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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	93627
Gene name	TBC1 domain containing kinase
Gene symbol	TBCK
Synonyms (NCBI Gene)	FERRY1Fy-1HSPC302IHPRF3TBCKL
Chromosome	4
Chromosome location	4q24
Summary	This gene encodes a protein that contains a protein kinase domain, a Rhodanase-like domain and the Tre-2/Bub2/Cdc16 (TBC) domain. The encoded protein is thought to play a role in actin organization, cell growth and cell proliferation by regulating the mam

Show/Hide all (23)

SNP ID	Visualize variation	Clinical significance	Consequence
rs34840340	T>A,C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs62321379	T>C	Likely-pathogenic	Splice acceptor variant
rs374319146	C>A,T	Likely-pathogenic, pathogenic	Intron variant, splice donor variant
rs376699648	T>A	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs575822089	G>A	Pathogenic, likely-pathogenic	Intron variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant, stop gained, genic upstream transcript variant
rs746860249	T>-,TT	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs760715215	C>T	Likely-pathogenic	Splice donor variant
rs762552974	G>A,C	Pathogenic	Coding sequence variant, missense variant, stop gained, non coding transcript variant
rs771481304	CATT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs869320711	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs869320769	->AT	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs909658169	AAG>-	Likely-pathogenic	Inframe deletion, non coding transcript variant, coding sequence variant
rs1057518332	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1131691329	->A	Pathogenic	Upstream transcript variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant, stop gained
rs1303851095	C>T	Pathogenic	Splice donor variant
rs1560755661	CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC>-	Pathogenic	Downstream transcript variant, splice donor variant, genic downstream transcript variant, non coding transcript variant, splice acceptor variant, coding sequence variant
rs1560929669	ATTA>-	Likely-pathogenic	Intron variant, genic upstream transcript variant, 5 prime UTR variant, frameshift variant, non coding transcript variant, coding sequence variant
rs1579198426	A>C	Pathogenic	Non coding transcript variant, coding sequence variant, intron variant, missense variant
rs1579198447	C>A	Pathogenic	Non coding transcript variant, coding sequence variant, intron variant, missense variant
rs1579257340	A>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1579342363	->TTAA	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1579391376	C>T	Pathogenic	Upstream transcript variant, genic upstream transcript variant, splice acceptor variant
rs1579395680	C>T	Pathogenic	Genic upstream transcript variant, splice donor variant

