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    MSANTD3 Myb/SANT DNA binding domain containing 3 [ Homo sapiens (human) ]

    Gene ID: 91283, updated on 17-Sep-2024

    Summary

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    Official Symbol
    MSANTD3provided by HGNC
    Official Full Name
    Myb/SANT DNA binding domain containing 3provided by HGNC
    Primary source
    HGNC:HGNC:23370
    See related
    Ensembl:ENSG00000066697 AllianceGenome:HGNC:23370
    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
    L8; C9orf30
    Expression
    Ubiquitous expression in gall bladder (RPKM 7.2), thyroid (RPKM 6.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MSANTD3 in Genome Data Viewer
    Location:
    9q31.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (100427143..100451734)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (112598812..112623397)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (103189425..103214016)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene inversin Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:103103415-103103914 Neighboring gene testis expressed 10 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28723 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:103114917-103115551 Neighboring gene uncharacterized LOC105376177 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:103131616-103131808 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:103155294-103155664 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20134 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20137 Neighboring gene MSANTD3-TMEFF1 readthrough Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20136 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20135 Neighboring gene Sharpr-MPRA regulatory region 7300 Neighboring gene uncharacterized LOC124902237 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20138 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20139 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20140 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:103254247-103254747 Neighboring gene transmembrane protein with EGF like and two follistatin like domains 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:103276664-103277164 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:103277165-103277665 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:103289773-103290326 Neighboring gene caveolae associated protein 4

    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. Recurrent rearrangements of the Myb/SANT-like DNA-binding domain containing 3 gene (MSANTD3) in salivary gland acinic cell carcinoma. Barasch N, et al. PLoS One, 2017. PMID 28212443, Free PMC Article
    2. The HTN3-MSANTD3 Fusion Gene Defines a Subset of Acinic Cell Carcinoma of the Salivary Gland. Andreasen S, et al. Am J Surg Pathol, 2019 Apr. PMID 30520817, Free PMC Article
    3. Suppression subtractive hybridization and expression profiling identifies a unique set of genes overexpressed in non-small-cell lung cancer. Petroziello J, et al. Oncogene, 2004 Oct 7. PMID 15334068
    4. Charting the molecular links between driver and susceptibility genes in colorectal cancer. Arroyo R, et al. Biochem Biophys Res Commun, 2014 Mar 21. PMID 24412244
    5. The palmitoyl acyltransferase HIP14 shares a high proportion of interactors with huntingtin: implications for a role in the pathogenesis of Huntington's disease. Butland SL, et al. Hum Mol Genet, 2014 Aug 1. PMID 24705354, Free PMC Article

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. we find the HTN3-MSANTD3 gene fusion to be a recurrent event in acinic cell carcinoma with prominent serous differentiation and an indolent clinical course
      Title: The HTN3-MSANTD3 Fusion Gene Defines a Subset of Acinic Cell Carcinoma of the Salivary Gland.
    2. MSANTD3 rearrangement as a recurrent event in salivary gland AcCC
      Title: Recurrent rearrangements of the Myb/SANT-like DNA-binding domain containing 3 gene (MSANTD3) in salivary gland acinic cell carcinoma.
    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ34973, MGC17337

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    myb/SANT-like DNA-binding domain-containing protein 3
    Names
    Myb/SANT-like DNA-binding domain containing 3
    UPF0439 protein C9orf30

    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_001198805.2 → NP_001185734.1  myb/SANT-like DNA-binding domain-containing protein 3 isoform a

      See identical proteins and their annotated locations for NP_001185734.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same isoform (a).
      Source sequence(s)
      AL353805, BI596498, BU620865, CN366267
      Consensus CDS
      CCDS6749.1
      UniProtKB/Swiss-Prot
      B2RC35, Q5T726, Q5T727, Q5T728, Q96H12
      Related
      ENSP00000480622.1, ENST00000622639.4
      Conserved Domains (1) summary
      pfam13873
      Location:10 → 87
      Myb_DNA-bind_5; Myb/SANT-like DNA-binding domain

    2. NM_001198806.2 → NP_001185735.1  myb/SANT-like DNA-binding domain-containing protein 3 isoform a

      See identical proteins and their annotated locations for NP_001185735.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same isoform (a).
      Source sequence(s)
      AL353805, BM914752, BU620865
      Consensus CDS
      CCDS6749.1
      UniProtKB/Swiss-Prot
      B2RC35, Q5T726, Q5T727, Q5T728, Q96H12
      Related
      ENSP00000480445.1, ENST00000613183.1
      Conserved Domains (1) summary
      pfam13873
      Location:10 → 87
      Myb_DNA-bind_5; Myb/SANT-like DNA-binding domain

    3. NM_001198807.2 → NP_001185736.1  myb/SANT-like DNA-binding domain-containing protein 3 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) includes an additional exon that causes a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (b) has a distinct and shorter C-terminus, compared to isoform a.
      Source sequence(s)
      AL353805, BI600290, BU620865, DR159535
      Consensus CDS
      CCDS56579.1
      UniProtKB/TrEMBL
      X6RL08
      Related
      ENSP00000364020.1, ENST00000374885.5
      Conserved Domains (1) summary
      pfam13873
      Location:10 → 87
      Myb_DNA-bind_5; Myb/SANT-like DNA-binding domain

    4. NM_080655.3 → NP_542386.1  myb/SANT-like DNA-binding domain-containing protein 3 isoform a

      See identical proteins and their annotated locations for NP_542386.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (a). Variants 1, 2 and 3 encode the same isoform (a).
      Source sequence(s)
      AL353805, BC008993, BU620865, DR159535
      Consensus CDS
      CCDS6749.1
      UniProtKB/Swiss-Prot
      B2RC35, Q5T726, Q5T727, Q5T728, Q96H12
      Related
      ENSP00000378506.2, ENST00000395067.7
      Conserved Domains (1) summary
      pfam13873
      Location:10 → 87
      Myb_DNA-bind_5; Myb/SANT-like DNA-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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      100427143..100451734
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      112598812..112623397
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96H12.1 GenPept UniProtKB/Swiss-Prot:Q96H12

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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