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    DAAM2 dishevelled associated activator of morphogenesis 2 [ Homo sapiens (human) ]

    Gene ID: 23500, updated on 2-Nov-2024

    Summary

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    Official Symbol
    DAAM2provided by HGNC
    Official Full Name
    dishevelled associated activator of morphogenesis 2provided by HGNC
    Primary source
    HGNC:HGNC:18143
    See related
    Ensembl:ENSG00000146122 MIM:606627; AllianceGenome:HGNC:18143
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NPHS24; dJ90A20A.1
    Summary
    Predicted to enable actin binding activity and small GTPase binding activity. Involved in several processes, including podocyte cell migration; regulation of actin filament polymerization; and regulation of filopodium assembly. Located in extracellular exosome. Implicated in familial nephrotic syndrome. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in brain (RPKM 23.5), esophagus (RPKM 10.9) and 20 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DAAM2 in Genome Data Viewer
    Location:
    6p21.2
    Exon count:
    33
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (39792376..39904869)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (39616906..39731294)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (39760152..39872645)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene kinesin family member 6 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:39522677-39523579 Neighboring gene E2F transcription factor 4 pseudogene 1 Neighboring gene RNA, U1 small nuclear 54, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17167 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:39693187-39693518 Neighboring gene uncharacterized LOC124901487 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr6:39791936-39792496 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:39817294-39817794 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:39832273-39832772 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:39855425-39856624 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:39864575-39865074 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:39865375-39865891 Neighboring gene DAAM2 antisense RNA 1 Neighboring gene uncharacterized LOC102723789 Neighboring gene molybdenum cofactor synthesis 1 Neighboring gene ribosomal protein L23 pseudogene 6 Neighboring gene tubulin beta class I pseudogene 9

    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 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 prognostic value of DAAM2 in lower grade glioma, liver cancer, and breast cancer. Li Z, et al. Clin Transl Oncol, 2023 Jul. PMID 36790676
    2. Correlation Between Daam2 Expression Changes and Demyelination in Guillain-Barre Syndrome. Cui Q, et al. Cell Mol Neurobiol, 2016 Jul. PMID 26293489
    3. DAAM2 is elevated in the circulation and placenta in pregnancies complicated by fetal growth restriction and is regulated by hypoxia. de Alwis N, et al. Sci Rep, 2021 Mar 10. PMID 33692394, Free PMC Article
    4. Placental DAAM2 is unaltered in preeclampsia, but upregulated by treatment with proton pump inhibitors. de Alwis N, et al. Pregnancy Hypertens, 2022 Dec. PMID 35933758
    5. Identification and characterization of human DAAM2 gene in silico. Katoh M, et al. Int J Oncol, 2003 Apr. PMID 12632087

    See all (29) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The prognostic value of DAAM2 in lower grade glioma, liver cancer, and breast cancer.
      Title: The prognostic value of DAAM2 in lower grade glioma, liver cancer, and breast cancer.
    2. Placental DAAM2 is unaltered in preeclampsia, but upregulated by treatment with proton pump inhibitors.
      Title: Placental DAAM2 is unaltered in preeclampsia, but upregulated by treatment with proton pump inhibitors.
    3. Disheveled-associated activator of morphogenesis 2 promotes invasion of colorectal cancer by activating PAK1 and promoting MMP7 expression.
      Title: Disheveled-associated activator of morphogenesis 2 promotes invasion of colorectal cancer by activating PAK1 and promoting MMP7 expression.
    4. DAAM2 is elevated in the circulation and placenta in pregnancies complicated by fetal growth restriction and is regulated by hypoxia.
      Title: DAAM2 is elevated in the circulation and placenta in pregnancies complicated by fetal growth restriction and is regulated by hypoxia.
    5. DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation.
      Title: DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation.
    6. Biochemical analyses demonstrate that Daam2 associates with VHL and facilitates its ubiquitination and degradation.
      Title: Daam2 driven degradation of VHL promotes gliomagenesis.
    7. Reduction of Daam2 expression occurred with clinical improvement of the patients
      Title: Correlation Between Daam2 Expression Changes and Demyelination in Guillain-Barre Syndrome.
    8. miR-335 regulates the expression of at least five formin family members, three of which are validated, FMNL3, FMN2 and DAAM2.
      Title: Metastasis suppressor microRNA-335 targets the formin family of actin nucleators.
    9. Observational study of gene-disease association. (HuGE Navigator)
      Title: Wnt antagonist gene polymorphisms and renal cancer.
    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

