Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
51322
Gene name Gene Name - the full gene name approved by the HGNC.
WW domain containing adaptor with coiled-coil
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
WAC
Synonyms (NCBI Gene) Gene synonyms aliases
BM-016, DESSH, PRO1741, Wwp4
Disease Acronyms (UniProt) Disease acronyms from UniProt database
DESSH
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10p12.1|10p12.1-p11.2
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene contains a WW domain, which is a protein module found in a wide range of signaling proteins. This domain mediates protein-protein interactions and binds proteins containing short linear peptide motifs that are proline-rich
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs864321634 C>T Pathogenic Stop gained, non coding transcript variant, coding sequence variant
rs864321689 AGAG>- Pathogenic Non coding transcript variant, coding sequence variant, frameshift variant
rs864321690 G>A Pathogenic Stop gained, non coding transcript variant, coding sequence variant
rs864321691 ->GG Pathogenic Non coding transcript variant, coding sequence variant, frameshift variant
rs864321692 C>A Pathogenic Stop gained, non coding transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT051026 hsa-miR-17-5p CLASH 23622248
MIRT050717 hsa-miR-18a-5p CLASH 23622248
MIRT050624 hsa-miR-20a-5p CLASH 23622248
MIRT048913 hsa-miR-93-5p CLASH 23622248
MIRT046410 hsa-miR-15b-5p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000993 Function RNA polymerase II complex binding IDA 21329877
GO:0003682 Function Chromatin binding IDA 21329877
GO:0005515 Function Protein binding IPI 16189514, 17500595, 21329877, 25416956
GO:0005634 Component Nucleus TAS 22354037
GO:0005654 Component Nucleoplasm IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
615049 17327 ENSG00000095787
Protein
UniProt ID Q9BTA9
Protein name WW domain-containing adapter protein with coiled-coil
Protein function Acts as a linker between gene transcription and histone H2B monoubiquitination at 'Lys-120' (H2BK120ub1) (PubMed:21329877). Interacts with the RNA polymerase II transcriptional machinery via its WW domain and with RNF20-RNF40 via its coiled coil
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00397 WW 132 160 WW domain Domain
Sequence
MVMYARKQQRLSDGCHDRRGDSQPYQALKYSSKSHPSSGDHRHEKMRDAGDPSPPNKMLR
RSDSPENKYSDSTGHSKAKNVHTHRVRERDGGTSYSPQENSHNHSALHSSNSHSSNPSNN
PSKTSDAPYDSADDWSEHISSSGKKYYYNCRTEVSQWEKPKEWLEREQRQKEANKMAVNS
FPKDRDYRREVMQATATSGFASGMEDKHSSDASSLLPQNILSQTSRHNDRDYRLPRAETH
SSSTPVQHPIKPVVHPTATPSTVPSSPFTLQSDHQPKKSFDANGASTLSKLPTPTSSVPA
QKTERKESTSGDKPVSHSCTTPSTSSASGLNPTSAPPTSASAVPVSPVPQSPIPPLLQDP
NLLRQLLPALQATLQLNNSNVDISKINEVLTAAVTQASLQSIIHKFLTAGPSAFNITSLI
SQAAQLSTQAQPSNQSPMSLTSDASSPRSYVSPRISTPQTNTVPIKPLISTPPVSSQPKV
STPVVKQGPVSQSATQQPVTADKQQGHEPVSPRSLQRSSSQRSPSPGPNHTSNSSNASNA
TVVPQNSSARSTCSLTPALAAHFSENLIKHVQGWPADHAEKQASRLREEAHNMGTIHMSE
ICTELKNLRSLVRVCEIQATLREQRILFLRQQIKELEKLKNQNSFMV
Sequence length 647
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    E3 ubiquitin ligases ubiquitinate target proteins
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Alzheimer disease Alzheimer`s Disease rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039
View all (65 more)
26830138
Attention deficit hyperactivity disorder Attention deficit hyperactivity disorder rs786205019
Colorectal cancer Colorectal Carcinoma rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800
View all (467 more)
Desanto-shinawi syndrome DESANTO-SHINAWI SYNDROME rs864321689, rs864321690, rs864321691, rs864321692, rs864321634, rs864321693, rs886041614, rs1085307480, rs1135401769, rs1554791124, rs1554791943, rs1554791975, rs1564421528, rs1589247025, rs1589196229
View all (1 more)
26757981, 26264232
Unknown
Disease term Disease name Evidence References Source
Desanto-Shinawi Syndrome DeSanto-Shinawi syndrome due to WAC point mutation, DeSanto-Shinawi syndrome GenCC
Diabetes Diabetes GWAS
Associations from Text Mining
Disease Name Relationship Type References
Alcohol Related Disorders Associate 32214004
Attention Deficit Disorder with Hyperactivity Associate 35052433
Auditory Perceptual Disorders Associate 35052433
Brain Diseases Associate 32214004
Cognition Disorders Associate 32214004
Congenital Abnormalities Associate 32214004
Developmental Disabilities Associate 32214004
Heart Defects Congenital Associate 34324492
Intellectual Disability Associate 32214004
Mental Disorders Associate 32214004