Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	50855
Gene name	Par-6 family cell polarity regulator alpha
Gene symbol	PARD6A
Synonyms (NCBI Gene)	PAR-6APAR6PAR6CPAR6alphaTAX40TIP-40
Chromosome	16
Chromosome location	16q22.1
Summary	This gene is a member of the PAR6 family and encodes a protein with a PSD95/Discs-large/ZO1 (PDZ) domain and a semi-Cdc42/Rac interactive binding (CRIB) domain. This cell membrane protein is involved in asymmetrical cell division and cell polarization pro

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miRTarBase ID	miRNA	Experiments	Reference
MIRT006685	hsa-miR-595	qRT-PCRWestern blot	22101077
MIRT1213706	hsa-miR-1233	CLIP-seq
MIRT1213707	hsa-miR-146b-3p	CLIP-seq
MIRT1213708	hsa-miR-2114	CLIP-seq
MIRT1213709	hsa-miR-3126-5p	CLIP-seq
MIRT1213710	hsa-miR-3611	CLIP-seq
MIRT1213711	hsa-miR-3929	CLIP-seq
MIRT1213712	hsa-miR-4286	CLIP-seq
MIRT1213713	hsa-miR-4419a	CLIP-seq
MIRT1213714	hsa-miR-4419b	CLIP-seq
MIRT1213715	hsa-miR-4478	CLIP-seq
MIRT1213716	hsa-miR-4510	CLIP-seq
MIRT1213717	hsa-miR-4677-3p	CLIP-seq
MIRT1213718	hsa-miR-548ac	CLIP-seq
MIRT1213719	hsa-miR-548ae	CLIP-seq
MIRT1213720	hsa-miR-548aj	CLIP-seq
MIRT1213721	hsa-miR-548am	CLIP-seq
MIRT1213722	hsa-miR-548d-3p	CLIP-seq
MIRT1213723	hsa-miR-548x	CLIP-seq
MIRT1213724	hsa-miR-548z	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0001726	Component	Ruffle	IEA
GO:0005515	Function	Protein binding	IPI	10934474, 10954424, 11257119, 11260256, 14676191, 15590654, 15761148, 16189514, 17057644, 17350623, 19617897, 20719959, 21516116, 25416956, 25814554, 25852190, 26496610, 32296183, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA	20719959
GO:0005813	Component	Centrosome	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005923	Component	Bicellular tight junction	IEA
GO:0005923	Component	Bicellular tight junction	ISS
GO:0005938	Component	Cell cortex	IBA
GO:0005938	Component	Cell cortex	IEA
GO:0007098	Process	Centrosome cycle	IBA
GO:0007098	Process	Centrosome cycle	IMP	20719959
GO:0007163	Process	Establishment or maintenance of cell polarity	IBA
GO:0016020	Component	Membrane	IEA
GO:0016032	Process	Viral process	TAS	9482110
GO:0016324	Component	Apical plasma membrane	IBA
GO:0030742	Function	GTP-dependent protein binding	IEA
GO:0030742	Function	GTP-dependent protein binding	ISS
GO:0031267	Function	Small GTPase binding	IEA
GO:0031267	Function	Small GTPase binding	ISS
GO:0034451	Component	Centriolar satellite	IDA	20719959
GO:0034451	Component	Centriolar satellite	IEA
GO:0042995	Component	Cell projection	IEA
GO:0045197	Process	Establishment or maintenance of epithelial cell apical/basal polarity	IDA	11257119
GO:0045197	Process	Establishment or maintenance of epithelial cell apical/basal polarity	ISS
GO:0045217	Process	Cell-cell junction maintenance	IEA
GO:0045217	Process	Cell-cell junction maintenance	ISS
GO:0050714	Process	Positive regulation of protein secretion	IEA
GO:0051301	Process	Cell division	IEA
GO:0060341	Process	Regulation of cellular localization	IBA
GO:0070160	Component	Tight junction	NAS	11257119
GO:0070161	Component	Anchoring junction	IEA
GO:0120157	Component	PAR polarity complex	IPI	11257119
GO:0120157	Component	PAR polarity complex	ISS
GO:1904781	Process	Positive regulation of protein localization to centrosome	IMP	20719959

MIM	HGNC	e!Ensembl
607484	15943	ENSG00000102981

Q9NPB6

Protein name

Partitioning defective 6 homolog alpha (PAR-6) (PAR-6 alpha) (PAR-6A) (PAR6C) (Tax interaction protein 40) (TIP-40)

Protein function

Adapter protein involved in asymmetrical cell division and cell polarization processes. Probably involved in the formation of epithelial tight junctions. Association with PARD3 may prevent the interaction of PARD3 with F11R/JAM1, thereby prevent

PDB

1WMH

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00564	PB1	15 → 95	PB1 domain	Domain
PF00595	PDZ	157 → 247	PDZ domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in pancreas, skeletal muscle, brain and heart. Weakly expressed in kidney and placenta.

Sequence

MARPQRTPARSPDSIVEVKSKFDAEFRRFALPRASVSGFQEFSRLLRAVHQIPGLDVLLG
YTDAHGDLLPLTNDDSLHRALASGPPPLRLLVQKRAEADSSGLAFASNSLQRRKKGLLLR
PVAPLRTRPPLLISLPQDFRQVSSVIDVDLLPETHRRVRLHKHGSDRPLGFYIRDGMSVR
VAPQGLERVPGIFISRLVRGGLAESTGLLAVSDEILEVNGIEVAGKTLDQVTDMMVANSH
NLIVTVKPANQRNNVVRGASGRLTGPPSAGPGPAEPDSDDDSSDLVIENRQPPSSNGLSQ
GPPCWDLHPGCRHPGTRSSLPSLDDQEQASSGWGSRIRGDGSGFSL

Sequence length

346

Interactions

View interactions

KEGG Pathway	Reactome Pathway
Rap1 signaling pathway	TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition)
Endocytosis	Tight junction interactions
Axon guidance	Asymmetric localization of PCP proteins
Hippo signaling pathway
Tight junction
Human papillomavirus infection

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
PARD6A-related disorder	Likely benign; Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (10)
Breast Neoplasms	Breast neoplasm	Pubtator	18922891, 25756394	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	23341197		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	18922891	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	35379775	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	28590507		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	29048609	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	19617897, 21189248		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	35379775	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	25756394	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	18632643		★★★★★ ★☆☆☆☆ Found in Text Mining only

PARD6A (par-6 family cell polarity regulator alpha)

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