Mmp12 Gene Detail

Summary

• Symbol
  Mmp12
• Name
  matrix metallopeptidase 12
• Synonyms
  macrophage elastase, Mmel, MMP12

• Feature Type
  protein coding gene
• IDs
  MGI:97005
  NCBI Gene: 17381
• Alliance
  gene page
• Transcription Start Sites
  62 TSS

Location &
Maps

• Sequence Map
  Chr9:7344397-7360461 bp, + strand

  From NCBI annotation of GRCm39
  

• View this region in JBrowse
  

• Genome Browsers
  Ensembl | UCSC | NCBI

• Genetic Map
  Chromosome 9, 2.46 cM
• Mapping Data
  10 experiments

Strain
Comparison

• SNPs within 2kb
  51 from dbSNP Build 142
• Strain Annotations
  18
• RFLP
  1

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_97005	protein coding gene	Chr9:7344381-7369499 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0034320	protein coding gene	Chr9:4203272-4229802 (+)
A/J	MGP_AJ_G0034297	protein coding gene	Chr9:4286569-4311154 (+)
AKR/J	MGP_AKRJ_G0034227	protein coding gene	Chr9:4158044-4199326 (+)
BALB/cJ	MGP_BALBcJ_G0034291	protein coding gene	Chr9:4045380-4070410 (+)
C3H/HeJ	MGP_C3HHeJ_G0034003	protein coding gene	Chr9:4376048-4409597 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0034813	protein coding gene	Chr9:4361364-4392627 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0031751	protein coding gene	Chr9:3603147-3617623 (+)
CAST/EiJ	MGP_CASTEiJ_G0033330	protein coding gene	Chr9:4374520-4412218 (+)
CBA/J	MGP_CBAJ_G0033975	protein coding gene	Chr9:4463430-4490073 (+)
DBA/2J	MGP_DBA2J_G0034132	protein coding gene	Chr9:4174363-4220256 (+)
FVB/NJ	MGP_FVBNJ_G0034077	protein coding gene	Chr9:3966925-3991860 (+)
LP/J	MGP_LPJ_G0034219	protein coding gene	Chr9:4258797-4285514 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0034121	protein coding gene	Chr9:5179283-5205374 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0034832	protein coding gene	Chr9:4158915-4185560 (+)
PWK/PhJ	MGP_PWKPhJ_G0033034	protein coding gene	Chr9:4336025-4365906 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0032871	protein coding gene	Chr9:4432673-4463557 (+)
WSB/EiJ	MGP_WSBEiJ_G0033446	protein coding gene	Chr9:4171251-4200783 (+)

Homology

• Human Ortholog
  MMP12, matrix metallopeptidase 12

• Vertebrate Orthologs
  2

Vertebrate Orthology Source

Alliance of Genome Resources

• Human Ortholog
  MMP12, matrix metallopeptidase 12
  
• Synonyms
  HME, ME, MME, MMP-12
• Links
  HGNC:7158

  NCBI Gene ID: 4321

  neXtProt AC: NX_P39900

  UniProt: P39900

  
  
• Chr Location
  11q22.2; chr11:102862736-102874982 (-)  GRCh38

---

• MGI Vertebrate Homology
  Mmp12 stringent orthology
  1 human;1 mouse;1 rat
  
• HCOP
  vertebrate homology predictions: MMP12
• Protein SuperFamily
  Peptidase_M10A_matrix
• Gene Tree
  Mmp12
  

Human Diseases

• Diseases
  7 with human MMP12 associations

				Human Disease	Mouse Models
				abdominal aortic aneurysm IDs abdominal aortic aneurysm       DOID:7693 EFO:0004214 MESH:D017544 NCI:C27000 OMIM:100070 OMIM:609782 OMIM:611891 OMIM:614375 UMLS_CUI:C0162871
				arteriosclerosis IDs arteriosclerosis       DOID:2349 ICD10CM:I70 MESH:D001161 NCI:C34398 UMLS_CUI:C0003850
				Barrett's esophagus IDs Barrett's esophagus       DOID:9206 EFO:0000280 ICD10CM:K22.7 ICD9CM:530.85 MESH:D001471 NCI:C2891 OMIM:614266 UMLS_CUI:C0004763
				coronary aneurysm IDs coronary aneurysm       DOID:3362 ICD10CM:I25.41 ICD9CM_2006:414.11 ICD9CM:414.11 MESH:D003323 NCI:C168176 UMLS_CUI:C0010051
				coronary artery disease IDs coronary artery disease       DOID:3393 DOID:10506 DOID:3363 DOID:3394 DOID:9420 EFO:0001645 ICD10CM:I20-I25 ICD10CM:I25 ICD10CM:I25.10 ICD9CM:410-414.99 ICD9CM:414.0 ICD9CM:414.9 MESH:D003324 MESH:D003327 MESH:D017202 NCI:C35505 NCI:C50625 OMIM:300464 OMIM:607339 OMIM:608316 OMIM:608318 OMIM:608320 OMIM:610947 OMIM:611139 OMIM:612030 OMIM:614293 UMLS_CUI:C0010054 UMLS_CUI:C0010068 UMLS_CUI:C0151744 UMLS_CUI:C0264694
				esophagus adenocarcinoma IDs esophagus adenocarcinoma       DOID:4914 MESH:C562730 NCI:C4025 UMLS_CUI:C0279628
				multiple sclerosis IDs multiple sclerosis       DOID:2377 ICD10CM:G35 ICD9CM:340 MESH:D009103 NCI:C3243 OMIM:612594 OMIM:612595 OMIM:612596 UMLS_CUI:C0026769

