PILR-Alpha-Associated Neural Protein

Alternative Names

PIANP
PILRA-Associated Neural Protein
PANP
Liver Endothelial Differentiation-Associated Protein, 1
LEDA1

OMIM Number

Gene Map Locus

12p13.31

Description

The PIANP gene encodes a protein that acts as a ligand for PILRA, an immune inhibitory receptor. PIANP binds to the PILRA receptor and mediates its activation in neural tissues, thereby playing a role in immune regulation. This binding to PILRA is dependent on the presence of sialylated glycans and an O-glycosylated threonine in PIANP.

Molecular Genetics

The PIANP gene is located on the short arm of chromosome 12 at position 12p13.31. It spans a length of just 9.9 kb and its coding sequence is spread across 8 exons. The gene encodes a 30 kDa protein product made up of 282 amino acids. Alternative splicing results in an additional isoform consisting of 276 amino acids. The gene is overexpressed in the frontal cortex and basal ganglia of the brain. Low levels of PIANP expression can also be seen in the spleen, heart, liver and kidney.

Epidemiology in the Arab World

View Map

Saudi Arabia

Other Reports

Saudi Arabia

Anazi et al. (2016) carried out a study that highlighted the effectiveness of genomic tools in diagnosing Intellectual Disability (ID) cases compared to standard clinical evaluations. Exome sequencing helped identify a homozygous c.340C>T (p.Arg114*) mutation in the PIANP gene of a 20 month old Saudi boy. The patient, born to consanguineous parents, suffered from global developmental delay, bilateral cryptorchidism, hypotonia, almond shaped eyes, tapered fingers and a slightly prominent forehead. The identified mutation was considered pathogenic as it occurred in a gene enriched in the cerebellum. Further, it was a loss-of-function mutation that segregated fully with the phenotype and had a minor allele frequency <0.001 based on 1500 Saudi exomes.

External Links

http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIANP

Contributors

Sayeeda Hana: 22.01.2017

Edit History

Sami Bizzari: 17.05.2017

Back to search Result