Aliases for MFSD2A Gene
Aliases for MFSD2A Gene
External Ids for MFSD2A Gene
- HGNC: 25897
- Entrez Gene: 84879
- Ensembl: ENSG00000168389
- OMIM: 614397
- UniProtKB: Q8NA29
Previous HGNC Symbols for MFSD2A Gene
- MFSD2
Previous GeneCards Identifiers for MFSD2A Gene
- GC01P040194
- GC01P040421
- GC01P038539
Summaries for MFSD2A Gene
-
The protein encoded by this gene is a transmembrane protein and sodium-dependent lysophosphatidylcholine transporter. The encoded protein is involved in the establishment of the blood-brain barrier and is required for brain growth and function. Defects in this gene are a cause of a progressive microcephaly syndrome. [provided by RefSeq, Mar 2017]
GeneCards Summary for MFSD2A Gene
MFSD2A (Major Facilitator Superfamily Domain Containing 2A) is a Protein Coding gene. Diseases associated with MFSD2A include Microcephaly 15, Primary, Autosomal Recessive and Microcephaly. Among its related pathways are Metabolism and Glycerophospholipid biosynthesis. Gene Ontology (GO) annotations related to this gene include symporter activity and phospholipid transporter activity. An important paralog of this gene is MFSD2B.
UniProtKB/Swiss-Prot for MFSD2A Gene
-
Sodium-dependent lysophosphatidylcholine (LPC) symporter, which plays an essential role for blood-brain barrier formation and function (By similarity). Specifically expressed in endothelium of the blood-brain barrier of micro-vessels and transports LPC into the brain (By similarity). Transport of LPC is essential because it constitutes the major mechanism by which docosahexaenoic acid (DHA), an omega-3 fatty acid that is essential for normal brain growth and cognitive function, enters the brain (PubMed:26005868). Transports LPC carrying long-chain fatty acids such LPC oleate and LPC palmitate with a minimum acyl chain length of 14 carbons (By similarity). Does not transport docosahexaenoic acid in unesterified fatty acid (By similarity). Specifically required for blood-brain barrier formation and function, probably by mediating lipid transport (By similarity). Not required for central nervous system vascular morphogenesis (By similarity). Acts as a transporter for tunicamycin, an inhibitor of asparagine-linked glycosylation (PubMed:21677192). In placenta, acts as a receptor for ERVFRD-1/syncytin-2 and is required for trophoblast fusion (PubMed:18988732, PubMed:23177091).
Additional gene information for MFSD2A Gene
- Monarch Initiative
- Search for MFSD2A at DataMed
- Search for MFSD2A at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MFSD2A Gene
Genomics for MFSD2A Gene
GeneHancer (GH) Regulatory Elements for MFSD2A Gene
Promoters and enhancers for MFSD2A Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around MFSD2A on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for MFSD2A Gene
Genomic Locations for MFSD2A Gene
- chr1:39,955,112-39,969,968
- (GRCh38/hg38)
- Size:
- 14,857 bases
- Orientation:
- Plus strand
- chr1:40,420,784-40,435,638
- (GRCh37/hg19)
- Size:
- 14,855 bases
- Orientation:
- Plus strand
Genomic View for MFSD2A Gene
Genes around MFSD2A on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1p34.2 by Entrez Gene
- 1p34.2 by HGNC
- 1p34.2 by Ensembl
MFSD2A Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for MFSD2A Gene
Proteins for MFSD2A Gene
-
Protein details for MFSD2A Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q8NA29-NLS1_HUMAN
- Recommended name:
- Sodium-dependent lysophosphatidylcholine symporter 1
- Protein Accession:
- Q8NA29
- A8K675
- Q6UWU5
- Q96F59
- Q9BRC8
Protein attributes for MFSD2A Gene
- Size:
- 543 amino acids
- Molecular mass:
- 60170 Da
- Quaternary structure:
-
- Interacts with ERVFRD-1/syncytin-2.
Protein Expression for MFSD2A Gene
Post-translational modifications for MFSD2A Gene
- N-glycosylated.
