This gene encodes member of the collagen family which is thought to contribute to the stabilization of myotendinous junctions and strengthen skeletal muscle attachments during contractile activity. It belongs to the fibril-associated collagens with interrupted triple helix (FACIT) subset of the collagen superfamily, which associate with collagen fibers through their C-terminal ... See more...

Aliases for COL22A1 Gene

Aliases for COL22A1 Gene

  • Collagen Type XXII Alpha 1 Chain 2 3 5
  • Collagen Alpha-1(XXII) Chain 3 4
  • Collagen, Type XXII, Alpha 1 2

External Ids for COL22A1 Gene

Previous GeneCards Identifiers for COL22A1 Gene

  • GC08P138863
  • GC08M139711
  • GC08M139284
  • GC08M139571
  • GC08M139669
  • GC08M134914
  • GC08M139600

Summaries for COL22A1 Gene

Entrez Gene Summary for COL22A1 Gene

  • This gene encodes member of the collagen family which is thought to contribute to the stabilization of myotendinous junctions and strengthen skeletal muscle attachments during contractile activity. It belongs to the fibril-associated collagens with interrupted triple helix (FACIT) subset of the collagen superfamily, which associate with collagen fibers through their C-terminal collagenous domains and mediate protein-protein interactions through their N-terminal noncollagenous domains. The encoded protein is deposited in the basement membrane zone of the myotendinous junction which is present only at the tissue junctions of muscles, tendons, the heart, articular cartilage, and skin. A knockdown of the orthologous zebrafish gene induces a muscular dystrophy by disruption of the myotendinous junction. [provided by RefSeq, May 2017]

GeneCards Summary for COL22A1 Gene

COL22A1 (Collagen Type XXII Alpha 1 Chain) is a Protein Coding gene. Diseases associated with COL22A1 include Pulmonary Systemic Sclerosis and Diffuse Cutaneous Systemic Sclerosis. Among its related pathways are ERK Signaling and Collagen chain trimerization. An important paralog of this gene is COL7A1.

UniProtKB/Swiss-Prot Summary for COL22A1 Gene

  • Acts as a cell adhesion ligand for skin epithelial cells and fibroblasts.

Additional gene information for COL22A1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for COL22A1 Gene

Genomics for COL22A1 Gene

GeneHancer (GH) Regulatory Elements for COL22A1 Gene

Promoters and enhancers for COL22A1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08J138913 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE CraniofacialAtlas 507.8 +0.2 170 1.4 CTCF MYC POLR2A HDAC2 SMC3 RAD21 PHF8 EZH2 MAZ ZBTB7A COL22A1 lnc-COL22A1-3 hsa-miR-5095-491
GH08J138952 Enhancer 0.8 Ensembl ENCODE 17.1 -38.9 -38929 1.6 RFX1 CTBP1 CTCF FOS NEUROD1 DPF2 NFIB GLIS1 CEBPB NFIA COL22A1 piR-57461-269 lnc-CHRAC1-9
GH08J138767 Enhancer 0.9 Ensembl ENCODE 11.7 +146.0 145994 0.6 CTCF MYC USF1 REST RAD21 TRIM22 TEAD1 SMC3 MXI1 CBFB COL22A1 piR-61945-493 lnc-FAM135B-4
GH08J138965 Enhancer 0.7 Ensembl ENCODE 10.8 -51.2 -51207 1 FOXA2 PKNOX1 NFIA NR2F6 FOS FOXA1 FOXA3 COL22A1 piR-57461-269 HSALNG0068952
GH08J138877 Enhancer 0.6 Ensembl ENCODE 11.1 +37.2 37193 1.4 NR2F2 NR2F1 ZFP36 RXRA hsa-miR-5095-491 COL22A1 lnc-FAM135B-5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around COL22A1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for COL22A1

Top Transcription factor binding sites by QIAGEN in the COL22A1 gene promoter:
  • GATA-2
  • GATA-3
  • HSF2
  • Lmo2
  • NF-kappaB
  • NF-kappaB1
  • NF-kappaB2
  • Pbx1a
  • SRF
  • SRF (504 AA)

