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

中文名称：细胞周期蛋白和 CBS 结构域二价金属阳离子转运介质 4

种属: Homo sapiens

同用名: ACDP4

基因 ID: 26504 | 基因类型: protein coding

关于 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.

功能概要

该基因编码包含蛋白质家族的古老保守结构域的成员。该蛋白质家族的成员包含细胞周期蛋白盒基序，并且与细胞周期蛋白具有结构相似性。编码的蛋白质可能在金属离子运输中发挥作用。该基因的突变与 Jalili 综合征有关，该综合征包括视锥细胞营养不良和釉质发育不全症。[RefSeq 提供，2010 年 2 月]

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 基因产物(1)

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

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables protein binding	IPI IPI: 通过物理相互作用推断	15840172	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in intracellular monoatomic cation homeostasis	IDA IDA: 通过直接分析推断	15840172	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of protein-containing complex	IDA IDA: 通过直接分析推断	15840172	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

CNNM4 蛋白结构

DUF21

CBS

0
200
400
600
775 a.a.

蛋白主名

其他名称

metal transporter CNNM4

ancient conserved domain protein 4

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-W043170	PRL3-CNNM4 PPI-IN-1	Inhibitor	99.33%	否
HY-RS02898	CNNM4 Human Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS20384	Cnnm4 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS26894	Cnnm4 Rat Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 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

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