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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	10290
Gene name Gene Name - the full gene name approved by the HGNC.	Striated muscle enriched protein kinase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	SPEG
Synonyms (NCBI Gene) Gene synonyms aliases	APEG-1, APEG1, BPEG, CNM5, MYLK6, SPEGalpha, SPEGbeta
Chromosome Chromosome number	2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	2q35
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a protein with similarity to members of the myosin light chain kinase family. This protein family is required for myocyte cytoskeletal development. Along with the desmin gene, expression of this gene may be controlled by the desmin locus

Show/Hide all(8)

SNP ID	Visualize variation	Clinical significance	Consequence
rs79386296	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant, genic downstream transcript variant
rs375370312	C>G,T	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, intron variant
rs529058423	C>T	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, intron variant, genic downstream transcript variant
rs565137573	T>C	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, intron variant, missense variant, coding sequence variant
rs587777673	C>G,T	Pathogenic	Genic downstream transcript variant, missense variant, 5 prime UTR variant, stop gained, non coding transcript variant, coding sequence variant
rs587777674	ACACAGTGTACGTGTCTGGGAAGTTCCCCGGGAGTG>-	Pathogenic	Splice donor variant, genic downstream transcript variant, intron variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant
rs587777675	CC>A	Pathogenic	Downstream transcript variant, genic downstream transcript variant, intron variant, genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant
rs1575065895	T>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant

Show/Hide all(43)

miRTarBase ID	miRNA	Experiments
MIRT1383685	hsa-miR-1193	CLIP-seq
MIRT1383686	hsa-miR-1912	CLIP-seq
MIRT1383687	hsa-miR-1915	CLIP-seq
MIRT1383688	hsa-miR-3192	CLIP-seq
MIRT1383689	hsa-miR-339-3p	CLIP-seq
MIRT1383690	hsa-miR-3689a-3p	CLIP-seq
MIRT1383691	hsa-miR-3689c	CLIP-seq
MIRT1383692	hsa-miR-3713	CLIP-seq
MIRT1383693	hsa-miR-4436a	CLIP-seq
MIRT1383694	hsa-miR-4446-3p	CLIP-seq
MIRT1383695	hsa-miR-4675	CLIP-seq
MIRT1383696	hsa-miR-4685-5p	CLIP-seq
MIRT1383697	hsa-miR-4728-5p	CLIP-seq
MIRT1383698	hsa-miR-4741	CLIP-seq
MIRT1383685	hsa-miR-1193	CLIP-seq
MIRT2337567	hsa-let-7a	CLIP-seq
MIRT2337568	hsa-let-7b	CLIP-seq
MIRT2337569	hsa-let-7c	CLIP-seq
MIRT2337570	hsa-let-7d	CLIP-seq
MIRT2337571	hsa-let-7e	CLIP-seq
MIRT2337572	hsa-let-7f	CLIP-seq
MIRT2337573	hsa-let-7g	CLIP-seq
MIRT2337574	hsa-let-7i	CLIP-seq
MIRT2337575	hsa-miR-202	CLIP-seq
MIRT2337576	hsa-miR-3183	CLIP-seq
MIRT2337577	hsa-miR-4458	CLIP-seq
MIRT2337578	hsa-miR-4500	CLIP-seq
MIRT2337579	hsa-miR-4723-3p	CLIP-seq
MIRT2337580	hsa-miR-98	CLIP-seq
MIRT2395019	hsa-miR-138	CLIP-seq
MIRT2395020	hsa-miR-4456	CLIP-seq
MIRT2395019	hsa-miR-138	CLIP-seq
MIRT2631104	hsa-miR-3654	CLIP-seq
MIRT2631105	hsa-miR-3655	CLIP-seq
MIRT1383692	hsa-miR-3713	CLIP-seq
MIRT2631106	hsa-miR-4459	CLIP-seq
MIRT2631107	hsa-miR-4520a-3p	CLIP-seq
MIRT2631108	hsa-miR-4638-3p	CLIP-seq
MIRT2631109	hsa-miR-4646-3p	CLIP-seq
MIRT2631110	hsa-miR-642a	CLIP-seq
MIRT2631105	hsa-miR-3655	CLIP-seq
MIRT2631109	hsa-miR-4646-3p	CLIP-seq
MIRT2631110	hsa-miR-642a	CLIP-seq

