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Aliases for LOC108004538 Gene

Aliases for LOC108004538 Gene

  • AZFa HERV15yq2 Recombination Region 3
  • Azoospermia Factor A Human Endogenous Retroviral Yq2 Recombination Region 3
  • AZFa Distal HERV15 Recombination Region 3

External Ids for LOC108004538 Gene

Summaries for LOC108004538 Gene

Entrez Gene Summary for LOC108004538 Gene

  • This region is known to undergo non-allelic homologous recombination (NAHR) with a similar low-copy repeat region, the AZFa HERV15yq1 (azoospermia factor a human endogenous retrovirus 15 yq1) recombination region, which is located about 790-800 kb centromere-proximal to this region. NAHR between the AZFa HERV15yq1 and AZFa HERV15yq2 recombination regions can result in duplications and deletions of the intervening sequences, including the DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked (DDX3Y) and ubiquitin specific peptidase 9, Y-linked (USP9Y, also known as DFFRY) genes. Recombination occurs within the human endogenous retrovirus 15 (HERV15) element. This region contains sub-regions that have been identified as NAHR exchange sites, ID1' (identical sequence 1') and ID2' (identical sequence 2'). It also contains two meiotic recombination hotspots that overlap the NAHR exchange sites. The HERV15 element found in this recombination region differs from that found in the AZFa HERV15yq2 recombination region in that it contains a LINE element within the HERV15 sequence block. The nearly 800 kb deletion that can occur as a result of NAHR between the HERV15yq1 and HERV15yq2 recombination regions has been observed in some individuals with AZFa, and is thought to cause a complete Sertoli-cell-only type 1 phenotype. [provided by RefSeq, Oct 2016]

GeneCards Summary for LOC108004538 Gene

LOC108004538 (AZFa HERV15yq2 Recombination Region) is a Biological Region gene. Diseases associated with LOC108004538 include Azoospermia.

Additional gene information for LOC108004538 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LOC108004538 Gene

Genomics for LOC108004538 Gene

Genomic Locations for LOC108004538 Gene

Genomic Locations for LOC108004538 Gene
chrY:-
(GRCh38/hg38)
Orientation:
Unknown strand

Genomic View for LOC108004538 Gene


Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for LOC108004538 Gene

No data available for GeneHancer (GH) Regulatory Elements for LOC108004538 Gene

Proteins for LOC108004538 Gene

Post-translational modifications for LOC108004538 Gene

No Post-translational modifications

No data available for DME Specific Peptides for LOC108004538 Gene

Domains & Families for LOC108004538 Gene

Graphical View of Domain Structure for InterPro Entry

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for LOC108004538 Gene

Function for LOC108004538 Gene

Animal Model Products

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 LOC108004538 Gene

Localization for LOC108004538 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 LOC108004538 Gene

Pathways & Interactions for LOC108004538 Gene

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SuperPathways for LOC108004538 Gene

No Data Available

Interacting Proteins for LOC108004538 Gene

Gene Ontology (GO) - Biological Process for LOC108004538 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for LOC108004538 Gene

Drugs & Compounds for LOC108004538 Gene

No Compound Related Data Available

Transcripts for LOC108004538 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for LOC108004538 Gene

No ASD Table

No data available for mRNA/cDNA for LOC108004538 Gene

Expression for LOC108004538 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 LOC108004538 Gene

Orthologs for LOC108004538 Gene

No data available for Orthologs and Evolution for LOC108004538 Gene

Paralogs for LOC108004538 Gene

No data available for Paralogs for LOC108004538 Gene

Variants for LOC108004538 Gene

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations from dbSNP and Humsavar , Structural Variations from Database of Genomic Variants (DGV) , Variation tolerance and Additional Variant Information for LOC108004538 Gene

Disorders for LOC108004538 Gene

MalaCards: The human disease database

(1) MalaCards diseases for LOC108004538 Gene - From: GeneCards

Disorder Aliases PubMed IDs
azoospermia
  • spermatogenic failure
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with LOC108004538: view

No data available for UniProtKB/Swiss-Prot , Genatlas and External Links for LOC108004538 Gene

Publications for LOC108004538 Gene

  1. DNA recombination. Recombination initiation maps of individual human genomes. (PMID: 25395542) Pratto F … Camerini-Otero RD (Science (New York, N.Y.) 2014) 3 58
  2. Duplications of the AZFa region of the human Y chromosome are mediated by homologous recombination between HERVs and are compatible with male fertility. (PMID: 12554687) Bosch E … Jobling MA (Human molecular genetics 2003) 3 58
  3. Deletion and expression analysis of AZFa genes on the human Y chromosome revealed a major role for DBY in male infertility. (PMID: 10767340) Foresta C … Moro E (Human molecular genetics 2000) 3 58
  4. AZFa deletions in Sertoli cell-only syndrome: a retrospective study. (PMID: 10956551) Blagosklonova O … Bresson JL (Molecular human reproduction 2000) 3 58
  5. Deletion of azoospermia factor a (AZFa) region of human Y chromosome caused by recombination between HERV15 proviruses. (PMID: 11001932) Sun C … Page DC (Human molecular genetics 2000) 3 58

No data available for External Links for LOC108004538 Gene

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