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Aliases for COL23A1 Gene

Aliases for COL23A1 Gene

  • Collagen Type XXIII Alpha 1 Chain 2 3 5
  • Collagen, Type XXIII, Alpha 1 2 3
  • Procollagen, Type XXIII, Alpha 1 3
  • Collagen Alpha-1(XXIII) Chain 3

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 Chain) is a Protein Coding gene. Diseases associated with COL23A1 include Ichthyosis, Congenital, Autosomal Recessive 11. Among its related pathways are ERK Signaling and Collagen chain trimerization. An important paralog of this gene is COL25A1.

Additional gene information for COL23A1 Gene

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

Genomics for COL23A1 Gene

GeneHancer (GH) Regulatory Elements for COL23A1 Gene

Promoters and enhancers for COL23A1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J178590 Promoter/Enhancer 1.3 Ensembl ENCODE 650.7 -0.1 -140 1.4 CTCF MXI1 KLF1 ARNT BACH1 SIN3A KLF14 RAD21 ZNF335 CC2D1A COL23A1 CLK4 RN7SKP70
GH05J178624 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 11.6 -35.5 -35477 3.8 HDGF ARID4B SIN3A FEZF1 ZNF2 YY1 POLR2B ZNF766 ZNF213 E2F8 CLK4 ZNF354B ZNF354C LOC100129457 GMCL2 LOC100289470 LOC105377753 ENSG00000250674 LOC105377752 OR1X5P
GH05J178476 Enhancer 1.1 FANTOM5 Ensembl ENCODE 16.2 +112.9 112867 1.8 BCOR SRF NFIB MAFG ZMYM3 NFIC POLR2A KDM1A NFE2 EMSY LOC105377756 COL23A1 PIR32964
GH05J178483 Enhancer 1 FANTOM5 Ensembl ENCODE 16.2 +106.7 106701 1.1 L3MBTL2 MAX GABPA YY1 POLR2A MYC MGA EZH2 COL23A1 CLK4 PHYKPL LOC105377756 PIR48624
GH05J178630 Promoter/Enhancer 1.4 EPDnew ENCODE 11.3 -40.3 -40292 1.4 PKNOX1 FOXA2 ARID4B DMAP1 ZNF48 ETS1 FOS NFKBIZ MIER2 KAT8 CLK4 COL23A1 GRM6 VN2R2P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around COL23A1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the COL23A1 gene promoter:

Genomic Locations for COL23A1 Gene

Genomic Locations for COL23A1 Gene
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

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

Antibody Products

  • R&D Systems Antibodies for COL23A1 (Collagen XXIII alpha 1)
  • Boster Bio Antibodies for COL23A1
  • 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

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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

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

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

Function for COL23A1 Gene

Phenotypes From GWAS Catalog for COL23A1 Gene

Gene Ontology (GO) - Molecular Function for COL23A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with COL23A1: view
genes like me logo Genes that share phenotypes with COL23A1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for COL23A1

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COL23A1

No data available for Molecular function , Enzyme Numbers (IUBMB) , 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

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 COL23A1 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 4
extracellular 2
mitochondrion 1
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for COL23A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005581 collagen trimer IEA --
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with COL23A1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for COL23A1 Gene

Pathways & Interactions for COL23A1 Gene

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

Gene Ontology (GO) - Biological Process for COL23A1 Gene


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

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

Unigene Clusters for COL23A1 Gene

Collagen, type XXIII, alpha 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COL23A1

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 and MOPED for COL23A1 Gene

Protein tissue co-expression partners for COL23A1 Gene

NURSA nuclear receptor signaling pathways regulating expression of COL23A1 Gene:


SOURCE GeneReport for Unigene cluster for COL23A1 Gene:


Evidence on tissue expression from TISSUES for COL23A1 Gene

  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with COL23A1: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
(Pan troglodytes)
Mammalia COL23A1 34 33
  • 95.19 (n)
(Canis familiaris)
Mammalia COL23A1 34 33
  • 88.21 (n)
(Bos Taurus)
Mammalia COL23A1 34 33
  • 87.04 (n)
(Mus musculus)
Mammalia Col23a1 16 34 33
  • 86.34 (n)
(Rattus norvegicus)
Mammalia Col23a1 33
  • 85.75 (n)
(Ornithorhynchus anatinus)
Mammalia COL23A1 34
  • 84 (a)
(Monodelphis domestica)
Mammalia COL23A1 34
  • 82 (a)
(Gallus gallus)
Aves COL23A1 34 33
  • 68.82 (n)
(Anolis carolinensis)
Reptilia COL23A1 34
  • 51 (a)
(Danio rerio)
Actinopterygii LOC101886266 33
  • 61.51 (n)
si:dkey-117n7.4 34
  • 27 (a)
zgc:113232 34
  • 25 (a)
si:ch211-106n13.3 34
  • 11 (a)
(Caenorhabditis elegans)
Secernentea col-135 34
  • 27 (a)
Species where no ortholog for COL23A1 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for COL23A1 Gene

Gene Tree for COL23A1 (if available)
Gene Tree for COL23A1 (if available)
Evolutionary constrained regions (ECRs) for COL23A1: view image

Paralogs for COL23A1 Gene

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 Variation AA Info Type
rs1000006999 -- 178,366,215(-) C/T intron_variant
rs1000010297 -- 178,455,080(-) A/C intron_variant
rs1000022030 -- 178,561,888(-) G/A intron_variant
rs1000031708 -- 178,328,348(-) G/A/C intron_variant
rs1000041509 -- 178,355,224(-) T/C intron_variant