Show/Hide all(16)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0004672	Function	Protein kinase activity	IBA
GO:0004672	Function	Protein kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	8663449
GO:0007517	Process	Muscle organ development	IEA
GO:0007517	Process	Muscle organ development	TAS	8663449
GO:0008285	Process	Negative regulation of cell population proliferation	TAS	8663449
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0042692	Process	Muscle cell differentiation	IBA
GO:0106310	Function	Protein serine kinase activity	IEA

MIM	HGNC	e!Ensembl
615950	16901	ENSG00000072195

Protein

UniProt ID

Q15772

Protein name

Striated muscle preferentially expressed protein kinase (EC 2.7.11.1) (Aortic preferentially expressed protein 1) (APEG-1)

Protein function

Isoform 3 may have a role in regulating the growth and differentiation of arterial smooth muscle cells.

PDB

1U2H

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07679	I-set	43 → 125	Immunoglobulin I-set domain	Domain
PF07679	I-set	722 → 811	Immunoglobulin I-set domain	Domain
PF16650	SPEG_u2	812 → 868		Disordered
PF07679	I-set	869 → 959	Immunoglobulin I-set domain	Domain
PF07679	I-set	968 → 1058	Immunoglobulin I-set domain	Domain
PF07679	I-set	1064 → 1153	Immunoglobulin I-set domain	Domain
PF07679	I-set	1188 → 1277	Immunoglobulin I-set domain	Domain
PF07679	I-set	1390 → 1481	Immunoglobulin I-set domain	Domain
PF07679	I-set	1485 → 1574	Immunoglobulin I-set domain	Domain
PF00069	Pkinase	1601 → 1854	Protein kinase domain	Domain
PF07679	I-set	2584 → 2674	Immunoglobulin I-set domain	Domain
PF00069	Pkinase	2966 → 3218	Protein kinase domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Isoform 1 is preferentially expressed in striated muscle. Non-kinase form such as isoform 3 is predominantly expressed in the aorta. Isoform 3 appears to be expressed only in highly differentiated ASMC in normal vessel walls and down-r

