CNNM2 - cyclin and CBS domain divalent metal cation transport mediator 2 Gene

Also Known as ACDP2; HOMG6; HOMGSMR

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 54805

About CNNM2

Cytogenetic location: 10q24.32 Genomic coordinates (GRCh38): 10:102,918,294-103,090,222 (from NCBI)

This gene has 4 transcripts (splice variants), 220 orthologues, 3 paralogues and is associated with 4 phenotypes. Ubiquitous expression in kidney (RPKM 2.4), placenta (RPKM 1.9) and 25 other tissues.

Summary

This gene encodes a member of the ancient conserved domain containing protein family. Members of this protein family contain a cyclin box motif and have structural similarity to the cyclins. The encoded protein may play an important role in magnesium homeostasis by mediating the epithelial transport and renal reabsorption of Mg2+. Mutations in this gene are associated with renal hypomagnesemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

CNNM2 Products (3)

mRNA	Protein	Name
NM_017649.5	NP_060119.3	metal transporter CNNM2 isoform 1
NM_199076.3	NP_951058.1	metal transporter CNNM2 isoform 2
NM_199077.3	NP_951059.1	metal transporter CNNM2 isoform 3

Gene Ontology

Biological Process
Cellular Component

Biological Process GO Annotation	Evidence	References	Source
acts upstream of or within magnesium ion homeostasis	IMP IMP: Inferred from mutant phenotype	21397062	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in basolateral plasma membrane	IMP IMP: Inferred from mutant phenotype	21397062	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CNNM2 Protein Structure

DUF21

CBS

0
200
400
600
800
875 a.a.

Protein Preferred Names	Protein Names
metal transporter CNNM2	ancient conserved domain-containing protein 2

Related Diseases

Diseases	Alias
Hypomagnesemia, Seizures, And Mental Retardation 1	Hypomagnesemia, Seizures, And Intellectual Disability 1 HOMGSMR1 Hypomagnesemia, Seizures, And Mental Retardation Homgsmr
Hypomagnesemia 6, Renal	Renal Hypomagnesemia 6 HOMG6 Renal Hypomagnesemia-6 Hypomagnesemia 6 Hypomagnesemia, Type 6, Renal
Primary Hypomagnesemia-Generalized Seizures-Intellectual Disability-Obesity Syndrome
Spastic Paraplegia 45, Autosomal Recessive	SPG45 Hereditary Spastic Paraplegia 45 Autosomal Recessive Spastic Paraplegia Type 45 Autosomal Recessive Spastic Paraplegia Type 65 Spg65 Autosomal Recessive Spastic Paraplegia 45 Paraplegia, Spastic, Type 45, Autosomal Recessive
Moyamoya Angiopathy
Jalili Syndrome	Cone-Rod Dystrophy And Amelogenesis Imperfecta Cone Rod Dystrophy-Amelogenesis Imperfecta Syndrome Cone-Rod Dystrophy Amelogenesis Imperfecta Cone-Rod Dystrophy With Amelogenesis Imperfecta JALIS Cone Rod Dystrophy Amelogenesis Imperfecta
Primary Hypomagnesemia	Familial Primary Hypomagnesemia Homg Primary Familial Hypomagnesemia Genetic Primary Hypomagnesemia Hypomagnesemia 1, Intestinal
Kenny-Caffey Syndrome, Type 2	KCS2 Kenny-Caffey Syndrome Type 2 Autosomal Dominant Kenny-Caffey Syndrome Kenny Syndrome Dwarfism, Cortical Thickening Of Tubular Bones, And Transient Hypocalcemia Dwarfism, Cortical Thickening Of Tubular Bones And Transient Hypocalcemia Kenny-Caffey Syndrome, Autosomal Dominant Kenny-Caffey Syndrome 2 Dwarfism With Cortical Thickening Of Tubular Bones And Transient Hypocalcemia Kenny-Caffey Syndrome
Urofacial Syndrome 1	Urofacial Syndrome Ochoa Syndrome Hydronephrosis With Peculiar Facial Expression Ufs Inverted Smile And Occult Neuropathic Bladder Partial Facial Palsy With Urinary Abnormalities UFS1 Urofacial Ochoa'S Syndrome Urofacial Syndrome Type 1 Facial Palsy, Partial, With Urinary Abnormalities Hydronephrosis-Inverted Smile Inverted Smile-Neurogenic Bladder Hydronephrosis-Inverted Smile Syndrome Inverted Smile-Neurogenic Bladder Syndrome Partial Facial Palsy Partial With Urinary Abnormalities Urologic Diseases
Hypomagnesemia 1, Intestinal	Intestinal Hypomagnesemia 1 HOMG1 Hypomagnesemia With Secondary Hypocalcemia Hsh Hypomagnesemic Tetany Intestinal Hypomagnesemia With Secondary Hypocalcemia Homg Hypomagnesemia Caused By Selective Magnesium Malabsorption Hypomagnesemia Intestinal Type 1 Primary Hypomagnesemia With Secondary Hypocalcemia Phsh Hypomagnesemia, Intestinal, With Secondary Hypocalcemia Familial Primary Hypomagnesemia With Hypocalcuria Hypomagnesemia 1 Hypomagnesmic Tetany
Bartter Syndrome, Type 3	Bartter Disease Type 3 BARTS3 Bartter Syndrome Type 3 Bartter Syndrome, Classic Classic Bartter Syndrome Bartter Syndrome Classic Bartter Syndrome Type Iii Bartter Syndrome 3
Bartter Syndrome, Type 1, Antenatal	Hyperprostaglandin E Syndrome 1 Bartter Disease Type 1 BARTS1 Bartter Syndrome, Type 1 Bartter Syndrome Type 1 Hypokalemic Alkalosis With Hypercalciuria Antenatal 1 Hypokalemic Alkalosis With Hypercalciuria 1, Antenatal Bartter Syndrome Type 1 Antenatal Hypokalemic Alkalosis With Hypercalciuria 1 Antenatal Bartter Syndrome Antenatal Type 1 Antenatal Bartter Syndrome Type 1 Bartter Syndrome Type I Bartter Syndrome 1, Antenatal Abs1 Antenatal Bartter Syndrome 1 Bs1 Bartter Syndrome, Antenatal Type 1 Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bartter Disease	Bartter Syndrome Bartter'S Syndrome Aldosteronism With Hyperplasia Of The Adrenal Cortex Hypokalemic Alkalosis With Hypercalciuria Potassium Wasting Juxtaglomerular Hyperplasia With Secondary Aldosteronism Renal Tubular Normotensive Hypokalemic Alkalosis With Hypercalciuria Salt-Losing Tubular Disorder, Henle'S Loop Type Salt-Wasting Tubulopathy, Henle'S Loop Type Bartters Syndrome
Schizophrenia	SCZD Schizophrenia With Or Without An Affective Disorder Schizophrenia 12 Schizophrenia, Susceptibility To Schizophrenia-1 Dementia Praecox Schizophrenia 1
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02896	CNNM2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	CNNM2	VGNC	VGNC:106026
Mus musculus	CNNM2	MGD	MGI:2151054
Rattus norvegicus	CNNM2	RGD	RGD:1308162
Felis catus	CNNM2	VGNC	VGNC:61024
Bos taurus	CNNM2	VGNC	VGNC:27511
Canis familiaris	CNNM2	VGNC	VGNC:39407
Others	CNNM2	NCBI