Preferred Label : PHLDA2 wt Allele;
NCIt synonyms : TSSC3; HLDA2; IPL; BRW1C; Pleckstrin Homology-Like Domain, Family A, Member 2 wt Allele; BWR1C; Tumor Suppressing Subtransferable Candidate 3 Gene; Beckwith-Wiedemann Region 1C Gene; Tumor Suppressing Subchromosomal Transferable Fragment cDNA 3; Tumor-Suppressing STF cDNA 3; Tumor-Suppressing Subchromosomal Transferable Fragment Candidate Gene 3;
NCIt definition : Human PHLDA2 wild-type allele is located in the vicinity of 11p15.5 and is approximately
1 kb in length. This allele, which encodes pleckstrin homology-like domain family
A member 2 protein, is involved in tumor suppression. Aberrant alterations in this
region generate variant alleles that are associated with Beckwith-Wiedemann syndrome,
Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast
cancer.;
NCIt note : Human TSSC3 Gene at 11p15.5 is located in a 1 Mb imprinted tumor-suppressor gene domain
that includes H19, IGF2, CDKN1C, and KVLQT1. A 170 kb subregion between D11S601 and
D11S679 contains NAP2, CDKN1C, KVLQT1, BWR1A, BWR1B, and TSSC3. TSSC3 is located between
centromeric NAP2 and telomeric CDKN1C. Like other imprinted genes, TSSC3 is small
with small introns; TSSC3 contains a single 223 base pair intron and encodes TSSC3
Protein. TSSC3 is maternally expressed in placenta, liver, fetal and adult liver,
lung, and kidney, adult pancreas, and fetal tissues. Similar to TDAG51, essential
for FAS expression and apoptosis susceptibility, TSSC3 may also be involved in susceptibility
to apoptosis. Studies of the mouse gene, however, which is also located in an imprinted
gene domain, have shown that the product of this gene regulates placental growth.;
GenBank Accession Number : NM_003311;
Origin ID : C54399;
UMLS CUI : C1705259;
OMIM relation
- Semantic type(s)
- gene_found_in_organism
- gene_in_chromosomal_location
- gene_plays_role_in_process
