This gene is a member of the collagen gene family and is thought to regulate type I collagen fibrillogenesis during fetal development. [provided by RefSeq, Mar 2017] See more...

Aliases for COL24A1 Gene

Aliases for COL24A1 Gene

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

External Ids for COL24A1 Gene

Previous GeneCards Identifiers for COL24A1 Gene

  • GC01M086610
  • GC01M085351
  • GC01M085487
  • GC01M085617
  • GC01M085906
  • GC01M086194
  • GC01M084305

Summaries for COL24A1 Gene

Entrez Gene Summary for COL24A1 Gene

  • This gene is a member of the collagen gene family and is thought to regulate type I collagen fibrillogenesis during fetal development. [provided by RefSeq, Mar 2017]

GeneCards Summary for COL24A1 Gene

COL24A1 (Collagen Type XXIV Alpha 1 Chain) is a Protein Coding gene. Diseases associated with COL24A1 include Anthracosilicosis and Osteochondrosis. Among its related pathways are ERK Signaling and Collagen chain trimerization. Gene Ontology (GO) annotations related to this gene include extracellular matrix structural constituent. An important paralog of this gene is COL5A1.

UniProtKB/Swiss-Prot Summary for COL24A1 Gene

  • May participate in regulating type I collagen fibrillogenesis at specific anatomical locations during fetal development.

Additional gene information for COL24A1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for COL24A1 Gene

Genomics for COL24A1 Gene

GeneHancer (GH) Regulatory Elements for COL24A1 Gene

Promoters and enhancers for COL24A1 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
GH01J086154 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 508.2 +0.9 871 2.9 USF1 ZIC2 ZBTB10 ZNF423 ZBTB26 TRIM28 ATF2 ZNF341 POLR2A OSR2 COL24A1 lnc-ODF2L-3 ZNHIT6 BCL10 C1orf52 piR-61514-010
GH01J085992 Enhancer 0.5 ENCODE 66.5 +164.0 163952 1.4 MAFK NFE2 NFE2L1 MAFG NFE2L2 MEF2A BACH1 RUNX3 COL24A1 piR-35189-001 ENSG00000229505 lnc-CLCA2-1
GH01J086105 Enhancer 0.7 Ensembl ENCODE 30.3 +51.8 51842 0.6 ZNF217 CTBP1 MYC FOXA1 MAZ DPF2 RFX5 SMARCE1 SMARCA5 COL24A1 piR-31470-021 piR-38352-015
GH01J086068 Enhancer 0.6 Ensembl ENCODE 20 +88.0 88016 1.7 ZIC2 FOS FOXA1 COL24A1 piR-34822-014 piR-38352-015
GH01J086085 Enhancer 0.3 Ensembl 21.5 +70.9 70942 0.8 ZBTB40 COL24A1 piR-38352-015 piR-31470-021
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around COL24A1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for COL24A1

Top Transcription factor binding sites by QIAGEN in the COL24A1 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • CRE-BP1
  • CREB
  • deltaCREB

Genomic Locations for COL24A1 Gene

Genomic Locations for COL24A1 Gene
chr1:85,729,233-86,156,943
(GRCh38/hg38)
Size:
427,711 bases
Orientation:
Minus strand
chr1:86,194,916-86,622,626
(GRCh37/hg19)
Size:
427,711 bases
Orientation:
Minus strand

Genomic View for COL24A1 Gene

Genes around COL24A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COL24A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COL24A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COL24A1 Gene

Proteins for COL24A1 Gene

  • Protein details for COL24A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q17RW2-COOA1_HUMAN
    Recommended name:
    Collagen alpha-1(XXIV) chain
    Protein Accession:
    Q17RW2
    Secondary Accessions:
    • C9J1X6
    • Q14BD7
    • Q59EX5
    • Q5VY50
    • Q7Z5L5

    Protein attributes for COL24A1 Gene

    Size:
    1714 amino acids
    Molecular mass:
    175496 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for COL24A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for COL24A1 Gene

Post-translational modifications for COL24A1 Gene

  • Glycosylation at Asn155, Asn321, and Asn376
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for COL24A1 Gene

Domains & Families for COL24A1 Gene

Gene Families for COL24A1 Gene

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

Protein Domains for COL24A1 Gene

Blocks:
  • Collagen triple helix repeat
  • Collagen helix repeat
  • Thrombospondin, N-terminal
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for COL24A1 Gene

GenScript: Design optimal peptide antigens:
  • Collagen alpha-1(XXIV) chain (COOA1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q17RW2

UniProtKB/Swiss-Prot:

COOA1_HUMAN :
  • Belongs to the fibrillar collagen family.
Family:
  • Belongs to the fibrillar collagen family.
genes like me logo Genes that share domains with COL24A1: view

Function for COL24A1 Gene

Molecular function for COL24A1 Gene

UniProtKB/Swiss-Prot Function:
May participate in regulating type I collagen fibrillogenesis at specific anatomical locations during fetal development.

