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	7681
Gene name	Makorin ring finger protein 3
Gene symbol	MKRN3
Synonyms (NCBI Gene)	CPPB2D15S9RNF63ZFP127ZNF127
Chromosome	15
Chromosome location	15q11.2
Summary	The protein encoded by this gene contains a RING (C3HC4) zinc finger motif and several C3H zinc finger motifs. This gene is intronless and imprinted, with expression only from the paternal allele. Disruption of the imprinting at this locus may contribute

Show/Hide all (8)

SNP ID	Visualize variation	Clinical significance	Consequence
rs763195944	C>-,CC	Pathogenic	Frameshift variant, coding sequence variant
rs879255238	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs879255239	->A	Pathogenic	Coding sequence variant, stop gained
rs879255240	G>C,T	Pathogenic	Coding sequence variant, missense variant
rs1264639964	C>T	Pathogenic	Missense variant, coding sequence variant
rs1555370456	AG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1566764505	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1595298328	->GGAGGCC	Likely-pathogenic	Coding sequence variant, frameshift variant

Show/Hide all (57)

miRTarBase ID	miRNA	Experiments	Reference
MIRT530277	hsa-miR-548ac	PAR-CLIP	22012620
MIRT530276	hsa-miR-548bb-3p	PAR-CLIP	22012620
MIRT530275	hsa-miR-548d-3p	PAR-CLIP	22012620
MIRT530274	hsa-miR-548h-3p	PAR-CLIP	22012620
MIRT530273	hsa-miR-548z	PAR-CLIP	22012620
MIRT530272	hsa-miR-548ae-3p	PAR-CLIP	22012620
MIRT530271	hsa-miR-548ah-3p	PAR-CLIP	22012620
MIRT530270	hsa-miR-548aj-3p	PAR-CLIP	22012620
MIRT530269	hsa-miR-548am-3p	PAR-CLIP	22012620
MIRT530268	hsa-miR-548aq-3p	PAR-CLIP	22012620
MIRT530267	hsa-miR-548j-3p	PAR-CLIP	22012620
MIRT530266	hsa-miR-548x-3p	PAR-CLIP	22012620
MIRT530265	hsa-miR-6516-3p	PAR-CLIP	22012620
MIRT192229	hsa-miR-30e-5p	PAR-CLIP	22291592
MIRT192226	hsa-miR-30c-5p	PAR-CLIP	22291592
MIRT192228	hsa-miR-30b-5p	PAR-CLIP	22291592
MIRT192224	hsa-miR-30a-5p	PAR-CLIP	22291592
MIRT192227	hsa-miR-30d-5p	PAR-CLIP	22291592
MIRT498132	hsa-miR-4704-5p	PAR-CLIP	22291592
MIRT498131	hsa-miR-545-5p	PAR-CLIP	22291592
MIRT498130	hsa-miR-222-5p	PAR-CLIP	22291592
MIRT530277	hsa-miR-548ac	PAR-CLIP	22012620
MIRT530276	hsa-miR-548bb-3p	PAR-CLIP	22012620
MIRT530275	hsa-miR-548d-3p	PAR-CLIP	22012620
MIRT530274	hsa-miR-548h-3p	PAR-CLIP	22012620
MIRT530273	hsa-miR-548z	PAR-CLIP	22012620
MIRT530272	hsa-miR-548ae-3p	PAR-CLIP	22012620
MIRT530271	hsa-miR-548ah-3p	PAR-CLIP	22012620
MIRT530270	hsa-miR-548aj-3p	PAR-CLIP	22012620
MIRT530269	hsa-miR-548am-3p	PAR-CLIP	22012620
MIRT530268	hsa-miR-548aq-3p	PAR-CLIP	22012620
MIRT530267	hsa-miR-548j-3p	PAR-CLIP	22012620
MIRT530266	hsa-miR-548x-3p	PAR-CLIP	22012620
MIRT530265	hsa-miR-6516-3p	PAR-CLIP	22012620
MIRT192229	hsa-miR-30e-5p	PAR-CLIP	22291592
MIRT192226	hsa-miR-30c-5p	PAR-CLIP	22291592
MIRT192228	hsa-miR-30b-5p	PAR-CLIP	22291592
MIRT192224	hsa-miR-30a-5p	PAR-CLIP	22291592
MIRT192227	hsa-miR-30d-5p	PAR-CLIP	22291592
MIRT498132	hsa-miR-4704-5p	PAR-CLIP	22291592
MIRT498131	hsa-miR-545-5p	PAR-CLIP	22291592
MIRT498130	hsa-miR-222-5p	PAR-CLIP	22291592
MIRT1150475	hsa-miR-30a	CLIP-seq
MIRT1150476	hsa-miR-30b	CLIP-seq
MIRT1150477	hsa-miR-30c	CLIP-seq
MIRT1150478	hsa-miR-30d	CLIP-seq
MIRT1150479	hsa-miR-30e	CLIP-seq
MIRT1150480	hsa-miR-3614-5p	CLIP-seq
MIRT1150481	hsa-miR-4495	CLIP-seq
MIRT1150482	hsa-miR-4789-5p	CLIP-seq
MIRT1150483	hsa-miR-548ae	CLIP-seq
MIRT1150484	hsa-miR-548aj	CLIP-seq
MIRT1150485	hsa-miR-548am	CLIP-seq
MIRT1150486	hsa-miR-548x	CLIP-seq
MIRT1150487	hsa-miR-944	CLIP-seq
MIRT1150487	hsa-miR-944	CLIP-seq
MIRT2272493	hsa-miR-549	CLIP-seq

