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Aliases for ISPD Gene

Aliases for ISPD Gene

  • Isoprenoid Synthase Domain Containing 2 3
  • 2-C-Methyl-D-Erythritol 4-Phosphate Cytidylyltransferase-Like Protein 3 4
  • Notch1-Induced Protein 2 3
  • 4-Diphosphocytidyl-2C-Methyl-D-Erythritol Synthase Homolog (Arabidopsis) 2
  • 4-Diphosphocytidyl-2C-Methyl-D-Erythritol Synthase Homolog 3
  • HCG_1745121 3
  • EC 2.7.7.- 4
  • MDDGA7 3
  • MDDGC7 3
  • NIP 3

External Ids for ISPD Gene

Previous GeneCards Identifiers for ISPD Gene

  • GC07M016098

Summaries for ISPD Gene

Entrez Gene Summary for ISPD Gene

  • This gene encodes a 2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein. Mutations in this gene are the cause of Walker-Warburg syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2012]

GeneCards Summary for ISPD Gene

ISPD (Isoprenoid Synthase Domain Containing) is a Protein Coding gene. Diseases associated with ISPD include autosomal recessive limb-girdle muscular dystrophy due to ispd deficiency and ispd-related muscle diseases. GO annotations related to this gene include nucleotidyltransferase activity and 2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase activity.

UniProtKB/Swiss-Prot for ISPD Gene

  • Required for protein O-linked mannosylation. Probably acts as a nucleotidyltransferase involved in synthesis of a nucleotide sugar. Required for dystroglycan O-mannosylation.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ISPD Gene

Genomics for ISPD Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for ISPD Gene

15,916,851 bp from pter
16,530,558 bp from pter
613,708 bases
Minus strand

Genomic View for ISPD Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ISPD Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ISPD Gene

No data available for Regulatory Elements for ISPD Gene

Proteins for ISPD Gene

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

    Protein Symbol:
    Recommended name:
    Isoprenoid synthase domain-containing protein
    Protein Accession:
    Secondary Accessions:
    • A8MU35
    • H9KVB2

    Protein attributes for ISPD Gene

    451 amino acids
    Molecular mass:
    49873 Da
    Quaternary structure:
    No Data Available
    • Sequence=EAL24288.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ISPD Gene

    Alternative splice isoforms for ISPD Gene


neXtProt entry for ISPD Gene

Proteomics data for ISPD Gene at MOPED

Post-translational modifications for ISPD Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ISPD Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ISPD Gene

Domains & Families for ISPD Gene

Protein Domains for ISPD Gene

Suggested Antigen Peptide Sequences for ISPD Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the IspD family.
  • Belongs to the IspD family.
genes like me logo Genes that share domains with ISPD: view

No data available for Gene Families for ISPD Gene

Function for ISPD Gene

Molecular function for ISPD Gene

UniProtKB/Swiss-Prot Function:
Required for protein O-linked mannosylation. Probably acts as a nucleotidyltransferase involved in synthesis of a nucleotide sugar. Required for dystroglycan O-mannosylation.

Enzyme Numbers (IUBMB) for ISPD Gene

Gene Ontology (GO) - Molecular Function for ISPD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity --
GO:0050518 2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase activity IEA --
genes like me logo Genes that share ontologies with ISPD: view
genes like me logo Genes that share phenotypes with ISPD: view

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for ISPD Gene

Localization for ISPD Gene

Subcellular locations from

Jensen Localization Image for ISPD Gene COMPARTMENTS Subcellular localization image for ISPD gene
Compartment Confidence
chloroplast 1
plasma membrane 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for ISPD Gene

Pathways & Interactions for ISPD Gene

SuperPathways for ISPD Gene

No Data Available

UniProtKB/Swiss-Prot A4D126-ISPD_HUMAN

  • Pathway: Protein modification; protein glycosylation

Interacting Proteins for ISPD Gene

Gene Ontology (GO) - Biological Process for ISPD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006486 protein glycosylation --
GO:0007411 axon guidance IEA --
GO:0008299 isoprenoid biosynthetic process IEA --
GO:0035269 protein O-linked mannosylation IMP 22522420
genes like me logo Genes that share ontologies with ISPD: view

