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Aliases for MIR936 Gene

Subcategory (RNA class) for MIR936 Gene

miRNA

Quality Score for this RNA gene is

3

Aliases for MIR936 Gene

  • MicroRNA 936 2 3
  • COL17A1 4 5
  • 180 KDa Bullous Pemphigoid Antigen 2 4
  • Collagen Type XVII Alpha 1 Chain 5
  • Bullous Pemphigoid Antigen 2 4
  • Hsa-Mir-936 3
  • MIRN936 3
  • BPAG2 4
  • BP180 4

External Ids for MIR936 Gene

Previous HGNC Symbols for MIR936 Gene

  • MIRN936

Previous GeneCards Identifiers for MIR936 Gene

  • GC10M105799

Summaries for MIR936 Gene

Entrez Gene Summary for MIR936 Gene

  • microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]

GeneCards Summary for MIR936 Gene

MIR936 (MicroRNA 936) is an RNA Gene, and is affiliated with the miRNA class. Diseases associated with MIR936 include Linear Iga Disease and Epithelial Recurrent Erosion Dystrophy. Among its related pathways are Degradation of the extracellular matrix and Collagen biosynthesis and modifying enzymes. An important paralog of this gene is COL6A1.

UniProtKB/Swiss-Prot for MIR936 Gene

  • May play a role in the integrity of hemidesmosome and the attachment of basal keratinocytes to the underlying basement membrane.

  • The 120 kDa linear IgA disease antigen is an anchoring filament component involved in dermal-epidermal cohesion. Is the target of linear IgA bullous dermatosis autoantibodies.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MIR936 Gene

Genomics for MIR936 Gene

Regulatory Elements for MIR936 Gene

Enhancers for MIR936 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
GH10F104109 1 FANTOM5 Ensembl ENCODE 11.6 -24.2 -24153 1.6 HDAC1 PKNOX1 JUN SIN3A EBF1 PRDM10 FOS MTA2 CEBPB EP300 SFR1 COL17A1 MIR936 STN1 CFAP43 GSTO1 CFAP58 SLK
GH10F104027 0.6 ENCODE 11.6 +58.2 58186 0.1 MIR936 SLK RN7SL524P GC10M104085 GC10M104086
GH10F104115 0.6 Ensembl ENCODE 11.4 -33.5 -33534 8.3 HDGF PKNOX1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 YY1 ZNF207 ZNF143 PDCD11 MIR936 ENSG00000260461 MARCKSL1P1 STN1 CFAP43 SFR1 COL17A1
GH10F104051 1 Ensembl ENCODE 11.3 +32.7 32653 4.7 JUND NFIA SMARCA4 JUN CEBPB NFE2L2 MIR936 COL17A1 SFR1 CFAP43 GSTO2 GC10M104085 GC10M104086 RN7SL524P
GH10F104059 0.2 ENCODE 11 +26.1 26113 0.0 COL17A1 MIR936 GC10M104085 GC10M104086 RN7SL524P
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around MIR936 on UCSC Golden Path with GeneCards custom track

Genomic Location for MIR936 Gene

Chromosome:
10
Start:
104,031,286 bp from pter
End:
104,086,002 bp from pter
Size:
54,717 bases
Orientation:
Minus strand

Genomic View for MIR936 Gene

Genes around MIR936 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MIR936 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MIR936 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MIR936 Gene

Proteins for MIR936 Gene

  • Protein details for MIR936 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UMD9-COHA1_HUMAN
    Recommended name:
    Collagen alpha-1(XVII) chain
    Protein Accession:
    Q9UMD9
    Secondary Accessions:
    • Q02802
    • Q5JV36
    • Q99018
    • Q9NQK9
    • Q9UC14

    Protein attributes for MIR936 Gene

    Size:
    1497 amino acids
    Molecular mass:
    150419 Da
    Quaternary structure:
    • Homotrimers of alpha 1(XVII)chains. Interacts (via cytoplasmic region) with ITGB4 (via cytoplasmic region). Interacts (via cytoplasmic region) with DST isoform 3 (via N-terminus). Interacts (via N-terminus) with PLEC. Interacts (via cytoplasmic region) with DSP.
    • Homotrimers of alpha 1(XVII)chains. Interacts (via cytoplasmic region) with ITGB4 (via cytoplasmic region). Interacts (via cytoplasmic region) with DST isoform 3 (via N-terminus). Interacts (via N-terminus) with PLEC. Interacts (via cytoplasmic region) with DSP.
    Miscellaneous:
    • Both the 120 kDa linear IgA disease antigen and the 97 kDa linear IgA disease antigen of COL17A1, represent major antigenic targets of autoantibodies in patients with linear IgA disease (LAD). LAD is a subepidermal blistering disorder characterized by tissue-bound and circulating IgA autoantibodies to the dermal-epidermal junction. These IgA autoantibodies preferentially react with 97 and the 120 kDa forms, but not with the full-length COL17A1, suggesting that the cleavage of the ectodomain generates novel autoantigenic epitopes.
    SequenceCaution:
    • Sequence=AAA35605.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAH04478.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};

