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Aliases for COL23A1 Gene

Aliases for COL23A1 Gene

  • Collagen Type XXIII Alpha 1 2 3
  • Collagen, Type XXIII, Alpha 1 2 5

External Ids for COL23A1 Gene

Previous GeneCards Identifiers for COL23A1 Gene

  • GC05M177733
  • GC05M177778
  • GC05M177597
  • GC05M177664
  • GC05M172390

Summaries for COL23A1 Gene

Entrez Gene Summary for COL23A1 Gene

  • COL23A1 is a member of the transmembrane collagens, a subfamily of the nonfibrillar collagens that contain a single pass hydrophobic transmembrane domain (Banyard et al., 2003 [PubMed 12644459]).[supplied by OMIM, Mar 2008]

GeneCards Summary for COL23A1 Gene

COL23A1 (Collagen Type XXIII Alpha 1) is a Protein Coding gene. Diseases associated with COL23A1 include Limited Scleroderma. Among its related pathways are ERK Signaling and Phospholipase-C Pathway. An important paralog of this gene is COL21A1.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COL23A1 Gene

Genomics for COL23A1 Gene

Regulatory Elements for COL23A1 Gene

Enhancers for COL23A1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around COL23A1 on UCSC Golden Path with GeneCards custom track

Promoters for COL23A1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around COL23A1 on UCSC Golden Path with GeneCards custom track

Genomic Location for COL23A1 Gene

178,237,616 bp from pter
178,590,555 bp from pter
352,940 bases
Minus strand

Genomic View for COL23A1 Gene

Genes around COL23A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COL23A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COL23A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COL23A1 Gene

Proteins for COL23A1 Gene

  • Protein details for COL23A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Collagen alpha-1(XXIII) chain
    Protein Accession:
    Secondary Accessions:
    • Q8IVR4
    • Q9NT93

    Protein attributes for COL23A1 Gene

    540 amino acids
    Molecular mass:
    51944 Da
    Quaternary structure:
    • Homotrimer.

    Alternative splice isoforms for COL23A1 Gene


neXtProt entry for COL23A1 Gene

Proteomics data for COL23A1 Gene at MOPED

Post-translational modifications for COL23A1 Gene

  • Undergoes proteolytic cleavage by furin protease to yield a 60 kDa soluble form that forms a homotrimer and exhibits a low affinity interaction with heparin.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for COL23A1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for COL23A1 (Collagen XXIII alpha 1)
  • Santa Cruz Biotechnology (SCBT) Antibodies for COL23A1

No data available for DME Specific Peptides for COL23A1 Gene

Domains & Families for COL23A1 Gene

Gene Families for COL23A1 Gene

Protein Domains for COL23A1 Gene

Suggested Antigen Peptide Sequences for COL23A1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Contains 5 collagen-like domains.
  • Contains 5 collagen-like domains.
genes like me logo Genes that share domains with COL23A1: view

Function for COL23A1 Gene

Phenotypes for COL23A1 Gene

genes like me logo Genes that share phenotypes with COL23A1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for COL23A1

CRISPR Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for COL23A1 Gene

Localization for COL23A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COL23A1 Gene

Cell membrane; Single-pass type II membrane protein; Extracellular side.

Subcellular locations from

Jensen Localization Image for COL23A1 Gene COMPARTMENTS Subcellular localization image for COL23A1 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 4
cytosol 1
extracellular 1
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for COL23A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0005886 plasma membrane TAS --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with COL23A1: view

Pathways & Interactions for COL23A1 Gene

genes like me logo Genes that share pathways with COL23A1: view

Gene Ontology (GO) - Biological Process for COL23A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0022617 extracellular matrix disassembly TAS --
genes like me logo Genes that share ontologies with COL23A1: view

No data available for SIGNOR curated interactions for COL23A1 Gene

Drugs & Compounds for COL23A1 Gene

No Compound Related Data Available

Transcripts for COL23A1 Gene

mRNA/cDNA for COL23A1 Gene

(10) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(2) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for COL23A1 Gene

Collagen, type XXIII, alpha 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for COL23A1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21
SP2: -
SP5: -

Relevant External Links for COL23A1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for COL23A1 Gene

mRNA expression in normal human tissues for COL23A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for COL23A1 Gene

This gene is overexpressed in Thyroid (x15.4) and Heart - Left Ventricle (x5.4).

