Aliases for MOSPD2 Gene

Aliases for MOSPD2 Gene

  • Motile Sperm Domain Containing 2 2 3 5
  • Motile Sperm Domain-Containing Protein 2 3 4
  • MGC26706 2
  • MOSPD2 5

External Ids for MOSPD2 Gene

Previous GeneCards Identifiers for MOSPD2 Gene

  • GC0XP014253
  • GC0XP014651
  • GC0XP014801
  • GC0XP012649

Summaries for MOSPD2 Gene

GeneCards Summary for MOSPD2 Gene

MOSPD2 (Motile Sperm Domain Containing 2) is a Protein Coding gene. Diseases associated with MOSPD2 include Fanconi Anemia, Complementation Group A. Among its related pathways are Innate Immune System. Gene Ontology (GO) annotations related to this gene include structural molecule activity.

UniProtKB/Swiss-Prot Summary for MOSPD2 Gene

  • Endoplasmic reticulum-anchored receptor which modulates interorganelle contacts by interacting with other organelle-bound proteins via their FFAT motif (PubMed:29858488). Might have a more important role in endoplasmic reticulum and endosomes contacts (PubMed:29858488). Promotes migration of primary monocytes and neutrophils, in response to various chemokines (PubMed:28137892).

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MOSPD2 Gene

Genomics for MOSPD2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MOSPD2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ014872 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 295.3 +0.2 180 4.4 CHD2 TBP SP1 FEZF1 CEBPA SMAD5 BRCA1 BHLHE40 ELF1 HOMEZ MOSPD2 FANCB HSALNG0136759 FJ601678-180 ASB9
GH0XJ014673 Enhancer 0.9 Ensembl ENCODE 27.7 -199.5 -199521 1 CEBPB MAX IRF4 EP300 RFX5 STAT3 JUND FOSL1 BATF ZFP37 MOSPD2 HSALNG0136751 piR-37972-711 GLRA2 FANCB
GH0XJ014851 Enhancer 0.4 Ensembl 51.3 -21.8 -21820 3.2 SPI1 RUNX3 EP300 MOSPD2 FANCB HSALNG0136756 NPM1P9 GLRA2
GH0XJ014932 Enhancer 0.3 Ensembl 45.8 +58.9 58880 0.6 ZNF652 MOSPD2 FJ601678-180 HSALNG0136759 HSALNG0136761 ASB9
GH0XJ014934 Enhancer 0.4 Ensembl 28.6 +61.2 61180 0.4 NR2C1 NR2C2 NR2F2 MOSPD2 FJ601678-180 HSALNG0136759 HSALNG0136761 ASB9
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MOSPD2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MOSPD2

Top Transcription factor binding sites by QIAGEN in the MOSPD2 gene promoter:
  • AML1a

Genomic Locations for MOSPD2 Gene

Latest Assembly
chrX:14,873,421-14,922,327
(GRCh38/hg38)
Size:
48,907 bases
Orientation:
Plus strand

Previous Assembly
chrX:14,891,543-14,940,449
(GRCh37/hg19 by Entrez Gene)
Size:
48,907 bases
Orientation:
Plus strand

chrX:14,891,563-14,940,449
(GRCh37/hg19 by Ensembl)
Size:
48,887 bases
Orientation:
Plus strand

Genomic View for MOSPD2 Gene

Genes around MOSPD2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MOSPD2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MOSPD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MOSPD2 Gene

Proteins for MOSPD2 Gene

  • Protein details for MOSPD2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NHP6-MSPD2_HUMAN
    Recommended name:
    Motile sperm domain-containing protein 2
    Protein Accession:
    Q8NHP6
    Secondary Accessions:
    • Q8N3H2
    • Q8NA83

    Protein attributes for MOSPD2 Gene

    Size:
    518 amino acids
    Molecular mass:
    59746 Da
    Quaternary structure:
    • Interacts (via MSP domain) with STARD3 (via FFAT motif), STARD3NL (via FFAT motif), RMDN3 (via FFAT motif), OSBPL1A (via FFAT motif) and CERT1 (via FFAT motif).