Show/Hide all (16)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000209	Process	Protein polyubiquitination	IEA
GO:0000209	Process	Protein polyubiquitination	ISS
GO:0003723	Function	RNA binding	ISS
GO:0005515	Function	Protein binding	IPI	19549727, 21516116, 22046132, 22493164, 24722188, 25416956, 25910212, 26871637, 27107012, 31515488, 32296183, 32814053, 36217029
GO:0005634	Component	Nucleus	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0016567	Process	Protein ubiquitination	IBA
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0042802	Function	Identical protein binding	IPI	22493164, 25416956, 32296183
GO:0046872	Function	Metal ion binding	IEA
GO:0061630	Function	Ubiquitin protein ligase activity	IBA
GO:0061630	Function	Ubiquitin protein ligase activity	IEA
GO:0061630	Function	Ubiquitin protein ligase activity	ISS
GO:1990904	Component	Ribonucleoprotein complex	ISS
GO:1990904	Component	Ribonucleoprotein complex	TAS	10196367

MIM	HGNC	e!Ensembl
603856	7114	ENSG00000179455

Q13064

Protein name

E3 ubiquitin-protein ligase makorin-3 (EC 2.3.2.27) (RING finger protein 63) (RING-type E3 ubiquitin transferase makorin-3) (Zinc finger protein 127)

Protein function

E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins. Acts as a key developmental timer that helps ensure puberty begins at the appropriate age, by inhibiting premature activation of the reproducti

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF18044	zf-CCCH_4	99 → 120	CCCH-type zinc finger	Domain
PF14608	zf-CCCH_2	244 → 263		Domain
PF00097	zf-C3HC4	311 → 364	Zinc finger, C3HC4 type (RING finger)	Domain
PF14608	zf-CCCH_2	399 → 420		Domain
PF15815	MKRN1_C	422 → 507	E3 ubiquitin-protein ligase makorin, C-terminal	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:10196367}.

