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    DMKN dermokine [ Homo sapiens (human) ]

    Gene ID: 93099, updated on 27-Nov-2024

    Summary

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    Official Symbol
    DMKNprovided by HGNC
    Official Full Name
    dermokineprovided by HGNC
    Primary source
    HGNC:HGNC:25063
    See related
    Ensembl:ENSG00000161249 MIM:617211; AllianceGenome:HGNC:25063
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    UNQ729; ZD52F10
    Summary
    This gene is upregulated in inflammatory diseases, and it was first observed as expressed in the differentiated layers of skin. The most interesting aspect of this gene is the differential use of promoters and terminators to generate isoforms with unique cellular distributions and domain components. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2010]
    Expression
    Biased expression in skin (RPKM 387.3) and esophagus (RPKM 47.0) See more
    Orthologs
    mouse all
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    Genomic context

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    See DMKN in Genome Data Viewer
    Location:
    19q13.12
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (35497220..35513649, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (38041938..38058366, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (35988122..36004551, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene keratinocyte differentiation associated protein Neighboring gene uncharacterized LOC124904703 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:35985748-35986694 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:35991019-35991520 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:35991521-35992020 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14482 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:36016123-36016795 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:36017917-36018418 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:36019864-36020364 Neighboring gene suprabasin Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14483 Neighboring gene glyceraldehyde-3-phosphate dehydrogenase, spermatogenic Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:36031035-36031534 Neighboring gene TMEM147 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:36033929-36034430 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:36036145-36036837

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. The human dermokine gene: description of novel isoforms with different tissue-specific expression and subcellular location. Toulza E, et al. J Invest Dermatol, 2006 Feb. PMID 16374476
    2. Dermokine expression in intraductal papillary-mucinous neoplasm and invasive pancreatic carcinoma. Watanabe K, et al. Anticancer Res, 2012 Oct. PMID 23060565
    3. Dermokine: an extensively differentially spliced gene expressed in epithelial cells. Naso MF, et al. J Invest Dermatol, 2007 Jul. PMID 17380110
    4. The ubiquitous dermokine delta activates Rab5 function in the early endocytic pathway. Leclerc EA, et al. PLoS One, 2011 Mar 10. PMID 21423773, Free PMC Article
    5. Dermokine contributes to epithelial-mesenchymal transition through increased activation of signal transducer and activator of transcription 3 in pancreatic cancer. Huang C, et al. Cancer Sci, 2017 Nov. PMID 28795470, Free PMC Article

    See all (31) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. we showed that DMKN loss of function in Patu-8988 and PANC-1 pancreatic cancer cell lines resulted in reduced phosphorylation of STAT3.these data suggested that DMKN could be a potential prognostic biomarker and therapeutic target in pancreatic cancer.
      Title: Dermokine contributes to epithelial-mesenchymal transition through increased activation of signal transducer and activator of transcription 3 in pancreatic cancer.
    2. These results suggest that dermokine-beta delays early cutaneous wound healing in part by inhibiting expression of CXC chemokines containing the ERL-sequence motif.
      Title: Dermokine inhibits ELR(+)CXC chemokine expression and delays early skin wound healing.
    3. Serum DK is a potential biomarker in intraductal papillary mucinous neoplasm and invasive ductal carcinoma, when used in combination with conventional biomarkers.
      Title: Dermokine expression in intraductal papillary-mucinous neoplasm and invasive pancreatic carcinoma.
    4. Dermokine-beta impairs ERK signaling through direct binding to GRP78
      Title: Dermokine-β impairs ERK signaling through direct binding to GRP78.
    5. Dmkndelta activates Rab5 function and thus is involved in the early endosomal trafficking.
      Title: The ubiquitous dermokine delta activates Rab5 function in the early endocytic pathway.
    6. Dermokine gene is expressed in epithelial tissues other than the skin and this expression is transcriptionally and posttranscriptionally complex.
      Title: Dermokine: an extensively differentially spliced gene expressed in epithelial cells.
    7. Analysis of alternative spliced transcripts produced from the dermokine gene.
      Title: The human dermokine gene: description of novel isoforms with different tissue-specific expression and subcellular location.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ79374

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cornified envelope assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    dermokine
    Names
    epidermis-specific secreted protein SK30/SK89

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001035516.4 → NP_001030593.2  dermokine isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 2. The encoded isoform (1, also referred to as isoform alpha) has a distinct N-terminus and is shorter than isoform 2.
      Source sequence(s)
      AD001502
      Consensus CDS
      CCDS42549.1
      UniProtKB/TrEMBL
      M0R1M0
      Related
      ENSP00000386225.2, ENST00000408915.6