- Glycosylation at posLast=240240 and posLast=230230
- Modification sites at PhosphoSitePlus
Other Protein References for MFSD2A Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for MFSD2A
- Novus Biologicals Antibodies for MFSD2A
-
Abcam antibodies for MFSD2A
- Invitrogen Antibodies for MFSD2A (AFLGC-MFSD2A)
- GeneTex MFSD2A Antibody for MFSD2A
Protein Products
-
OriGene Purified Proteins for MFSD2A
- Search Origene for MassSpec and Protein Over-expression Lysates for MFSD2A
- Origene Custom Protein Services for MFSD2A
- antibodies-online: Search results for 3 available MFSD2A Proteins ranked by validation data
- Compare Top MFSD2A Proteins
-
Quality Products:
- Search GeneTex for Proteins for MFSD2A
-
Abcam proteins for MFSD2A
Assay Products
- antibodies-online: Search results for 6 available MFSD2A Elisa Kits ranked by validation data
- Compare Top MFSD2A Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for MFSD2A Gene
Domains & Families for MFSD2A Gene
Gene Families for MFSD2A Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Potential drug targets
- Predicted membrane proteins
- Transporters
Protein Domains for MFSD2A Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for MFSD2A Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q8NA29- Family:
-
- Belongs to the major facilitator superfamily.
Function for MFSD2A Gene
Molecular function for MFSD2A Gene
- UniProtKB/Swiss-Prot Function:
- Sodium-dependent lysophosphatidylcholine (LPC) symporter, which plays an essential role for blood-brain barrier formation and function (By similarity). Specifically expressed in endothelium of the blood-brain barrier of micro-vessels and transports LPC into the brain (By similarity). Transport of LPC is essential because it constitutes the major mechanism by which docosahexaenoic acid (DHA), an omega-3 fatty acid that is essential for normal brain growth and cognitive function, enters the brain (PubMed:26005868). Transports LPC carrying long-chain fatty acids such LPC oleate and LPC palmitate with a minimum acyl chain length of 14 carbons (By similarity). Does not transport docosahexaenoic acid in unesterified fatty acid (By similarity). Specifically required for blood-brain barrier formation and function, probably by mediating lipid transport (By similarity). Not required for central nervous system vascular morphogenesis (By similarity). Acts as a transporter for tunicamycin, an inhibitor of asparagine-linked glycosylation (PubMed:21677192). In placenta, acts as a receptor for ERVFRD-1/syncytin-2 and is required for trophoblast fusion (PubMed:18988732, PubMed:23177091).
Phenotypes From GWAS Catalog for MFSD2A Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005548 | phospholipid transporter activity | TAS | -- |
| GO:0015245 | fatty acid transmembrane transporter activity | ISS | 24828044 |
| GO:0015293 | symporter activity | ISS | -- |
| GO:0051978 | lysophospholipid transporter activity | IDA | 24828044 |
Phenotypes for MFSD2A Gene
- MGI mutant phenotypes for MFSD2A:
-
inferred from 4 alleles
- cardiovascular system phenotype
- pigmentation phenotype
- vision/eye phenotype
- homeostasis/metabolism phenotype
- nervous system phenotype
- behavior/neurological phenotype
- mortality/aging
- cellular phenotype
- liver/biliary system phenotype
- normal phenotype
- adipose tissue phenotype
- hematopoietic system phenotype
- immune system phenotype
- growth/size/body region phenotype
- GenomeRNAi human phenotypes for MFSD2A:
Animal Models for MFSD2A Gene
Animal Model Products
-
Taconic Biosciences Mouse Models for MFSD2A
- Cyagen custom Knockout/knockin (KOKI) mouse models for MFSD2A
-
CRISPR Products
-
OriGene CRISPR knockouts for MFSD2A
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MFSD2A
- genomics-online: gRNA clones - Search results for 117 available MFSD2A gene related products
- Overview of 117 available MFSD2A gene related products
- Applied Biological Materials CRISPR for MFSD2A
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for MFSD2A
- GenScript: Design CRISPR guide RNA sequences for MFSD2A
miRNA for MFSD2A Gene
- miRTarBase miRNAs that target MFSD2A
-
- hsa-mir-7703 (MIRT667416)
- hsa-mir-4252 (MIRT667417)
- hsa-mir-5186 (MIRT667418)
- hsa-mir-4793-3p (MIRT667419)
- hsa-mir-1273g-3p (MIRT667420)
- hsa-mir-4691-3p (MIRT667421)
- hsa-mir-449b-3p (MIRT667422)
- hsa-mir-508-5p (MIRT667423)
- hsa-mir-5089-5p (MIRT673102)
- hsa-mir-5589-5p (MIRT673103)
- hsa-mir-4731-5p (MIRT673104)
- hsa-mir-6778-3p (MIRT673105)
- hsa-mir-6506-5p (MIRT673106)
- hsa-mir-4707-3p (MIRT673107)
- hsa-mir-619-5p (MIRT673108)
- hsa-mir-18a-3p (MIRT673109)
- hsa-mir-324-3p (MIRT673110)
- hsa-mir-1913 (MIRT673111)
- hsa-mir-150-5p (MIRT673112)
- hsa-mir-7107-5p (MIRT673113)
- hsa-mir-1234-3p (MIRT673114)
- hsa-mir-186-3p (MIRT673115)
- hsa-mir-3934-5p (MIRT673116)
