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

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

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as ACDP2; HOMG6; HOMGSMR

Gene ID: 54805 | Gene type: protein coding

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 Reference Source
acts upstream of or within magnesium ion homeostasis IMP
IMP: Inferred from mutant phenotype
21397062 GOA
Cellular Component GO Annotation Evidence Reference 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

DUF21: Domain of unknown function DUF21 (258 - 430)

CBS

CBS: CBS domain (518 - 576)

  • 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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS02896 CNNM2 Human Pre-designed siRNA Set A Pre-designed Sets / 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