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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
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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

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