- hsa-mir-764 (MIRT673117)
- hsa-mir-125a-3p (MIRT673118)
- hsa-mir-520h (MIRT673119)
- hsa-mir-520g-3p (MIRT673120)
- hsa-mir-512-3p (MIRT673121)
- hsa-mir-520e (MIRT673122)
- hsa-mir-520d-3p (MIRT673123)
- hsa-mir-520c-3p (MIRT673124)
- hsa-mir-520b (MIRT673125)
- hsa-mir-520a-3p (MIRT673126)
- hsa-mir-373-3p (MIRT673127)
- hsa-mir-372-3p (MIRT673128)
- hsa-mir-302e (MIRT673129)
- hsa-mir-302d-3p (MIRT673130)
- hsa-mir-302c-3p (MIRT673131)
- hsa-mir-302b-3p (MIRT673132)
- hsa-mir-302a-3p (MIRT673133)
- hsa-mir-93-5p (MIRT673134)
- hsa-mir-526b-3p (MIRT673135)
- hsa-mir-519d-3p (MIRT673136)
- hsa-mir-20b-5p (MIRT673137)
- hsa-mir-20a-5p (MIRT673138)
- hsa-mir-17-5p (MIRT673139)
- hsa-mir-106b-5p (MIRT673140)
- hsa-mir-106a-5p (MIRT673141)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MFSD2A
- Browse OriGene Inhibitory RNA Products For MFSD2A
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MFSD2A
- genomics-online: shRNA clones - Search results for 117 available MFSD2A gene related products
- Overview of 117 available MFSD2A gene related products
Clone Products
- Sino Biological Human cDNA Clone for MFSD2A
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MFSD2A
- Applied Biological Materials Clones for MFSD2A
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for MFSD2A
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for MFSD2A Gene
Localization for MFSD2A Gene
Subcellular locations from UniProtKB/Swiss-Prot for MFSD2A Gene
- Cell membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane; Multi-pass membrane protein. Note=Cytoplasmic punctae that may represent vesicles shuttling between the endoplasmic reticulum and the plasma membrane (PubMed:21677192). {ECO:0000269 PubMed:21677192}.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| endoplasmic reticulum | 3 |
| cytosol | 2 |
| peroxisome | 1 |
- Plasma membrane (3)
- Cytoplasmic bodies (2)
- Cytosol (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005783 | endoplasmic reticulum | IEA | -- |
| GO:0005789 | endoplasmic reticulum membrane | IEA | -- |
| GO:0005886 | plasma membrane | TAS | -- |
| GO:0005887 | integral component of plasma membrane | IEA,ISS | -- |
| GO:0016020 | membrane | IEA | -- |
Pathways & Interactions for MFSD2A Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Glycerophospholipid biosynthesis | ||
| 2 | Metabolism |
.37
|
|
| 3 | Synthesis of PC | ||
Pathways by source for MFSD2A Gene
5 Reactome pathways for MFSD2A Gene
Interacting Proteins for MFSD2A Gene
GPS-Prot Interaction Network for MFSD2A
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006656 | phosphatidylcholine biosynthetic process | TAS | -- |
| GO:0006869 | lipid transport | IEA | -- |
| GO:0015908 | fatty acid transport | ISS,IEA | -- |
| GO:0021766 | hippocampus development | ISS,IEA | 24828044 |
| GO:0045056 | transcytosis | ISS,IEA | -- |
No data available for SIGNOR curated interactions for MFSD2A Gene
Transcripts for MFSD2A Gene
mRNA/cDNA for MFSD2A Gene
- (7) REFSEQ mRNAs :
- (16) Additional mRNA sequences :
- (232) Selected AceView cDNA sequences:
- (10) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000372811 2154 bps (uc001ceu.5)
- ENST00000434861 946 bps (uc057fdl.1)
- ENST00000372809 2173 bps (uc001cev.5)
- ENST00000483824 1929 bps (uc009vvy.5)
- ENST00000469745 923 bps (uc057fdm.1)
Unigene Clusters for MFSD2A Gene
- Major facilitator superfamily domain containing 2A:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for MFSD2A
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MFSD2A
- genomics-online: gRNA clones - Search results for 117 available MFSD2A gene related products
- Overview of 117 available MFSD2A gene related products
- Applied Biological Materials CRISPR for MFSD2A
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for MFSD2A
- GenScript: Design CRISPR guide RNA sequences for MFSD2A
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MFSD2A
- Browse OriGene Inhibitory RNA Products For MFSD2A
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MFSD2A
- genomics-online: shRNA clones - Search results for 117 available MFSD2A gene related products
- Overview of 117 available MFSD2A gene related products
Clone Products
- Sino Biological Human cDNA Clone for MFSD2A
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MFSD2A
- Applied Biological Materials Clones for MFSD2A
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for MFSD2A Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Brain (Nervous System)
- Mature Endothelial Cells Blood Brain Barrier
- Endothelial Cells Blood Brain Barrier
- Adult Endothelial Cells Blood Brain Barrier
- Oligodendrocyte-like cells(Najm FJ et. al. 2011)
-
Endothelium (Cardiovascular System)
- Mature Endothelial Cells Blood Brain Barrier
- Endothelial Cells Blood Brain Barrier
- Adult Endothelial Cells Blood Brain Barrier