221

Show/Hide all (221)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018768	hsa-miR-335-5p	Microarray	18185580
MIRT611773	hsa-miR-8485	HITS-CLIP	23824327
MIRT611772	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611771	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611770	hsa-miR-603	HITS-CLIP	23824327
MIRT611768	hsa-miR-6729-3p	HITS-CLIP	23824327
MIRT611769	hsa-miR-6780b-3p	HITS-CLIP	23824327
MIRT620949	hsa-miR-1284	HITS-CLIP	23824327
MIRT611767	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT611766	hsa-miR-3941	HITS-CLIP	23824327
MIRT611765	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT630202	hsa-miR-4436b-5p	HITS-CLIP	23824327
MIRT611764	hsa-miR-337-3p	HITS-CLIP	23824327
MIRT630201	hsa-miR-202-5p	HITS-CLIP	23824327
MIRT620948	hsa-miR-1262	HITS-CLIP	23824327
MIRT620947	hsa-miR-4701-3p	HITS-CLIP	23824327
MIRT620946	hsa-miR-6736-5p	HITS-CLIP	23824327
MIRT620945	hsa-miR-6741-5p	HITS-CLIP	23824327
MIRT611773	hsa-miR-8485	HITS-CLIP	23824327
MIRT611772	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611771	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611770	hsa-miR-603	HITS-CLIP	23824327
MIRT611768	hsa-miR-6729-3p	HITS-CLIP	23824327
MIRT611769	hsa-miR-6780b-3p	HITS-CLIP	23824327
MIRT620949	hsa-miR-1284	HITS-CLIP	23824327
MIRT611767	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT611766	hsa-miR-3941	HITS-CLIP	23824327
MIRT611765	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT630202	hsa-miR-4436b-5p	HITS-CLIP	23824327
MIRT611764	hsa-miR-337-3p	HITS-CLIP	23824327
MIRT630201	hsa-miR-202-5p	HITS-CLIP	23824327
MIRT611773	hsa-miR-8485	HITS-CLIP	23824327
MIRT611772	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611771	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611770	hsa-miR-603	HITS-CLIP	23824327
MIRT611768	hsa-miR-6729-3p	HITS-CLIP	23824327
MIRT611769	hsa-miR-6780b-3p	HITS-CLIP	23824327
MIRT620949	hsa-miR-1284	HITS-CLIP	23824327
MIRT611767	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT611766	hsa-miR-3941	HITS-CLIP	23824327
MIRT611765	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT611773	hsa-miR-8485	HITS-CLIP	23824327
MIRT611768	hsa-miR-6729-3p	HITS-CLIP	23824327
MIRT611769	hsa-miR-6780b-3p	HITS-CLIP	23824327
MIRT611767	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT611773	hsa-miR-8485	HITS-CLIP	23824327
MIRT611772	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611771	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611770	hsa-miR-603	HITS-CLIP	23824327
MIRT611768	hsa-miR-6729-3p	HITS-CLIP	23824327
MIRT611769	hsa-miR-6780b-3p	HITS-CLIP	23824327
MIRT620949	hsa-miR-1284	HITS-CLIP	23824327
MIRT611767	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT611766	hsa-miR-3941	HITS-CLIP	23824327
MIRT611765	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT630202	hsa-miR-4436b-5p	HITS-CLIP	23824327
MIRT611764	hsa-miR-337-3p	HITS-CLIP	23824327
MIRT630201	hsa-miR-202-5p	HITS-CLIP	23824327
MIRT611773	hsa-miR-8485	HITS-CLIP	23824327
MIRT611772	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611771	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611770	hsa-miR-603	HITS-CLIP	23824327
MIRT611768	hsa-miR-6729-3p	HITS-CLIP	23824327
MIRT611769	hsa-miR-6780b-3p	HITS-CLIP	23824327
MIRT620949	hsa-miR-1284	HITS-CLIP	23824327
MIRT611767	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT611766	hsa-miR-3941	HITS-CLIP	23824327
MIRT611765	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT611764	hsa-miR-337-3p	HITS-CLIP	23824327
MIRT611773	hsa-miR-8485	HITS-CLIP	23824327
MIRT611772	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611771	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611770	hsa-miR-603	HITS-CLIP	23824327