    Alternative splice isoforms for MOSPD2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MOSPD2 Gene

Post-translational modifications for MOSPD2 Gene

  • Ubiquitination at Lys127
  • Modification sites at PhosphoSitePlus

Other Protein References for MOSPD2 Gene

No data available for DME Specific Peptides for MOSPD2 Gene

Domains & Families for MOSPD2 Gene

Gene Families for MOSPD2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for MOSPD2 Gene

InterPro:
Blocks:
  • Cellular retinaldehyde-binding (CRAL)/Triple function domain (TRIO)
ProtoNet:

Suggested Antigen Peptide Sequences for MOSPD2 Gene

GenScript: Design optimal peptide antigens:
  • Motile sperm domain-containing protein 2 (MSPD2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8NHP6

UniProtKB/Swiss-Prot:

MSPD2_HUMAN :
  • The MSP domain is required for binding to the FFAT motif of target proteins.
Domain:
  • The MSP domain is required for binding to the FFAT motif of target proteins.
genes like me logo Genes that share domains with MOSPD2: view

Function for MOSPD2 Gene

Molecular function for MOSPD2 Gene

UniProtKB/Swiss-Prot Function:
Endoplasmic reticulum-anchored receptor which modulates interorganelle contacts by interacting with other organelle-bound proteins via their FFAT motif (PubMed:29858488). Might have a more important role in endoplasmic reticulum and endosomes contacts (PubMed:29858488). Promotes migration of primary monocytes and neutrophils, in response to various chemokines (PubMed:28137892).

Phenotypes From GWAS Catalog for MOSPD2 Gene

Gene Ontology (GO) - Molecular Function for MOSPD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 29858488
genes like me logo Genes that share ontologies with MOSPD2: view
genes like me logo Genes that share phenotypes with MOSPD2: view

miRNA for MOSPD2 Gene

miRTarBase miRNAs that target MOSPD2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MOSPD2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MOSPD2 Gene

Localization for MOSPD2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MOSPD2 Gene

Endoplasmic reticulum membrane. Single-pass type IV membrane protein. Note=Localization to contact sites involving the endoplasmic reticulum and several organelles is regulated by interaction with proteins containing FFAT motif. {ECO:0000269 PubMed:29858488}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MOSPD2 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 5
cytosol 2
cytoskeleton 1
mitochondrion 1
peroxisome 1
nucleus 1
endosome 1
lysosome 1
golgi apparatus 1
extracellular 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MOSPD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA,IDA 29858488
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IDA 28137892
GO:0016020 membrane IEA,HDA 19946888
genes like me logo Genes that share ontologies with MOSPD2: view

Pathways & Interactions for MOSPD2 Gene

PathCards logo

SuperPathways for MOSPD2 Gene

genes like me logo Genes that share pathways with MOSPD2: view

Pathways by source for MOSPD2 Gene

3 Reactome pathways for MOSPD2 Gene

Gene Ontology (GO) - Biological Process for MOSPD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006935 chemotaxis IEA --
GO:0043312 neutrophil degranulation TAS --
GO:0090023 positive regulation of neutrophil chemotaxis IDA 28137892
GO:0090026 positive regulation of monocyte chemotaxis IDA 28137892
genes like me logo Genes that share ontologies with MOSPD2: view

No data available for SIGNOR curated interactions for MOSPD2 Gene

Drugs & Compounds for MOSPD2 Gene

No Compound Related Data Available

Transcripts for MOSPD2 Gene

mRNA/cDNA for MOSPD2 Gene

3 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MOSPD2

Alternative Splicing Database (ASD) splice patterns (SP) for MOSPD2 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b
SP1: - - -
SP2: - -
SP3: - - - - - -
SP4: - -
SP5: -

Relevant External Links for MOSPD2 Gene

GeneLoc Exon Structure for
MOSPD2

Expression for MOSPD2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MOSPD2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MOSPD2 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x4.9) and Whole Blood (x4.1).

