MMP23B (matrix metallopeptidase 23B)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 8510
Gene name Matrix metallopeptidase 23B
Gene symbol MMP23B
Synonyms (NCBI Gene)
MIFRMIFR-1MMP22MMP23A
Chromosome 1
Chromosome location 1p36.33
Summary This gene (MMP23B) encodes a member of the matrix metalloproteinase (MMP) family, and it is part of a duplicated region of chromosome 1p36.3. Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in no
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (21)
GO ID Ontology Definition Evidence Reference
GO:0004222 Function Metalloendopeptidase activity IBA
GO:0004222 Function Metalloendopeptidase activity IDA 9988691
GO:0004222 Function Metalloendopeptidase activity IEA
GO:0004222 Function Metalloendopeptidase activity NAS 9740677
GO:0005615 Component Extracellular space IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
603321 7171 ENSG00000189409
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O75900
Protein name Matrix metalloproteinase-23 (MMP-23) (EC 3.4.24.-) (Femalysin) (MIFR-1) (Matrix metalloproteinase-21) (MMP-21) (Matrix metalloproteinase-22) (MMP-22) [Cleaved into: Matrix metalloproteinase-23, soluble form]
Protein function Protease. May regulate the surface expression of some potassium channels by retaining them in the endoplasmic reticulum (By similarity).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00413 Peptidase_M10 87 → 254 Matrixin Domain
PF01549 ShK 254 → 289 ShK domain-like Domain
Tissue specificity TISSUE SPECIFICITY: Predominantly expressed in ovary, testis and prostate. {ECO:0000269|PubMed:9988691}.
Sequence 
MGRGARVPSEAPGAGVERRWLGAALVALCLLPALVLLARLGAPAVPAWSAAQGDVAALGL
SAVPPTRVPGPLAPRRRRYTLTPARLRWDHFNLTYRILSFPRNLLSPRETRRALAAAFRM
WSDVSPFSFREVAPEQPSDLRIGFYPINHTDCLVSALHHCFDGPTGELAHAFFPPHGGIH
FDDSEYWVLGPTRYSWKKGVWLTDLVHVAAHEIGHALGLMHSQHGRALMHLNATLRGWKA
LSQDELWGLHRLYGCLDRLFVCASWARRGFCDARRRLMKRLCPSSCDFCYEFPFPTVATT
PPPPRTKTRLVPEGRNVTFRCGQKILHKKGKVYWYKDQEPLEFSYPGYLALGEAHLSIIA
NAVNEGTYTCVVRRQQRVLTTYSWRVRVRG
Sequence length 390
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Gene Gene ontology Other IDs Protein Associated diseases
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)
Show/Hide Unknown Diseases (2)
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
1P36 DELETION SYNDROME — Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHROMOSOME 1P36 DELETION SYNDROME — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (28)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Bladder Neoplasm Bladder Neoplasm BEFREE 30052775
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 15015597
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 19531263 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 12490321
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma of bladder Bladder carcinoma BEFREE 30052775
★★★★★
★☆☆☆☆
Found in Text Mining only
Colitis Ulcerative Ulcerative colitis Pubtator 32853407 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 21656525
★★★★★
★☆☆☆☆
Found in Text Mining only
Coronary Arteriosclerosis Coronary Arteriosclerosis BEFREE 28786243
★★★★★
★☆☆☆☆
Found in Text Mining only
Coronary Artery Disease Coronary artery disease BEFREE 28786243
★★★★★
★☆☆☆☆
Found in Text Mining only
Coronary heart disease Coronary Heart Disease BEFREE 28786243
★★★★★
★☆☆☆☆
Found in Text Mining only