1. Gene
  2. MKRN3 - makorin ring finger protein 3 Gene

MKRN3 - makorin ring finger protein 3 Gene

Homo sapiens

Also known as CPPB2; D15S9; RNF63; ZFP127; ZNF127

Gene ID: 7681 | Gene type: protein coding

About MKRN3

Cytogenetic location: 15q11.2 Genomic coordinates (GRCh38): 15:23,565,674-23,568,044 (from NCBI)

This gene has 12 transcripts (splice variants), 73 orthologues, 2 paralogues and is associated with 3 phenotypes.

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 to Prader-Willi syndrome. An antisense RNA of unknown function has been found overlapping this gene. [provided by RefSeq, Jul 2008]

MKRN3 Products(1)

mRNA Protein Name
NM_005664.4 NP_005655.1 probable E3 ubiquitin-protein ligase makorin-3

MKRN3 Protein Structure

zf-C3HC4

zf-C3HC4: Zinc finger, C3HC4 type (RING finger) (311 - 364)

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  • 507 a.a.
Protein Preferred Names Protein Names

probable E3 ubiquitin-protein ligase makorin-3

RING finger protein 63

Related Diseases

Diseases Alias
Precocious Puberty, Central, 2

CPPB2

Central Precocious Puberty 2

Precocious Puberty, Central 2

Precocious Puberty, Central, Type 2

Idiopathic Central Precocious Puberty
Prader-Willi Syndrome

Prader-Labhart-Willi Syndrome

PWS

Willi-Prader Syndrome

Prader-Willi Syndrome Due To Translocation

Prader-Willi Syndrome Due To Imprinting Mutation

Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15

Prader Willi Syndrome

Upd(15)Mat

Central Precocious Puberty

Cpp

Gonadotropin-Dependant Precocious Puberty

Gonadotropin-Dependent Precocious Puberty

Precocious Puberty, Central

Precocious Puberty

Familial Precocious Puberty

Idiopathic Sexual Precocity

Sexual Precocity

Puberty Precocious

Cryptogenic Sexual Precocity

Angelman Syndrome

AS

Happy Puppet Syndrome

Happy Puppet Syndrome, Formerly

Puppetlike Syndrome

Temple Syndrome

Uniparental Disomy, Maternal, Chromosome 14

Temple Syndrome Due To Paternal 14q32.2 Microdeletion

Paternal Del(14)(Q32.2)

Temple Syndrome Due To Paternal 14q32.2 Hypomethylation

Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14

Upd(14)Mat

Precocious Puberty, Male-Limited

Testotoxicosis

Familial Male-Limited Precocious Puberty

Leydig Cell Adenoma, Somatic, With Precocious Puberty

FMPP

Familial Testotoxicosis

Sexual Precocity, Familial, Gonadotropin-Independent

Familial Gonadotropin-Independent Male-Limited Sexual Precocity

Male-Limited Precocious Puberty

Pubertas Praecox

Gonadotropin-Independent Familial Sexual Precocity

Testotoxicosis, Familial

Precocious Puberty, Male

Precocious Puberty, Male Limited

Familial Gonadotrophin-Independent Sexual Precocity

Gipp

Gonadotrophin-Independent Precocious Puberty

Precocious Pseudopuberty

Familial Male Precocious Puberty

Precocious Puberty In Males

Puberty, Precocious

Precocious Puberty

Schaaf-Yang Syndrome

Prader-Willi-Like Syndrome

Chitayat-Hall Syndrome

SHFYNG

Pwls

Magel2-Related Prader-Willi-Like Syndrome

Magel2-Related Pwls

Arthrogryposis, Distal, With Hypopituitarism, Mental Retardation, And Facial Anomalies

Distal Arthrogryposis With Hypopituitarism, Intellectual Disability And Facial A

Distal Arthrogryposis With Hypopituitarism, Intellectual Disability And Facial Anomalies

