CNNM4 - cyclin and CBS domain divalent metal cation transport mediator 4 Gene

Also Known as ACDP4

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 26504

About CNNM4

Cytogenetic location: 2q11.2 Genomic coordinates (GRCh38): 2:96,760,902-96,811,874 (from NCBI)

This gene has 4 transcripts (splice variants), 298 orthologues, 3 paralogues and is associated with 3 phenotypes. Broad expression in colon (RPKM 26.1), thyroid (RPKM 9.4) and 23 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 a role in metal ion transport. Mutations in this gene are associated with Jalili syndrome which consists of cone-rod dystrophy and amelogenesis imperfecta. [provided by RefSeq, Feb 2010]

CNNM4 Products (1)

mRNA	Protein	Name
NM_020184.4	NP_064569.3	metal transporter CNNM4 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	15840172	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in intracellular monoatomic cation homeostasis	IDA IDA: Inferred from direct assay	15840172	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of protein-containing complex	IDA IDA: Inferred from direct assay	15840172	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

CNNM4 Protein Structure

DUF21

CBS

0
200
400
600
775 a.a.

Protein Preferred Names	Protein Names
metal transporter CNNM4	ancient conserved domain protein 4

Related Diseases

Diseases	Alias
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
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Amelogenesis Imperfecta	Ai Congenital Enamel Hypoplasia Al - [Amelogenesis Imperfecta]
Immunodeficiency 9	Immune Dysfunction With T-Cell Inactivation Due To Calcium Entry Defect 1 Combined Immunodeficiency Due To Orai1 Deficiency IMD9 Cid Due To Orai1 Deficiency Severe Combined Immunodeficiency Due To Crac Channel Dysfunction Immunodeficiency, Type 9
Heimler Syndrome 1	Deafness Enamel Hypoplasia Nail Defects Heimler Syndrome HMLR1 Hearing Loss, Sensorineural, With Enamel Hypoplasia And Nail Defects Peroxisome Biogenesis Disorder 1c Pbd1c Deafness-Enamel Hypoplasia-Nail Defects Syndrome Sensorineural Hearing Loss, Enamel Hypoplasia, And Nail Abnormalities Peroxisomal Biogenesis Disorder 1c Bilateral Sensorineural Hearing Loss, Enamel Hypoplasia And Nail Defects Hearing Loss-Enamel Hypoplasia-Nail Defects Syndrome Heimler, Syndrome Heimler Syndrome, Type 1
Trichodentoosseous Syndrome	Tricho-Dento-Osseous Syndrome Tdo Syndrome Trichodontoosseous Syndrome TDO Enamel Hypoplasia And Hypocalcification With Associated Strikingly Curly Hair
Cone-Rod Dystrophy 11	CORD11 Dystrophy, Cone-Rod, Type 11
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	HJMD Congenital Hypotrichosis With Juvenile Macular Dystrophy Hypotrichosis With Cone-Rod Dystrophy Hypotrichosis With Juvenile Macular Dystrophy Juvenile Macular Degeneration And Hypotrichosis Juvenile Macular Dystrophy And Congenital Hypotrichosis Hypotrichosis With Juvenile Macular Degeneration Hypotrichosis Congenital With Juvenile Macular Dystrophy
Dental Pulp Calcification	Pulp Calcification Pulp Calcifications Pulpal Calcifications Dental Pulp Stone
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
Kohlschutter-Tonz Syndrome	Amelocerebrohypohidrotic Syndrome KTZS Epilepsy And Yellow Teeth Kohlschutter Tonz Syndrome Kohlschutter Syndrome Epilepsy Dementia Amelogenesis Imperfecta Epilepsy-Dementia-Amelogenesis Imperfecta Syndrome Epilepsy, Dementia, And Amelogenesis Imperfecta Kohlschutter'S Syndrome Kohlschütter-Tönz Syndrome Kohlschuetter-Toenz Syndrome Presenile Dementia Dementia
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
Primary Hypomagnesemia	Familial Primary Hypomagnesemia Homg Primary Familial Hypomagnesemia Genetic Primary Hypomagnesemia Hypomagnesemia 1, Intestinal
Teeth Hard Tissue Disease
Junctional Epidermolysis Bullosa	Epidermolysis Bullosa, Junctional Jeb Epidermolysis Bullosa Atrophicans Congenital Junctional Epidermolysis Bullosa Epidermolysis Bullosa Junctional Junctional Eb - [Epidermolysis Bullosa] Jeb - [Junctional Epidermolysis Bullosa] Lucidolytic Epidermolysis Bullosa
Achromatopsia	Achm Rod Monochromatism Total Color Blindness Rod Monochromacy Monochromatism Achromatism Complete Or Incomplete Color Blindness Pingelapese Blindness Achromatopsia 1 Achromatopsia 2 Achromatopsia 3
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
Tooth Agenesis	Oligodontia Hypodontia Selective Tooth Agenesis Tooth Agenesis, Selective Familial Tooth Agenesis Anodontia Congenital Absence Of One Tooth

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 (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-W043170	PRL3-CNNM4 PPI-IN-1	Inhibitor	99.33%	Unkown
HY-RS02898	CNNM4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20384	Cnnm4 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26894	Cnnm4 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	CNNM4	MGD	MGI:2151060
Bos taurus	CNNM4	VGNC	VGNC:27513
Felis catus	CNNM4	VGNC	VGNC:61025
Canis familiaris	CNNM4	VGNC	VGNC:39409
Rattus norvegicus	CNNM4	RGD	RGD:1305571
Others	CNNM4	NCBI