MIRT611768	hsa-miR-6729-3p	HITS-CLIP	23824327
MIRT611769	hsa-miR-6780b-3p	HITS-CLIP	23824327
MIRT620949	hsa-miR-1284	HITS-CLIP	23824327
MIRT611767	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT611766	hsa-miR-3941	HITS-CLIP	23824327
MIRT611765	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT611773	hsa-miR-8485	HITS-CLIP	23824327
MIRT611772	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611771	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611770	hsa-miR-603	HITS-CLIP	23824327
MIRT611768	hsa-miR-6729-3p	HITS-CLIP	23824327
MIRT611769	hsa-miR-6780b-3p	HITS-CLIP	23824327
MIRT620949	hsa-miR-1284	HITS-CLIP	23824327
MIRT611767	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT611766	hsa-miR-3941	HITS-CLIP	23824327
MIRT611765	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT611764	hsa-miR-337-3p	HITS-CLIP	23824327
MIRT620948	hsa-miR-1262	HITS-CLIP	23824327
MIRT620947	hsa-miR-4701-3p	HITS-CLIP	23824327
MIRT620946	hsa-miR-6736-5p	HITS-CLIP	23824327
MIRT620945	hsa-miR-6741-5p	HITS-CLIP	23824327
MIRT611773	hsa-miR-8485	HITS-CLIP	23824327
MIRT611772	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611771	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611770	hsa-miR-603	HITS-CLIP	23824327
MIRT611768	hsa-miR-6729-3p	HITS-CLIP	23824327
MIRT611769	hsa-miR-6780b-3p	HITS-CLIP	23824327
MIRT611767	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT611766	hsa-miR-3941	HITS-CLIP	23824327
MIRT611765	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT611764	hsa-miR-337-3p	HITS-CLIP	23824327
MIRT611773	hsa-miR-8485	HITS-CLIP	23824327
MIRT611772	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611771	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611770	hsa-miR-603	HITS-CLIP	23824327
MIRT611768	hsa-miR-6729-3p	HITS-CLIP	23824327
MIRT611769	hsa-miR-6780b-3p	HITS-CLIP	23824327
MIRT620949	hsa-miR-1284	HITS-CLIP	23824327
MIRT611767	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT611766	hsa-miR-3941	HITS-CLIP	23824327
MIRT611765	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT630202	hsa-miR-4436b-5p	HITS-CLIP	23824327
MIRT611764	hsa-miR-337-3p	HITS-CLIP	23824327
MIRT630201	hsa-miR-202-5p	HITS-CLIP	23824327
MIRT620948	hsa-miR-1262	HITS-CLIP	23824327
MIRT620947	hsa-miR-4701-3p	HITS-CLIP	23824327
MIRT620946	hsa-miR-6736-5p	HITS-CLIP	23824327
MIRT620945	hsa-miR-6741-5p	HITS-CLIP	23824327
MIRT611773	hsa-miR-8485	HITS-CLIP	23824327
MIRT611772	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611771	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611770	hsa-miR-603	HITS-CLIP	23824327
MIRT611768	hsa-miR-6729-3p	HITS-CLIP	23824327
MIRT611769	hsa-miR-6780b-3p	HITS-CLIP	23824327
MIRT620949	hsa-miR-1284	HITS-CLIP	23824327
MIRT611767	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT611766	hsa-miR-3941	HITS-CLIP	23824327
MIRT611765	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT630202	hsa-miR-4436b-5p	HITS-CLIP	23824327
MIRT611764	hsa-miR-337-3p	HITS-CLIP	23824327
MIRT630201	hsa-miR-202-5p	HITS-CLIP	23824327
MIRT611773	hsa-miR-8485	HITS-CLIP	23824327
MIRT611772	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611771	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611770	hsa-miR-603	HITS-CLIP	23824327
MIRT611768	hsa-miR-6729-3p	HITS-CLIP	23824327
MIRT611769	hsa-miR-6780b-3p	HITS-CLIP	23824327
MIRT620949	hsa-miR-1284	HITS-CLIP	23824327
MIRT611767	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT611766	hsa-miR-3941	HITS-CLIP	23824327
MIRT611765	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT611773	hsa-miR-8485	HITS-CLIP	23824327
