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

Gene ID: 158747, updated on 5-Mar-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
Involved in positive regulation of monocyte chemotaxis and positive regulation of neutrophil chemotaxis. Located in endoplasmic reticulum and endoplasmic reticulum-endosome membrane contact site. Is integral component of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in thyroid (RPKM 8.4), brain (RPKM 7.3) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
Xp22.2
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (14873421..14922327)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (14453939..14503195)
105.20220307 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
  • 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. 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
  2. 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
  3. 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
  4. Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study. Velez Edwards DR, et al. Hum Genet, 2013 Mar. PMID 23192594, Free PMC Article
  5. Identification of Novel Nuclear Factor of Activated T Cell (NFAT)-associated Proteins in T Cells. Gabriel CH, et al. J Biol Chem, 2016 Nov 11. PMID 27637333, Free PMC Article

See all (37) 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_2023_10

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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