This biological region is found within the coding region of the Zic family member 2 (ZIC2) gene on the q arm of chromosome 13. This region contains an imperfect trinucleotide repeat that encodes a polyalanine tract. Expansions and contractions of the imperfect repeat have been documented, and are associated with holoprosencephaly (HPE). A recurrent expansion that results in an ... See more...

Aliases for LOC110008580 Gene

Aliases for LOC110008580 Gene

  • Zic Family Member 2 Polyalanine Repeat Instability Region 3
  • ZIC2 Polyalanine Repeat Instability Region 3

External Ids for LOC110008580 Gene

Summaries for LOC110008580 Gene

Entrez Gene Summary for LOC110008580 Gene

  • This biological region is found within the coding region of the Zic family member 2 (ZIC2) gene on the q arm of chromosome 13. This region contains an imperfect trinucleotide repeat that encodes a polyalanine tract. Expansions and contractions of the imperfect repeat have been documented, and are associated with holoprosencephaly (HPE). A recurrent expansion that results in an expansion from 15 consecutive alanines to 25 consecutive alanines, may alter the DNA binding activity of the ZIC2 gene product. It has been suggested that expansions may be the result of somatic recombination between mispaired alleles, since the fathers of some affected individuals are mosaic carriers of the alanine expansion. [provided by RefSeq, Apr 2017]

GeneCards Summary for LOC110008580 Gene

LOC110008580 (Zic Family Member 2 Polyalanine Repeat Instability Region) is a Biological Region gene. Diseases associated with LOC110008580 include Holoprosencephaly and Holoprosencephaly 5.

Additional gene information for LOC110008580 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LOC110008580 Gene

Genomics for LOC110008580 Gene

Genomic Locations for LOC110008580 Gene

Genomic Locations for LOC110008580 Gene
chr13:-
(GRCh38/hg38)
Orientation:
Unknown strand

Genomic View for LOC110008580 Gene


Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for LOC110008580 Gene

No data available for GeneHancer (GH) Regulatory Elements for LOC110008580 Gene

Proteins for LOC110008580 Gene

Post-translational modifications for LOC110008580 Gene

No Post-translational modifications

No data available for DME Specific Peptides for LOC110008580 Gene

Domains & Families for LOC110008580 Gene

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for LOC110008580 Gene

Function for LOC110008580 Gene

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for LOC110008580 Gene

Localization for LOC110008580 Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for LOC110008580 Gene

Pathways & Interactions for LOC110008580 Gene

PathCards logo

SuperPathways for LOC110008580 Gene

No Data Available
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Gene Ontology (GO) - Biological Process for LOC110008580 Gene

None

No data available for Pathways by source , Interacting Proteins and SIGNOR curated interactions for LOC110008580 Gene

Drugs & Compounds for LOC110008580 Gene

No Compound Related Data Available

Transcripts for LOC110008580 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for LOC110008580 Gene

No ASD Table

No data available for mRNA/cDNA for LOC110008580 Gene

Expression for LOC110008580 Gene

No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for LOC110008580 Gene

Orthologs for LOC110008580 Gene

No data available for Orthologs and Evolution for LOC110008580 Gene

Paralogs for LOC110008580 Gene

No data available for Paralogs for LOC110008580 Gene

Variants for LOC110008580 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LOC110008580 Gene

SNP ID Clinical significance and condition Chr 13 pos Variation AA Info Type
702623 Likely Benign: not provided 99,985,475( ) T/G SYNONYMOUS_VARIANT
728344 Likely Benign: not provided 99,985,481( ) G/T SYNONYMOUS_VARIANT
729872 Likely Benign: not provided 99,985,457( ) G/A SYNONYMOUS_VARIANT
rs756225250 Pathogenic: Holoprosencephaly 5 99,985,448( ) A/AGCGGCGGCGGCAG INFRAME_INSERTION
rs761822481 Uncertain Significance: not provided 99,985,460( ) AGCGGCGGCGGCGGCT INFRAME_DELETION

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Additional dbSNP identifiers (rs#s) , Structural Variations from Database of Genomic Variants (DGV) , Variation tolerance and Additional Variant Information for LOC110008580 Gene

Disorders for LOC110008580 Gene

MalaCards: The human disease database

(2) MalaCards diseases for LOC110008580 Gene - From: GeneCards

Disorder Aliases PubMed IDs
holoprosencephaly
  • holoprosencephaly sequence
holoprosencephaly 5
  • hpe5
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with LOC110008580: view

No data available for UniProtKB/Swiss-Prot , Genatlas and External Links for LOC110008580 Gene

Publications for LOC110008580 Gene

  1. Single amino acid and trinucleotide repeats: function and evolution. (PMID: 23560303) Faux N (Advances in experimental medicine and biology 2012) 3 54
  2. Polyalanine tract disorders and neurocognitive phenotypes. (PMID: 23560312) Shoubridge C … Gecz J (Advances in experimental medicine and biology 2012) 3 54
  3. Comparison of mutation findings in ZIC2 between microform and classical holoprosencephaly in a Brazilian cohort. (PMID: 22847929) Ribeiro LA … Muenke M (Birth defects research. Part A, Clinical and molecular teratology 2012) 3 54
  4. New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases. (PMID: 21940735) Mercier S … Odent S (Journal of medical genetics 2011) 3 54
  5. Molecular mechanisms underlying polyalanine diseases. (PMID: 19269323) Messaed C … Rouleau GA (Neurobiology of disease 2009) 3 54

No data available for Mastermind for LOC110008580 Gene

Products for LOC110008580 Gene

Sources for LOC110008580 Gene