No data available for Pathways by source and SIGNOR curated interactions for ISPD Gene

Drugs & Compounds for ISPD Gene

No Compound Related Data Available

Transcripts for ISPD Gene

mRNA/cDNA for ISPD Gene

(18) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ISPD Gene

Isoprenoid synthase domain containing:
Representative Sequences:

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

No ASD Table

Relevant External Links for ISPD Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ISPD Gene

mRNA expression in normal human tissues for ISPD Gene

Protein differential expression in normal tissues from HIPED for ISPD Gene

This gene is overexpressed in Placenta (20.4), Fetal Brain (14.5), and Stomach (10.7).

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

SOURCE GeneReport for Unigene cluster for ISPD Gene Hs.636502

mRNA Expression by UniProt/SwissProt for ISPD Gene

Tissue specificity: Ubiquitously expressed, with high expression in brain.
genes like me logo Genes that share expression patterns with ISPD: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners for ISPD Gene

Orthologs for ISPD Gene

This gene was present in the common ancestor of chordates.

Orthologs for ISPD Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ISPD 36
  • 99 (a)
  • 99.56 (n)
  • 99.33 (a)
(Ornithorhynchus anatinus)
Mammalia ISPD 36
  • 76 (a)
(Mus musculus)
Mammalia Ispd 36
  • 75 (a)
Ispd 16
Ispd 35
  • 78.45 (n)
  • 74.72 (a)
(Monodelphis domestica)
Mammalia ISPD 36
  • 67 (a)
(Canis familiaris)
Mammalia ISPD 36
  • 81 (a)
  • 87.66 (n)
  • 84.38 (a)
(Bos Taurus)
Mammalia ISPD 36
  • 74 (a)
  • 86.82 (n)
  • 82.02 (a)
(Rattus norvegicus)
Mammalia Ispd 35
  • 77.93 (n)
  • 73.15 (a)
(Gallus gallus)
Aves ISPD 36
  • 56 (a)
  • 68.92 (n)
  • 61.35 (a)
(Anolis carolinensis)
Reptilia ISPD 36
  • 51 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ispd 35
  • 65.12 (n)
  • 60.38 (a)
(Danio rerio)
Actinopterygii ispd 36
  • 46 (a)
ispd 35
  • 55.63 (n)
  • 49.76 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 43 (a)
Species with no ortholog for ISPD:
  • 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 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 ISPD Gene

Gene Tree for ISPD (if available)
Gene Tree for ISPD (if available)

Paralogs for ISPD Gene Pseudogenes for ISPD Gene

genes like me logo Genes that share paralogs with ISPD: view

No data available for Paralogs for ISPD Gene

Variants for ISPD Gene

Sequence variations from dbSNP and Humsavar for ISPD Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs307156 -- 16,380,720(+) ttggg(A/G)gagtg intron-variant
rs307157 -- 16,380,802(+) tctga(C/T)ggtag intron-variant
rs307158 -- 16,381,041(+) ttgaa(C/T)gtgtt intron-variant
rs725706 -- 16,117,346(+) ACGTA(G/T)TCATA intron-variant
rs740823 -- 16,062,778(-) GCAAT(A/G)ATATC intron-variant