    2. NM_001126056.3 → NP_001119528.3  dermokine isoform 3 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon and contains three additional alternate in-frame exons in the coding region, compared to variant 2. This results in a shorter protein (isoform 3, also referred to as isoform beta-2), compared to isoform 2.
      Source sequence(s)
      AC138125, AD001502
      Consensus CDS
      CCDS46054.2
      Related
      ENSP00000391036.1, ENST00000419602.5

    3. NM_001126057.3 → NP_001119529.2  dermokine isoform 5 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 3' coding region and 3' UTR, compared to variant 2. The resulting isoform (5, also referred to as isoform gamma 2) has a distinct C-terminus and is shorter than isoform 2.
      Source sequence(s)
      AC138125, AY358412, AY789697
      Consensus CDS
      CCDS46053.1
      UniProtKB/Swiss-Prot
      Q6E0U4
      Related
      ENSP00000388404.2, ENST00000424570.6

    4. NM_001126058.3 → NP_001119530.2  dermokine isoform 4 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 3' coding region and 3' UTR, compared to variant 2. The resulting isoform (4, also referred to as isoform gamma 1) has a distinct C-terminus and is shorter than isoform 2.
      Source sequence(s)
      AC138125, AY358412, AY789696
      Consensus CDS
      CCDS46052.1
      UniProtKB/Swiss-Prot
      Q6E0U4
      Related
      ENSP00000414743.1, ENST00000418261.5

    5. NM_001126059.4 → NP_001119531.2  dermokine isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 2. The encoded isoform (6, also referred to as isoform delta) has a distinct N-terminus and is shorter than isoform 2.
      Source sequence(s)
      AD001502
      Consensus CDS
      CCDS46051.1
      Related
      ENSP00000392222.2, ENST00000414866.6

    6. NM_001190347.2 → NP_001177276.2  dermokine isoform 8 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) lacks an alternate in-frame exon and contains two additional alternate in-frame exons in the coding region, compared to variant 2. This results in a shorter protein (isoform 8, also referred to as isoform beta-1), compared to isoform 2.
      Source sequence(s)
      AC138125, AD001502
      Consensus CDS
      CCDS54250.1
      Related
      ENSP00000405503.1, ENST00000429837.5

    7. NM_001190348.2 → NP_001177277.1  dermokine isoform 9 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) has multiple difference compared to variant 2. This variant encodes isoform 9, which is shorter than isoform 2.
      Source sequence(s)
      AC138125, AY358412, AY789697, EF158326
      Consensus CDS
      CCDS54252.1
      UniProtKB/Swiss-Prot
      Q6E0U4
      UniProtKB/TrEMBL
      A3EZ84
      Related
      ENSP00000394908.2, ENST00000447113.6

    8. NM_001190349.2 → NP_001177278.1  dermokine isoform 10 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10) has multiple difference compared to variant 2. This variant encodes isoform 10 (also referred to as isoform gamma 1), which is shorter than isoform 2.
      Source sequence(s)
      AC138125, AY358412, AY789697
      Consensus CDS
      CCDS54251.1
      UniProtKB/Swiss-Prot
      Q6E0U4
      Related
      ENSP00000409513.2, ENST00000451297.6

    9. NM_001308380.2 → NP_001295309.2  dermokine isoform 11

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11) differs in the 5' UTR and has multiple coding region differences, one of which results in use of an alternate start codon and novel 5' coding region compared to variant 2. It encodes isoform 11, which is shorter than and has a distinct N-terminus compared to isoform 2.
      Source sequence(s)
      AD001502
      Consensus CDS
      CCDS77279.1
      UniProtKB/TrEMBL
      C9JCN1, H7BZ95
      Related
      ENSP00000384509.2, ENST00000402589.6

    10. NM_001308383.2 → NP_001295312.2  dermokine isoform 12

      Status: REVIEWED

      Description
      Transcript Variant: This variant (12) differs in the 5' UTR and has multiple coding region differences, one of which results in use of an alternate start codon and novel 5' coding region compared to variant 2. It encodes isoform 12, which is shorter than and has a distinct N-terminus compared to isoform 2.
      Source sequence(s)
      AD001502
      Consensus CDS
      CCDS77278.1
      UniProtKB/TrEMBL
      C9J186
      Related
      ENSP00000412075.1, ENST00000436012.5