Protein differential expression in normal tissues from HIPED for COL23A1 Gene

This gene is overexpressed in Adipocyte (28.4), Pancreatic juice (17.6), Peripheral blood mononuclear cells (15.0), and Heart (8.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for COL23A1 Gene

SOURCE GeneReport for Unigene cluster for COL23A1 Gene Hs.660026

genes like me logo Genes that share expression patterns with COL23A1: view

Protein tissue co-expression partners for COL23A1 Gene

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for COL23A1 Gene

Orthologs for COL23A1 Gene

This gene was present in the common ancestor of animals.

Orthologs for COL23A1 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia COL23A1 35
  • 87.04 (n)
  • 88.27 (a)
COL23A1 36
  • 88 (a)
(Canis familiaris)
Mammalia COL23A1 35
  • 88.21 (n)
  • 89.57 (a)
COL23A1 36
  • 76 (a)
(Mus musculus)
Mammalia Col23a1 35
  • 86.34 (n)
  • 92.75 (a)
Col23a1 16
Col23a1 36
  • 91 (a)
(Pan troglodytes)
Mammalia COL23A1 35
  • 95.19 (n)
  • 94.86 (a)
COL23A1 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Col23a1 35
  • 85.75 (n)
  • 92.55 (a)
(Monodelphis domestica)
Mammalia COL23A1 36
  • 82 (a)
(Ornithorhynchus anatinus)
Mammalia COL23A1 36
  • 84 (a)
(Gallus gallus)
Aves COL23A1 35
  • 68.82 (n)
  • 78.23 (a)
COL23A1 36
  • 72 (a)
(Anolis carolinensis)
Reptilia COL23A1 36
  • 51 (a)
(Danio rerio)
Actinopterygii LOC101886266 35
  • 61.51 (n)
  • 63.32 (a)
si:ch211-106n13.3 36
  • 11 (a)
si:dkey-117n7.4 36
  • 27 (a)
zgc:113232 36
  • 25 (a)
(Caenorhabditis elegans)
Secernentea col-135 36
  • 27 (a)
Species with no ortholog for COL23A1:
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for COL23A1 Gene

Gene Tree for COL23A1 (if available)
Gene Tree for COL23A1 (if available)

Paralogs for COL23A1 Gene

(3) SIMAP similar genes for COL23A1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with COL23A1: view

Variants for COL23A1 Gene

Sequence variations from dbSNP and Humsavar for COL23A1 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs890802 - 178,256,376(-) GAGGC(A/G)CGGAT reference, missense
rs708131 -- 178,531,912(-) GGTTC(A/G)GTGAC intron-variant
rs721142 -- 178,592,207(-) CCAGG(G/T)TTCCC upstream-variant-2KB
rs721143 -- 178,592,030(-) CAAGT(A/C)AGTCA upstream-variant-2KB
rs721144 -- 178,592,150(-) TGCTT(C/T)GGCCT upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for COL23A1 Gene