    Alternative splice isoforms for MIR936 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MIR936 Gene

Post-translational modifications for MIR936 Gene

  • Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.
  • The ectodomain is shedded from the surface of keratinocytes resulting in a 120-kDa soluble form, also named as 120 kDa linear IgA disease antigen. The shedding is mediated by membrane-bound metalloproteases. This cleavage is inhibited by phosphorylation at Ser-544.
  • The intracellular/endo domain is disulfide-linked.
  • Glycosylation at Thr 1284 and Asn 1421
  • Modification sites at PhosphoSitePlus

Other Protein References for MIR936 Gene

No data available for DME Specific Peptides for MIR936 Gene

Domains & Families for MIR936 Gene

Gene Families for MIR936 Gene

Protein Domains for MIR936 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with MIR936: view

No data available for Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for MIR936 Gene

Function for MIR936 Gene

Molecular function for MIR936 Gene

UniProtKB/Swiss-Prot Function:
May play a role in the integrity of hemidesmosome and the attachment of basal keratinocytes to the underlying basement membrane.
UniProtKB/Swiss-Prot Function:
The 120 kDa linear IgA disease antigen is an anchoring filament component involved in dermal-epidermal cohesion. Is the target of linear IgA bullous dermatosis autoantibodies.

Animal Model Products

miRNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for MIR936 Gene

Localization for MIR936 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MIR936 Gene

Cell junction, hemidesmosome. Membrane; Single-pass type II membrane protein. Note=Localized along the plasma membrane of the hemidesmosome.
120 kDa linear IgA disease antigen: Secreted, extracellular space, extracellular matrix, basement membrane. Note=Exclusively localized to anchoring filaments. Localized to the epidermal side of split skin.
97 kDa linear IgA disease antigen: Secreted, extracellular space, extracellular matrix, basement membrane. Note=Localized in the lamina lucida beneath the hemidesmosomes.

Gene Ontology (GO) - Cellular Components for MIR936 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:0005604 basement membrane IEA --
GO:0005788 endoplasmic reticulum lumen TAS --
genes like me logo Genes that share ontologies with MIR936: view

No data available for Subcellular locations from COMPARTMENTS for MIR936 Gene

Pathways & Interactions for MIR936 Gene

genes like me logo Genes that share pathways with MIR936: view

Gene Ontology (GO) - Biological Process for MIR936 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007160 cell-matrix adhesion TAS --
GO:0008544 epidermis development TAS --
GO:0031581 hemidesmosome assembly TAS --
GO:0050776 regulation of immune response TAS --
genes like me logo Genes that share ontologies with MIR936: view

No data available for SIGNOR curated interactions for MIR936 Gene

Transcripts for MIR936 Gene

mRNA/cDNA for MIR936 Gene

(8) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for MIR936 Gene

No ASD Table

Relevant External Links for MIR936 Gene

GeneLoc Exon Structure for
MIR936
ECgene alternative splicing isoforms for
MIR936

Expression for MIR936 Gene

mRNA expression in normal human tissues for MIR936 Gene

mRNA differential expression in normal tissues according to GTEx for MIR936 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x26.0) and Skin - Sun Exposed (Lower leg) (x20.1).

NURSA nuclear receptor signaling pathways regulating expression of MIR936 Gene:

MIR936

mRNA Expression by UniProt/SwissProt for MIR936 Gene:

Q9UMD9-COHA1_HUMAN
Tissue specificity: Detected in skin (PubMed:8618013). In the cornea, it is detected in the epithelial basement membrane, the epithelial cells, and at a lower level in stromal cells (at protein level) (PubMed:25676728). Stratified squamous epithelia. Found in hemidesmosomes. Expressed in cornea, oral mucosa, esophagus, intestine, kidney collecting ducts, ureter, bladder, urethra and thymus but is absent in lung, blood vessels, skeletal muscle and nerves.
genes like me logo Genes that share expression patterns with MIR936: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for MIR936 Gene

Orthologs for MIR936 Gene

This gene was present in the common ancestor of animals.