Genomic Locations for COL22A1 Gene

Genomic Locations for COL22A1 Gene
chr8:138,588,235-138,914,094
(GRCh38/hg38)
Size:
325,860 bases
Orientation:
Minus strand
chr8:139,600,478-139,926,249
(GRCh37/hg19)
Size:
325,772 bases
Orientation:
Minus strand

Genomic View for COL22A1 Gene

Genes around COL22A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COL22A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COL22A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COL22A1 Gene

Proteins for COL22A1 Gene

  • Protein details for COL22A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NFW1-COMA1_HUMAN
    Recommended name:
    Collagen alpha-1(XXII) chain
    Protein Accession:
    Q8NFW1
    Secondary Accessions:
    • B7ZMH0
    • C9K0G4
    • Q8IVT9

    Protein attributes for COL22A1 Gene

    Size:
    1626 amino acids
    Molecular mass:
    161145 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for COL22A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for COL22A1 Gene

Post-translational modifications for COL22A1 Gene

  • Glycosylation at Asn375
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for COL22A1 Gene

Domains & Families for COL22A1 Gene

Gene Families for COL22A1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for COL22A1 Gene

Blocks:
  • Collagen triple helix repeat
  • Collagen helix repeat
  • Von Willebrand factor type A domain signature
  • Thrombospondin, N-terminal
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for COL22A1 Gene

GenScript: Design optimal peptide antigens:
  • Collagen alpha-1(XXII) chain (COMA1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8NFW1

UniProtKB/Swiss-Prot:

COMA1_HUMAN :
  • Belongs to the fibril-associated collagens with interrupted helices (FACIT) family.
Family:
  • Belongs to the fibril-associated collagens with interrupted helices (FACIT) family.
genes like me logo Genes that share domains with COL22A1: view

Function for COL22A1 Gene

Molecular function for COL22A1 Gene

UniProtKB/Swiss-Prot Function:
Acts as a cell adhesion ligand for skin epithelial cells and fibroblasts.

Phenotypes From GWAS Catalog for COL22A1 Gene

Gene Ontology (GO) - Molecular Function for COL22A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005201 extracellular matrix structural constituent IBA 21873635
genes like me logo Genes that share ontologies with COL22A1: view
genes like me logo Genes that share phenotypes with COL22A1: view

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for COL22A1 Gene

Localization for COL22A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COL22A1 Gene

Secreted, extracellular space, extracellular matrix. Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for COL22A1 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 4
plasma membrane 1
cytoskeleton 1
nucleus 1
cytosol 1
mitochondrion 0
peroxisome 0
lysosome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (3)
  • Endoplasmic reticulum (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for COL22A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005581 collagen trimer IEA --
GO:0005615 extracellular space IBA 21873635
GO:0005737 cytoplasm IEA --
GO:0005788 endoplasmic reticulum lumen TAS --
genes like me logo Genes that share ontologies with COL22A1: view

Pathways & Interactions for COL22A1 Gene

PathCards logo

SuperPathways for COL22A1 Gene

SuperPathway Contained pathways
1 Collagen chain trimerization
.48
.46
2 Integrin Pathway
.67
.67
.56
.56
.50
.38
3 ERK Signaling
.61
.61
.58
.51
.49
4 Phospholipase-C Pathway
.56
.56
5 Degradation of the extracellular matrix
genes like me logo Genes that share pathways with COL22A1: view

Pathways by source for COL22A1 Gene

15 Qiagen pathways for COL22A1 Gene
  • Blood Coagulation Cascade
  • ERK Signaling
  • FAK1 Signaling
  • GnRH Signaling
  • ILK Signaling

Gene Ontology (GO) - Biological Process for COL22A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030198 extracellular matrix organization IBA 21873635
genes like me logo Genes that share ontologies with COL22A1: view

No data available for SIGNOR curated interactions for COL22A1 Gene

Drugs & Compounds for COL22A1 Gene

(1) Drugs for COL22A1 Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Salbutamol Approved, Vet_approved Pharma Partial agonist, Agonist 0
genes like me logo Genes that share compounds with COL22A1: view