    Associated conditions

    Description Tests
    Nephrotic syndrome, type 24
    MedGen: C5543267 OMIM: 619263 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    Genome-wide association analyses identify variants in developmental genes associated with hypospadias.
    EBI GWAS Catalog
    Genome-wide association study identifies five loci associated with lung function.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0381, MGC90515

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables small GTPase binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in actin cytoskeleton organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in determination of left/right symmetry IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in dorsal spinal cord development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of oligodendrocyte differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of oligodendrocyte differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in podocyte cell migration IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of canonical Wnt signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of canonical Wnt signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of cell migration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of actin cytoskeleton organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of actin filament polymerization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of canonical Wnt signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of filopodium assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of non-canonical Wnt signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of non-canonical Wnt signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular exosome HDA PubMed 

    General protein information

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    Preferred Names
    disheveled-associated activator of morphogenesis 2

    NCBI Reference Sequences (RefSeq)

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    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_001201427.2 → NP_001188356.1  disheveled-associated activator of morphogenesis 2 isoform 1

      See identical proteins and their annotated locations for NP_001188356.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) differs in the 5' UTR and uses an alternate in-frame splice site at the 5' end of a coding exon compared to isoform 1. The resulting variant (1) encodes the longer isoform.
      Source sequence(s)
      AB002379, AL161439, AW273797
      Consensus CDS
      CCDS56426.1
      UniProtKB/Swiss-Prot
      G5EA45, Q5T4T8, Q5T4U0, Q86T65, Q9NQI5, Q9Y4G0
      Related
      ENSP00000274867.4, ENST00000274867.9
      Conserved Domains (3) summary
      pfam02181
      Location:595 → 969
      FH2; Formin Homology 2 Domain
      pfam06367
      Location:231 → 435
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:43 → 228
      Drf_GBD; Diaphanous GTPase-binding Domain

    2. NM_015345.4 → NP_056160.2  disheveled-associated activator of morphogenesis 2 isoform 2

      See identical proteins and their annotated locations for NP_056160.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and uses an alternate in-frame splice site at the 5' end of a coding exon compared to isoform 1. The resulting isoform (2) has the same N- and C-termini but is 1 aa shorter compared to isoform 1.
      Source sequence(s)
      AB002379, AL161439, AL596701, AL833083, AW273797
      Consensus CDS
      CCDS54999.1
      UniProtKB/Swiss-Prot
      Q86T65
      Related
      ENSP00000437808.1, ENST00000538976.5
      Conserved Domains (3) summary
      pfam02181
      Location:595 → 968
      FH2; Formin Homology 2 Domain
      pfam06367
      Location:231 → 435
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:43 → 228
      Drf_GBD; Diaphanous GTPase-binding Domain

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      39792376..39904869
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047418533.1 → XP_047274489.1  disheveled-associated activator of morphogenesis 2 isoform X5

    2. XM_047418534.1 → XP_047274490.1  disheveled-associated activator of morphogenesis 2 isoform X6

    3. XM_047418537.1 → XP_047274493.1  disheveled-associated activator of morphogenesis 2 isoform X8

      UniProtKB/TrEMBL
      A0A0J9YYF7

    4. XM_006715043.3 → XP_006715106.1  disheveled-associated activator of morphogenesis 2 isoform X8

      See identical proteins and their annotated locations for XP_006715106.1

      UniProtKB/TrEMBL
      A0A0J9YYF7
      Related
      ENSP00000488831.1, ENST00000633794.1
      Conserved Domains (3) summary
      pfam02181
      Location:595 → 978
      FH2; Formin Homology 2 Domain
      pfam06367
      Location:231 → 435
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:43 → 228
      Drf_GBD; Diaphanous GTPase-binding Domain

    5. XM_047418535.1 → XP_047274491.1  disheveled-associated activator of morphogenesis 2 isoform X8

      UniProtKB/TrEMBL
      A0A0J9YYF7

    6. XM_047418538.1 → XP_047274494.1  disheveled-associated activator of morphogenesis 2 isoform X8

      UniProtKB/TrEMBL
      A0A0J9YYF7

    7. XM_006715046.5 → XP_006715109.1  disheveled-associated activator of morphogenesis 2 isoform X8

      See identical proteins and their annotated locations for XP_006715109.1

      UniProtKB/TrEMBL
      A0A0J9YYF7
      Conserved Domains (3) summary
      pfam02181
      Location:595 → 978
      FH2; Formin Homology 2 Domain
      pfam06367
      Location:231 → 435
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:43 → 228
      Drf_GBD; Diaphanous GTPase-binding Domain