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

Variant ID Type Subtype PubMed ID
dgv10190n54 CNV loss 21841781
dgv10191n54 CNV loss 21841781
dgv10192n54 CNV loss 21841781
dgv10193n54 CNV loss 21841781
dgv10194n54 CNV loss 21841781
dgv1061e199 CNV deletion 23128226
dgv155e180 CNV deletion 20482838
dgv1680e212 CNV loss 25503493
dgv220n6 CNV deletion 16902084
dgv3235n106 CNV tandem duplication 24896259
dgv3236n106 CNV deletion 24896259
dgv3237n106 CNV deletion 24896259
dgv965e201 CNV deletion 23290073
dgv966e201 CNV deletion 23290073
dgv967e201 CNV deletion 23290073
dgv968e201 CNV deletion 23290073
dgv969e201 CNV deletion 23290073
dgv970e201 CNV deletion 23290073
esv1002980 CNV deletion 20482838
esv1008487 CNV deletion 20482838
esv1225849 CNV insertion 17803354
esv1755731 CNV deletion 17803354
esv1763768 CNV insertion 17803354
esv1948375 CNV deletion 18987734
esv2246259 CNV deletion 18987734
esv22470 CNV gain 19812545
esv22927 CNV gain+loss 19812545
esv2321766 CNV deletion 18987734
esv2333420 CNV deletion 18987734
esv2429795 CNV deletion 19546169
esv24398 CNV loss 19812545
esv2565934 CNV insertion 19546169
esv2605116 CNV deletion 19546169
esv2636926 CNV deletion 19546169
esv2658022 CNV deletion 23128226
esv2663093 CNV deletion 23128226
esv2731218 CNV deletion 23290073
esv2731219 CNV deletion 23290073
esv2731220 CNV deletion 23290073
esv2731221 CNV deletion 23290073
esv2731222 CNV deletion 23290073
esv2731223 CNV deletion 23290073
esv2731224 CNV deletion 23290073
esv2731225 CNV deletion 23290073
esv2731226 CNV deletion 23290073
esv2731227 CNV deletion 23290073
esv2731234 CNV deletion 23290073
esv2731240 CNV deletion 23290073
esv2731241 CNV deletion 23290073
esv2731242 CNV deletion 23290073
esv2731243 CNV deletion 23290073
esv2731244 CNV deletion 23290073
esv2731245 CNV deletion 23290073
esv2731246 CNV deletion 23290073
esv2731247 CNV deletion 23290073
esv2731248 CNV deletion 23290073
esv2731249 CNV deletion 23290073
esv2731260 CNV deletion 23290073
esv2731261 CNV deletion 23290073
esv2860680 CNV duplication 24192839
esv3220 CNV loss 18987735
esv3289384 CNV deletion 24192839
esv3289495 CNV deletion 24192839
esv3335979 CNV duplication 20981092
esv3348197 CNV duplication 20981092
esv3378133 CNV duplication 20981092
esv3409758 CNV insertion 20981092
esv3445094 CNV duplication 20981092
esv3567078 CNV deletion 23714750
esv3567083 CNV deletion 23714750
esv3607711 CNV loss 21293372
esv3607712 CNV loss 21293372
esv3607713 CNV loss 21293372
esv3607714 CNV gain 21293372
esv3607715 CNV loss 21293372
esv3607716 CNV loss 21293372
esv3607717 CNV loss 21293372
esv4301 CNV loss 18987735
esv4689 CNV loss 18987735
esv5342 CNV loss 18987735
esv6640 CNV loss 19470904
esv988470 CNV insertion 20482838
esv989570 OTHER inversion 20482838
nsv1019404 CNV gain 25217958
nsv1029822 CNV gain 25217958
nsv1073519 CNV deletion 25765185
nsv1073520 CNV deletion 25765185
nsv1074355 CNV deletion 25765185
nsv1074356 CNV deletion 25765185
nsv1078247 CNV insertion 25765185
nsv1111307 CNV tandem duplication 24896259
nsv1111308 CNV tandem duplication 24896259
nsv1111309 CNV tandem duplication 24896259
nsv1114763 CNV deletion 24896259
nsv1117427 CNV tandem duplication 24896259
nsv1120062 OTHER inversion 24896259
nsv1132944 CNV insertion 24896259
nsv1141818 CNV insertion 24896259
nsv1142006 OTHER inversion 24896259
nsv1144127 CNV deletion 24896259
nsv1144128 CNV deletion 24896259
nsv1148397 CNV deletion 26484159
nsv1149950 CNV deletion 26484159
nsv1153874 CNV deletion 26484159
nsv280 CNV insertion 15895083
nsv327226 CNV deletion 16902084
nsv327363 CNV deletion 16902084
nsv327487 CNV deletion 16902084
nsv328155 CNV deletion 16902084
nsv329434 CNV deletion 16902084
nsv436480 CNV deletion 17901297
nsv441978 CNV loss 18776908
nsv462568 CNV loss 19166990
nsv462569 CNV loss 19166990
nsv462570 CNV gain 19166990
nsv462571 CNV loss 19166990
nsv471059 CNV loss 18288195
nsv509106 CNV insertion 20534489
nsv509107 CNV insertion 20534489
nsv513279 CNV loss 21212237
nsv513280 CNV loss 21212237
nsv5153 CNV insertion 18451855
nsv517167 CNV loss 19592680
nsv522162 CNV loss 19592680
nsv526499 CNV loss 19592680
nsv527792 CNV loss 19592680
nsv527857 CNV loss 19592680
nsv600397 CNV loss 21841781
nsv600398 CNV loss 21841781
nsv600399 CNV loss 21841781
nsv600400 CNV loss 21841781
nsv600416 CNV loss 21841781
nsv600423 CNV gain 21841781
nsv600424 CNV loss 21841781
nsv600425 CNV loss 21841781
nsv600426 CNV loss 21841781
nsv600427 CNV loss 21841781
nsv820848 CNV deletion 20802225
nsv950732 CNV deletion 24416366
nsv950733 CNV deletion 24416366

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)

Additional Variant Information for COL23A1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COL23A1 Gene

Disorders for COL23A1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
ichthyosis, congenital, autosomal recessive 11
  • arci11
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for COL23A1

Genetic Association Database
Human Genome Epidemiology 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 BR (The Journal of biological chemistry 2003) 2 3 4 58
  2. 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 44 58
  3. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PMID: 19851296) Oguri M … Yamada Y (American journal of hypertension 2010) 3 44 58
  4. Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PMID: 20198315) Yoshida T … Yamada Y (International journal of molecular medicine 2010) 3 44 58
  5. Association of gene polymorphisms with chronic kidney disease in Japanese individuals. (PMID: 19724895) Yoshida T … Yamada Y (International journal of molecular medicine 2009) 3 44 58

Products for COL23A1 Gene

Sources for COL23A1 Gene

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