Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
117583
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
Par-3 family cell polarity regulator beta |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
PARD3B |
Synonyms (NCBI Gene)
Gene synonyms aliases
|
ALS2CR19, PAR3B, PAR3L, PAR3beta |
Chromosome
Chromosome number
|
2 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
2q33.3 |
UniProt ID |
Q8TEW8
|
Protein name |
Partitioning defective 3 homolog B (Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 19 protein) (PAR3-beta) (Partitioning defective 3-like protein) (PAR3-L protein) |
Protein function |
Putative adapter protein involved in asymmetrical cell division and cell polarization processes. May play a role in the formation of epithelial tight junctions. |
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF12053
|
Par3_HAL_N_term |
1 → 83 |
N-terminal of Par3 and HAL proteins |
Family |
PF00595
|
PDZ |
382 → 467 |
PDZ domain |
Domain |
PF00595
|
PDZ |
498 → 589 |
PDZ domain |
Domain |
|
Tissue specificity |
TISSUE SPECIFICITY: Highly expressed in kidney, lung and skeletal muscle. Expressed at intermediate levels in brain, heart, placenta, liver and pancreas. Isoform 1 is predominant, while isoform 2 and isoform 3 are expressed at lower levels. |
Sequence |
|
Sequence length |
1205 |
Interactions |
View interactions
|
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Autism |
Autistic Disorder |
rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542 View all (8 more) |
22843504 |
Leukemia |
Leukemia, Myelocytic, Acute |
rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297 |
27903959 |
Neurodevelopmental disorders |
Neurodevelopmental Disorders |
rs869312846, rs869312840, rs869312848, rs869312849, rs869312845, rs886041956, rs1064795110, rs1555762734, rs1555764992, rs1568512728, rs1568532361, rs1595472741, rs1595472764, rs1595476797, rs1016320330, rs1595127294, rs1600392059 View all (2 more) |
28191889 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Asthma |
Asthma |
|
25918132 |
ClinVar |
Intracranial Aneurysm |
Intracranial Aneurysm |
|
|
GWAS |
Diabetes |
Diabetes |
|
|
GWAS |
Attention Deficit Hyperactivity Disorder |
Attention Deficit Hyperactivity Disorder |
|
|
GWAS |
Metabolic Syndrome |
Metabolic Syndrome |
|
|
GWAS |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Acquired Immunodeficiency Syndrome |
Associate
|
21502085, 24240316, 29641325 |
Colorectal Neoplasms |
Stimulate
|
28443499 |
HIV Infections |
Associate
|
29641325 |
Neoplasms |
Stimulate
|
28443499 |
Osteoarthritis |
Associate
|
24825461 |
Reticular dysgenesis |
Associate
|
40064387 |
|