STAC3 (SH3 and cysteine rich domain 3)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
246329
Gene name Gene Name - the full gene name approved by the HGNC.
SH3 and cysteine rich domain 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
STAC3
Synonyms (NCBI Gene) Gene synonyms aliases
CMYO13, CMYP13, MYPBB, NAM
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CMYO13
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q13.3
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is a component of the excitation-contraction coupling machinery of muscles. This protein is a member of the Stac gene family and contains an N-terminal cysteine-rich domain and two SH3 domains. Mutations in this gene are a
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(5)
SNP ID Visualize variation Clinical significance Consequence
rs140291094 C>G,T Pathogenic Missense variant, non coding transcript variant, stop gained, coding sequence variant
rs371720347 T>A,C Likely-pathogenic, pathogenic Missense variant, stop gained, non coding transcript variant, coding sequence variant
rs751033943 T>A Uncertain-significance, pathogenic Intron variant
rs773050511 AGAG>- Pathogenic Frameshift variant, non coding transcript variant, coding sequence variant
rs779483367 C>A,G,T Pathogenic, uncertain-significance Splice acceptor variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(17)
miRTarBase ID miRNA Experiments Reference
MIRT1394356 hsa-miR-3160-5p CLIP-seq
MIRT1394357 hsa-miR-3180-5p CLIP-seq
MIRT1394358 hsa-miR-4267 CLIP-seq
MIRT2340472 hsa-miR-1249 CLIP-seq
MIRT2340473 hsa-miR-4290 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(19)
GO ID Ontology Definition Evidence Reference
GO:0003009 Process Skeletal muscle contraction IBA 21873635
GO:0003009 Process Skeletal muscle contraction IMP 23736855
GO:0005515 Function Protein binding IPI 16189514, 21516116, 25416956, 26871637, 29892012, 31515488, 32296183, 32814053
GO:0005654 Component Nucleoplasm IDA
GO:0005829 Component Cytosol IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
615521 28423 ENSG00000185482
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q96MF2
Protein name SH3 and cysteine-rich domain-containing protein 3
Protein function Required for normal excitation-contraction coupling in skeletal muscle and for normal muscle contraction in response to membrane depolarization. Required for normal Ca(2+) release from the sarcplasmic reticulum, which ultimately leads to muscle
PDB 2DB6 , 6B29 , 6UY7 , 6UY8 , 6UY9
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00130 C1_1 90 → 144 Phorbol esters/diacylglycerol binding domain (C1 domain) Domain
PF16664 STAC2_u1 146 → 253 Disordered
PF00018 SH3_1 253 → 298 SH3 domain Domain
PF07653 SH3_2 310 → 364 Variant SH3 domain Domain
Sequence 
MTEKEVLESPKPSFPAETRQSGLQRLKQLLRKGSTGTKEMELPPEPQANGEAVGAGGGPI
YYIYEEEEEEEEEEEEPPPEPPKLVNDKPHKFKDHFFKKPKFCDVCARMIVLNNKFGLRC
KNCKTNIHEHCQSYVEMQRCFGKIPPGFHRAYSSPLYSNQQYACVKDLSAANRNDPVFET
LRTGVIMANKERKKGQADKKNPVAAMMEEEPESARPEEGKPQDGNPEGDKKAEKKTPDDK
HKQPGFQQSHYFVALYRFKALEKDDLDFPPGEKITVIDDSNEEWWRGKIGEKVGFFPPNF
IIRVRAGERVHRVTRSFVGNREIGQITLKKDQIVVQKGDEAGGYVKVYTGRKVGLFPTDF
LEEI
Sequence length 364
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (6)
Causal
Disease term Disease name dbSNP ID References
Arthrogryposis multiplex congenita Arthrogryposis rs1586285494, rs80358233, rs137853305, rs1559154278, rs398124167, rs398124172, rs587780399, rs786204576, rs786204430, rs769345284, rs749355583, rs793888524, rs793888525, rs878854368, rs555445835
View all (138 more)
Congenital scoliosis Progressive congenital scoliosis rs1597568822
Cryptorchidism Cryptorchidism rs121912555, rs104894697, rs104894698, rs398122886
Hearing loss Conductive hearing loss rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359
View all (184 more)
Show/Hide Unknown Diseases (2)
Unknown
Disease term Disease name Evidence References Source
Ptosis Blepharoptosis, Ptosis ClinVar
Myopathy Bailey-Bloch congenital myopathy GenCC
Show/Hide Text Mining Associations (22)
Associations from Text Mining
Disease Name Relationship Type References
Arrhythmias Cardiac Associate 35414440
Arthrogryposis Associate 33060286, 33820833
Bone Diseases Developmental Associate 33820833
Carcinoma Renal Cell Associate 35120484, 37908350
Central Nervous System Vascular Malformations Associate 33060286
Cleft Palate Associate 28777491
Growth Disorders Associate 28777491
Hypothermia Associate 35414440
Kyphoscoliosis 1 Associate 28777491
Malignant Hyperthermia Associate 28777491, 40262809