2. Gene
  3. CLCNKA - chloride voltage-gated channel Ka Gene

CLCNKA - chloride voltage-gated channel Ka Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：氯电压门控通道 Ka

种属: Homo sapiens

同用名: CLCK1; ClC-K1; hClC-Ka

基因 ID: 1187 | 基因类型: protein coding

关于 CLCNKA

Cytogenetic location: 1p36.13 Genomic coordinates (GRCh38): 1:16,022,036-16,034,050 (from NCBI)

This gene has 7 transcripts (splice variants), 117 orthologues, 8 paralogues and is associated with 3 phenotypes. Biased expression in kidney (RPKM 55.9), salivary gland (RPKM 4.5) and 1 other tissue.

功能概要

该基因是电压门控氯离子通道 CLC 家族的成员。编码的蛋白质预计有 12 个跨膜结构域，并且需要一个称为 barttin 的 β 亚基来形成功能通道。它被认为在肾脏的盐重吸收和内耳的钾循环中起作用。该基因与位于该基因下游 10 kb 处的 CLCNKB 高度相似。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供，2008 年 7 月]

This gene is a member of the CLC family of voltage-gated chloride channels. The encoded protein is predicted to have 12 transmembrane domains, and requires a beta subunit called barttin to form a functional channel. It is thought to function in salt reabsorption in the kidney and potassium recycling in the inner ear. The gene is highly similar to CLCNKB, which is located 10 kb downstream from this gene. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

CLCNKA 基因产物(3)

mRNA Protein Name
NM_001042704.2 NP_001036169.1 chloride channel protein ClC-Ka isoform 2
NM_001257139.2 NP_001244068.1 chloride channel protein ClC-Ka isoform 3
NM_004070.4 NP_004061.3 chloride channel protein ClC-Ka isoform 1
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables chloride channel activity IDA
IDA: 通过直接分析推断
12111250 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
17562318 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
12111250 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

CLCNKA 蛋白结构

Voltage_CLC

Voltage_CLC: Voltage gated chloride channel (104 - 513)

CBS

CBS: CBS domain (631 - 678)

  • 0
  • 200
  • 400
  • 600
  • 687 a.a.
蛋白主名 其他名称

chloride channel protein ClC-Ka

chloride channel Ka

CLCNKA 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
CLCNKA P51800 CLCNKA Homo sapiens P51800
Solution Sedimentation
17562318
种属内
CLCNKA P51800 CLCNKA Homo sapiens P51800
X-Ray Diffraction
17562318
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Bartter Syndrome, Type 4b, Neonatal, With Sensorineural Deafness

BARTS4B

Bartter Syndrome, Type 4b, Digenic

Bartter Disease Type 4b

Neonatal Bartter Syndrome Type 4b With Sensorineural Deafness

Bartter Syndrome 4b, Neonatal, With Sensorineural Deafness

Bartter Syndrome 4b

Bsnd

Infantile Bartter Syndrome With Sensorineural Deafness

Bartter Syndrome, Type 4b

Bartter Syndrome, Type 4a
Bartter Syndrome, Type 4a, Neonatal, With Sensorineural Deafness

Bsnd

Sensorineural Deafness With Mild Renal Dysfunction

Bartter Disease Type 4a

BARTS4A

Bartter Syndrome, Type 4a

Bartter Syndrome Type 4

Bartter Syndrome, Neonatal, With Sensorineural Deafness

Bartter Syndrome With Sensorineural Deafness

Bartter Syndrome Type 4a

Neonatal Bartter Syndrome With Sensorineural Deafness

Bartter Syndrome Type Iv

Bartter Syndrome With Sensorineural Hearing Loss

Bartter Syndrome 4a, Neonatal, With Sensorineural Deafness

Hyperprostanglandin E Syndrome 4

Hypokalemic Alkalosis With Hypercalciuria Antenatal 4

Infantile Bartter Syndrome With Sensorineural Deafness
Sensorineural Hearing Loss

Sensory Hearing Loss

Sensorineural Deafness

Sensorineural Hearing Loss Disorder

Hearing Loss, Sensorineural

Central Hearing Loss

High Frequency Deafness

High Frequency Hearing Loss

High-Frequency Hearing Loss

Perceptive Deafness

Perceptive Hearing Loss

Perceptive Hearing Loss Or Deafness

Hearing Loss Sensorineural

Deafness Sensorineural

Hearing Loss High-Frequency

Hearing Loss, Central

Hearing Loss, High-Frequency
Diabetes Insipidus
Uterine Adnexa Cancer
Deafness, Autosomal Recessive 96

DFNB96

Autosomal Recessive Nonsyndromic Deafness 96

Autosomal Recessive Deafness 96
Autosomal Recessive Nonsyndromic Deafness

Deafness, Autosomal Recessive, Nonsyndromic
Waardenburg Syndrome, Type 4b

Waardenburg Syndrome Type 4b

WS4B

Waardenburg Syndrome Type Ivb

Waardenburg Syndrome With Hirschsprung Disease Type 4b

Waardenburg Syndrome, Type 4b, With Hirschsprung Disease

Waardenburg Syndrome, Type Ivb

Waardenburg Syndrome 4b

Hirschsprung Disease With Pigmentary Anomaly

Shah-Waardenburg Syndrome

Waardenburg-Shah Syndrome

Waardenburg Syndrome, Type 4a
Nephrogenic Diabetes Insipidus

Vasopressin-Resistant Diabetes Insipidus

Diabetes Insipidus, Nephrogenic

Diabetes Insipidus Nephrogenic

Congenital Nephrogenic Diabetes Insipidus

Adh Resistant Diabetes Insipidus

Diabetes Insipidus Nephrogenic X-Linked

Diabetes Insipidus Nephrogenic Type 1

Adh-Resistant Diabetes Insipidus

Diabetes Insipidus Renalis

Ndi

Renal Diabetes Insipidus

Familial Nephrogenic Diabetes

Antidiuretic-Hormone-Resistant Diabetes Insipidus

Adiuretin-Resistant Diabetes Insipidus

Ndi - [Nephrogenic Diabetes Insipidus]

