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Aliases for COL24A1 Gene

Aliases for COL24A1 Gene

  • Collagen Type XXIV Alpha 1 Chain 2 3 5
  • Collagen, Type XXIV, Alpha 1 2

External Ids for COL24A1 Gene

Previous GeneCards Identifiers for COL24A1 Gene

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

Summaries for COL24A1 Gene

GeneCards Summary for COL24A1 Gene

COL24A1 (Collagen Type XXIV Alpha 1 Chain) is a Protein Coding gene. Diseases associated with COL24A1 include Miller-Dieker Lissencephaly Syndrome. Among its related pathways are Collagen biosynthesis and modifying enzymes and Phospholipase-C Pathway. GO annotations related to this gene include extracellular matrix structural constituent. An important paralog of this gene is COL27A1.

UniProtKB/Swiss-Prot for COL24A1 Gene

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

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COL24A1 Gene

Genomics for COL24A1 Gene

Regulatory Elements for COL24A1 Gene

Enhancers for COL24A1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F085992 0.8 Ensembl ENCODE 66.5 +164.0 163953 1.4 MAFG NFE2L1 NFE2 MAFK NFE2L2 COL24A1 GC01P085978 GC01P086012
GH01F086105 0.6 ENCODE 24.6 +51.7 51671 0.2 ZNF217 MAZ CTBP1 DPF2 MYC COL24A1 GC01M086092 GC01P086114
GH01F086288 0.8 ENCODE 15.5 -132.2 -132175 2.1 HDAC1 CTCF TFAP4 TAL1 RAD21 ZNF101 ZNF335 ZFHX2 FOXK2 PRDM10 COL24A1 LOC105378824 GC01P086180
GH01F086068 0.5 Ensembl ENCODE 16.2 +88.5 88515 0.7 COL24A1 GC01M086035 GC01M086092
GH01F086154 0.9 ENCODE 8.3 +0.9 872 2.9 GLIS2 ZNF366 EGR2 ZNF202 ZNF263 YY2 ZEB2 ZNF518A ZNF843 ZSCAN16 COL24A1 GC01M086135
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around COL24A1 on UCSC Golden Path with GeneCards custom track

Promoters for COL24A1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000540073 443 1800 GLIS2 ZNF366 EGR2 ZNF202 ZNF263 YY2 ZEB2 ZNF518A ZNF843 ZSCAN16

Genomic Location for COL24A1 Gene

Chromosome:
1
Start:
85,729,233 bp from pter
End:
86,156,943 bp from pter
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 Asn 155, Asn 321, and Asn 376
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for COL24A1 Gene

Domains & Families for COL24A1 Gene

Gene Families for COL24A1 Gene

Suggested Antigen Peptide Sequences for COL24A1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q17RW2

UniProtKB/Swiss-Prot:

COOA1_HUMAN :
  • Contains 17 collagen-like domains.
  • Belongs to the fibrillar collagen family.
Domain:
  • Contains 17 collagen-like domains.
  • Contains 1 fibrillar collagen NC1 domain.
  • Contains 1 laminin G-like domain.
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.

Gene Ontology (GO) - Molecular Function for COL24A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005201 extracellular matrix structural constituent IEA --
GO:0005515 protein binding IPI 25416956
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:

Animal Model Products

miRNA for COL24A1 Gene

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 5
endoplasmic reticulum 5
nucleus 2
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:0005578 proteinaceous extracellular matrix IEA --
GO:0005581 collagen trimer IEA --
GO:0005788 endoplasmic reticulum lumen TAS --
genes like me logo Genes that share ontologies with COL24A1: view

Pathways & Interactions for COL24A1 Gene

genes like me logo Genes that share pathways with COL24A1: view

Gene Ontology (GO) - Biological Process for COL24A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002244 hematopoietic progenitor cell differentiation IEA --
genes like me logo Genes that share ontologies with COL24A1: view

No data available for SIGNOR curated interactions for COL24A1 Gene

Transcripts for COL24A1 Gene

Unigene Clusters for COL24A1 Gene

Collagen, type XXIV, alpha 1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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
ECgene alternative splicing isoforms 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, PaxDb, and MOPED for COL24A1 Gene



Protein tissue co-expression partners for COL24A1 Gene

NURSA nuclear receptor signaling pathways regulating expression of COL24A1 Gene:

COL24A1

SOURCE GeneReport for Unigene cluster for COL24A1 Gene:

Hs.659516
genes like me logo Genes that share expression patterns with COL24A1: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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 34
  • 99.07 (n)
dog
(Canis familiaris)
Mammalia COL24A1 34 35
  • 90.32 (n)
rat
(Rattus norvegicus)
Mammalia Col24a1 34
  • 83.87 (n)
mouse
(Mus musculus)
Mammalia Col24a1 34 16 35
  • 82.31 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 37 (a)
ManyToMany
chicken
(Gallus gallus)
Aves COL24A1 34 35
  • 70.27 (n)
zebrafish
(Danio rerio)
Actinopterygii si:dkey-21p1.3 35
  • 40 (a)
ManyToMany
si:dkey-61l1.4 35
  • 35 (a)
ManyToMany
si:ch211-196i2.2 35
  • 30 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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)

Paralogs for COL24A1 Gene

Variants for COL24A1 Gene

Sequence variations from dbSNP and Humsavar for COL24A1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs774125436 Uncertain significance 85,987,624(+) GTTTT(C/G)TCCAG nc-transcript-variant, reference, missense
rs10047143 -- 86,101,405(+) ccggc(C/T)aggac intron-variant
rs1010058 -- 85,842,542(-) TTGGG(G/T)GGTTA intron-variant
rs10158103 -- 85,775,470(+) gtggg(A/G/T)tgtta intron-variant
rs10158651 -- 85,808,642(+) AACTG(G/T)ACTTG intron-variant

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

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

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)

Relevant External Links for COL24A1 Gene

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

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

Disorder Aliases PubMed IDs
miller-dieker lissencephaly syndrome
  • mds
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for COL24A1

Genetic Association Database (GAD)
COL24A1
Human Genome Epidemiology (HuGE) Navigator
COL24A1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
COL24A1
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 J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  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 S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  3. CREB-AP1 protein complexes regulate transcription of the collagen XXIV gene (Col24a1) in osteoblasts. (PMID: 16373341) Matsuo N. … Ramirez F. (J. Biol. Chem. 2006) 2 3 64
  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 M.K. (J. Biol. Chem. 2003) 3 4 64
  5. Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles. (PMID: 25187353) Goldstein J.I. … Sullivan P.F. (Nat Commun 2014) 3 64

Products for COL24A1 Gene

Sources for COL24A1 Gene

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