Gene Gene information from NCBI Gene database.
Entrez ID 158747
Gene name Motile sperm domain containing 2
Gene symbol MOSPD2
Synonyms (NCBI Gene)
-
Chromosome X
Chromosome location Xp22.2
miRNA miRNA information provided by mirtarbase database.
233
miRTarBase ID miRNA Experiments Reference
MIRT001535 hsa-miR-155-5p pSILAC 18668040
MIRT001535 hsa-miR-155-5p Proteomics;Other 18668040
MIRT028398 hsa-miR-30a-5p Proteomics 18668040
MIRT031102 hsa-miR-19b-3p Sequencing 20371350
MIRT1155784 hsa-miR-1305 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 29858488, 32296183, 33124732, 33961781
GO:0005783 Component Endoplasmic reticulum IDA 29858488
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IDA 35389430
GO:0005789 Component Endoplasmic reticulum membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
301086 28381 ENSG00000130150
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8NHP6
Protein name Motile sperm domain-containing protein 2
Protein function Endoplasmic reticulum-anchored protein that mediates the formation of contact sites between the endoplasmic (ER) and endosomes, mitochondria or Golgi through interaction with conventional- and phosphorylated-FFAT-containing organelle-bound prote
PDB 6TQS , 6TQT , 6TQU
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00650 CRAL_TRIO 89 234 CRAL/TRIO domain Domain
PF00635 Motile_Sperm 327 432 MSP (Major sperm protein) domain Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in CD14(+) monocytes, and at lower levels in neutrophils. Does not show significant expression in B-cells or T-cells. {ECO:0000269|PubMed:28137892}.
Sequence
MAENHAQNKAKLISETRRRFEAEYVTDKSDKYDARDVERLQQDDNWVESYLSWRHNIVDE
TLKMLDESFQWRKEISVNDLNESSIPRWLLEIGVIYLHGYDKEGNKLFWIRVKYHVKDQK
TILDKKKLIAFWLERYAKRENGKPVTVMFDLSETGINSIDMDFVRFIINCFKVYYPKYLS
KIVIFDMPWLMNAAFKIVKTWLGPEAVSLLKFTSKNEVQDYVSVEYLPPHMGGT
DPFKYS
YPPLVDDDFQTPLCENGPITSEDETSSKEDIESDGKETLETISNEEQTPLLKKINPTEST
SKAEENEKVDSKVKAFKKPLSVFKGPLLHISPAEELYFGSTESGEKKTLIVLTNVTKNIV
AFKVRTTAPEKYRVKPSNSSCDPGASVDIVVSPHGGLTVSAQDRFLIMAAEMEQSSGTGP
AELTQFWKEVPR
NKVMEHRLRCHTVESSKPNTLTLKDNAFNMSDKTSEDICLQLSRLLES
NRKLEDQVQRCIWFQQLLLSLTMLLLAFVTSFFYLLYS
Sequence length 518
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Neutrophil degranulation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Clear cell carcinoma of kidney Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MALE INFERTILITY WITH AZOOSPERMIA OR OLIGOZOOSPERMIA DUE TO SINGLE GENE MUTATION Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Breast Carcinoma Breast Carcinoma BEFREE 29978511
★☆☆☆☆
Found in Text Mining only
Epilepsy Epilepsy Pubtator 34555062 Associate
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer BEFREE 29978511
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 29978511
★☆☆☆☆
Found in Text Mining only
Mammary Neoplasms Mammary Neoplasms BEFREE 29978511
★☆☆☆☆
Found in Text Mining only
Nasopharyngeal Carcinoma Nasopharyngeal carcinoma Pubtator 35907914 Associate
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 29978511
★☆☆☆☆
Found in Text Mining only