Click on a disease name to see all genes associated with that disease.

• Mutations/Alleles
  1 with disease annotations

• References
  1 with disease annotations

Mutations,
Alleles, and
Phenotypes

• Phenotype Summary
  6 phenotypes from 1 allele in 2 genetic backgrounds
  8 phenotypes from multigenic genotypes
  76 phenotype references
  

• All Mutations and Alleles
  9
• Endonuclease-mediated
  4
• Targeted
  5
• Incidental Mutations
  Mutagenetix , APF
• Find Mice (IMSR)
  34 strains or lines available

Mice homozygous for a knock-out allele exhibit decreased sensitivity to cigarette smoke, decreased littler size, abnormal myelination, abnormal macrophage physiology, and decreased oligodedrocytes.

Gene Ontology
(GO)
Classifications

• All GO Annotations
  48
• GO References
  8

Expression

• Assay Results
  723
• Tissues
  7
• cDNA Data
  59
• Literature Summary
  16

Images

Tissue x Stage Matrix

• Other Mouse Links
  Allen Institute
  GEO
  Expression Atlas

Sequences &
Gene Models

• All Sequences
  95
• RefSeq
  8
• UniProt
  6
• CCDS
  CCDS22804.1, CCDS85639.1

• Ensembl
  ENSMUSG00000049723 (Evidence)
• NCBI Gene
  17381

Representative Sequences			Length	Strain/Species
genomic	17381	NCBI Gene Model | MGI Sequence Detail	16065	C57BL/6J
transcript	NM_001320076	RefSeq | MGI Sequence Detail	3665	ZRU/MplStud
polypeptide	P34960	UniProt | EBI | MGI Sequence Detail	473	Not Applicable

Protein
Information

• UniProt
  6 Sequences
• Protein Ontology
  PR:000010472 macrophage metalloelastase
  (term hierarchy)
• EC
  3.4.24.65
• InterPro Domains
  IPR018486 Hemopexin, conserved site
  IPR000585 Hemopexin-like domain
  IPR036375 Hemopexin-like domain superfamily
  IPR018487 Hemopexin-like repeats
  IPR024079 Metallopeptidase, catalytic domain superfamily
  IPR021190 Peptidase M10A
  IPR033739 Peptidase M10A, catalytic domain
  IPR021158 Peptidase M10A, cysteine switch, zinc binding site
  IPR001818 Peptidase M10, metallopeptidase
  IPR006026 Peptidase, metallopeptidase
  IPR002477 Peptidoglycan binding-like
  IPR036365 PGBD-like superfamily

Molecular
Reagents

• All nucleic 65

  Genomic 4

  cDNA 59

  Primer pair 2

  
  

  Microarray probesets 4

Other
Accession IDs

MGD-MRK-12275, MGI:2143275

References

• Summaries
  All 147

  Developmental Gene Expression 16

  Diseases 1

  Gene Ontology 8

  Phenotypes 76
• Earliest
  J:11522 Denis M, et al., Tumor necrosis factor plays an essential role in determining hypersensitivity pneumonitis in a mouse model. Am J Respir Cell Mol Biol. 1991 Nov;5(5):477-83
• Latest
  J:340401 Varadinkova S, et al., Expression dynamics of metalloproteinases during mandibular bone formation: association with Myb transcription factor. Front Cell Dev Biol. 2023;11:1168866