Orthologs for MIR936 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia COL17A1 35
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia COL17A1 35
  • 84 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 82 (a)
OneToMany
-- 35
  • 78 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Col17a1 35
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia COL17A1 35
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia COL17A1 35
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves COL17A1 35
  • 63 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia COL17A1 35
  • 63 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii col17a1a 35
  • 43 (a)
OneToMany
col17a1b 35
  • 43 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea col-89 35
  • 39 (a)
ManyToMany
col-118 35
  • 37 (a)
ManyToMany
col-10 35
  • 36 (a)
ManyToMany
col-126 35
  • 36 (a)
ManyToMany
col-127 35
  • 36 (a)
ManyToMany
col-145 35
  • 36 (a)
ManyToMany
col-148 35
  • 36 (a)
ManyToMany
col-150 35
  • 36 (a)
ManyToMany
col-187 35
  • 36 (a)
ManyToMany
col-144 35
  • 35 (a)
ManyToMany
col-176 35
  • 35 (a)
ManyToMany
col-61 35
  • 35 (a)
ManyToMany
col-149 35
  • 34 (a)
ManyToMany
col-177 35
  • 27 (a)
ManyToMany
Species where no ortholog for MIR936 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)
  • rat (Rattus norvegicus)
  • 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 MIR936 Gene

ENSEMBL:
Gene Tree for MIR936 (if available)
TreeFam:
Gene Tree for MIR936 (if available)

Paralogs for MIR936 Gene

Paralogs for MIR936 Gene

genes like me logo Genes that share paralogs with MIR936: view

Variants for MIR936 Gene

Sequence variations from dbSNP and Humsavar for MIR936 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs10883963 -- 104,049,913(+) ATACC(C/T)CCTTA intron-variant, upstream-variant-2KB
rs111830325 -- 104,048,227(+) GCCAC(A/G)GGACA intron-variant, upstream-variant-2KB
rs111874835 -- 104,049,225(+) AGAGG(G/T)ACCTG intron-variant, upstream-variant-2KB
rs112526889 -- 104,048,106(+) GGACC(A/C/T)GGTAA nc-transcript-variant, splice-acceptor-variant
rs114340599 -- 104,047,736(+) TCTGT(C/T)ACCTG intron-variant, downstream-variant-500B

Relevant External Links for MIR936 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MIR936

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Structural Variations from Database of Genomic Variants (DGV) and Variation tolerance for MIR936 Gene

Disorders for MIR936 Gene

MalaCards: The human disease database

(3) MalaCards diseases for MIR936 Gene - From: GeneCards

Disorder Aliases PubMed IDs
linear iga disease
  • lad
epithelial recurrent erosion dystrophy
  • dystrophia helsinglandica
bullous pemphigoid
  • benign pemphigus
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

COHA1_HUMAN
  • Epithelial recurrent erosion dystrophy (ERED) [MIM:122400]: A corneal dystrophy characterized by recurrent episodes of epithelial erosions from childhood, with occasional impairment of vision. Most patients have attacks of redness, photophobia, epiphora, and ocular pain. Exposure to sunlight or draught, dust and smoke and lack of sleep can precipitate attacks. {ECO:0000269 PubMed:25676728}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650]: A non-lethal, adult form of junctional epidermolysis bullosa characterized by life-long blistering of the skin, associated with hair and tooth abnormalities. {ECO:0000269 PubMed:10652291, ECO:0000269 PubMed:10951237, ECO:0000269 PubMed:11912005, ECO:0000269 PubMed:8669466, ECO:0000269 PubMed:9199555}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for MIR936

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MIR936
genes like me logo Genes that share disorders with MIR936: view

No data available for Genatlas for MIR936 Gene

Publications for MIR936 Gene

  1. Mutations in Collagen, Type XVII, Alpha 1 (COL17A1) Cause Epithelial Recurrent Erosion Dystrophy (ERED). (PMID: 25676728) Jonsson F. … Golovleva I. (Hum. Mutat. 2015) 4 64
  2. Initial characterization of the human central proteome. (PMID: 21269460) Burkard T.R. … Colinge J. (BMC Syst. Biol. 2011) 4 64
  3. Patterns of known and novel small RNAs in human cervical cancer. (PMID: 17616659) Lui W.O. … Fire A. (Cancer Res. 2007) 3 64
  4. Extracellular phosphorylation of collagen XVII by ecto-casein kinase 2 inhibits ectodomain shedding. (PMID: 17545155) Zimina E.P. … Bruckner-Tuderman L. (J. Biol. Chem. 2007) 4 64
  5. miRBase: microRNA sequences, targets and gene nomenclature. (PMID: 16381832) Griffiths-Jones S. … Enright A.J. (Nucleic Acids Res. 2006) 3 64

Products for MIR936 Gene

Sources for MIR936 Gene

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