    11. NM_001352328.2 → NP_001339257.2  dermokine isoform 13

      Status: REVIEWED

      Source sequence(s)
      AD001502

    12. NM_001352329.2 → NP_001339258.2  dermokine isoform 14

      Status: REVIEWED

      Source sequence(s)
      AD001502
      Consensus CDS
      CCDS86745.1
      UniProtKB/TrEMBL
      S4R3L7
      Related
      ENSP00000473341.2, ENST00000472252.6

    13. NM_001352330.2 → NP_001339259.2  dermokine isoform 14

      Status: REVIEWED

      Source sequence(s)
      AD001502
      Consensus CDS
      CCDS86745.1
      UniProtKB/TrEMBL
      S4R3L7

    14. NM_001352331.2 → NP_001339260.1  dermokine isoform 15

      Status: REVIEWED

      Source sequence(s)
      CD174636, CD388805, EF158325
      Consensus CDS
      CCDS86747.1
      UniProtKB/TrEMBL
      C9J3V3, E9PAQ7
      Related
      ENSP00000376042.2, ENST00000392206.6

    15. NM_001352332.2 → NP_001339261.1  dermokine isoform 16

      Status: REVIEWED

      Source sequence(s)
      CD388805
      Consensus CDS
      CCDS86746.1
      UniProtKB/TrEMBL
      M0R3F8
      Related
      ENSP00000473191.1, ENST00000488892.5

    16. NM_033317.5 → NP_201574.4  dermokine isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) represents the longest transcript and encodes the longest isoform (2, also referred to as isoform beta).
      Source sequence(s)
      AC138125, AD001502
      Consensus CDS
      CCDS12463.1
      UniProtKB/Swiss-Prot
      A3EZ79, A3EZ80, A3EZ81, A3EZ82, A3EZ83, C9J4P6, C9J5N8, C9JAL3, Q32W58, Q32W62, Q32W63, Q32W64, Q32W65, Q32W66, Q32W67, Q6E0U4, Q6E0U5, Q6UXC7, Q96EW8, Q9BSY6
      Related
      ENSP00000342012.3, ENST00000339686.8

    RNA

    1. NR_033746.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) differs at its 5' end compared to variant 2. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest in-frame ORF compared to variant 2; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AD001502
      Related
      ENST00000462721.5

    2. NR_147958.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      CD173452, EF158325
      Related
      ENST00000480507.1

    3. NR_147959.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AD001502

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      35497220..35513649 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011527500.3 → XP_011525802.1  dermokine isoform X4

    2. XM_011527501.3 → XP_011525803.1  dermokine isoform X5

    3. XM_011527497.3 → XP_011525799.1  dermokine isoform X3

      See identical proteins and their annotated locations for XP_011525799.1

    4. XM_011527498.3 → XP_011525800.1  dermokine isoform X3

      See identical proteins and their annotated locations for XP_011525800.1

    5. XM_011527495.3 → XP_011525797.1  dermokine isoform X2

      See identical proteins and their annotated locations for XP_011525797.1

    6. XM_047439696.1 → XP_047295652.1  dermokine isoform X14

    7. XM_047439695.1 → XP_047295651.1  dermokine isoform X13

      UniProtKB/Swiss-Prot
      A3EZ79, A3EZ80, A3EZ81, A3EZ82, A3EZ83, C9J4P6, C9J5N8, C9JAL3, Q32W58, Q32W62, Q32W63, Q32W64, Q32W65, Q32W66, Q32W67, Q6E0U4, Q6E0U5, Q6UXC7, Q96EW8, Q9BSY6

