Gene Gene information from NCBI Gene database.
Entrez ID 51322
Gene name WW domain containing adaptor with coiled-coil
Gene symbol WAC
Synonyms (NCBI Gene)
BM-016DESSHPRO1741Wwp4
Chromosome 10
Chromosome location 10p12.1|10p12.1-p11.2
Summary 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.
35
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.
972
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
GO ID Ontology Definition Evidence Reference
GO:0000993 Function RNA polymerase II complex binding IBA
GO:0000993 Function RNA polymerase II complex binding IDA 21329877
GO:0003682 Function Chromatin binding IBA
GO:0003682 Function Chromatin binding IDA 21329877
GO:0005515 Function Protein binding IPI 16189514, 17500595, 21329877, 25416956, 32814053
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
615049 17327 ENSG00000095787
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
119
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Likely pathogenic rs1554791975 RCV005900096
DeSanto-Shinawi syndrome Pathogenic rs2132862551 RCV002272832
DeSanto-Shinawi syndrome due to WAC point mutation Pathogenic; Likely pathogenic rs1841061596, rs2132834429, rs2132709607, rs2132825843, rs753403940, rs2132628986, rs1836464000, rs754451905, rs2132669171, rs2132826154, rs2132853185, rs2132669368, rs2491537238, rs2491536548, rs774496658
View all (29 more)
RCV001332151
RCV001807529
RCV001807530
RCV001785133
RCV001784026
RCV001784027
RCV001814699
RCV001843815
RCV002052186
RCV002226584
RCV002226949
RCV002266806
RCV002289319
RCV002291131
RCV003492755
RCV002308479
RCV002319759
RCV000203516
RCV000203534
RCV000203559
RCV000203521
RCV000203532
RCV000203557
RCV003108239
RCV003139412
RCV003153159
RCV003148704
RCV003326302
RCV003389359
RCV003405126
RCV003447763
RCV003447847
RCV005628253
RCV003883149
RCV000496145
RCV000505201
RCV000591919
RCV000626158
RCV000708579
RCV001001096
RCV003333120
RCV002250714
RCV001175151
RCV001779149
RCV003492241
Intellectual disability Likely pathogenic; Pathogenic rs1085307480 RCV005621954
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Lung cancer Benign rs332158 RCV005922270
Malignant tumor of esophagus Benign rs374136210 RCV005916625
Ovarian serous cystadenocarcinoma Benign rs374136210 RCV005916626
Pancreatic adenocarcinoma Uncertain significance rs769755168 RCV005927076
Associations from Text MiningDisease associations identified through Pubtator
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