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

Gene ID: 23500, updated on 5-Mar-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. Predicted to be involved in nervous system development and regulation of Wnt signaling pathway. Predicted to act upstream of or within determination of left/right symmetry. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in brain (RPKM 23.5), esophagus (RPKM 10.9) and 20 other tissues See more
Orthologs
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Genomic context

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Location:
6p21.2
Exon count:
33
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (39792376..39904869)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (39616906..39731294)
105.20220307 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
  • 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. 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
  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. Correlation Between Daam2 Expression Changes and Demyelination in Guillain-Barre Syndrome. Cui Q, et al. Cell Mol Neurobiol, 2016 Jul. PMID 26293489
  5. DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation. Schneider R, et al. Am J Hum Genet, 2020 Dec 3. PMID 33232676, Free PMC Article

See all (27) 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_2023_10

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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