-
Ovary (Reproductive System)
- Pre-Granulosa Cells Primordial Follicle
- Granulosa Cells Primary Follicle
- Adipose (Muscoskeletal System)
-
Heart (Cardiovascular System)
- Atrioventricular Node Cells Atrioventricular Node
-
Placenta (Extraembryonic Tissues)
- Primordial Germ Cells Allantois
-
Gonad
- Primordial Germ Cells Allantois
- Spinal Cord (Nervous System)
- Glial Cells (Uncategorized)
mRNA differential expression in normal tissues according to GTEx for MFSD2A Gene
This gene is overexpressed in Liver (x13.0), Skin - Not Sun Exposed (Suprapubic) (x6.5), and Skin - Sun Exposed (Lower leg) (x4.6).
This gene is overexpressed in Placenta (52.2) and Liver (16.8).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MFSD2A Gene
NURSA nuclear receptor signaling pathways regulating expression of MFSD2A Gene:
MFSD2ASOURCE GeneReport for Unigene cluster for MFSD2A Gene:
Hs.655177mRNA Expression by UniProt/SwissProt for MFSD2A Gene:
Q8NA29-NLS1_HUMAN
Tissue specificity:
In placenta, associated with trophoblast cells.
Evidence on tissue expression from TISSUES for MFSD2A Gene
- Nervous system(4.8)
- Eye(4.1)
- Muscle(4.1)
- Lung(2.7)
- Liver(2.6)
Phenotype-based relationships between genes and organs from Gene ORGANizer for MFSD2A Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- integumentary
- nervous
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- cerebellum
- chin
- cranial nerve
- eye
- eyelid
- face
- forehead
- head
- jaw
- lip
- mandible
- maxilla
- mouth
- neck
- skull
Thorax:
- chest wall
- clavicle
- rib
- rib cage
- scapula
- sternum
Abdomen:
- kidney
Pelvis:
- pelvis
- ureter
Limb:
- ankle
- arm
- digit
- elbow
- femur
- fibula
- finger
- foot
- forearm
- hand
- hip
- humerus
- knee
- lower limb
- radius
- shin
- shoulder
- thigh
- tibia
- toe
- ulna
- upper limb
- wrist
General:
- peripheral nerve
- peripheral nervous system
- skin
- spinal column
- spinal cord
- vertebrae
Primer Products
-
OriGene qPCR primer pairs for MFSD2A
-
OriGene qPCR primer pairs and template standards for MFSD2A
- genomics-online: primer clones - Search results for 117 available MFSD2A gene related products
- Overview of 117 available MFSD2A gene related products
Gene Expression Assay Products
Orthologs for MFSD2A Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | MFSD2A 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | MFSD2A 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | MFSD2 34 |
|
OneToOne | |
| MFSD2A 33 |
|
||||
| rat (Rattus norvegicus) |
Mammalia | Mfsd2a 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Mfsd2a 16 34 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | MFSD2A 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | MFSD2A 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | MFSD2A 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | MFSD2A 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | mfsd2a 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | mfsd2ab 34 33 |
|
OneToMany | |
| mfsd2aa 34 |
|
OneToMany |
- Species where no ortholog for MFSD2A was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- 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)
- fruit fly (Drosophila melanogaster)
- 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)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- 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)
- worm (Caenorhabditis elegans)
Evolution for MFSD2A Gene
- ENSEMBL:
- Gene Tree for MFSD2A (if available)
- TreeFam:
- Gene Tree for MFSD2A (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for MFSD2A: view image
Paralogs for MFSD2A Gene
Variants for MFSD2A Gene
| SNP ID | Clin | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1057517688 | 15, primary, autosomal recessive (MCPH15) [MIM:616486], pathogenic, Primary autosomal recessive microcephaly 15 | 39,965,333(+) | C/T | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs1057517689 | 15, primary, autosomal recessive (MCPH15) [MIM:616486], pathogenic, Primary autosomal recessive microcephaly 15 | 39,965,490(+) | C/T | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs1057519087 | 15, primary, autosomal recessive (MCPH15) [MIM:616486], pathogenic, Primary autosomal recessive microcephaly 15 | 39,967,632(+) | C/T | coding_sequence_variant, intron_variant, missense_variant | |
| rs1060499570 | uncertain-significance, Primary autosomal recessive microcephaly 15 | 39,965,961(+) | G/A | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs368599958 | uncertain-significance, not specified | 39,965,291(+) | A/G | 5_prime_UTR_variant, coding_sequence_variant, missense_variant, non_coding_transcript_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2758933 | CNV | loss | 17122850 |
| nsv945896 | CNV | duplication | 23825009 |
Residual Variation Intolerance Score:
21.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.87;
35.03% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for MFSD2A Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MFSD2A Gene
Disorders for MFSD2A Gene
(2) MalaCards diseases for MFSD2A Gene - From: HGMD, OMIM, ClinVar, GTR, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| microcephaly 15, primary, autosomal recessive |
|
|
| microcephaly |
|
|
Search MFSD2A in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
NLS1_HUMAN- Microcephaly 15, primary, autosomal recessive (MCPH15) [MIM:616486]: A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. {ECO:0000269 PubMed:26005865, ECO:0000269 PubMed:26005868}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for MFSD2A
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for MFSD2A Gene
Publications for MFSD2A Gene
- Mfsd2a encodes a novel major facilitator superfamily domain-containing protein highly induced in brown adipose tissue during fasting and adaptive thermogenesis. (PMID: 18694395) Angers M … Jetten AM (The Biochemical journal 2008) 2 3 4 58
- Structural Insights into the Transport Mechanism of the Human Sodium-dependent Lysophosphatidylcholine Transporter MFSD2A. (PMID: 26945070) Quek DQ … Silver DL (The Journal of biological chemistry 2016) 2 3 58
- A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome. (PMID: 26005865) Alakbarzade V … Crosby AH (Nature genetics 2015) 3 4 58
- Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome. (PMID: 26005868) Guemez-Gamboa A … Gleeson JG (Nature genetics 2015) 3 4 58
- Mfsd2a is critical for the formation and function of the blood-brain barrier. (PMID: 24828040) Ben-Zvi A … Gu C (Nature 2014) 2 3 58
Products for MFSD2A Gene
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- Custom Antibody ServicesOriGene Antibodies for MFSD2A
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- OriGene Purified Proteins for MFSD2A
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- OriGene qPCR primer pairs for MFSD2A
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- OriGene CRISPR knockouts for MFSD2A
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- GenScript: Next-day shipping of latest version cDNA ORF clones for MFSD2A in any vector
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- Taconic Biosciences Mouse Models for MFSD2A
- Find your next knockout model in the Taconic Knockout Repository
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- Invitrogen Antibodies for MFSD2A (AFLGC-MFSD2A)
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- antibodies-online: Search results for 32 available MFSD2A Antibodies ranked by validation data
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- antibodies-online: Search results for 6 available MFSD2A Elisa Kits ranked by validation data
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- antibodies-online: Search results for 3 available MFSD2A Proteins ranked by validation data
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- GeneTex MFSD2A Antibody for MFSD2A
- Search GeneTex for Proteins for MFSD2A
- Horizon Cell Lines for MFSD2A
- genomics-online: cdna clones - Search results for 117 available MFSD2A gene related products
- Overview of 117 available MFSD2A gene related products
- orf clones - Search results for 117 available MFSD2A gene related products
- Overview of 117 available MFSD2A gene related products
- genomics-online: gRNA clones - Search results for 117 available MFSD2A gene related products
- Overview of 117 available MFSD2A gene related products
- genomics-online: primer clones - Search results for 117 available MFSD2A gene related products
- Overview of 117 available MFSD2A gene related products
- genomics-online: shRNA clones - Search results for 117 available MFSD2A gene related products
- Overview of 117 available MFSD2A gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MFSD2A
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- GeneCopoeia miRNA 3'UTR Target clone products for MFSD2A
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MFSD2A
Sources for MFSD2A Gene
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- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
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- (39) Pseudogene
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- (42) GenAtlas
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- (45) BGMUT
- (46) HuGE
- (47) Atlas
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- (49) GenBank
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- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
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- (63) Novus Biologicals
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- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
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