosome 10 open reading frame 90

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
NHGRI GWA Catalog
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
NHGRI GWA Catalog
Genome-wide association study of endometrial cancer in E2C2.
NHGRI GWA Catalog
Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ31066

Gene Ontology Provided by GOA

Function Evidence Code Pubs
SH3 domain binding IPI
Inferred from Physical Interaction
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
metalloendopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
metallopeptidase activity TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cell adhesion IEA
Inferred from Electronic Annotation
more info
 
extracellular matrix organization TAS
Traceable Author Statement
more info
 
myoblast fusion TAS
Traceable Author Statement
more info
PubMed 
positive regulation of angiogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
proteolysis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
extracellular region IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
disintegrin and metalloproteinase domain-containing protein 12
Names
meltrin-alpha
metalloprotease-disintegrin 12 transmembrane

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_029050.1 RefSeqGene

    Range
    5082..381168
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001288973.2NP_001275902.1  disintegrin and metalloproteinase domain-containing protein 12 isoform 3 preproprotein

    See identical proteins and their annotated locations for NP_001275902.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. The encoded isoform (3, also known as ADAM12-La) is shorter than isoform 1.
    Source sequence(s)
    AC063963, AK055628, KF444157
    UniProtKB/TrEMBL
    U5NE98
    Conserved Domains (5) summary
    smart00050
    Location:436504
    DISIN; Homologues of snake disintegrins
    smart00608
    Location:507649
    ACR; ADAM Cysteine-Rich Domain
    cd04269
    Location:211411
    ZnMc_adamalysin_II_like; Zinc-dependent metalloprotease; adamalysin_II_like subfamily. Adamalysin II is a snake venom zinc endopeptidase. This subfamily contains other snake venom metalloproteinases, as well as membrane-anchored metalloproteases belonging to the ADAM family. ...
    pfam01421
    Location:211413
    Reprolysin; Reprolysin (M12B) family zinc metalloprotease
    pfam01562
    Location:60158
    Pep_M12B_propep; Reprolysin family propeptide
  2. NM_001288974.2NP_001275903.1  disintegrin and metalloproteinase domain-containing protein 12 isoform 4 preproprotein

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate in-frame splice site in the 5' coding region, lacks multiple 3' coding exons, and contains an alternate 3' terminal exon, resulting in a different 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (4) has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    AY358878, BC060804, CB960379, T91975
    UniProtKB/Swiss-Prot
    O43184
    Conserved Domains (5) summary
    smart00050
    Location:436504
    DISIN; Homologues of snake disintegrins
    smart00608
    Location:507649
    ACR; ADAM Cysteine-Rich Domain
    cd04269
    Location:211411
    ZnMc_adamalysin_II_like; Zinc-dependent metalloprotease; adamalysin_II_like subfamily. Adamalysin II is a snake venom zinc endopeptidase. This subfamily contains other snake venom metalloproteinases, as well as membrane-anchored metalloproteases belonging to the ADAM family. ...
    pfam01421
    Location:211413
    Reprolysin; Reprolysin (M12B) family zinc metalloprotease
    pfam01562
    Location:60158
    Pep_M12B_propep; Reprolysin family propeptide
  3. NM_001288975.2NP_001275904.1  disintegrin and metalloproteinase domain-containing protein 12 isoform 5 preproprotein

