Gene Gene information from NCBI Gene database.
Entrez ID 127294
Gene name Myomesin 3
Gene symbol MYOM3
Synonyms (NCBI Gene)
-
Chromosome 1
Chromosome location 1p36.11
miRNA miRNA information provided by mirtarbase database.
115
miRTarBase ID miRNA Experiments Reference
MIRT1170306 hsa-miR-1207-3p CLIP-seq
MIRT1170307 hsa-miR-125a-3p CLIP-seq
MIRT1170308 hsa-miR-150 CLIP-seq
MIRT1170309 hsa-miR-1913 CLIP-seq
MIRT1170310 hsa-miR-22 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
9
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005737 Component Cytoplasm IEA
GO:0031430 Component M band IBA
GO:0031430 Component M band IEA
GO:0031430 Component M band ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616832 26679 ENSG00000142661
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5VTT5
Protein name Myomesin-3 (Myomesin family member 3)
Protein function May link the intermediate filament cytoskeleton to the M-disk of the myofibrils in striated muscle.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07679 I-set 154 247 Immunoglobulin I-set domain Domain
PF07679 I-set 271 362 Immunoglobulin I-set domain Domain
PF00041 fn3 374 459 Fibronectin type III domain Domain
PF00041 fn3 502 587 Fibronectin type III domain Domain
PF00041 fn3 603 685 Fibronectin type III domain Domain
PF00041 fn3 701 786 Fibronectin type III domain Domain
PF00041 fn3 803 888 Fibronectin type III domain Domain
PF00047 ig 1127 1200 Immunoglobulin domain Domain
PF07679 I-set 1335 1424 Immunoglobulin I-set domain Domain
Sequence
MTLPHSLGGAGDPRPPQAMEVHRLEHRQEEEQKEERQHSLRMGSSVRRRTFRSSEEEHEF
SAADYALAAALALTASSELSWEAQLRRQTSAVELEERGQKRVGFGNDWERTEIAFLQTHR
LLRQRRDWKTLRRRTEEKVQEAKELRELCYGRGPWFWIPLRSHAVWEHTTVLLTCTVQAS
PPPQVTWYKNDTRIDPRLFRAGKYRITNNYGLLSLEIRRCAIEDSATYTVRVKNAHGQAS
SFAKVLV
RTYLGKDAGFDSEIFKRSTFGPSVEFTSVLKPVFAREKEPFSLSCLFSEDVLD
AESIQWFRDGSLLRSSRRRKILYTDRQASLKVSCTYKEDEGLYMVRVPSPFGPREQSTYV
LV
RDAEAENPGAPGSPLNVRCLDVNRDCLILTWAPPSDTRGNPITAYTIERCQGESGEWI
ACHEAPGGTCRCPIQGLVEGQSYRFRVRAISRVGSSVPS
KASELVVMGDHDAARRKTEIP
FDLGNKITISTDAFEDTVTIPSPPTNVHASEIREAYVVLAWEEPSPRDRAPLTYSLEKSV
IGSGTWEAISSESPVRSPRFAVLDLEKKKSYVFRVRAMNQYGLSDPS
EPSEPIALRGPPA
TLPPPAQVQAFRDTQTSVSLTWDPVKDPELLGYYIYSRKVGTSEWQTVNNKPIQGTRFTV
PGLRTGKEYEFCVRSVSEAGVGESS
AATEPIRVKQALATPSAPYGFALLNCGKNEMVIGW
KPPKRRGGGKILGYFLDQHDSEELDWHAVNQQPIPTRVCKVSDLHEGHFYEFRARAANWA
GVGELS
APSSLFECKEWTMPQPGPPYDVRASEVRATSLVLQWEPPLYMGAGPVTGYHVSF
QEEGSEQWKPVTPGPISGTHLRVSDLQPGKSYVFQVQAMNSAGLGQPS
MPTDPVLLEDKP
GAHEIEVGVDEEGFIYLAFEAPEAPDSSEFQWSKDYKGPLDPQRVKIEDKVNKSKVILKE
PGLEDLGTYSVIVTDADEDISASHTLTEEELEKLKKLSHEIRNPVIKLISGWNIDILERG
EVRLWLEVEKLSPAAELHLIFNNKEIFSSPNRKINFDREKGLVEVIIQNLSEEDKGSYTA
QLQDGKAKNQITLTLVDDDFDKLLRKADAKRRDWKRKQGPYFERPLQWKVTEDCQVQLTC
KVTNTKKETRFQWFFQRAEMPDGQYDPETGTGLLCIEELSKKDKGIYRAMVSDDRGEDDT

ILDLTGDALDAIFTELGRIGALSATPLKIQGTEEGIRIFSKVKYYNVEYMKTTWFHKDKR
LESGDRIRTGTTLDEIWLHILDPKDSDKGKYTLEIAAGKEVRQLSTDLSGQAFEDAMAEH
QRLKTLAIIEKNRAKVVRGLPDVATIMEDKTLCLTCIVSGDPTPEISWLKNDQPVTFLDR
YRMEVRGTEVTITIEKVNSEDSGRYGVFVKNKYGSETGQVTISV
FKHGDEPKELKSM
Sequence length 1437
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Cytoskeleton in muscle cells  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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)
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.
Phenotype Name Clinical Significance Source Evidence Score
BIPOLAR DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Flexion contracture Uncertain significance; Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Colorectal Neoplasms Associate 37434131
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Type 1 Associate 37130628
★☆☆☆☆
Found in Text Mining only
Pancreatic Neoplasms Stimulate 37130628
★☆☆☆☆
Found in Text Mining only