Sequence

MQKARGTRGEDAGTRAPPSPGVPPKRAKVGAGGGAPVAVAGAPVFLRPLKNAAVCAGSDV
RLRVVVSGTPQPSLRWFRDGQLLPAPAPEPSCLWLRRCGAQDAGVYSCMAQNERGRASCE
AVLTVLEVGDSETAEDDISDVQGTQRLELRDDGAFSTPTGGSDTLVGTSLDTPPTSVTGT
SEEQVSWWGSGQTVLEQEAGSGGGTRRLPGSPRQAQATGAGPRHLGVEPLVRASRANLVG
ASWGSEDSLSVASDLYGSAFSLYRGRALSIHVSVPQSGLRREEPDLQPQLASEAPRRPAQ
PPPSKSALLPPPSPRVGKRSPPGPPAQPAATPTSPHRRTQEPVLPEDTTTEEKRGKKSKS
SGPSLAGTAESRPQTPLSEASGRLSALGRSPRLVRAGSRILDKLQFFEERRRSLERSDSP
PAPLRPWVPLRKARSLEQPKSERGAPWGTPGASQEELRAPGSVAERRRLFQQKAASLDER
TRQRSPASDLELRFAQELGRIRRSTSREELVRSHESLRATLQRAPSPREPGEPPLFSRPS
TPKTSRAVSPAAAQPPSPSSAEKPGDEPGRPRSRGPAGRTEPGEGPQQEVRRRDQFPLTR
SRAIQECRSPVPPPAADPPEARTKAPPGRKREPPAQAVRFLPWATPGLEGAAVPQTLEKN
RAGPEAEKRLRRGPEEDGPWGPWDRRGARSQGKGRRARPTSPELESSDDSYVSAGEEPLE
APVFEIPLQNVVVAPGADVLLKCIITANPPPQVSWHKDGSALRSEGRLLLRAEGERHTLL
LREARAADAGSYMATATNELGQATCAASLTVRPGGSTSPFSSPITSDEEYLSPPEEFPEP
GETWPRTPTMKPSPSQNRRSSDTGSKAPPTFKVSLMDQSVREGQDVIMSIRVQGEPKPVV
SWLRNRQPVRPDQRRFAEEAEGGLCRLRILAAERGDAGFYTCKAVNEYGARQCEARLEVR
AHPESRSLAVLAPLQDVDVGAGEMALFECLVAGPTDVEVDWLCRGRLLQPALLKCKMHFD
GRKCKLLLTSVHEDDSGVYTCKLSTAKDELTCSARLTVRPSLAPLFTRLLEDVEVLEGRA
ARFDCKISGTPPPVVTWTHFGCPMEESENLRLRQDGGLHSLHIAHVGSEDEGLYAVSAVN
THGQAHCSAQLYVEEPRTAASGPSSKLEKMPSIPEEPEQGELERLSIPDFLRPLQDLEVG
LAKEAMLECQVTGLPYPTISWFHNGHRIQSSDDRRMTQYRDVHRLVFPAVGPQHAGVYKS
VIANKLGKAACYAHLYVTDVVPGPPDGAPQVVAVTGRMVTLTWNPPRSLDMAIDPDSLTY
TVQHQVLGSDQWTALVTGLREPGWAATGLRKGVQHIFRVLSTTVKSSSKPSPPSEPVQLL
EHGPTLEEAPAMLDKPDIVYVVEGQPASVTVTFNHVEAQVVWRSCRGALLEARAGVYELS
QPDDDQYCLRICRVSRRDMGALTCTARNRHGTQTCSVTLELAEAPRFESIMEDVEVGAGE
TARFAVVVEGKPLPDIMWYKDEVLLTESSHVSFVYEENECSLVVLSTGAQDGGVYTCTAQ
NLAGEVSCKAELAVHSAQTAMEVEGVGEDEDHRGRRLSDFYDIHQEIGRGAFSYLRRIVE
RSSGLEFAAKFIPSQAKPKASARREARLLARLQHDCVLYFHEAFERRRGLVIVTELCTEE
LLERIARKPTVCESEIRAYMRQVLEGIHYLHQSHVLHLDVKPENLLVWDGAAGEQQVRIC
DFGNAQELTPGEPQYCQYGTPEFVAPEIVNQSPVSGVTDIWPVGVVAFLCLTGISPFVGE
NDRTTLMNIRNYNVAFEETTFLSLSREARGFLIKVLVQDRLRPTAEETLEHPWFKTQAKG
AEVSTDHLKLFLSRRRWQRSQISYKCHLVLRPIPELLRAPPERVWVTMPRRPPPSGGLSS
SSDSEEEELEELPSVPRPLQPEFSGSRVSLTDIPTEDEALGTPETGAATPMDWQEQGRAP
SQDQEAPSPEALPSPGQEPAAGASPRRGELRRGSSAESALPRAGPRELGRGLHKAASVEL
PQRRSPSPGATRLARGGLGEGEYAQRLQALRQRLLRGGPEDGKVSGLRGPLLESLGGRAR
DPRMARAASSEAAPHHQPPLENRGLQKSSSFSQGEAEPRGRHRRAGAPLEIPVARLGARR
LQESPSLSALSEAQPSSPARPSAPKPSTPKSAEPSATTPSDAPQPPAPQPAQDKAPEPRP
EPVRASKPAPPPQALQTLALPLTPYAQIIQSLQLSGHAQGPSQGPAAPPSEPKPHAAVFA
RVASPPPGAPEKRVPSAGGPPVLAEKARVPTVPPRPGSSLSSSIENLESEAVFEAKFKRS
RESPLSLGLRLLSRSRSEERGPFRGAEEEDGIYRPSPAGTPLELVRRPERSRSVQDLRAV
GEPGLVRRLSLSLSQRLRRTPPAQRHPAWEARGGDGESSEGGSSARGSPVLAMRRRLSFT
LERLSSRLQRSGSSEDSGGASGRSTPLFGRLRRATSEGESLRRLGLPHNQLAAQAGATTP
SAESLGSEASATSGSSAPGESRSRLRWGFSRPRKDKGLSPPNLSASVQEELGHQYVRSES
DFPPVFHIKLKDQVLLEGEAATLLCLPAACPAPHISWMKDKKSLRSEPSVIIVSCKDGRQ
LLSIPRAGKRHAGLYECSATNVLGSITSSCTVAVARVPGKLAPPEVPQTYQDTALVLWKP
GDSRAPCTYTLERRVDGESVWHPVSSGIPDCYYNVTHLPVGVTVRFRVACANRAGQGPFS
NSSEKVFVRGTQDSSAVPSAAHQEAPVTSRPARARPPDSPTSLAPPLAPAAPTPPSVTVS
PSSPPTPPSQALSSLKAVGPPPQTPPRRHRGLQAARPAEPTLPSTHVTPSEPKPFVLDTG
TPIPASTPQGVKPVSSSTPVYVVTSFVSAPPAPEPPAPEPPPEPTKVTVQSLSPAKEVVS
SPGSSPRSSPRPEGTTLRQGPPQKPYTFLEEKARGRFGVVRACRENATGRTFVAKIVPYA
AEGKRRVLQEYEVLRTLHHERIMSLHEAYITPRYLVLIAESCGNRELLCGLSDRFRYSED
DVATYMVQLLQGLDYLHGHHVLHLDIKPDNLLLAPDNALKIVDFGSAQPYNPQALRPLGH
RTGTLEFMAPEMVKGEPIGSATDIWGAGVLTYIMLSGRSPFYEPDPQETEARIVGGRFDA
FQLYPNTSQSATLFLRKVLSVHPWSRPSLQDCLAHPWLQDAYLMKLRRQTLTFTTNRLKE
FLGEQRRRRAEAATRHKVLLRSYPGGP