    8. XM_047439692.1 → XP_047295648.1  dermokine isoform X11

    9. XM_047439693.1 → XP_047295649.1  dermokine isoform X11

    10. XM_047439689.1 → XP_047295645.1  dermokine isoform X9

    11. XM_047439690.1 → XP_047295646.1  dermokine isoform X9

    12. XM_047439686.1 → XP_047295642.1  dermokine isoform X6

    13. XM_047439694.1 → XP_047295650.1  dermokine isoform X12

    14. XM_047439688.1 → XP_047295644.1  dermokine isoform X8

    15. XM_047439687.1 → XP_047295643.1  dermokine isoform X7

    16. XM_047439685.1 → XP_047295641.1  dermokine isoform X1

    17. XM_047439691.1 → XP_047295647.1  dermokine isoform X10

    18. XM_047439707.1 → XP_047295663.1  dermokine isoform X26

    19. XM_006723489.1 → XP_006723552.1  dermokine isoform X27

      See identical proteins and their annotated locations for XP_006723552.1

      UniProtKB/TrEMBL
      H7BZ95

    20. XM_047439706.1 → XP_047295662.1  dermokine isoform X25

      UniProtKB/TrEMBL
      C9J186

    21. XM_047439705.1 → XP_047295661.1  dermokine isoform X24

    22. XM_047439704.1 → XP_047295660.1  dermokine isoform X23

    23. XM_047439703.1 → XP_047295659.1  dermokine isoform X21

      UniProtKB/TrEMBL
      C9JCN1

    24. XM_047439701.1 → XP_047295657.1  dermokine isoform X20

    25. XM_047439702.1 → XP_047295658.1  dermokine isoform X20

    26. XM_006723484.2 → XP_006723547.1  dermokine isoform X18

      UniProtKB/TrEMBL
      H7BZ95

    27. XM_024451776.2 → XP_024307544.1  dermokine isoform X22

      UniProtKB/TrEMBL
      H7BZ95, M0R0A5
      Related
      ENSP00000471112.1, ENST00000467637.5

    28. XM_047439699.1 → XP_047295655.1  dermokine isoform X19

    29. XM_047439700.1 → XP_047295656.1  dermokine isoform X19

    30. XM_047439698.1 → XP_047295654.1  dermokine isoform X17

    31. XM_047439697.1 → XP_047295653.1  dermokine isoform X16

    32. XM_006723477.2 → XP_006723540.1  dermokine isoform X15

      UniProtKB/TrEMBL
      C9IYI1
      Related
      ENSP00000406864.1, ENST00000443640.5

    RNA

    1. XR_935873.3 RNA Sequence

    2. XR_935872.3 RNA Sequence

    3. XR_007067040.1 RNA Sequence

    4. XR_007067043.1 RNA Sequence

      Related
      ENST00000488542.6

    5. XR_007067042.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      38041938..38058366 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054322632.1 → XP_054178607.1  dermokine isoform X4

    2. XM_054322633.1 → XP_054178608.1  dermokine isoform X5

    3. XM_054322630.1 → XP_054178605.1  dermokine isoform X3

    4. XM_054322631.1 → XP_054178606.1  dermokine isoform X3

    5. XM_054322629.1 → XP_054178604.1  dermokine isoform X2

    6. XM_054322644.1 → XP_054178619.1  dermokine isoform X14

    7. XM_054322643.1 → XP_054178618.1  dermokine isoform X13

    8. XM_054322640.1 → XP_054178615.1  dermokine isoform X11

    9. XM_054322641.1 → XP_054178616.1  dermokine isoform X11

    10. XM_054322637.1 → XP_054178612.1  dermokine isoform X9

    11. XM_054322638.1 → XP_054178613.1  dermokine isoform X9

    12. XM_054322634.1 → XP_054178609.1  dermokine isoform X6

    13. XM_054322642.1 → XP_054178617.1  dermokine isoform X12

    14. XM_054322636.1 → XP_054178611.1  dermokine isoform X8

    15. XM_054322635.1 → XP_054178610.1  dermokine isoform X7

    16. XM_054322628.1 → XP_054178603.1  dermokine isoform X1

    17. XM_054322639.1 → XP_054178614.1  dermokine isoform X10

    18. XM_054322658.1 → XP_054178633.1  dermokine isoform X26

    19. XM_054322659.1 → XP_054178634.1  dermokine isoform X27

    20. XM_054322657.1 → XP_054178632.1  dermokine isoform X25

    21. XM_054322656.1 → XP_054178631.1  dermokine isoform X24

    22. XM_054322655.1 → XP_054178630.1  dermokine isoform X23

    23. XM_054322653.1 → XP_054178628.1  dermokine isoform X21

    24. XM_054322651.1 → XP_054178626.1  dermokine isoform X20

    25. XM_054322652.1 → XP_054178627.1  dermokine isoform X20

    26. XM_054322648.1 → XP_054178623.1  dermokine isoform X18

    27. XM_054322654.1 → XP_054178629.1  dermokine isoform X22

    28. XM_054322649.1 → XP_054178624.1  dermokine isoform X19

    29. XM_054322650.1 → XP_054178625.1  dermokine isoform X19

    30. XM_054322647.1 → XP_054178622.1  dermokine isoform X17

    31. XM_054322646.1 → XP_054178621.1  dermokine isoform X16

    32. XM_054322645.1 → XP_054178620.1  dermokine isoform X15

    RNA

    1. XR_008485219.1 RNA Sequence

    2. XR_008485218.1 RNA Sequence

    3. XR_008485220.1 RNA Sequence

    4. XR_008485222.1 RNA Sequence

    5. XR_008485221.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6E0U4.3 GenPept UniProtKB/Swiss-Prot:Q6E0U4

    Gene LinkOut

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