    See identical proteins and their annotated locations for NP_001275904.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) uses an alternate in-frame splice site in the 5' coding region, lacks multiple 3' coding exons, and contains an alternate 3' terminal exon, resulting in a different 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (5) has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    AK291629, AY358878, BC060804, CB960379, DA863951, T91975
    UniProtKB/Swiss-Prot
    O43184
    UniProtKB/TrEMBL
    A8K6G4
    Conserved Domains (5) summary
    smart00050
    Location:436504
    DISIN; Homologues of snake disintegrins
    smart00608
    Location:507649
    ACR; ADAM Cysteine-Rich Domain
    cd04269
    Location:211411
    ZnMc_adamalysin_II_like; Zinc-dependent metalloprotease; adamalysin_II_like subfamily. Adamalysin II is a snake venom zinc endopeptidase. This subfamily contains other snake venom metalloproteinases, as well as membrane-anchored metalloproteases belonging to the ADAM family. ...
    pfam01421
    Location:211413
    Reprolysin; Reprolysin (M12B) family zinc metalloprotease
    pfam01562
    Location:60158
    Pep_M12B_propep; Reprolysin family propeptide
  4. NM_003474.6NP_003465.3  disintegrin and metalloproteinase domain-containing protein 12 isoform 1 preproprotein

    See identical proteins and their annotated locations for NP_003465.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1, also known as ADAM12-Lb).
    Source sequence(s)
    AC063963, AF023476, AK055628, BC060804, DA027173, DR004947
    Consensus CDS
    CCDS7653.1
    UniProtKB/Swiss-Prot
    O43184
    Related
    ENSP00000357668.4, ENST00000368679.8
    Conserved Domains (5) summary
    smart00050
    Location:439507
    DISIN; Homologues of snake disintegrins
    smart00608
    Location:510652
    ACR; ADAM Cysteine-Rich Domain
    cd04269
    Location:214414
    ZnMc_adamalysin_II_like; Zinc-dependent metalloprotease; adamalysin_II_like subfamily. Adamalysin II is a snake venom zinc endopeptidase. This subfamily contains other snake venom metalloproteinases, as well as membrane-anchored metalloproteases belonging to the ADAM family. ...
    pfam01421
    Location:214416
    Reprolysin; Reprolysin (M12B) family zinc metalloprotease
    pfam01562
    Location:60161
    Pep_M12B_propep; Reprolysin family propeptide
  5. NM_021641.5NP_067673.2  disintegrin and metalloproteinase domain-containing protein 12 isoform 2 preproprotein

    See identical proteins and their annotated locations for NP_067673.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks multiple 3' coding exons and contains an alternate 3' terminal exon, resulting in a different 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2, also known as ADAM12-S) has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    AF023476, AK291629, AY358878, BC060804, DR004947, T91975
    Consensus CDS
    CCDS7654.1
    UniProtKB/Swiss-Prot
    O43184
    UniProtKB/TrEMBL
    A8K6G4
    Related
    ENSP00000357665.4, ENST00000368676.8
    Conserved Domains (5) summary
    smart00050
    Location:439507
    DISIN; Homologues of snake disintegrins
    smart00608
    Location:510652
    ACR; ADAM Cysteine-Rich Domain
    cd04269
    Location:214414
    ZnMc_adamalysin_II_like; Zinc-dependent metalloprotease; adamalysin_II_like subfamily. Adamalysin II is a snake venom zinc endopeptidase. This subfamily contains other snake venom metalloproteinases, as well as membrane-anchored metalloproteases belonging to the ADAM family. ...
    pfam01421
    Location:214416
    Reprolysin; Reprolysin (M12B) family zinc metalloprotease
    pfam01562
    Location:60161
    Pep_M12B_propep; Reprolysin family propeptide

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    126012391..126388477 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017016705.1XP_016872194.1  disintegrin and metalloproteinase domain-containing protein 12 isoform X1

  2. XM_017016706.1XP_016872195.1  disintegrin and metalloproteinase domain-containing protein 12 isoform X2

  3. XM_024448210.1XP_024303978.1  disintegrin and metalloproteinase domain-containing protein 12 isoform X3

    Conserved Domains (3) summary
    smart00050
    Location:261
    DISIN; Homologues of snake disintegrins
    smart00608
    Location:64206
    ACR; ADAM Cysteine-Rich Domain
    cl26464
    Location:308459
    Atrophin-1; Atrophin-1 family
Support Center