Protein differential expression in normal tissues from HIPED for MOSPD2 Gene

This gene is overexpressed in Bone (22.6) and Spinal cord (9.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MOSPD2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MOSPD2

SOURCE GeneReport for Unigene cluster for MOSPD2 Gene:

Hs.744919

mRNA Expression by UniProt/SwissProt for MOSPD2 Gene:

Q8NHP6-MSPD2_HUMAN
Tissue specificity: Highly expressed in CD14(+) monocytes, and at lower levels in neutrophils. Does not show significant expression in B-cells or T-cells.

Evidence on tissue expression from TISSUES for MOSPD2 Gene

  • Nervous system(4.6)
genes like me logo Genes that share expression patterns with MOSPD2: view

Primer products for research

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for MOSPD2 Gene

Orthologs for MOSPD2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for MOSPD2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MOSPD2 30 31
  • 99.55 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MOSPD2 30 31
  • 92.34 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MOSPD2 30 31
  • 89.68 (n)
OneToMany
-- 31
  • 79 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Mospd2 30 17 31
  • 86.94 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mospd2 30
  • 86.79 (n)
Oppossum
(Monodelphis domestica)
Mammalia MOSPD2 31
  • 72 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia MOSPD2 31
  • 72 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MOSPD2 30 31
  • 72.42 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MOSPD2 31
  • 68 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mospd2 30
  • 67.73 (n)
Str.3865 30
Zebrafish
(Danio rerio)
Actinopterygii mospd2 30 31
  • 61.37 (n)
OneToOne
wufc48a06 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9762 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG33523 30 31
  • 44.99 (n)
OneToMany
CG32407 31
  • 28 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005556 30
  • 44.57 (n)
Worm
(Caenorhabditis elegans)
Secernentea hpo-28 30 31
  • 46.03 (n)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CSR1 33
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 35 (a)
OneToMany
CSA.9460 31
  • 31 (a)
OneToMany
CSA.3857 31
  • 18 (a)
OneToMany
Species where no ortholog for MOSPD2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for MOSPD2 Gene

ENSEMBL:
Gene Tree for MOSPD2 (if available)
TreeFam:
Gene Tree for MOSPD2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MOSPD2: view image

Paralogs for MOSPD2 Gene

(1) SIMAP similar genes for MOSPD2 Gene using alignment to 4 proteins:

  • MSPD2_HUMAN
  • R4GMN1_HUMAN
  • R4GMW5_HUMAN
  • R4GNB6_HUMAN
genes like me logo Genes that share paralogs with MOSPD2: view

No data available for Paralogs for MOSPD2 Gene

Variants for MOSPD2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MOSPD2 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
rs141915581 Benign: not provided 14,912,260(+) C/T
NM_152581.4(MOSPD2):c.891C>T (p.Thr297=)
SYNONYMOUS
rs150855218 Benign: not provided 14,914,498(+) C/A
NM_152581.4(MOSPD2):c.993-5C>A
INTRON
rs35164803 - p.Ser240Asn

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MOSPD2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for MOSPD2 Gene

Variant ID Type Subtype PubMed ID
esv3372386 CNV insertion 20981092
nsv9934 CNV loss 18304495

Variation tolerance for MOSPD2 Gene

Residual Variation Intolerance Score: 28.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.20; 39.71% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MOSPD2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MOSPD2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MOSPD2 Gene

Disorders for MOSPD2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for MOSPD2 Gene - From: COP

Disorder Aliases PubMed IDs
fanconi anemia, complementation group a
  • fanca
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for MOSPD2

Genetic Association Database
(GAD)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with MOSPD2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MOSPD2 Gene

Publications for MOSPD2 Gene

  1. Identification of MOSPD2, a novel scaffold for endoplasmic reticulum membrane contact sites. (PMID: 29858488) Di Mattia T … Alpy F (EMBO reports 2018) 3 4
  2. Identification of Motile Sperm Domain-Containing Protein 2 as Regulator of Human Monocyte Migration. (PMID: 28137892) Mendel I … Breitbart E (Journal of immunology (Baltimore, Md. : 1950) 2017) 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. Quantitative Proteomics Links the LRRC59 Interactome to mRNA Translation on the ER Membrane. (PMID: 32788342) Hannigan MM … Nicchitta CV (Molecular & cellular proteomics : MCP 2020) 3

Products for MOSPD2 Gene

Sources for MOSPD2 Gene