1. Gene
  2. SLC4A7 - solute carrier family 4 member 7 Gene

SLC4A7 - solute carrier family 4 member 7 Gene

中文名称:溶质载体家族 4 成员 7

种属: Homo sapiens

同用名: NBC2; NBC3; SBC2; NBCN1; SLC4A6

基因 ID: 9497 | 基因类型: protein coding

关于 SLC4A7

Cytogenetic location: 3p24.1 Genomic coordinates (GRCh38): 3:27,372,723-27,484,384 (from NCBI)

This gene has 18 transcripts (splice variants), 276 orthologues and 9 paralogues. Ubiquitous expression in duodenum (RPKM 27.5), small intestine (RPKM 8.8) and 20 other tissues.

功能概要

该基因座编码碳酸氢钠协同转运蛋白。编码的跨膜蛋白似乎以 1:1 的比例转运钠离子和碳酸氢根离子,因此被认为是电中性协同转运蛋白。编码的蛋白质可能在调节涉及视觉和听觉感觉传递的细胞内 pH 中起关键作用。已经描述了编码不同同种型的选择性剪接转录物变体。[RefSeq 提供,2012 年 4 月]

This locus encodes a sodium bicarbonate cotransporter. The encoded transmembrane protein appears to transport sodium and bicarbonate ions in a 1:1 ratio, and is thus considered an electroneutral cotransporter. The encoded protein likely plays a critical role in regulation of intracellular pH involved in visual and auditory sensory transmission. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Apr 2012]

SLC4A7 基因产物(9)

mRNA Protein Name
NM_001258379.2 NP_001245308.1 sodium bicarbonate cotransporter 3 isoform b
NM_001258380.2 NP_001245309.1 sodium bicarbonate cotransporter 3 isoform c
NM_001321103.2 NP_001308032.1 sodium bicarbonate cotransporter 3 isoform d
NM_001321104.2 NP_001308033.1 sodium bicarbonate cotransporter 3 isoform e
NM_001321105.2 NP_001308034.1 sodium bicarbonate cotransporter 3 isoform f
NM_001321106.2 NP_001308035.1 sodium bicarbonate cotransporter 3 isoform g
NM_001321107.2 NP_001308036.1 sodium bicarbonate cotransporter 3 isoform h
NM_001321108.2 NP_001308037.1 sodium bicarbonate cotransporter 3 isoform i
NM_003615.5 NP_003606.3 sodium bicarbonate cotransporter 3 isoform a
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
14736710 GOA
enables sodium:bicarbonate symporter activity IDA
IDA: 通过直接分析推断
10347222 GOA
enables sodium:bicarbonate symporter activity IMP
IMP: 通过突变表型推断
14578046 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cellular response to growth factor stimulus IDA
IDA: 通过直接分析推断
35772404 GOA
involved in phagosome acidification IDA
IDA: 通过直接分析推断
29779931 GOA
involved in purine nucleotide biosynthetic process IMP
IMP: 通过突变表型推断
35772404 GOA
involved in pyrimidine nucleotide biosynthetic process IMP
IMP: 通过突变表型推断
35772404 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in basolateral plasma membrane IDA
IDA: 通过直接分析推断
17715183 GOA
located in membrane IDA
IDA: 通过直接分析推断
27717805 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
29779931 GOA
located in plasma membrane IMP
IMP: 通过突变表型推断
14578046 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

SLC4A7 蛋白结构

Band_3_cyto

Band_3_cyto: Band 3 cytoplasmic domain (141 - 531)

