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

    Gene ID: 23500, updated on 12-Jun-2021

    Summary

    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
    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
    Expression
    Broad expression in brain (RPKM 23.5), esophagus (RPKM 10.9) and 20 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See DAAM2 in Genome Data Viewer
    Location:
    6p21.2
    Exon count:
    31
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (39792366..39904870)
    105.20201022 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 E2F transcription factor 4 pseudogene 1 Neighboring gene RNA, U1 small nuclear 54, pseudogene 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Genome-wide association analyses identify variants in developmental genes associated with hypospadias.
    GeneReviews: Not available
    Genome-wide association study identifies five loci associated with lung function.
    GeneReviews: Not available
    Nephrotic syndrome, type 24
    MedGen: CN296327 OMIM: 619263 GeneReviews: Not available
    not available

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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 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
    PubMed 
    involved_in negative regulation of oligodendrocyte differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of canonical Wnt signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in positive regulation of canonical Wnt signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of canonical Wnt signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of non-canonical Wnt signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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

    Preferred Names
    disheveled-associated activator of morphogenesis 2

    NCBI Reference Sequences (RefSeq)

    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_001201427.2NP_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
      Q86T65
      Related
      ENSP00000274867.4, ENST00000274867.9
      Conserved Domains (3) summary
      pfam02181
      Location:595969
      FH2; Formin Homology 2 Domain
      pfam06367
      Location:231435
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:43228
      Drf_GBD; Diaphanous GTPase-binding Domain
    2. NM_015345.4NP_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:595968
      FH2; Formin Homology 2 Domain
      pfam06367
      Location:231435
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:43228
      Drf_GBD; Diaphanous GTPase-binding Domain

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

      Range
      39792366..39904870
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006715043.2XP_006715106.1  disheveled-associated activator of morphogenesis 2 isoform X4

      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:595978
      FH2; Formin Homology 2 Domain
      pfam06367
      Location:231435
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:43228
      Drf_GBD; Diaphanous GTPase-binding Domain
    2. XM_006715046.4XP_006715109.1  disheveled-associated activator of morphogenesis 2 isoform X4

      See identical proteins and their annotated locations for XP_006715109.1

      UniProtKB/TrEMBL
      A0A0J9YYF7
      Conserved Domains (3) summary
      pfam02181
      Location:595978
      FH2; Formin Homology 2 Domain
      pfam06367
      Location:231435
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:43228
      Drf_GBD; Diaphanous GTPase-binding Domain
    3. XM_017010630.1XP_016866119.1  disheveled-associated activator of morphogenesis 2 isoform X3

    4. XM_006715042.2XP_006715105.1  disheveled-associated activator of morphogenesis 2 isoform X4

      See identical proteins and their annotated locations for XP_006715105.1

      UniProtKB/TrEMBL
      A0A0J9YYF7
      Conserved Domains (3) summary
      pfam02181
      Location:595978
      FH2; Formin Homology 2 Domain
      pfam06367
      Location:231435
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:43228
      Drf_GBD; Diaphanous GTPase-binding Domain
    5. XM_006715039.3XP_006715102.3  disheveled-associated activator of morphogenesis 2 isoform X1

    6. XM_006715040.3XP_006715103.3  disheveled-associated activator of morphogenesis 2 isoform X2

    7. XM_006715045.3XP_006715108.1  disheveled-associated activator of morphogenesis 2 isoform X4

      See identical proteins and their annotated locations for XP_006715108.1

      UniProtKB/TrEMBL
      A0A0J9YYF7
      Conserved Domains (3) summary
      pfam02181
      Location:595978
      FH2; Formin Homology 2 Domain
      pfam06367
      Location:231435
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:43228
      Drf_GBD; Diaphanous GTPase-binding Domain
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