Sequence

MEEPAAPSEAHEAAGAQAGAEAAREGVSGPDLPVCEPSGESAAPDSALPHAARGWAPFPV
APVPAHLRRGGLRPAPASGGGAWPSPLPSRSSGIWTKQIICRYYIHGQCKEGENCRYSHD
LSGRKMATEGGVSPPGASAGGGPSTAAHIEPPTQEVAEAPPAASSLSLPVIGSAAERGFF
EAERDNADRGAAGGAGVESWADAIEFVPGQPYRGRWVASAPEAPLQSSETERKQMAVGSG
LRFCYYASRGVCFRGESCMYLHGDICDMCGLQTLHPMDAAQREEHMRACIEAHEKDMELS
FAVQRGMDKVCGICMEVVYEKANPNDRRFGILSNCNHSFCIRCIRRWRSARQFENRIVKS
CPQCRVTSELVIPSEFWVEEEEEKQKLIQQYKEAMSNKACRYFAEGRGNCPFGDTCFYKH
EYPEGWGDEPPGPGGGSFSAYWHQLVEPVRMGEGNMLYKSIKKELVVLRLASLLFKRFLS
LRDELPFSEDQWDLLHYELEEYFNLIL

Sequence length

507

Interactions

View interactions

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)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
MKRN3-related disorder	Likely pathogenic	rs766690218	RCV003900792	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Precocious puberty, central, 2	Pathogenic; Likely pathogenic	rs763195944, rs1264639964, rs1566764505, rs879255238, rs879255239, rs879255240	RCV003142246 RCV000505267 RCV000766215 RCV000050238 RCV000050239 RCV000050240 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
CENTRAL PRECOCIOUS PUBERTY 2	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRADER-WILLI SYNDROME	—	CTD, ClinVar, Disgenet, HPO CTD, ClinVar, Disgenet, HPO CTD, ClinVar, Disgenet, HPO CTD, ClinVar, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (45)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acromicria	Acromicria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Acromicric Dysplasia	Acromicric Dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Angelman Syndrome	Angelman Syndrome	BEFREE	8094063, 8178815, 8266996, 8641697, 8669440, 8929945		★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	24239951		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	27225315	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Central Precocious Puberty	Central Precocious Puberty	BEFREE	23738509, 25011910, 25116033, 25316453, 25938887, 25957321, 26173472, 26331766, 26431553, 27225315, 27424312, 27640350, 27798941, 28299573, 29537379 View all (6 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Central Precocious Puberty	Central Precocious Puberty	CTD_human_DG	23738509		★★★★★ ★☆☆☆☆ Found in Text Mining only
Choroid Plexus Papilloma	Choroid Plexus Papilloma	BEFREE	24438377, 24628548, 25011910, 25116033, 25938887, 25957321, 26173472, 26499472, 27225315, 27424312, 28324015, 28672280, 28988223, 29156706, 29763903, 30269125, 30806524, 31671431 View all (3 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly	Clinodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	35930274	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Kallmann Syndrome	Kallmann syndrome	Pubtator	31628846	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Maple Syrup Urine Disease	Maple Syrup Urine Disease	BEFREE	29703985		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	39217334	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	32957387, 36728292	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity Abdominal	Obesity	Pubtator	36728292	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	31671431		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prader-Willi Syndrome	Prader-Willi Syndrome	BEFREE	10196367, 10196368, 10740202, 11779183, 12736119, 19066619, 23738509, 2568752, 25957321, 26499472, 8242060, 8266996, 8641697, 8755930, 9590284		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prader-Willi Syndrome	Prader-Willi Syndrome	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Precocious pubarche	Precocious Pubarche	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Precocious Puberty	Precocious puberty	CTD_human_DG	23738509		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precocious Puberty	Precocious puberty	BEFREE	24438377, 26331766, 29537379, 30053798		★★★★★ ★☆☆☆☆ Found in Text Mining only
PRECOCIOUS PUBERTY, CENTRAL, 2	Precocious puberty	UNIPROT_DG	23738509, 24438377, 24628548, 25011910, 25316453		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PRECOCIOUS PUBERTY, CENTRAL, 2	Precocious puberty	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary physiologic amenorrhea	Physiologic Amenorrhea	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Royer Syndrome	Royer Syndrome	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Apnea Syndromes	Sleep Apnea	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Somatotropin deficiency	Somatotropin Deficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Testotoxicosis	Testotoxicosis	CTD_human_DG	23738509		★★★★★ ★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	1981180		★★★★★ ★☆☆☆☆ Found in Text Mining only

MKRN3 (makorin ring finger protein 3)