    8. XM_017010630.2 → XP_016866119.1  disheveled-associated activator of morphogenesis 2 isoform X7

    9. XM_047418531.1 → XP_047274487.1  disheveled-associated activator of morphogenesis 2 isoform X3

    10. XM_047418532.1 → XP_047274488.1  disheveled-associated activator of morphogenesis 2 isoform X4

    11. XM_047418541.1 → XP_047274497.1  disheveled-associated activator of morphogenesis 2 isoform X9

      UniProtKB/Swiss-Prot
      G5EA45, Q5T4T8, Q5T4U0, Q86T65, Q9NQI5, Q9Y4G0

    12. XM_047418536.1 → XP_047274492.1  disheveled-associated activator of morphogenesis 2 isoform X8

      UniProtKB/TrEMBL
      A0A0J9YYF7

    13. XM_006715039.4 → XP_006715102.3  disheveled-associated activator of morphogenesis 2 isoform X1

    14. XM_006715040.4 → XP_006715103.3  disheveled-associated activator of morphogenesis 2 isoform X2

    15. XM_006715045.4 → XP_006715108.1  disheveled-associated activator of morphogenesis 2 isoform X8

      See identical proteins and their annotated locations for XP_006715108.1

      UniProtKB/TrEMBL
      A0A0J9YYF7
      Conserved Domains (3) summary
      pfam02181
      Location:595 → 978
      FH2; Formin Homology 2 Domain
      pfam06367
      Location:231 → 435
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:43 → 228
      Drf_GBD; Diaphanous GTPase-binding Domain

    16. XM_047418539.1 → XP_047274495.1  disheveled-associated activator of morphogenesis 2 isoform X8

      UniProtKB/TrEMBL
      A0A0J9YYF7

    17. XM_047418540.1 → XP_047274496.1  disheveled-associated activator of morphogenesis 2 isoform X8

      UniProtKB/TrEMBL
      A0A0J9YYF7

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      39616906..39731294
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054354959.1 → XP_054210934.1  disheveled-associated activator of morphogenesis 2 isoform X8

      UniProtKB/TrEMBL
      A0A0J9YYF7

    2. XM_054354954.1 → XP_054210929.1  disheveled-associated activator of morphogenesis 2 isoform X8

      UniProtKB/TrEMBL
      A0A0J9YYF7

    3. XM_054354952.1 → XP_054210927.1  disheveled-associated activator of morphogenesis 2 isoform X6

    4. XM_054354951.1 → XP_054210926.1  disheveled-associated activator of morphogenesis 2 isoform X5

    5. XM_054354957.1 → XP_054210932.1  disheveled-associated activator of morphogenesis 2 isoform X8

      UniProtKB/TrEMBL
      A0A0J9YYF7

    6. XM_054354953.1 → XP_054210928.1  disheveled-associated activator of morphogenesis 2 isoform X7

    7. XM_054354949.1 → XP_054210924.1  disheveled-associated activator of morphogenesis 2 isoform X3

    8. XM_054354950.1 → XP_054210925.1  disheveled-associated activator of morphogenesis 2 isoform X4

    9. XM_054354955.1 → XP_054210930.1  disheveled-associated activator of morphogenesis 2 isoform X8

      UniProtKB/TrEMBL
      A0A0J9YYF7

    10. XM_054354960.1 → XP_054210935.1  disheveled-associated activator of morphogenesis 2 isoform X9

      UniProtKB/Swiss-Prot
      G5EA45, Q5T4T8, Q5T4U0, Q86T65, Q9NQI5, Q9Y4G0

    11. XM_054354958.1 → XP_054210933.1  disheveled-associated activator of morphogenesis 2 isoform X8

      UniProtKB/TrEMBL
      A0A0J9YYF7

    12. XM_054354947.1 → XP_054210922.1  disheveled-associated activator of morphogenesis 2 isoform X1

    13. XM_054354948.1 → XP_054210923.1  disheveled-associated activator of morphogenesis 2 isoform X2

    14. XM_054354956.1 → XP_054210931.1  disheveled-associated activator of morphogenesis 2 isoform X8

      UniProtKB/TrEMBL
      A0A0J9YYF7
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86T65.3 GenPept UniProtKB/Swiss-Prot:Q86T65

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