Variant ID Type Subtype PubMed ID
dgv6384n71 CNV Loss 21882294
dgv6385n71 CNV Loss 21882294
nsv527792 CNV Loss 19592680
nsv517167 CNV Loss 19592680
nsv883201 CNV Loss 21882294
esv5342 CNV Deletion 18987735
dgv220n6 CNV Loss 16902084
esv2731218 CNV Deletion 23290073
nsv462568 CNV Loss 19166990
dgv6386n71 CNV Loss 21882294
dgv6387n71 CNV Loss 21882294
esv989570 OTHER Inversion 20482838
esv2658022 CNV Deletion 23128226
nsv883209 CNV Loss 21882294
esv2731219 CNV Deletion 23290073
esv2246259 CNV Deletion 18987734
esv2731220 CNV Deletion 23290073
nsv327226 CNV Loss 16902084
esv2731221 CNV Deletion 23290073
esv1002980 CNV Deletion 20482838
nsv327363 CNV Loss 16902084
esv2731222 CNV Deletion 23290073
esv2731223 CNV Deletion 23290073
esv2333420 CNV Deletion 18987734
nsv328155 CNV Loss 16902084
esv2321766 CNV Deletion 18987734
esv2731224 CNV Deletion 23290073
esv1755731 CNV Deletion 17803354
nsv522162 CNV Loss 19592680
nsv883210 CNV Gain 21882294
nsv509106 CNV Insertion 20534489
esv2731225 CNV Deletion 23290073
esv2731226 CNV Deletion 23290073
esv3220 CNV Deletion 18987735
esv2605116 CNV Deletion 19546169
dgv6388n71 CNV Loss 21882294
nsv462569 CNV Loss 19166990
nsv513279 CNV Loss 21212237
nsv883213 CNV Gain 21882294
nsv436480 CNV Deletion 17901297
esv1008487 CNV Deletion 20482838
esv2636926 CNV Deletion 19546169
esv2731227 CNV Deletion 23290073
nsv513280 CNV Loss 21212237
esv22470 CNV Gain 19812545
dgv1012e201 CNV Deletion 23290073
dgv1013e201 CNV Deletion 23290073
esv2731234 CNV Deletion 23290073
esv2731240 CNV Deletion 23290073
dgv155e180 CNV Deletion 20482838
esv2731241 CNV Deletion 23290073
esv2731242 CNV Deletion 23290073
esv2731243 CNV Deletion 23290073
esv24398 CNV Loss 19812545
nsv526499 CNV Loss 19592680
nsv441978 CNV CNV 18776908
nsv462570 CNV Gain 19166990
dgv1061e199 CNV Deletion 23128226
esv2663093 CNV Deletion 23128226
esv2731244 CNV Deletion 23290073
esv4689 CNV Deletion 18987735
esv2731245 CNV Deletion 23290073
nsv883214 CNV Gain 21882294
nsv462571 CNV Loss 19166990
esv2731246 CNV Deletion 23290073
esv2731247 CNV Deletion 23290073
nsv471059 CNV Loss 18288195
esv2429795 CNV Deletion 19546169
esv2731248 CNV Deletion 23290073
esv2731249 CNV Deletion 23290073
dgv1014e201 CNV Deletion 23290073
dgv1015e201 CNV Deletion 23290073
esv4301 CNV Deletion 18987735
esv1948375 CNV Deletion 18987734
esv22927 CNV Gain+Loss 19812545
nsv820848 CNV Deletion 20802225
nsv327487 CNV Loss 16902084
nsv329434 CNV Loss 16902084
esv6640 CNV Loss 19470904
dgv1016e201 CNV Deletion 23290073
dgv1017e201 CNV Deletion 23290073
esv2731260 CNV Deletion 23290073
esv2731261 CNV Deletion 23290073
esv1763768 CNV Insertion 17803354
nsv883215 CNV Gain 21882294
nsv527857 CNV Loss 19592680
nsv509107 CNV Insertion 20534489
nsv5153 CNV Insertion 18451855
nsv883216 CNV Loss 21882294
esv988470 CNV Insertion 20482838
nsv280 CNV Insertion 15895083
esv1225849 CNV Insertion 17803354
esv2565934 CNV Insertion 19546169

Variation tolerance for COL23A1 Gene

Residual Variation Intolerance Score: 77.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.09; 80.45% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for COL23A1 Gene

Disorders for COL23A1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for COL23A1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
limited scleroderma
  • crest syndrome
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for COL23A1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with COL23A1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for COL23A1 Gene

Publications for COL23A1 Gene

  1. Type XXIII collagen, a new transmembrane collagen identified in metastatic tumor cells. (PMID: 12644459) Banyard J. … Zetter B.R. (J. Biol. Chem. 2003) 2 3 4 67
  2. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  3. Genetic variants associated with disordered eating. (PMID: 23568457) Wade T.D. … Martin N.G. (Int J Eat Disord 2013) 3
  4. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PMID: 23251661) Comuzzie A.G. … Butte N.F. (PLoS ONE 2012) 3
  5. Collagen XXIII, novel ligand for integrin alpha2beta1 in the epidermis. (PMID: 21652699) Veit G. … Koch M. (J. Biol. Chem. 2011) 3

Products for COL23A1 Gene

Sources for COL23A1 Gene