Transcripts for COL22A1 Gene

mRNA/cDNA for COL22A1 Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for COL22A1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^
SP1: -
SP2:

ExUns: 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39 ^ 40 ^ 41 ^ 42 ^ 43 ^ 44 ^ 45 ^ 46 ^ 47 ^ 48 ^ 49 ^ 50 ^ 51 ^ 52 ^
SP1:
SP2: - -

ExUns: 53 ^ 54 ^ 55 ^ 56 ^ 57 ^ 58 ^ 59 ^ 60 ^ 61 ^ 62 ^ 63 ^ 64 ^ 65 ^ 66
SP1:
SP2:

Relevant External Links for COL22A1 Gene

GeneLoc Exon Structure for
COL22A1

Expression for COL22A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for COL22A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for COL22A1 Gene

This gene is overexpressed in Pituitary (x37.2).

Protein differential expression in normal tissues from HIPED for COL22A1 Gene

This gene is overexpressed in Cervix (33.1), Stomach (16.4), and Heart (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for COL22A1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for COL22A1

SOURCE GeneReport for Unigene cluster for COL22A1 Gene:

Hs.117169

mRNA Expression by UniProt/SwissProt for COL22A1 Gene:

Q8NFW1-COMA1_HUMAN
Tissue specificity: Restrictive expression is observed at tissue junctions such as the myotendinous junction in skeletal and heart muscle, the articular cartilage-synovial fluid junction, or the border between the anagen hair follicle and the dermis in the skin. It is deposited in the basement membrane zone of the myotendinous junction and the hair follicle and associated with the extrafibrillar matrix in cartilage.

Evidence on tissue expression from TISSUES for COL22A1 Gene

  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with COL22A1: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for COL22A1 Gene

Orthologs for COL22A1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for COL22A1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia COL22A1 31 30
  • 98.99 (n)
OneToOne
cow
(Bos Taurus)
Mammalia COL22A1 31 30
  • 87.42 (n)
OneToOne
dog
(Canis familiaris)
Mammalia COL22A1 31 30
  • 86.38 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Col22a1 30
  • 85.35 (n)
mouse
(Mus musculus)
Mammalia Col22a1 17 31 30
  • 84.63 (n)
oppossum
(Monodelphis domestica)
Mammalia COL22A1 31
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia COL22A1 31
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves COL22A1 31 30
  • 70.27 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia COL22A1 31
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia col22a1 30
  • 64.75 (n)
zebrafish
(Danio rerio)
Actinopterygii prp 31 30
  • 60.31 (n)
OneToOne
Species where no ortholog for COL22A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for COL22A1 Gene

ENSEMBL:
Gene Tree for COL22A1 (if available)
TreeFam:
Gene Tree for COL22A1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for COL22A1: view image

Paralogs for COL22A1 Gene

(6) SIMAP similar genes for COL22A1 Gene using alignment to 3 proteins:

  • COMA1_HUMAN
  • H0YAX7_HUMAN
  • L8EAR4_HUMAN

Pseudogenes.org Pseudogenes for COL22A1 Gene

genes like me logo Genes that share paralogs with COL22A1: view

Variants for COL22A1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for COL22A1 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
722388 Likely Benign: not provided 138,649,778(-) C/T MISSENSE_VARIANT
722845 Benign: not provided 138,636,757(-) C/T SYNONYMOUS_VARIANT
776387 Benign: not provided 138,722,049(-) G/A MISSENSE_VARIANT
781782 Benign: not provided 138,724,654(-) C/A MISSENSE_VARIANT
rs6988229 Drug Response: salbutamol response - Efficacy 138,872,266(-) C/T INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for COL22A1 Gene

