Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	23063
Gene name	WAPL cohesin release factor
Gene symbol	WAPL
Synonyms (NCBI Gene)	FOEKIAA0261WAPAL
Chromosome	10
Chromosome location	10q23.2

Show/Hide all (14)

miRTarBase ID	miRNA	Experiments	Reference
MIRT533217	hsa-miR-362-3p	PAR-CLIP	22012620
MIRT533216	hsa-miR-329-3p	PAR-CLIP	22012620
MIRT533215	hsa-miR-8485	PAR-CLIP	22012620
MIRT533214	hsa-miR-603	PAR-CLIP	22012620
MIRT533213	hsa-miR-323b-3p	PAR-CLIP	22012620
MIRT533212	hsa-miR-6793-3p	PAR-CLIP	22012620
MIRT533211	hsa-miR-3941	PAR-CLIP	22012620
MIRT533210	hsa-miR-2355-5p	PAR-CLIP	22012620
MIRT533209	hsa-miR-3679-3p	PAR-CLIP	22012620
MIRT533208	hsa-miR-4446-5p	PAR-CLIP	22012620
MIRT533207	hsa-miR-3675-3p	PAR-CLIP	22012620
MIRT533206	hsa-miR-8063	PAR-CLIP	22012620
MIRT533205	hsa-miR-1306-5p	PAR-CLIP	22012620
MIRT533204	hsa-miR-20a-3p	PAR-CLIP	22012620

Show/Hide all (22)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000070	Process	Mitotic sister chromatid segregation	IMP	17113138
GO:0000775	Component	Chromosome, centromeric region	TAS
GO:0000785	Component	Chromatin	IDA	17113138, 19696148
GO:0005515	Function	Protein binding	IPI	17112726, 17113138, 19696148, 19907496, 20360068, 21111234, 25173175, 26496610, 29263825, 29867216, 33961781, 35271311
GO:0005634	Component	Nucleus	IDA	17113138, 19696148
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0005694	Component	Chromosome	TAS
GO:0005737	Component	Cytoplasm	IDA	17113138, 19696148
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0008156	Process	Negative regulation of DNA replication	IMP	19907496
GO:0035562	Process	Negative regulation of chromatin binding	IMP	17113138, 19696148
GO:0045171	Component	Intercellular bridge	IDA
GO:0045875	Process	Negative regulation of sister chromatid cohesion	IMP	19696148, 21111234
GO:0051301	Process	Cell division	IEA
GO:0071168	Process	Protein localization to chromatin	IMP	21111234
GO:0072686	Component	Mitotic spindle	IDA
GO:0140083	Function	ATP-dependent protein-DNA unloader activity	IMP	17113138

MIM	HGNC	e!Ensembl
610754	23293	ENSG00000062650

Q7Z5K2

Protein name

Wings apart-like protein homolog (Friend of EBNA2 protein) (WAPL cohesin release factor)

Protein function

Regulator of sister chromatid cohesion in mitosis which negatively regulates cohesin association with chromatin (PubMed:26299517). Involved in both sister chromatid cohesion during interphase and sister-chromatid resolution during early stages o

PDB

4K6J , 5HDT

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07814	WAPL	638 → 998	Wings apart-like protein regulation of heterochromatin	Family

Tissue specificity

TISSUE SPECIFICITY: Isoform 1 is highly expressed in uterine cervix tumor. Isoform 2 is widely expressed with a high level in skeletal muscle and heart. {ECO:0000269|PubMed:15150110, ECO:0000269|PubMed:15383329}.

Sequence

MTSRFGKTYSRKGGNGSSKFDEVFSNKRTTLSTKWGETTFMAKLGQKRPNFKPDIQEIPK
KPKVEEESTGDPFGFDSDDESLPVSSKNLAQVKCSSYSESSEAAQLEEVTSVLEANSKIS
HVVVEDTVVSDKCFPLEDTLLGKEKSTNRIVEDDASISSCNKLITSDKVENFHEEHEKNS
HHIHKNADDSTKKPNAETTVASEIKETNDTWNSQFGKRPESPSEISPIKGSVRTGLFEWD
NDFEDIRSEDCILSLDSDPLLEMKDDDFKNRLENLNEAIEEDIVQSVLRPTNCRTYCRAN
KTKSSQGASNFDKLMDGTSQALAKANSESSKDGLNQAKKGGVSCGTSFRGTVGRTRDYTV
LHPSCLSVCNVTIQDTMERSMDEFTASTPADLGEAGRLRKKADIATSKTTTRFRPSNTKS
KKDVKLEFFGFEDHETGGDEGGSGSSNYKIKYFGFDDLSESEDDEDDDCQVERKTSKKRT
KTAPSPSLQPPPESNDNSQDSQSGTNNAENLDFTEDLPGVPESVKKPINKQGDKSKENTR
KIFSGPKRSPTKAVYNARHWNHPDSEELPGPPVVKPQSVTVRLSSKEPNQKDDGVFKAPA
PPSKVIKTVTIPTQPYQDIVTALKCRREDKELYTVVQHVKHFNDVVEFGENQEFTDDIEY
LLSGLKSTQPLNTRCLSVISLATKCAMPSFRMHLRAHGMVAMVFKTLDDSQHHQNLSLCT
AALMYILSRDRLNMDLDRASLDLMIRLLELEQDASSAKLLNEKDMNKIKEKIRRLCETVH
NKHLDLENITTGHLAMETLLSLTSKRAGDWFKEELRLLGGLDHIVDKVKECVDHLSRDED
EEKLVASLWGAERCLRVLESVTVHNPENQSYLIAYKDSQLIVSSAKALQHCEELIQQYNR
AEDSICLADSKPLPHQNVTNHVGKAVEDCMRAIIGVLLNLTNDNEWGSTKTGEQDGLIGT
ALNCVLQVPKYLPQEQRFDIRVLGLGLLINLVEYSARNRHCLVNMETSCSFDSSICSGEG
DDSLRIGGQVHAVQALVQLFLERERAAQLAESKTDELIKDAPTTQHDKSGEWQETSGEIQ
WVSTEKTDGTEEKHKKEEEDEELDLNKALQHAGKHMEDCIVASYTALLLGCLCQESPINV
TTVREYLPEGDFSIMTEMLKKFLSFMNLTCAVGTTGQKSISRVIEYLEHC

Sequence length

1190

Interactions

View interactions

	KEGG		Reactome
	Cell cycle		Separation of Sister Chromatids Establishment of Sister Chromatid Cohesion Cohesin Loading onto Chromatin Resolution of Sister Chromatid Cohesion

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)

Show/Hide Unknown Diseases (11)

Phenotype Name	Clinical Significance	Source	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.
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CLUBFOOT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPORADIC AMYOTROPHIC LATERAL SCLEROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENTRICULAR SEPTAL DEFECTS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WAPL-related disorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (6)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	39241017	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	17382297		★★★★★ ★☆☆☆☆ Found in Text Mining only
Common Migraine	Common Migraine	GWASDB_DG	23793025		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	18235242		★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	GWASCAT_DG	23793025		★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	26722608	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

WAPL (WAPL cohesin release factor)