Tissue expression of MATN3 - Summary - The Human Protein Atlas

GENERAL INFORMATION
Gene name	MATN3
Gene description	Matrilin 3
Protein class	Disease related genes Predicted secreted proteins
Predicted localization	Secreted
Number of transcripts	2
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:	Tissue enhanced (lung, placenta)
GTEx:	Mixed
FANTOM5:	Tissue enhanced (lung)

Protein evidence

Evidence at protein level

DATA RELIABILITY
Reliability score	Pending normal tissue annotation.

RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM)

Protein expression (score)

Brain

N/A

Cerebral cortex

N/A

Hippocampus

N/A

Caudate

N/A

Cerebellum

N/A

Endocrine tissues

N/A

Thyroid gland

N/A

Parathyroid gland

N/A

Adrenal gland

N/A

Bone marrow & immune system

N/A

Appendix

N/A

Bone marrow

N/A

Lymph node

N/A

Tonsil

N/A

Spleen

N/A

Muscle tissues

N/A

Heart muscle

N/A

Skeletal muscle

N/A

Smooth muscle

N/A

Lung

N/A

Nasopharynx

N/A

Bronchus

N/A

Lung

N/A

Liver & gallbladder

N/A

Liver

N/A

Gallbladder

N/A

Pancreas

N/A

Pancreas

N/A

Gastrointestinal tract

N/A

Oral mucosa

N/A

Salivary gland

N/A

Esophagus

N/A

Stomach

N/A

Duodenum

N/A

Small intestine

N/A

Colon

N/A

Rectum

N/A

Kidney & urinary bladder

N/A

Kidney

N/A

Urinary bladder

N/A

Male tissues

N/A

Testis

N/A

Epididymis

N/A

Prostate

N/A

Seminal vesicle

N/A

Female tissues

N/A

Breast

N/A

Vagina

N/A

Cervix, uterine

N/A

Endometrium

N/A

Fallopian tube

N/A

Ovary

N/A

Placenta

N/A

Adipose & soft tissue

N/A

Adipose tissue

N/A

Soft tissue

N/A

Skin

N/A

Skin

N/A

PROTEIN EXPRESSION OVERVIEW
Pending normal tissue annotation.

RNA EXPRESSION OVERVIEW
HPA dataset Organ Expression Alphabetical RNA tissue category: Tissue enhanced (lung, placenta)
GTEx dataset Organ Expression Alphabetical RNA tissue category: Mixed
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Tissue enhanced (lung)

GENE INFORMATION
Gene name	MATN3 (HGNC Symbol)
Synonyms	EDM5, HOA
Description	Matrilin 3 (HGNC Symbol)
Entrez gene summary	This gene encodes a member of von Willebrand factor A domain containing protein family. This family of proteins is thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This protein contains two von Willebrand factor A domains; it is present in the cartilage extracellular matrix and has a role in the development and homeostasis of cartilage and bone. Mutations in this gene result in multiple epiphyseal dysplasia. [provided by RefSeq, Jul 2008]
Chromosome	2
Cytoband	p24.1
Chromosome location (bp)	19992111 - 20012694
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000132031 (version 83.38)
Entrez gene	4148
UniProt	O15232 (UniProt - Evidence at protein level)
neXtProt	NX_O15232
Antibodypedia	MATN3 antibodies

PROTEIN BROWSER

MATN3-001	MATN3-201

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
MATN3-001 ENSP00000383894 ENST00000407540	O15232 [Direct mapping] Matrilin-3 Show all	THUMBUP predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0001501 [skeletal system development] GO:0005201 [extracellular matrix structural constituent] GO:0005509 [calcium ion binding] GO:0005515 [protein binding] GO:0005576 [extracellular region] GO:0005578 [proteinaceous extracellular matrix] GO:0030198 [extracellular matrix organization] Show all	486 aa 52.8 kDa	Yes	0
MATN3-201 ENSP00000398753 ENST00000421259	O15232 [Direct mapping] Matrilin-3 Show all	THUMBUP predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Disease related genes Protein evidence (Ezkurdia et al 2014) Show all	GO:0001501 [skeletal system development] GO:0005201 [extracellular matrix structural constituent] GO:0005509 [calcium ion binding] GO:0005515 [protein binding] GO:0005576 [extracellular region] GO:0030198 [extracellular matrix organization] Show all	444 aa 48.3 kDa	Yes	0