PAN2 Chromosome 12
Poly(A) specific ribonuclease subunit PAN2
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What This Gene Does
This gene encodes a deadenylase that functions as the catalytic subunit of the polyadenylate binding protein dependent poly(A) nuclease complex. The encoded protein is a magnesium dependent 3' to 5' exoribonuclease that is involved in the degradation of cytoplasmic mRNAs. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
Gene Info
Gene Group
"WD repeat domain containing|Ubiquitin specific peptidases|Exonucleases"
Locus Type
gene with protein product
Location
12q13.3
Ensembl
ENSG00000135473
Associated Conditions (2)
PAN2-related multiple congenital anomalies syndrome
DEVELOPMENTAL DELAY WITH VARIABLE CARDIAC AND RENAL CONGENITAL ANOMALIES AND DYSMORPHIC FACIES
Key Variants
RS1875318087
Likely pathogenic
PAN2-related multiple congenital anomalies syndrome, PAN2-related multiple congenital anomalies syndrome
Health Risk
RS2135946371
Pathogenic/Likely pathogenic
PAN2-related multiple congenital anomalies syndrome, DEVELOPMENTAL DELAY WITH VARIABLE CARDIAC AND RENAL CONGENITAL ANOMALIES AND DYSMORPHIC FACIES, PAN2-related multiple congenital anomalies syndrome
Health Risk
RS754998068
Pathogenic/Likely pathogenic
PAN2-related multiple congenital anomalies syndrome, DEVELOPMENTAL DELAY WITH VARIABLE CARDIAC AND RENAL CONGENITAL ANOMALIES AND DYSMORPHIC FACIES, PAN2-related multiple congenital anomalies syndrome
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1875318087 | Health Risk | Likely pathogenic | PAN2-related multiple congenital anomalies syndrome, PAN2-related multiple congenital anomalies syndrome |
| RS2135946371 | Health Risk | Pathogenic/Likely pathogenic | PAN2-related multiple congenital anomalies syndrome, DEVELOPMENTAL DELAY WITH VARIABLE CARDIAC AND RENAL CONGENITAL ANOMALIES AND DYSMORPHIC FACIES, PAN2-related multiple congenital anomalies syndrome |
| RS754998068 | Health Risk | Pathogenic/Likely pathogenic | PAN2-related multiple congenital anomalies syndrome, DEVELOPMENTAL DELAY WITH VARIABLE CARDIAC AND RENAL CONGENITAL ANOMALIES AND DYSMORPHIC FACIES, PAN2-related multiple congenital anomalies syndrome |