MATN4 (matrilin 4)

Gene

• Entrez ID: 8785
• Gene name: Matrilin 4
• Gene symbol: MATN4
• Synonyms (NCBI Gene): -
• Chromosome: 20
• Chromosome location: 20q13.12
• Summary: This gene encodes a member of von Willebrand factor A domain-containing protein family. The proteins of this family are thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This family member is

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs730882210	C>G	Likely-pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1133739	hsa-miR-3648	CLIP-seq
MIRT1133740	hsa-miR-3940-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	15075323, 32296183
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS	9827539
GO:0030198	Process	Extracellular matrix organization	NAS	11279097
GO:0031012	Component	Extracellular matrix	IBA
GO:0120216	Component	Matrilin complex	ISO

Other IDs

• MIM: 603897
• HGNC: 6910
• e!Ensembl: ENSG00000124159

Protein

• UniProt ID: O95460
• Protein name: Matrilin-4
• Protein function: Major component of the extracellular matrix of cartilage.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00092	VWA	34 → 208	von Willebrand factor type A domain	Domain
  PF12662	cEGF	237 → 258	Complement Clr-like EGF-like	Domain
  PF14670	FXa_inhibition	260 → 295		Domain
  PF00092	VWA	386 → 560	von Willebrand factor type A domain	Domain
  PF10393	Matrilin_ccoil	577 → 618	Trimeric coiled-coil oligomerisation domain of matrilin	Coiled-coil

• Tissue specificity: TISSUE SPECIFICITY: Embryonic kidney, lung and placenta.
• Sequence:

  MRGLLCWPVLLLLLQPWETQLQLTGPRCHTGPLDLVFVIDSSRSVRPFEFETMRQFLMGL
  LRGLNVGPNATRVGVIQYSSQVQSVFPLRAFSRREDMERAIRDLVPLAQGTMTGLAIQYA
  MNVAFSVAEGARPPEERVPRVAVIVTDGRPQDRVAEVAAQARARGIEIYAVGVQRADVGS
  LRAMASPPLDEHVFLVESFDLIQEFGLQFQSRLCGKDQCAEGGHGCQHQCVNAWAMFHCT
  CNPGYKLAADNKSCLAIDLCAEGTHGCEHHCVNSPGSYFCHCQVGFVLQQDQRSCRAIDY
  CSFGNHSCQHECVSTPGGPRCHCREGHDLQPDGRSCQVRDLCNGVDHGCEFQCVSEGLSY
  RCLCPEGRQLQADGKSCNRCREGHVDLVLLVDGSKSVRPQNFELVKRFVNQIVDFLDVSP
  EGTRVGLVQFSSRVRTEFPLGRYGTAAEVKQAVLAVEYMERGTMTGLALRHMVEHSFSEA
  QGARPRALNVPRVGLVFTDGRSQDDISVWAARAKEEGIVMYAVGVGKAVEAELREIASEP
  AELHVSYAPDFGTMTHLLENLRGSICPEEGISAGTELRSPCECESLVEFQGRTLGALESL
  TLNLAQLTARLEDLENQLANQK

• Sequence length: 622

Pathways

Reactome:

ECM proteoglycans

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
DIABETES INSIPIDUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLOBAL DEVELOPMENTAL DELAY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HOLOPROSENCEPHALY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Holoprosencephaly sequence	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MATN4-related disorder	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Breast Neoplasms	Breast neoplasm	Pubtator	36553681	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	31194719	Associate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	31194719		★☆☆☆☆ Found in Text Mining only
Corneal Dystrophies Hereditary	Corneal dystrophy	Pubtator	22876117	Associate	★☆☆☆☆ Found in Text Mining only
Corneal dystrophy	Corneal Dystrophy	BEFREE	22876117		★☆☆☆☆ Found in Text Mining only
Diabetes Insipidus	Diabetes Insipidus	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Neuropathies	Diabetic neuropathy	Pubtator	37033211	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Holoprosencephaly	Holoprosencephaly	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lattice corneal dystrophy Type I	Lattice corneal dystrophy	BEFREE	22876117		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	29610475		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	25575966	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	29610475		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stromal Dystrophies, Corneal	Stromal corneal dystrophy	BEFREE	22876117		★☆☆☆☆ Found in Text Mining only