Phenotypes From GWAS Catalog for COL24A1 Gene

Gene Ontology (GO) - Molecular Function for COL24A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005201 extracellular matrix structural constituent IBA 21873635
GO:0005515 protein binding IPI 25416956
GO:0030020 extracellular matrix structural constituent conferring tensile strength RCA 25037231
genes like me logo Genes that share ontologies with COL24A1: view
genes like me logo Genes that share phenotypes with COL24A1: view

Animal Models for COL24A1 Gene

MGI Knock Outs for COL24A1:
  • Col24a1 Col24a1<tm1b(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

miRNA for COL24A1 Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COL24A1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for COL24A1 Gene

Localization for COL24A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COL24A1 Gene

Secreted, extracellular space, extracellular matrix.

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 COL24A1 gene
Compartment Confidence
extracellular 4
endoplasmic reticulum 4
nucleus 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for COL24A1 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:0005788 endoplasmic reticulum lumen TAS --
GO:0031012 extracellular matrix IBA 21873635
genes like me logo Genes that share ontologies with COL24A1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for COL24A1 Gene

Pathways & Interactions for COL24A1 Gene

PathCards logo

SuperPathways for COL24A1 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 COL24A1: view

Pathways by source for COL24A1 Gene

1 KEGG pathway for COL24A1 Gene
15 Qiagen pathways for COL24A1 Gene
  • Blood Coagulation Cascade
  • ERK Signaling
  • FAK1 Signaling
  • GnRH Signaling
  • ILK Signaling

Gene Ontology (GO) - Biological Process for COL24A1 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 COL24A1: view

No data available for SIGNOR curated interactions for COL24A1 Gene

Drugs & Compounds for COL24A1 Gene

No Compound Related Data Available

Transcripts for COL24A1 Gene

mRNA/cDNA for COL24A1 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COL24A1

Alternative Splicing Database (ASD) splice patterns (SP) for COL24A1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^
SP1:
SP2:
SP3:
SP4: -

ExUns: 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37a · 37b ^ 38 ^ 39 ^ 40a · 40b ^ 41
SP1: -
SP2:
SP3:
SP4:

Relevant External Links for COL24A1 Gene

GeneLoc Exon Structure for
COL24A1

Expression for COL24A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for COL24A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for COL24A1 Gene

This gene is overexpressed in Lung (41.6), Plasma (18.2), and Heart (9.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for COL24A1 Gene



Protein tissue co-expression partners for COL24A1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for COL24A1

SOURCE GeneReport for Unigene cluster for COL24A1 Gene:

Hs.659516

Evidence on tissue expression from TISSUES for COL24A1 Gene

  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with COL24A1: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for COL24A1 Gene

Orthologs for COL24A1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for COL24A1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia COL24A1 30
  • 99.07 (n)
dog
(Canis familiaris)
Mammalia COL24A1 31 30
  • 90.32 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Col24a1 30
  • 83.87 (n)
mouse
(Mus musculus)
Mammalia Col24a1 17 31 30
  • 82.31 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 37 (a)
ManyToMany
chicken
(Gallus gallus)
Aves COL24A1 31 30
  • 70.27 (n)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii si:dkey-21p1.3 31
  • 40 (a)
ManyToMany
si:dkey-61l1.4 31
  • 35 (a)
ManyToMany
si:ch211-196i2.2 31
  • 30 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 36 (a)
OneToMany
Species where no ortholog for COL24A1 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)
  • cow (Bos Taurus)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • 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 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)
  • worm (Caenorhabditis elegans)

Evolution for COL24A1 Gene

ENSEMBL:
Gene Tree for COL24A1 (if available)
TreeFam:
Gene Tree for COL24A1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for COL24A1: view image

Paralogs for COL24A1 Gene

(28) SIMAP similar genes for COL24A1 Gene using alignment to 4 proteins:

  • COOA1_HUMAN
  • E9PNK8_HUMAN
  • F8WDM8_HUMAN
  • H0YCZ7_HUMAN
genes like me logo Genes that share paralogs with COL24A1: view

Variants for COL24A1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for COL24A1 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
712673 Benign: not provided 86,125,734(-) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT
779856 Benign: not provided 86,125,672(-) A/G NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT
782379 Benign: not provided 85,908,635(-) G/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
783937 Benign: not provided 85,868,619(-) G/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
rs774125436 Uncertain Significance: Malignant tumor of prostate 85,987,624(-) G/A NONSENSE,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for COL24A1 Gene