TSS for Mmp12:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr83681	Chr9:7344324-7344335 (+)	-67 bp
Tssr83682	Chr9:7344357-7344406 (+)	-15 bp
Tssr83683	Chr9:7346108-7346154 (+)	1,734 bp
Tssr83684	Chr9:7347404-7347410 (+)	3,010 bp
Tssr83685	Chr9:7347464-7347473 (+)	3,072 bp
Tssr83686	Chr9:7347497-7347522 (+)	3,113 bp
Tssr83687	Chr9:7347531-7347540 (+)	3,139 bp
Tssr83688	Chr9:7348203-7348237 (+)	3,823 bp
Tssr83689	Chr9:7348568-7348591 (+)	4,183 bp
Tssr83690	Chr9:7348604-7348618 (+)	4,214 bp
Tssr83691	Chr9:7348623-7348647 (+)	4,238 bp
Tssr83692	Chr9:7348654-7348670 (+)	4,265 bp
Tssr83693	Chr9:7348690-7348702 (+)	4,299 bp
Tssr83694	Chr9:7348716-7348731 (+)	4,327 bp
Tssr83695	Chr9:7348788-7348813 (+)	4,404 bp
Tssr83696	Chr9:7348843-7348876 (+)	4,463 bp
Tssr83697	Chr9:7348902-7348917 (+)	4,513 bp
Tssr83698	Chr9:7349057-7349094 (+)	4,679 bp
Tssr83699	Chr9:7349107-7349118 (+)	4,716 bp
Tssr83700	Chr9:7349155-7349179 (+)	4,770 bp
Tssr83701	Chr9:7349200-7349227 (+)	4,817 bp
Tssr83702	Chr9:7349237-7349249 (+)	4,846 bp
Tssr83703	Chr9:7349720-7349731 (+)	5,329 bp
Tssr83704	Chr9:7349752-7349765 (+)	5,362 bp
Tssr83705	Chr9:7350006-7350027 (+)	5,620 bp
Tssr83706	Chr9:7350030-7350054 (+)	5,645 bp
Tssr83707	Chr9:7350065-7350076 (+)	5,674 bp
Tssr83708	Chr9:7350086-7350094 (+)	5,693 bp
Tssr83709	Chr9:7350106-7350117 (+)	5,715 bp
Tssr83710	Chr9:7350616-7350634 (+)	6,228 bp
Tssr83711	Chr9:7351103-7351116 (+)	6,713 bp
Tssr83712	Chr9:7351973-7351985 (+)	7,582 bp
Tssr83713	Chr9:7352375-7352386 (+)	7,984 bp
Tssr83714	Chr9:7352547-7352570 (+)	8,162 bp
Tssr83715	Chr9:7352599-7352614 (+)	8,210 bp
Tssr83716	Chr9:7352870-7352907 (+)	8,492 bp
Tssr83717	Chr9:7352911-7352918 (+)	8,518 bp
Tssr83718	Chr9:7352931-7352952 (+)	8,545 bp
Tssr83719	Chr9:7352957-7352985 (+)	8,574 bp
Tssr83720	Chr9:7352986-7353018 (+)	8,605 bp
Tssr83721	Chr9:7353238-7353249 (+)	8,847 bp
Tssr83722	Chr9:7353440-7353530 (+)	9,088 bp
Tssr2759	Chr9:7353543-7353546 (+)	9,148 bp
Tssr83723	Chr9:7353564-7353577 (+)	9,174 bp
Tssr83724	Chr9:7353885-7353896 (+)	9,494 bp
Tssr83725	Chr9:7354009-7354033 (+)	9,624 bp
Tssr83726	Chr9:7354098-7354128 (+)	9,716 bp
Tssr83727	Chr9:7354710-7354798 (+)	10,357 bp
Tssr83728	Chr9:7354802-7354823 (+)	10,416 bp
Tssr83729	Chr9:7354824-7354832 (+)	10,431 bp
Tssr83730	Chr9:7355304-7355314 (+)	10,912 bp
Tssr83731	Chr9:7355318-7355358 (+)	10,941 bp
Tssr83732	Chr9:7355359-7355391 (+)	10,978 bp
Tssr83733	Chr9:7355396-7355439 (+)	11,021 bp
Tssr83734	Chr9:7355824-7355835 (+)	11,433 bp
Tssr83735	Chr9:7355846-7355857 (+)	11,455 bp
Tssr83736	Chr9:7357801-7357860 (+)	13,434 bp
Tssr83737	Chr9:7357864-7357884 (+)	13,477 bp
Tssr83738	Chr9:7358212-7358375 (+)	13,897 bp
Tssr83739	Chr9:7358378-7358409 (+)	13,997 bp
Tssr83740	Chr9:7358441-7358460 (+)	14,054 bp
Tssr83741	Chr9:7358515-7358526 (+)	14,124 bp