This region is known to undergo recombination with another region, the AZFc P1.1b recombination region, located about 7 Mb centromere-distal of this region. Recombination between these regions can result in a deletion of the large intervening sequence, and is known as a P4/distal-P1 deletion, causing azoospermia. Recombination is not thought to occur as a result of homologous r... See more...

Aliases for LOC108868752 Gene

Aliases for LOC108868752 Gene

  • AZFb P4.1 Recombination Region 3
  • Azoospermia Factor B Palindrome 4.1 Recombination Region 3

External Ids for LOC108868752 Gene

Summaries for LOC108868752 Gene

Entrez Gene Summary for LOC108868752 Gene

  • This region is known to undergo recombination with another region, the AZFc P1.1b recombination region, located about 7 Mb centromere-distal of this region. Recombination between these regions can result in a deletion of the large intervening sequence, and is known as a P4/distal-P1 deletion, causing azoospermia. Recombination is not thought to occur as a result of homologous recombination, since these regions do not share high sequence identity. This region is contained within a large palindromic region known as P4 (palindrome 4). AZFa, AZFb, and AZFc have been defined as regions on chromosome Yq11, each containing multiple genes. Deletions in any of these regions can cause spermatogenic defects. Recombination between this region and the AZFc P1.1b recombination region removes AZFb and part of the AZFc region. [provided by RefSeq, Oct 2016]

GeneCards Summary for LOC108868752 Gene

LOC108868752 (AZFb P4.1 Recombination Region) is a Biological Region gene. Diseases associated with LOC108868752 include Azoospermia.

Additional gene information for LOC108868752 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 LOC108868752 Gene

Genomics for LOC108868752 Gene

Genomic Locations for LOC108868752 Gene

Genomic Locations for LOC108868752 Gene
chrY:-
(GRCh38/hg38)
Orientation:
Unknown strand

Genomic View for LOC108868752 Gene


Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for LOC108868752 Gene

No data available for GeneHancer (GH) Regulatory Elements for LOC108868752 Gene

Proteins for LOC108868752 Gene

Post-translational modifications for LOC108868752 Gene

No Post-translational modifications

No data available for DME Specific Peptides for LOC108868752 Gene

Domains & Families for LOC108868752 Gene

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for LOC108868752 Gene

Function for LOC108868752 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 LOC108868752 Gene

Localization for LOC108868752 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 LOC108868752 Gene

Pathways & Interactions for LOC108868752 Gene

PathCards logo

SuperPathways for LOC108868752 Gene

No Data Available
;

Gene Ontology (GO) - Biological Process for LOC108868752 Gene

None

No data available for Pathways by source , Interacting Proteins and SIGNOR curated interactions for LOC108868752 Gene

Drugs & Compounds for LOC108868752 Gene

No Compound Related Data Available

Transcripts for LOC108868752 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for LOC108868752 Gene

No ASD Table

No data available for mRNA/cDNA for LOC108868752 Gene

Expression for LOC108868752 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 LOC108868752 Gene

Orthologs for LOC108868752 Gene

No data available for Orthologs and Evolution for LOC108868752 Gene

Paralogs for LOC108868752 Gene

No data available for Paralogs for LOC108868752 Gene

Variants for LOC108868752 Gene

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP , Additional dbSNP identifiers (rs#s) , Structural Variations from Database of Genomic Variants (DGV) , Variation tolerance and Additional Variant Information for LOC108868752 Gene

Disorders for LOC108868752 Gene

MalaCards: The human disease database

(1) MalaCards diseases for LOC108868752 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 LOC108868752: view

No data available for UniProtKB/Swiss-Prot , Genatlas and External Links for LOC108868752 Gene

Publications for LOC108868752 Gene

  1. EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: state-of-the-art 2013. (PMID: 24357628) Krausz C … European Molecular Genetics Quality Network (Andrology 2014) 3 54
  2. The likelihood of finding mature sperm cells in men with AZFb or AZFb-c deletions: six new cases and a review of the literature (1994-2010). (PMID: 21367410) Kleiman SE … Gamzu R (Fertility and sterility 2011) 3 54
  3. Structural variation of the human genome: mechanisms, assays, and role in male infertility. (PMID: 21210740) Carvalho CM … Lupski JR (Systems biology in reproductive medicine 2011) 3 54
  4. Massive deletion in AZFb/b+c and azoospermia with Sertoli cell only and/or maturation arrest. (PMID: 17877719) Yang Y … Zhang SZ (International journal of andrology 2008) 3 54
  5. Screening for Y-chromosome microdeletions in infertile Indian males: utility of simplified multiplex PCR. (PMID: 18403789) Mitra A … Gupta SK (The Indian journal of medical research 2008) 3 54

No data available for Mastermind for LOC108868752 Gene

Products for LOC108868752 Gene

Sources for LOC108868752 Gene