1. Gene
  2. SLC4A10 - solute carrier family 4 member 10 Gene

SLC4A10 - solute carrier family 4 member 10 Gene

中文名称:溶质载体家族 4 成员 10

种属: Homo sapiens

同用名: NCBE; NBCn2

基因 ID: 57282 | 基因类型: protein coding

关于 SLC4A10

Cytogenetic location: 2q24.2 Genomic coordinates (GRCh38): 2:161,624,416-161,985,270 (from NCBI)

This gene has 12 transcripts (splice variants), 283 orthologues and 9 paralogues. Biased expression in brain (RPKM 21.0) and adrenal (RPKM 1.0).

功能概要

该基因属于钠偶联碳酸氢盐转运蛋白 (NCBT) 的一个小家族,可调节神经元的细胞内 pH 值、碳酸氢根离子在脉络丛中的分泌以及大脑细胞外液的 pH 值。由该基因编码的蛋白质最初被确定为钠驱动的氯化物碳酸氢盐交换剂 (NCBE) ,尽管现在有证据表明其钠/碳酸氢盐协同转运活性与生理条件下的任何氯离子反向转运无关。该基因现在被归类为跨膜溶质载体 SLC4 家族的成员 A10。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供,2010 年 5 月]

This gene belongs to a small family of sodium-coupled bicarbonate transporters (NCBTs) that regulate the intracellular pH of neurons, the secretion of bicarbonate ions across the choroid plexus, and the pH of the brain extracellular fluid. The protein encoded by this gene was initially identified as a sodium-driven chloride bicarbonate exchanger (NCBE) though there is now evidence that its sodium/bicarbonate cotransport activity is independent of any chloride ion countertransport under physiological conditions. This gene is now classified as a member A10 of the SLC4 family of transmembrane solute carriers. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, May 2010]

SLC4A10 基因产物(19)

mRNA Protein Name
NM_001178015.2 NP_001171486.1 sodium-driven chloride bicarbonate exchanger isoform 1
NM_001178016.2 NP_001171487.1 sodium-driven chloride bicarbonate exchanger isoform 3
NM_001354440.2 NP_001341369.1 sodium-driven chloride bicarbonate exchanger isoform 4
NM_001354441.2 NP_001341370.1 sodium-driven chloride bicarbonate exchanger isoform 5
NM_001354442.2 NP_001341371.1 sodium-driven chloride bicarbonate exchanger isoform 6
NM_001354443.2 NP_001341372.1 sodium-driven chloride bicarbonate exchanger isoform 7
NM_001354444.2 NP_001341373.1 sodium-driven chloride bicarbonate exchanger isoform 8
NM_001354445.2 NP_001341374.1 sodium-driven chloride bicarbonate exchanger isoform 9
NM_001354446.2 NP_001341375.1 sodium-driven chloride bicarbonate exchanger isoform 10
NM_001354447.2 NP_001341376.1 sodium-driven chloride bicarbonate exchanger isoform 11
NM_001354448.2 NP_001341377.1 sodium-driven chloride bicarbonate exchanger isoform 12
NM_001354449.2 NP_001341378.1 sodium-driven chloride bicarbonate exchanger isoform 13
NM_001354450.2 NP_001341379.1 sodium-driven chloride bicarbonate exchanger isoform 14
NM_001354451.2 NP_001341380.1 sodium-driven chloride bicarbonate exchanger isoform 15
NM_001354453.2 NP_001341382.1 sodium-driven chloride bicarbonate exchanger isoform 16
NM_001354455.2 NP_001341384.1 sodium-driven chloride bicarbonate exchanger isoform 17
NM_001354460.2 NP_001341389.1 sodium-driven chloride bicarbonate exchanger isoform 18
NM_001354461.2 NP_001341390.1 sodium-driven chloride bicarbonate exchanger isoform 18
NM_022058.4 NP_071341.2 sodium-driven chloride bicarbonate exchanger isoform 2
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 sodium:bicarbonate symporter activity IDA
IDA: 通过直接分析推断
18319254 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

SLC4A10 蛋白结构

Band_3_cyto

Band_3_cyto: Band 3 cytoplasmic domain (146 - 434)

HCO3_cotransp

HCO3_cotransp: HCO3- transporter family (475 - 989)

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  • 1118 a.a.
蛋白主名 其他名称

sodium-driven chloride bicarbonate exchanger

solute carrier family 4, sodium bicarbonate cotransporter-like, member 10

关联疾病

疾病名称 别名
Complex Partial Epilepsy

Epilepsy, Complex Partial

Complex Partial Epileptic Seizure

Epilepsy, Psychomotor

Psychomotor Epilepsy

Corneal Dystrophy, Band-Shaped

Band Keratopathy

Band-Shaped Keratopathy

Corneal Dystrophy And Perceptive Deafness

Corneal Dystrophy-Perceptive Deafness Syndrome

CDPD

Harboyan Syndrome

Cdpd1

Corneal Dystrophy And Sensorineural Deafness

Corneal Endothelial Dystrophy And Perceptive Deafness

Corneal Dystrophy With Progressive Deafness

Congenital Corneal Dystrophy, Progressive Sensorineural Deafness

Corneal Dystrophy With Progressive Hearing Loss

Corneal Dystrophy-Perceptive Hearing Loss Syndrome

Dystrophy, Corneal, Endothelial, And Perceptive Deafness

Familial Febrile Seizures

Familial Febrile Convulsions

Feb

Febrile Seizures, Familial

Deafness, Autosomal Recessive 1a

DFNB1A

Deafness, Digenic, Gjb2/Gjb3

Autosomal Recessive Nonsyndromic Deafness 1a

Deafness, Digenic, Gjb2/Gjb6

Deafness, Digenic Gjb2/Gjb6

Autosomal Recessive Deafness 1a

Deafness, Autosomal Recessive, 1a

Deafness Digenic Gjb2/Gjb3

Deafness Digenic Gjb2/Gjb6

Deafness Neurosensory Autosomal Recessive 1

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 1

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 1

Nsrd1

Deafness, Autosomal Recessive, Type 1a

Coffin-Siris Syndrome 1

Coffin-Siris Syndrome

Fifth Digit Syndrome

Css

CSS1

Mrd12

Mental Retardation, Autosomal Dominant 12

Hhid

Dwarfism-Onychodysplasia

Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features

Autosomal Dominant Mental Retardation 12

Short Stature-Onychodysplasia.

Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx

Mental Retardation With Hypoplastic Fifth Fingernails And Toenails

Short Stature-Onychodysplasia

Coffin-Siris Syndrome, Type 1

Mental Retardation, Autosomal Dominant, Type 12

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

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta SLC4A10 VGNC VGNC:77695
Mus musculus SLC4A10 MGD MGI:2150150
Rattus norvegicus SLC4A10 RGD RGD:631407
Felis catus SLC4A10 VGNC VGNC:65384
Canis familiaris SLC4A10 VGNC VGNC:46430
Bos taurus SLC4A10 VGNC VGNC:34890