MATN4 matrilin 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MATN4provided by HGNC
Official Full Name: matrilin 4provided by HGNC
Primary source: HGNC:HGNC:6910
See related: Ensembl:ENSG00000124159 MIM:603897; AllianceGenome:HGNC:6910
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
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 thought to be play a role in reorganizing and regenerating the corneal matrix in granular and lattice type I dystrophies. It may also be involved in wound healing in the dentin-pulp complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
Expression: Biased expression in pancreas (RPKM 6.7), skin (RPKM 0.9) and 2 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20q13.12

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (45293450..45308684, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (47029312..47044561, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (43922090..43937169, complement)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Matrilin 4 (MATN4) was the only ECM biogenesis and organization related gene detected in odontoblasts but not in pulp by microarray and RT-PCR. MATN4 protein expression only in odontoblasts was confirmed by Western blot.
Title: Comparative gene expression profile analysis between native human odontoblasts and pulp tissue.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:495135

NoName (e-PCR)
- UniSTS:480620

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in extracellular matrix organization	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in collagen-containing extracellular matrix	IBA Inferred from Biological aspect of Ancestor more info
located_in collagen-containing extracellular matrix	ISO Inferred from Sequence Orthology more info
located_in extracellular region	TAS Traceable Author Statement more info
part_of matrilin complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: matrilin-4

NCBI Reference Sequences (RefSeq)

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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

NG_033953.1 RefSeqGene

Range

5231..20080

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001393530.1 → NP_001380459.1 matrilin-4 isoform 1 precursor

Status: REVIEWED

Source sequence(s)

AL021578

Consensus CDS

CCDS13348.1

UniProtKB/TrEMBL

A2RRP8, B3KQB2

Related

ENSP00000361842.1, ENST00000372756.6

Conserved Domains (3) summary

cd01475
Location:31 → 253

vWA_Matrilin; VWA_Matrilin: In cartilaginous plate, extracellular matrix molecules mediate cell-matrix and matrix-matrix interactions thereby providing tissue integrity. Some members of the matrilin family are expressed specifically in developing cartilage rudiments. ...

pfam14670
Location:260 → 295

FXa_inhibition; Coagulation Factor Xa inhibitory site

cl00057
Location:342 → 578

vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
NM_001393531.1 → NP_001380460.1 matrilin-4 isoform 4 precursor

Status: REVIEWED

Source sequence(s)

AL021578

UniProtKB/TrEMBL

A2RRP8, B3KQB2

Conserved Domains (3) summary

cd01475
Location:31 → 253

vWA_Matrilin; VWA_Matrilin: In cartilaginous plate, extracellular matrix molecules mediate cell-matrix and matrix-matrix interactions thereby providing tissue integrity. Some members of the matrilin family are expressed specifically in developing cartilage rudiments. ...

pfam14670
Location:260 → 295

FXa_inhibition; Coagulation Factor Xa inhibitory site

cl00057
Location:342 → 559

vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
NM_003833.5 → NP_003824.2 matrilin-4 isoform 1 precursor

See identical proteins and their annotated locations for NP_003824.2

Status: REVIEWED

Source sequence(s)

AL021578

Consensus CDS

CCDS13348.1

UniProtKB/TrEMBL

A2RRP8, B3KQB2

Related

ENSP00000440328.1, ENST00000537548.3

Conserved Domains (3) summary

cd01475
Location:31 → 253

vWA_Matrilin; VWA_Matrilin: In cartilaginous plate, extracellular matrix molecules mediate cell-matrix and matrix-matrix interactions thereby providing tissue integrity. Some members of the matrilin family are expressed specifically in developing cartilage rudiments. ...

pfam14670
Location:260 → 295

FXa_inhibition; Coagulation Factor Xa inhibitory site

cl00057
Location:342 → 578

vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
NM_030590.4 → NP_085080.1 matrilin-4 isoform 2 precursor

See identical proteins and their annotated locations for NP_085080.1

Status: REVIEWED

Source sequence(s)

AK074597, BC141811

Consensus CDS

CCDS46607.1

UniProtKB/TrEMBL

A5D8U1

Related

ENSP00000353819.5, ENST00000360607.10

Conserved Domains (2) summary

pfam14670
Location:260 → 295

FXa_inhibition; Coagulation Factor Xa inhibitory site

cl00057
Location:301 → 537

vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
NM_030592.4 → NP_085095.1 matrilin-4 isoform 3 precursor

See identical proteins and their annotated locations for NP_085095.1

Status: REVIEWED

Source sequence(s)

AL021578

UniProtKB/TrEMBL

A5D8U1, A6NNA4

Related

ENSP00000243983.5, ENST00000353917.10

Conserved Domains (1) summary

cl00057
Location:260 → 496

vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000020.11 Reference GRCh38.p14 Primary Assembly

Range

45293450..45308684 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047440576.1 → XP_047296532.1 matrilin-4 isoform X3
XM_017028113.2 → XP_016883602.1 matrilin-4 isoform X1

UniProtKB/TrEMBL

A2RRP8, B3KQB2

Conserved Domains (3) summary

cd01475
Location:31 → 253

vWA_Matrilin; VWA_Matrilin: In cartilaginous plate, extracellular matrix molecules mediate cell-matrix and matrix-matrix interactions thereby providing tissue integrity. Some members of the matrilin family are expressed specifically in developing cartilage rudiments. ...

pfam14670
Location:260 → 295

FXa_inhibition; Coagulation Factor Xa inhibitory site

cl00057
Location:342 → 559

vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
XM_017028115.2 → XP_016883604.1 matrilin-4 isoform X3

UniProtKB/TrEMBL

A5D8U1
XM_017028114.2 → XP_016883603.1 matrilin-4 isoform X2

UniProtKB/TrEMBL

A5D8U1