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

Variant ID Type Subtype PubMed ID
esv2734048 CNV Deletion 23290073
nsv511373 CNV Loss 21212237
nsv820033 CNV Loss 19587683
nsv511950 CNV Loss 21212237
esv5024 CNV Deletion 18987735
esv2734049 CNV Deletion 23290073
nsv366243 CNV Loss 16902084
esv9042 CNV Loss 19470904
nsv821416 CNV Deletion 20802225
dgv1092n67 CNV Loss 20364138
esv24769 CNV Gain+Loss 19812545
dgv7214n71 CNV Loss 21882294
essv6089 CNV CNV 17122850
dgv2064e1 CNV Complex 17122850
esv2662783 CNV Deletion 23128226
esv2734050 CNV Deletion 23290073
esv2659119 CNV Deletion 23128226
esv34298 CNV Loss 17911159
nsv887742 CNV Loss 21882294
nsv470133 CNV Loss 18288195
esv2734052 CNV Deletion 23290073
nsv887743 CNV Loss 21882294
esv2734053 CNV Deletion 23290073
esv273269 CNV Insertion 20981092
dgv2065e1 CNV Complex 17122850
essv6861 CNV CNV 17122850
dgv7215n71 CNV Loss 21882294
nsv8061 CNV Loss 18304495
nsv442031 CNV CNV 18776908
dgv1185e199 CNV Deletion 23128226
esv2734054 CNV Deletion 23290073
nsv818488 CNV Loss 17921354
nsv523384 CNV Loss 19592680
dgv224e55 CNV Loss 17911159
nsv514407 CNV Loss 21397061
nsv508447 CNV Loss 20534489
nsv464393 CNV Loss 19166990
nsv464396 CNV Loss 19166990
nsv5645 CNV Insertion 18451855
esv2734055 CNV Deletion 23290073
nsv523408 CNV Loss 19592680
nsv517363 CNV Loss 19592680
esv2658278 CNV Deletion 23128226
esv2661402 CNV Deletion 23128226

Variation tolerance for ISPD Gene

Gene Damage Index Score: 6.74; 78.80% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ISPD Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

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

Disorders for ISPD Gene

MalaCards: The human disease database

(11) MalaCards diseases for ISPD Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
autosomal recessive limb-girdle muscular dystrophy due to ispd deficiency
  • autosomal recessive limb-girdle muscular dystrophy type 2u
ispd-related muscle diseases
  • mddga7
muscular dystrophy-dystroglycanopathy , type a, 7
  • muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies a7
muscular dystrophy-dystroglycanopathy , type c, 7
  • muscular dystrophy-dystroglycanopathy limb-girdle c7
congenital muscular dystrophy without intellectual disability
  • cmd without intellectual disability
- elite association
Search ISPD in MalaCards View complete list of genes associated with diseases


  • Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A7 (MDDGA7) [MIM:614643]: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. {ECO:0000269 PubMed:22522420, ECO:0000269 PubMed:22522421, ECO:0000269 PubMed:23217329}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Muscular dystrophy-dystroglycanopathy limb-girdle C7 (MDDGC7) [MIM:616052]: A form of muscular dystrophy resulting from defective glycosylation of alpha-dystroglycan, and characterized by a limb-girdle phenotype with muscular weakness apparent after ambulation is achieved. MDDGC7 individuals do not show epilepsy, mental retardation, structural eye/brain abnormalities, or white matter changes. {ECO:0000269 PubMed:23390185}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ISPD

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with ISPD: view

No data available for Genatlas for ISPD Gene

Publications for ISPD Gene

  1. The sequence of the human genome. (PMID: 11181995) Venter J.C. … Zhu X. (Science 2001) 2 67
  2. A novel homozygous ISPD gene mutation causing phenotype variability in a consanguineous family. (PMID: 25444434) Baranello G. … Mora M. (Neuromuscul. Disord. 2015) 67
  3. Limb-girdle muscular dystrophy with I+-dystroglycan deficiency and mutations in the ISPD gene. (PMID: 23390185) Tasca G. … Ricci E. (Neurology 2013) 67
  4. Impact of four loci on serum tamsulosin hydrochloride concentration. (PMID: 23151678) Takata R. … Nakamura Y. (J. Hum. Genet. 2013) 67
  5. ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies. (PMID: 23288328) Cirak S. … Muntoni F. (Brain 2013) 67

Products for ISPD Gene

Sources for ISPD Gene

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