Structural Variations from Database of Genomic Variants (DGV) for COL24A1 Gene

Variant ID Type Subtype PubMed ID
dgv352n54 CNV loss 21841781
dgv353n54 CNV loss 21841781
dgv354n54 CNV loss 21841781
dgv355n54 CNV loss 21841781
dgv356n54 CNV loss 21841781
dgv54n67 CNV loss 20364138
esv1008311 CNV loss 20482838
esv1017473 CNV deletion 17803354
esv2075404 CNV deletion 18987734
esv23326 CNV loss 19812545
esv2421338 CNV deletion 20811451
esv25228 CNV loss 19812545
esv2595836 CNV deletion 19546169
esv2663357 CNV deletion 23128226
esv2675513 CNV deletion 23128226
esv2714307 CNV deletion 23290073
esv2714318 CNV deletion 23290073
esv2714329 CNV deletion 23290073
esv2763578 CNV gain 21179565
esv3565303 CNV deletion 23714750
esv3565315 CNV deletion 23714750
esv3577997 CNV loss 25503493
esv3586688 CNV loss 21293372
esv3586689 CNV loss 21293372
esv3586690 CNV loss 21293372
esv3586691 CNV gain 21293372
esv3586692 CNV loss 21293372
esv3715 CNV loss 18987735
esv4489 CNV loss 18987735
esv7008 CNV gain 19470904
esv8255 CNV loss 19470904
esv995781 CNV deletion 20482838
nsv1011293 CNV loss 25217958
nsv1012808 CNV loss 25217958
nsv10350 CNV loss 18304495
nsv1076584 CNV deletion 25765185
nsv1113144 CNV deletion 24896259
nsv1116488 OTHER inversion 24896259
nsv1116602 CNV tandem duplication 24896259
nsv1127008 CNV deletion 24896259
nsv1137779 CNV deletion 24896259
nsv1146893 CNV deletion 26484159
nsv433165 CNV loss 18776910
nsv437701 CNV loss 16327808
nsv437871 CNV loss 16468122
nsv462395 CNV gain 19166990
nsv462406 CNV gain 19166990
nsv474425 CNV novel sequence insertion 20440878
nsv476381 CNV novel sequence insertion 20440878
nsv506943 OTHER sequence alteration 20534489
nsv508371 CNV deletion 20534489
nsv511704 CNV loss 21212237
nsv522304 CNV gain 19592680
nsv525678 CNV loss 19592680
nsv546721 CNV gain 21841781
nsv546722 CNV loss 21841781
nsv546726 CNV gain 21841781
nsv546727 CNV loss 21841781
nsv546736 CNV loss 21841781
nsv546743 CNV loss 21841781
nsv546744 CNV loss 21841781
nsv546754 CNV loss 21841781
nsv546756 CNV loss 21841781
nsv546757 CNV gain 21841781
nsv546758 CNV loss 21841781
nsv819896 CNV loss 19587683
nsv823409 CNV loss 20364138
nsv830481 CNV gain 17160897
nsv954524 CNV deletion 24416366
nsv957159 CNV deletion 24416366

Variation tolerance for COL24A1 Gene

Residual Variation Intolerance Score: 78.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 21.18; 99.24% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for COL24A1 Gene

Human Gene Mutation Database (HGMD)
COL24A1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
COL24A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COL24A1 Gene

Disorders for COL24A1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for COL24A1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
anthracosilicosis
osteochondrosis
  • juvenile osteochondrosis of tibial tubercle
fibrochondrogenesis
  • fibrochondrogenesis 1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for COL24A1

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 COL24A1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for COL24A1 Gene

Publications for COL24A1 Gene

  1. 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
  2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41 54
  3. CREB-AP1 protein complexes regulate transcription of the collagen XXIV gene (Col24a1) in osteoblasts. (PMID: 16373341) Matsuo N … Ramirez F (The Journal of biological chemistry 2006) 2 3 54
  4. Collagen XXIV, a vertebrate fibrillar collagen with structural features of invertebrate collagens: selective expression in developing cornea and bone. (PMID: 12874293) Koch M … Gordon MK (The Journal of biological chemistry 2003) 3 4 54
  5. Characterization of the Extracellular Matrix of Normal and Diseased Tissues Using Proteomics. (PMID: 28675934) Naba A … Hynes RO (Journal of proteome research 2017) 3 54

Products for COL24A1 Gene

Sources for COL24A1 Gene