Structural Variations from Database of Genomic Variants (DGV) for COL22A1 Gene

Variant ID Type Subtype PubMed ID
dgv1422e214 CNV gain 21293372
dgv3913n106 CNV tandem duplication 24896259
dgv4252e59 CNV duplication 20981092
dgv4253e59 CNV duplication 20981092
esv2189069 CNV deletion 18987734
esv22132 CNV loss 19812545
esv2542263 CNV deletion 19546169
esv2662952 CNV deletion 23128226
esv2672597 CNV deletion 23128226
esv2737692 CNV deletion 23290073
esv2737693 CNV deletion 23290073
esv2737694 CNV deletion 23290073
esv2737697 CNV deletion 23290073
esv2737698 CNV deletion 23290073
esv2737699 CNV deletion 23290073
esv2737700 CNV deletion 23290073
esv2737701 CNV deletion 23290073
esv2737702 CNV deletion 23290073
esv274883 CNV loss 21479260
esv2761473 CNV loss 21179565
esv3330713 CNV duplication 20981092
esv3425720 CNV duplication 20981092
esv3433234 CNV duplication 20981092
esv3573015 CNV loss 25503493
esv3573016 CNV loss 25503493
esv3618988 CNV loss 21293372
esv3618989 CNV loss 21293372
esv3618990 CNV loss 21293372
esv3618991 CNV gain 21293372
esv3618992 CNV gain 21293372
esv3618995 CNV gain 21293372
esv3618996 CNV loss 21293372
esv3618997 CNV loss 21293372
esv7426 CNV loss 19470904
esv8995 CNV loss 19470904
nsv1027352 CNV loss 25217958
nsv1027877 CNV gain 25217958
nsv1033028 CNV loss 25217958
nsv1115142 CNV deletion 24896259
nsv1115143 CNV deletion 24896259
nsv1117497 CNV tandem duplication 24896259
nsv1125957 CNV tandem duplication 24896259
nsv1129814 CNV tandem duplication 24896259
nsv1132176 CNV deletion 24896259
nsv1132177 CNV deletion 24896259
nsv1141596 CNV duplication 24896259
nsv1146679 CNV deletion 26484159
nsv1151101 CNV duplication 26484159
nsv476282 CNV novel sequence insertion 20440878
nsv517244 CNV gain+loss 19592680
nsv519838 CNV loss 19592680
nsv520099 CNV loss 19592680
nsv521435 CNV gain 19592680
nsv526443 CNV loss 19592680
nsv612533 CNV gain 21841781
nsv612534 CNV gain 21841781
nsv824744 CNV loss 20364138

Variation tolerance for COL22A1 Gene

Residual Variation Intolerance Score: 94.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.64; 86.33% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for COL22A1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
COL22A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COL22A1 Gene

Disorders for COL22A1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for COL22A1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
pulmonary systemic sclerosis
  • lung disease with systemic sclerosis
diffuse cutaneous systemic sclerosis
  • diffuse scleroderma
muscular dystrophy
  • muscular dystrophies
basaloid lung carcinoma
  • basaloid lung cancer
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for COL22A1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with COL22A1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for COL22A1 Gene

Publications for COL22A1 Gene

  1. A novel marker of tissue junctions, collagen XXII. (PMID: 15016833) Koch M … Bruckner-Tuderman L (The Journal of biological chemistry 2004) 2 3 4 23 54
  2. A meta-analysis of genome-wide data from five European isolates reveals an association of COL22A1, SYT1, and GABRR2 with serum creatinine level. (PMID: 20222955) Pattaro C … EUROSPAN consortium (BMC medical genetics 2010) 3 23 41 54
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  4. A Human Skin Model Recapitulates Systemic Sclerosis Dermal Fibrosis and Identifies COL22A1 as a TGFβ Early Response Gene that Mediates Fibroblast to Myofibroblast Transition. (PMID: 30678304) Watanabe T … Feghali-Bostwick C (Genes 2019) 3 54
  5. Collagen COL22A1 maintains vascular stability and mutations in COL22A1 are potentially associated with intracranial aneurysms. (PMID: 30541770) Ton QV … Sumanas S (Disease models & mechanisms 2018) 3 54

Products for COL22A1 Gene

Sources for COL22A1 Gene