SPEG (striated muscle enriched protein kinase)

Gene

• Entrez ID: 10290
• Gene name: Striated muscle enriched protein kinase
• Gene symbol: SPEG
• Synonyms (NCBI Gene): APEG-1, APEG1, BPEG, CNM5, MYLK6, SPEGalpha, SPEGbeta
• Chromosome: 2
• Chromosome location: 2q35
• Summary: 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

SNPs

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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
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

Gene ontology (GO)

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

Other IDs

• MIM: 615950
• HGNC: 16901
• e!Ensembl: 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

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Myopathy, centronuclear, 5	Pathogenic; Likely pathogenic	rs768300296, rs587777672, rs587777673, rs587777674, rs587777675, rs1392086265, rs764429761, rs2545945941, rs1693624356, rs763704831, rs759644676, rs1575065895, rs1575201712	RCV003989738 RCV000133589 RCV000133590 RCV000133591 RCV000133592 RCV005631031 RCV002810024 RCV003493245 RCV003494515 RCV004560510 RCV004587905 RCV001004856 RCV001004855
SPEG-related congenital myopathy	Likely pathogenic	rs756056441, rs2545460807	RCV004587478 RCV004587607
SPEG-related disorder	Pathogenic	rs2545867076	RCV004731551

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Autosomal dominant centronuclear myopathy	Uncertain significance	rs201170917	RCV002508949
Cervical cancer	Benign; Likely benign	rs35665419, rs61743627, rs150628707	RCV005902528 RCV005904425 RCV005907366
Cholangiocarcinoma	Benign	rs13026308	RCV005919689
Clear cell carcinoma of kidney	Benign	rs61743627	RCV005904426
Malignant tumor of urinary bladder	Benign; Likely benign	rs62191887	RCV005902648
Myopathy, centronuclear, 2	Uncertain significance	rs1376293618	RCV003883698
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs150628707	RCV005907367
Sarcoma	Benign; Likely benign	rs146216760, rs35665419, rs61743627	RCV005903307 RCV005902529 RCV005904427
Squamous cell carcinoma of the head and neck	Benign	rs55692495	RCV005916554
Thymoma	Benign	rs55692495	RCV005916556
Uterine carcinosarcoma	Benign	rs55692495, rs13026308	RCV005916555 RCV005919688
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs55692495, rs35665419	RCV005916557 RCV005902530

Associations from Text Mining
Disease Name	Relationship Type	References
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