MIRT611768	hsa-miR-6729-3p	HITS-CLIP	23824327
MIRT611769	hsa-miR-6780b-3p	HITS-CLIP	23824327
MIRT611767	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT611773	hsa-miR-8485	HITS-CLIP	23824327
MIRT611772	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611771	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611770	hsa-miR-603	HITS-CLIP	23824327
MIRT611768	hsa-miR-6729-3p	HITS-CLIP	23824327
MIRT611769	hsa-miR-6780b-3p	HITS-CLIP	23824327
MIRT620949	hsa-miR-1284	HITS-CLIP	23824327
MIRT611767	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT611766	hsa-miR-3941	HITS-CLIP	23824327
MIRT611765	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT630202	hsa-miR-4436b-5p	HITS-CLIP	23824327
MIRT611764	hsa-miR-337-3p	HITS-CLIP	23824327
MIRT630201	hsa-miR-202-5p	HITS-CLIP	23824327
MIRT611773	hsa-miR-8485	HITS-CLIP	23824327
MIRT611772	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611771	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611770	hsa-miR-603	HITS-CLIP	23824327
MIRT611768	hsa-miR-6729-3p	HITS-CLIP	23824327
MIRT611769	hsa-miR-6780b-3p	HITS-CLIP	23824327
MIRT620949	hsa-miR-1284	HITS-CLIP	23824327
MIRT611767	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT611766	hsa-miR-3941	HITS-CLIP	23824327
MIRT611765	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT611764	hsa-miR-337-3p	HITS-CLIP	23824327
MIRT611773	hsa-miR-8485	HITS-CLIP	23824327
MIRT611772	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611771	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611770	hsa-miR-603	HITS-CLIP	23824327
MIRT611768	hsa-miR-6729-3p	HITS-CLIP	23824327
MIRT611769	hsa-miR-6780b-3p	HITS-CLIP	23824327
MIRT620949	hsa-miR-1284	HITS-CLIP	23824327
MIRT611767	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT611766	hsa-miR-3941	HITS-CLIP	23824327
MIRT611765	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT611773	hsa-miR-8485	HITS-CLIP	23824327
MIRT611772	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611771	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611770	hsa-miR-603	HITS-CLIP	23824327
MIRT611768	hsa-miR-6729-3p	HITS-CLIP	23824327
MIRT611769	hsa-miR-6780b-3p	HITS-CLIP	23824327
MIRT620949	hsa-miR-1284	HITS-CLIP	23824327
MIRT611767	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT611766	hsa-miR-3941	HITS-CLIP	23824327
MIRT611765	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT611764	hsa-miR-337-3p	HITS-CLIP	23824327
MIRT620948	hsa-miR-1262	HITS-CLIP	23824327
MIRT620947	hsa-miR-4701-3p	HITS-CLIP	23824327
MIRT620946	hsa-miR-6736-5p	HITS-CLIP	23824327
MIRT620945	hsa-miR-6741-5p	HITS-CLIP	23824327
MIRT611773	hsa-miR-8485	HITS-CLIP	23824327
MIRT611772	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611771	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611770	hsa-miR-603	HITS-CLIP	23824327
MIRT611768	hsa-miR-6729-3p	HITS-CLIP	23824327
MIRT611769	hsa-miR-6780b-3p	HITS-CLIP	23824327
MIRT611767	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT611766	hsa-miR-3941	HITS-CLIP	23824327
MIRT611765	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT611764	hsa-miR-337-3p	HITS-CLIP	23824327
MIRT1414192	hsa-miR-203	CLIP-seq
MIRT1414193	hsa-miR-4424	CLIP-seq
MIRT1414194	hsa-miR-3120-5p	CLIP-seq
MIRT1414195	hsa-miR-3169	CLIP-seq
MIRT1414196	hsa-miR-4700-3p	CLIP-seq
MIRT1414197	hsa-miR-4802-5p	CLIP-seq
MIRT1414198	hsa-miR-765	CLIP-seq
MIRT1414194	hsa-miR-3120-5p	CLIP-seq
MIRT2440920	hsa-miR-1208	CLIP-seq
MIRT2440921	hsa-miR-3647-3p	CLIP-seq
MIRT2440922	hsa-miR-3653	CLIP-seq
MIRT2440923	hsa-miR-3658	CLIP-seq
MIRT2440924	hsa-miR-4291	CLIP-seq
MIRT2440925	hsa-miR-545	CLIP-seq