Diabetes Tenuifluus

Adh - [Antidiuretic-Hormone] Resistant Diabetes Insipidus

Hereditary Nephrogenic Diabetes Insipidus

Familial Nephrogenic Diabetes Insipidus

Primary Nephrogenic Diabetes Insipidus
Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb

Autosomal Recessive Isolated Neurosensory Deafness Type Dfnb

Autosomal Recessive Isolated Neurosensory Hearing Loss Type Dfnb

Autosomal Recessive Isolated Sensorineural Deafness Type Dfnb

Autosomal Recessive Isolated Sensorineural Hearing Loss Type Dfnb

Autosomal Recessive Non-Syndromic Neurosensory Deafness Type Dfnb

Autosomal Recessive Non-Syndromic Neurosensory Hearing Loss Type Dfnb

Autosomal Recessive Non-Syndromic Sensorineural Hearing Loss Type Dfnb
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
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
Gitelman Syndrome

Familial Hypokalemia-Hypomagnesemia

Hypomagnesemia-Hypokalemia, Primary Renotubular, With Hypocalciuria

Potassium And Magnesium Depletion

GTLMNS

Gitelman'S Syndrome

Gs

Hypokalemia-Hypomagnesemia, Primary Renotubular, With Hypocalciuria

Tubular Hypomagnesemia-Hypokalemia With Hypocalcuria

Bartter Syndrome Gitelman Variant

Bartter Syndrome Hypocalciuric Variant

Primary Renotubular Hypomagnesemia-Hypokalemia With Hypocalciuria
Orofaciodigital Syndrome X

OFD10

Orofaciodigital Syndrome With Fibular Aplasia

Oral-Facial-Digital Syndrome With Fibular Aplasia

Ofds X

Oral-Facial-Digital Syndrome, Type X

Orofaciodigital Syndrome 10

Ofd Syndrome 10

Ofds 10

Oral Facial Digital Syndrome 10

Oral Facial Digital Syndrome Type 10

Oral-Facial-Digital Syndrome 10

Orofaciodigital Syndrome Type Figuera

Orofaciodigital Syndrome Type 10

Figuera Syndrome

Oral-Facial-Digital Syndrome Type 10
Renal Tubular Transport Disease

Renal Tubular Transport, Inborn Errors

Inborn Renal Tubular Transport Disorder
Hypomagnesemia 4, Renal

Renal Hypomagnesemia 4

HOMG4

Hypomagnesemia, Renal, Normocalciuric

Hypomagnesemia 4

Renal Hypomagnesemia Normocalciuric

Hypomagnesemia, Type 4, Renal
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
Dent Disease 1

Dent Disease

Dent'S Disease

Dent Disease 2

Dent Disease Type 1

DENT1

Urolithiasis, Hypercalciuric, X-Linked

Nephrolithiasis 2

Nphl2

Dent Syndrome

Dents Disease

Low-Molecular-Weight Proteinuria With Hypercalciuria And Nephrocalcinosis

Renal Fanconi Syndrome With Nephrocalcinosis And Renal Stones

X-Linked Recessive Hypercalciuric Hypophosphatemic Rickets

X-Linked Recessive Nephrolithiasis

Fanconi Syndrome, Renal, With Nephrocalcinosis And Renal Stones

Nephrolithiasis, Hypercalciuric, X-Linked

Nephrolithiasis-Hypercalciuria X-Linked Recessive

Nephrolithiasis, X-Linked Recessive

Dent Disease, Type 1
Bartter Syndrome, Type 2, Antenatal

Bartter Disease Type 2

BARTS2

Hyperprostaglandin E Syndrome 2

Bartter Syndrome, Type 2

Bartter Syndrome Type 2

Hypokalemic Alkalosis With Hypercalciuria Antenatal 2

Hypokalemic Alkalosis With Hypercalciuria 2, Antenatal

Bartter Syndrome Type 2 Antenatal

Hypokalemic Alkalosis With Hypercalciuria 2 Antenatal

Bartter Syndrome Antenatal Type 2

Bartter Syndrome Type Ii

Bartter Syndrome 2, Antenatal

Abs2

Antenatal Bartter Syndrome 2

Bartter Syndrome 2

Bs2

Hyperprostanglandin E Syndrome 2

Bartter Syndrome, Antenatal , Type 2

Antley-Bixler Syndrome, Autosomal Dominant
Myotonia Congenita

Congenital Myotonia, Autosomal Dominant Form

Congenital Myotonia

Thomsen And Becker Disease

Thomsen Disease

Thomsen'S Disease

Generalized Myotonia Of Thomsen

Congenital Myotonic Muscular Dystrophy

Myotonia Congenita Nos
Polyhydramnios
Chromosome 1p36 Deletion Syndrome

1p36 Deletion Syndrome

Deletion 1p36

Monosomy 1p36

Subtelomeric 1p36 Deletion

Monosomy 1p36 Syndrome

Distal Monosomy 1p36

Del(1)(P36)

Deletion 1pter

Monosomy 1pter
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS02760 CLCNKA Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus CLCNKA RGD RGD:68435
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