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    MOSPD2 motile sperm domain containing 2 [ Homo sapiens (human) ]

    Gene ID: 158747, updated on 28-Oct-2024

    Summary

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    Official Symbol
    MOSPD2provided by HGNC
    Official Full Name
    motile sperm domain containing 2provided by HGNC
    Primary source
    HGNC:HGNC:28381
    See related
    Ensembl:ENSG00000130150 MIM:301086; AllianceGenome:HGNC:28381
    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
    Summary
    Enables FFAT motif binding activity. Involved in lipid droplet formation; positive regulation of leukocyte chemotaxis; and protein homooligomerization. Located in endoplasmic reticulum membrane; endoplasmic reticulum-endosome membrane contact site; and plasma membrane. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 8.4), brain (RPKM 7.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MOSPD2 in Genome Data Viewer
    Location:
    Xp22.2
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (14873421..14922327)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (14453939..14503195)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (14891543..14940449)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene glycine receptor alpha 2 Neighboring gene uncharacterized LOC107985686 Neighboring gene NANOG hESC enhancer GRCh37_chrX:14584711-14585313 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chrX:14691306-14692505 Neighboring gene FA complementation group B Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20671 Neighboring gene nucleophosmin 1 pseudogene 9 Neighboring gene TPT1 pseudogene 14 Neighboring gene ribosomal protein L35a pseudogene 37

    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. MOSPD2 is an endoplasmic reticulum-lipid droplet tether functioning in LD homeostasis. Zouiouich M, et al. J Cell Biol, 2022 Jun 6. PMID 35389430, Free PMC Article
    2. Newly characterized motile sperm domain-containing protein 2 promotes human breast cancer metastasis. Salem Y, et al. Int J Cancer, 2019 Jan 1. PMID 29978511, Free PMC Article
    3. Identification of Motile Sperm Domain-Containing Protein 2 as Regulator of Human Monocyte Migration. Mendel I, et al. J Immunol, 2017 Mar 1. PMID 28137892, Free PMC Article
    4. Identification of MOSPD2, a novel scaffold for endoplasmic reticulum membrane contact sites. Di Mattia T, et al. EMBO Rep, 2018 Jul. PMID 29858488, Free PMC Article
    5. FFAT motif phosphorylation controls formation and lipid transfer function of inter-organelle contacts. Di Mattia T, et al. EMBO J, 2020 Dec 1. PMID 33124732, Free PMC Article

    See all (43) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Thus, we characterized here MOSPD2, a novel tethering component related to VAP proteins(VAP-A and VAP-B), bridging the endoplasmic reticulum with a variety of distinct organelles.
      Title: Identification of MOSPD2, a novel scaffold for endoplasmic reticulum membrane contact sites.
    2. Results indicate that motile sperm domain containing 2 (MOSPD2) plays a key role in the migration and metastasis of breast cancer cells and may be used to prevent the spreading of breast cancer cells and to mediate their death.
      Title: Newly characterized motile sperm domain-containing protein 2 promotes human breast cancer metastasis.
    3. this study shows that silencing MOSPD2 inhibited signaling events following chemokine receptor ligation and monocyte migration induced by chemokines
      Title: Identification of Motile Sperm Domain-Containing Protein 2 as Regulator of Human Monocyte Migration.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study.
    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC26706, DKFZp686C1553

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables FFAT motif binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in chemotaxis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in lipid droplet formation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of monocyte chemotaxis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of neutrophil chemotaxis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein homooligomerization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in endomembrane system IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in endoplasmic reticulum-endosome membrane contact site IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum-endosome membrane contact site IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane HDA PubMed 
    located_in organelle membrane contact site IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in specific granule membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    motile sperm domain-containing protein 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.

    Genomic

    1. NG_017159.2 RefSeqGene

      Range
      5017..53923
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001177475.2 → NP_001170946.1  motile sperm domain-containing protein 2 isoform 2

      See identical proteins and their annotated locations for NP_001170946.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AC121340, AI744083, AK093075, AL834345
      UniProtKB/Swiss-Prot
      Q8NHP6
      Conserved Domains (2) summary
      pfam00635
      Location:264 → 368
      Motile_Sperm; MSP (Major sperm protein) domain
      pfam00650
      Location:30 → 171
      CRAL_TRIO; CRAL/TRIO domain

    2. NM_001330241.2 → NP_001317170.1  motile sperm domain-containing protein 2 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate 3'-terminal exon compared to variant 1. The encoded isoform (3) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC121340, AC140846
      Consensus CDS
      CCDS83457.1
      UniProtKB/TrEMBL
      R4GMN1
      Related
      ENSP00000473271.1, ENST00000482354.5
      Conserved Domains (2) summary
      pfam00635
      Location:327 → 431
      Motile_Sperm; MSP (Major sperm protein) domain
      pfam00650
      Location:93 → 234
      CRAL_TRIO; CRAL/TRIO domain

    3. NM_152581.4 → NP_689794.1  motile sperm domain-containing protein 2 isoform 1

      See identical proteins and their annotated locations for NP_689794.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC121340, AI744083, BC030641, DA708010
      Consensus CDS
      CCDS14162.1
      UniProtKB/Swiss-Prot
      Q8N3H2, Q8NA83, Q8NHP6
      Related
      ENSP00000369860.3, ENST00000380492.8
      Conserved Domains (2) summary
      pfam00635
      Location:327 → 431
      Motile_Sperm; MSP (Major sperm protein) domain
      pfam00650
      Location:93 → 234
      CRAL_TRIO; CRAL/TRIO 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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      14873421..14922327
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      14453939..14503195
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NHP6.1 GenPept UniProtKB/Swiss-Prot:Q8NHP6

    Gene LinkOut

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

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