Sequence length

3267

Interactions

View interactions

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Myopathy	myopathy, centronuclear, 5	rs587777672, rs587777673, rs587777674, rs587777675, rs1575065895, rs1575201712	N/A

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Centronuclear Myopathy	autosomal recessive centronuclear myopathy	N/A	N/A	GenCC
Oligodendroglioma	Oligodendroglioma	N/A	N/A	GWAS

Show/Hide Text Mining Associations (18)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenocarcinoma Mucinous	Associate	37768171
Arthrogryposis	Associate	31625632
Atherosclerosis	Associate	15784173
Cardiomyopathies	Associate	29614691
Cardiomyopathy Dilated	Associate	29614691, 30412272, 32925938
Cardiomyopathy Dilated with Left Ventricular Noncompaction	Associate	35563595
Diabetes Mellitus Type 1	Associate	37130628
Isolated Noncompaction of the Ventricular Myocardium	Associate	35563595
Muscle Weakness	Associate	30412272, 31625632
Myopathies Structural Congenital	Associate	29614691, 30412272, 31625632, 35563595
Myotonia Congenita	Associate	29614691, 30412272
Nervous System Diseases	Associate	35563595
Neuromuscular Diseases	Associate	26578207
Ophthalmoplegia	Associate	30412272
Oropharyngeal Neoplasms	Associate	32600451
Pancreatic Neoplasms	Associate	37130628
Pseudomyxoma Peritonei	Associate	37768171
Pulmonary Arterial Hypertension	Associate	31625632

SPEG (striated muscle enriched protein kinase)