Show/Hide all (19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004672	Function	Protein kinase activity	IEA
GO:0004672	Function	Protein kinase activity	NAS	12471243
GO:0005096	Function	GTPase activator activity	IBA
GO:0005515	Function	Protein binding	IPI	26496610, 37267906
GO:0005524	Function	ATP binding	IEA
GO:0005524	Function	ATP binding	NAS	12471243
GO:0005737	Component	Cytoplasm	IDA	24576458
GO:0005737	Component	Cytoplasm	IEA
GO:0005768	Component	Endosome	IEA
GO:0005769	Component	Early endosome	IEA
GO:0005819	Component	Spindle	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0006468	Process	Protein phosphorylation	NAS	12471243
GO:0008283	Process	Cell population proliferation	IMP	23977024
GO:0030036	Process	Actin cytoskeleton organization	IMP	23977024
GO:0030496	Component	Midbody	IDA	24576458
GO:0030496	Component	Midbody	IEA
GO:0032006	Process	Regulation of TOR signaling	IMP	23977024
GO:0072686	Component	Mitotic spindle	IDA	24576458

MIM	HGNC	e!Ensembl
616899	28261	ENSG00000145348

Q8TEA7

Protein name

TBC domain-containing protein kinase-like protein (FERRY endosomal RAB5 effector complex subunit 1) (Fy-1)

Protein function

Component of the FERRY complex (Five-subunit Endosomal Rab5 and RNA/ribosome intermediary) (PubMed:37267905). The FERRY complex directly interacts with mRNAs and RAB5A, and functions as a RAB5A effector involved in the localization and the distr

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00069	Pkinase	32 → 273	Protein kinase domain	Domain
PF00566	RabGAP-TBC	470 → 671	Rab-GTPase-TBC domain	Family
PF00581	Rhodanese	784 → 883	Rhodanese-like domain	Domain

Sequence

MFPLKDAEMGAFTFFASALPHDVCGSNGLPLTPNSIKILGRFQILKTITHPRLCQYVDIS
RGKHERLVVVAEHCERSLEDLLRERKPVSCSTVLCIAFEVLQGLQYMNKHGIVHRALSPH
NILLDRKGHIKLAKFGLYHMTAHGDDVDFPIGYPSYLAPEVIAQGIFKTTDHMPSKKPLP
SGPKSDVWSLGIILFELCVGRKLFQSLDISERLKFLLTLDCVDDTLIVLAEEHGCLDIIK
ELPETVIDLLNKCLTFHPSKRPTPDQLMKDKVFSEVSPLYTPFTKPASLFSSSLRCADLT
LPEDISQLCKDINNDYLAERSIEEVYYLWCLAGGDLEKELVNKEIIRSKPPICTLPNFLF
EDGESFGQGRDRSSLLDDTTVTLSLCQLRNRLKDVGGEAFYPLLEDDQSNLPHSNSNNEL
SAAATLPLIIREKDTEYQLNRIILFDRLLKAYPYKKNQIWKEARVDIPPLMRGLTWAALL
GVEGAIHAKYDAIDKDTPIPTDRQIEVDIPRCHQYDELLSSPEGHAKFRRVLKAWVVSHP
DLVYWQGLDSLCAPFLYLNFNNEALAYACMSAFIPKYLYNFFLKDNSHVIQEYLTVFSQM
IAFHDPELSNHLNEIGFIPDLYAIPWFLTMFTHVFPLHKIFHLWDTLLLGNSSFPFCIGV
AILQQLRDRLLANGFNECILLFSDLPEIDIERCVRESINLFCWTPKSATYRQHAQPPKPS
SDSSGGRSSAPYFSAECPDPPKTDLSRESIPLNDLKSEVSPRISAEDLIDLCELTVTGHF
KTPSKKTKSSKPKLLVVDIRNSEDFIRGHISGSINIPFSAAFTAEGELTQGPYTAMLQNF
KGKVIVIVGHVAKHTAEFAAHLVKMKYPRICILDGGINKIKPTGLLTIPSPQI