Pws Due To A Point Mutation

Pws Due To Point Mutation

Prader-Willi Syndrome Due To A Point Mutation

Prader-Willi Syndrome Due To Point Mutation

Pws-Like

Hypogonadotropic Hypogonadism

Klinefelter Syndrome

Klinefelter'S Syndrome

Xxy Syndrome

Xxy Trisomy

Hypogonadotropism

47, Xxy

Congenital Idiopathic Hypogonadotropic Hypogonadism

Isolated Congenital Gonadotropin Deficiency

47,Xxy Syndrome

47, Xxy Syndrome

Klinefelters Syndrome

Hypogonadism

Klinefelter Syndrome In Males

Klinefelter Syndrome, Unspecified

Klinefelter Syndrome Karyotype 47, Xxy

Chromosomal Disease

Chromosomal Disorders

Congenital Chromosomal Disease

Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies

Image Syndrome

IMAGE

Intrauterine Growth Retardation-Metaphyseal Dysplasia-Adrenal Hypoplasia Congenita-Genital Anomalies Syndrome

Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies

Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Abnormalities

Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies

Image Anomaly

Image Association

Fetal Growth Retardation

Pyle Metaphyseal Dysplasia

Esotropia

Convergence In Manifest Squint

Crossed Eyes

Internal Strabismus

Convergent Concomitant Strabismus

Convergent Squint

Convergent Strabismus

Cross-Eye

Kagami-Ogata Syndrome

Paternal Uniparental Disomy Of Chromosome 14

Uniparental Disomy, Paternal, Chromosome 14

Kos

Mca Due To 14q32.2 Maternally Expressed Gene Defect

Paternal Uniparental Disomy 14

Kagami-Ogata Syndrome Due To Maternal 14q32.2 Microdeletion

Maternal Del(14)(Q32.2)

Maternal Monosomy 14q32.2

Kagami-Ogata Syndrome Due To Maternal 14q32.2 Hypermethylation

Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14

Upd(14)Pat

Premature Menopause

Primary Ovarian Insufficiency

Premature Ovarian Failure

Hypergonadotropic Hypogonadism

Premature Ovarian Insufficiency

Menopause - Premature

Menopause Praecox

Menopause Premature

Menopause, Premature

Female Hypergonadotropic Hypogonadism

Hypergonadotrophic Ovarian Failure

Primary Female Hypogonadism

Pof - [Premature Ovarian Failure]

Ovarian Failure

Ovarian Secretion Suppression

Ovary Hyposecretion

Ovary Secretion Deficiency

Premature Menopause Nos

Cryptorchidism, Unilateral Or Bilateral

Cryptorchidism

Undescended Testicle

Undescended Testis

Cryptorchism

Undescended Testicles

CRYPTO

Impaired Testicular Descent

Cryptosporidiosis

Retained Testis

Unilateral Cryptorchidism

Unilateral Undescended Testis

Nondescent Unilateral Testicle

Unilateral Cryptorchism

Ectopic Testis, Unilateral

Bilateral Cryptorchidism

Bilateral Cryptorchism

Bilateral Nondescent Testicle

Bilateral Undescended Testes

Bilateral Ectopic Testes

Beckwith-Wiedemann Syndrome

Wiedemann-Beckwith Syndrome

BWS

Exomphalos-Macroglossia-Gigantism Syndrome

Emg Syndrome

Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation

Emg Abnormality

Wbs

Exomphalos Macroglossia Gigantism Syndrome

Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation

Macroglossia Exomphalos Gigantism

Strabismus

Strabismus, Susceptibility To

Strabismus, Susceptibility To, 1

Strabismus 1

Kallmann Syndrome

Hypogonadism With Anosmia

Kallman'S Syndrome

Anosmic Hypogonadism

Anosmic Idiopathic Hypogonadotropic Hypogonadism

Hypogonadotropic Hypogonadism And Anosmia

Hypogonadotropic Hypogonadism-Anosmia Syndrome

Olfacto-Genital Pathological Sequence

Familial Hypogonadism With Anosmia

Kallman Syndrome

Dysplasia Olfactogenitalis Of De Morsier

Kallmann'S Syndrome

Congenital Hypogonadotropic Hypogonadism With Anosmia

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus MKRN3 RGD RGD:1311197
Canis familiaris MKRN3 VGNC VGNC:43253
Mus musculus MKRN3 MGD MGI:2181178
Others MKRN3 NCBI