HCO3_cotransp

HCO3_cotransp: HCO3- transporter family (574 - 1088)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1214 a.a.
蛋白主名 其他名称

sodium bicarbonate cotransporter 3

bicarbonate transporter

关联疾病

疾病名称 别名
Corneal Dystrophy, Band-Shaped

Band Keratopathy

Band-Shaped Keratopathy

Complex Partial Epilepsy

Epilepsy, Complex Partial

Complex Partial Epileptic Seizure

Epilepsy, Psychomotor

Psychomotor Epilepsy

Intestinal Impaction
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

Usher Syndrome

Deafness-Retinitis Pigmentosa Syndrome

Dystrophia Retinae Pigmentosa-Dysostosis Syndrome

Graefe-Usher Syndrome

Hallgren Syndrome

Usher'S Syndrome

Retinitis Pigmentosa-Deafness Syndrome

Retinitis Pigmentosa-Hearing Loss Syndrome

Ush

Usher Syndromes

Renal Tubular Acidosis

Acidosis Renal Tubular

Acidosis, Renal Tubular

Lightwood-Albright Syndrome

Lightwood Syndrome

Idiopathic Infantile Hypercalcemia - Mild Form

Kidney Tubular Acidosis

Renal Tubule Acidosis

Kidney Acidosis

Renal Acidosis

Renal Hyperchloremic Acidosis

Rta - [Renal Tubular Acidosis]

Corneal Degeneration

Degenerative Corneal Opacity

Cystic Fibrosis

Mucoviscidosis

CF

Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis

Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis

Cystic Fibrosis Lung Disease, Modifier Of

Cystic Fibrosis Of Pancreas

Fibrocystic Disease Of Pancreas

Cf - [Cystic Fibrosis]

Cystic Fibrosis Nos

Fibrocystic Disease

Fibrocystic Disease Of The Pancreas

Mucoviscidosis Of Pancreas

Nonproliferative Fibrocystic Disease

Pancreatic Cystic Fibrosis

Breast Cancer

Breast Carcinoma

Male Breast Cancer

Breast Cancer, Familial

Malignant Neoplasm Of Breast

Breast Cancer, Susceptibility To

Breast Cancer, Early-Onset

Malignant Tumor Of Breast

Carcinoma Of Male Breast

Breast Cancer, Invasive Ductal

Breast Cancer, Protection Against

Breast Cancer, Somatic

Breast Cancer, Male

Breast Cancer, Lobular, Somatic

Breast Tumor

Mammary Cancer

Mammary Tumor

Malignant Neoplasm Of Male Breast

Mammary Carcinoma

Male Breast Carcinoma

Familial Cancer Of Breast

Invasive Ductal Breast Carcinoma

Breast Cancer Susceptibility

Breast Cancer, Male, Susceptibility To

Breast Cancer, Early-Onset, Susceptibility To

Malignant Tumor Of The Breast

Mammary Neoplasm

Primary Breast Cancer

Neoplasm Of Male Breast

Carcinoma Of Breast

Breast Cancer In Men

Familial Breast Cancer

Cancer Of Breast

BC

Breast Cancer Familial

Breast Cancer Familial Male

Breast Cancer, Familial Male

Breast Male Carcinoma

Breast Neoplasms

Breast Neoplasms, Male

Mammary Tumors

Mammary Carcinomas

Cancer, Breast

Cancer, Breast, Susceptibility

Invasive Breast Ductal Carcinoma

Breast Neoplasm

Susceptibility To Breast Cancer

Mammary Neoplasms

Animal Mammary Neoplasms

Primary Malignant Neoplasm Of Breast

Infiltrating Ductal Carcinoma Of Breast

Infiltrating Duct Carcinoma Of Unspecified Site

Infiltrating Ductular Carcinoma Of Unspecified Site

Invasive Breast Carcinoma Of No Special Type

Microinvasive Carcinoma Of Breast

Carcinoma With Apocrine Differentiation

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 SLC4A7 VGNC VGNC:77606
Canis familiaris SLC4A7 VGNC VGNC:46436
Bos taurus SLC4A7 VGNC VGNC:34896
Rattus norvegicus SLC4A7 RGD RGD:621208
Felis catus SLC4A7 VGNC VGNC:65391
Mus musculus SLC4A7 MGD MGI:2443878