Sequence length

893

Interactions

View interactions

175

Show/Hide Causal Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the nervous system	Likely pathogenic; Pathogenic	rs763057505, rs374319146	RCV001814557 RCV001814075
Colon adenocarcinoma	Pathogenic	rs374319146	RCV005888593
Global developmental delay	Pathogenic	rs762552974	RCV001775126
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1	Pathogenic	rs771481304	RCV005625451
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	Likely pathogenic; Pathogenic	rs1560911619, rs1762560983, rs759892467, rs763057505, rs2150053706, rs775034792, rs2150010400, rs2150010260, rs2149737591, rs1750962854, rs778000956, rs903296221, rs774755464, rs2149518765, rs1174436721 View all (38 more)	RCV001336265 RCV001336264 RCV005253853 RCV004728762 RCV001544498 RCV005253877 RCV001783850 RCV005253891 RCV001789736 RCV001789737 RCV005253892 RCV004597558 RCV005253919 RCV005253985 RCV005254003 RCV005254032 RCV002243591 RCV005254046 RCV000210876 RCV005254112 RCV005254137 RCV005254645 RCV005254660 RCV005254667 RCV005254678 RCV005869985 RCV000210864 RCV000210872 RCV000210868 RCV000210871 RCV000210878 RCV000210867 RCV003226079 RCV003326682 RCV003319599 RCV005414297 RCV000760981 RCV005252929 RCV001782988 RCV000708587 RCV000714764 RCV003985427 RCV000787949 RCV000791282 RCV000991424 RCV001199280 RCV001251176 RCV001253781 RCV001255209 RCV001255613 RCV001264817 RCV005253779 RCV005253778 RCV002471074
Intellectual disability	Pathogenic	rs577030895	RCV001260819
Neurodevelopmental disorder	Pathogenic	rs1579395680	RCV000787364
Ovarian serous cystadenocarcinoma	Likely pathogenic; Pathogenic	rs62321379	RCV005893881
Syndromic Infantile Encephalopathy	Pathogenic	rs575822089, rs376699648	RCV000755061 RCV000755062
TBCK-related disorder	Likely pathogenic; Pathogenic	rs2150053706, rs775034792, rs376699648, rs2467608578	RCV004741031 RCV004741065 RCV003335232 RCV004554122

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs45462491	RCV005909429
Adrenocortical carcinoma, hereditary	Benign	rs34961213	RCV005912960
Familial cancer of breast	Benign	rs56317078	RCV005911554
Gastric cancer	Benign	rs45462491, rs56317078	RCV005909431 RCV005911556
Malignant lymphoma, large B-cell, diffuse	Benign	rs34961213	RCV005912961
Malignant tumor of esophagus	Benign	rs56317078	RCV005911555
Sarcoma	Benign	rs45462491	RCV005909430
Thymoma	Benign	rs45462491	RCV005909433
Uterine carcinosarcoma	Benign; Likely benign	rs34961213, rs146794366	RCV005912962 RCV005924131

Show/Hide Text Mining Associations (34)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alcohol Related Disorders	Associate	36317458
Angiofibroma	Associate	27633981
Brain Diseases	Associate	27040692, 29283439, 33001864
Central Nervous System Vascular Malformations	Associate	32363625
Cognition Disorders	Associate	32363625
COVID 19	Associate	38327202
Death	Associate	30591081
Developmental Disabilities	Associate	30591081, 32363625
Diastrophic dysplasia	Inhibit	30591081
Dyslipidemias	Associate	29283439
Epilepsy	Associate	29283439, 30591081
Facial Dysmorphism with Multiple Malformations	Associate	27040691
Hand Foot and Mouth Disease	Associate	32990841
Infant Newborn Diseases	Associate	27040692
Infantile Epileptic Dyskinetic Encephalopathy	Associate	27040692
Intellectual Disability	Associate	27040691, 29283439, 30591081, 37876076
Kidney Neoplasms	Associate	31331056
Leukoencephalopathies	Associate	29283439
Lysosomal Storage Diseases	Associate	29283439, 30591081
Microphthalmia Syndromic 10	Associate	27040691
Muscle Hypotonia	Associate	27040691, 29283439, 30591081, 32363625, 36317458, 37876076
Muscular Atrophy Spinal	Associate	29283439
Muscular Diseases	Associate	32363625
Neurodegenerative Diseases	Associate	29283439
Neurofibromatosis Noonan syndrome	Associate	36317458
Neuronal Ceroid Lipofuscinoses	Associate	30591081
Osteoporosis	Associate	29283439
Pathological Conditions Anatomical	Associate	33001864
Peripheral Nervous System Diseases	Associate	29283439
Psychomotor Disorders	Associate	32363625, 36317458
Pyruvate Kinase Deficiency of Red Cells	Inhibit	30591081
Seizures	Associate	32363625
Thakker Donnai syndrome	Associate	32363625
Tic Disorders	Associate	30591081

TBCK (TBC1 domain containing kinase)