1. Gene
  2. GJA8 - gap junction protein alpha 8 Gene

GJA8 - gap junction protein alpha 8 Gene

中文名称:缝隙连接蛋白α8

种属: Homo sapiens

同用名: CAE; CAE1; CX50; CZP1; MP70; CTRCT1

基因 ID: 2703 | 基因类型: protein coding

关于 GJA8

Cytogenetic location: 1q21.2 Genomic coordinates (GRCh38): 1:147,902,795-147,914,486 (from NCBI)

This gene has 1 transcript (splice variant), 215 orthologues, 20 paralogues and is associated with 11 phenotypes. Restricted expression toward testis (RPKM 2.4).

功能概要

该基因编码晶状体生长和晶状体纤维细胞成熟所必需的跨膜连接蛋白。编码的蛋白质是间隙连接通道的一个组成部分,并以钙和 pH 依赖性方式发挥作用。该基因的突变与小带状粉状白内障、核进行性白内障和白内障-小角膜综合征有关。[RefSeq 提供,2009 年 12 月]

This gene encodes a transmembrane connexin protein that is necessary for lens growth and maturation of lens fiber cells. The encoded protein is a component of gap junction channels and functions in a calcium and pH-dependent manner. Mutations in this gene have been associated with zonular pulverulent cataracts, nuclear progressive cataracts, and cataract-microcornea syndrome. [provided by RefSeq, Dec 2009]

GJA8 基因产物(1)

mRNA Protein Name
NM_005267.5 NP_005258.2 gap junction alpha-8 protein
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 gap junction channel activity IDA
IDA: 通过直接分析推断
19756179 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in gap junction-mediated intercellular transport IDA
IDA: 通过直接分析推断
19756179 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of connexin complex IDA
IDA: 通过直接分析推断
19756179 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
19756179 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

GJA8 蛋白结构

Connexin

Connexin: Connexin (3 - 107)

(161 - 227)

Connexin50

Connexin50: Gap junction alpha-8 protein (Cx50) (260 - 326)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 433 a.a.
蛋白主名 其他名称

gap junction alpha-8 protein

cell surface glycoprotein

GJA8 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
Intra GJA8 P48165 AQP4 Homo sapiens P55087
Validated Y2H
32296183
Intra GJA8 P48165 PTPRN Homo sapiens Q16849-3
Validated Y2H
32296183
Intra GJA8 P48165 TTMP Homo sapiens Q5BVD1
Validated Y2H
32296183
Intra GJA8 P48165 DEFB121 Homo sapiens Q5J5C9
Validated Y2H
32296183
Intra GJA8 P48165 TMEM182 Homo sapiens Q6ZP80
Validated Y2H
32296183
Intra GJA8 P48165 SLC30A3 Homo sapiens Q99726
Validated Y2H
32296183
Intra GJA8 P48165 SEC22C Homo sapiens Q9BRL7
Validated Y2H
32296183
Intra GJA8 P48165 TWSG1 Homo sapiens Q9GZX9
Validated Y2H
32296183
Intra GJA8 P48165 SLC38A7 Homo sapiens Q9NVC3
Validated Y2H
32296183
Intra GJA8 P48165 TMEM242 Homo sapiens Q9NWH2
Validated Y2H
32296183
Intra GJA8 P48165 MARCHF2 Homo sapiens Q9P0N8
Validated Y2H
32296183
Intra GJA8 P48165 TMBIM6 Homo sapiens P55061
Validated Y2H
32296183
Intra GJA8 P48165 SLC39A7 Homo sapiens Q92504
Validated Y2H
32296183
Intra GJA8 P48165 TMEM128 Homo sapiens Q5BJH2-2
Validated Y2H
32296183
Intra GJA8 P48165 TMEM45A Homo sapiens Q9NWC5
Validated Y2H
32296183
Intra GJA8 P48165 ERMP1 Homo sapiens Q7Z2K6
Validated Y2H
32296183
Intra GJA8 P48165 ORMDL2 Homo sapiens Q53FV1
Validated Y2H
32296183
Intra GJA8 P48165 MGST2 Homo sapiens Q99735
Validated Y2H
32296183
Intra GJA8 P48165 GPR108 Homo sapiens Q9NPR9
Y2H Prey Pooling
32296183
Intra GJA8 P48165 GPR108 Homo sapiens Q9NPR9
Validated Y2H
32296183
Intra GJA8 P48165 TMEM239 Homo sapiens Q8WW34-2
Validated Y2H
32296183
Intra GJA8 P48165 GPR151 Homo sapiens Q8TDV0
Validated Y2H
32296183
Intra GJA8 P48165 GIMAP1 Homo sapiens Q8WWP7
Validated Y2H
32296183
Intra GJA8 P48165 CLEC1A Homo sapiens Q8NC01
Validated Y2H
32296183
Intra GJA8 P48165 SLC13A5 Homo sapiens Q86YT5
Validated Y2H
32296183
Intra GJA8 P48165 CTXN3 Homo sapiens Q4LDR2
Validated Y2H
32296183
Intra GJA8 P48165 TMEM42 Homo sapiens Q69YG0
Validated Y2H
32296183
Intra GJA8 P48165 TSPAN33 Homo sapiens Q86UF1
Validated Y2H
32296183
Intra GJA8 P48165 SCARF1 Homo sapiens Q14162
Validated Y2H
32296183
Intra GJA8 P48165 MS4A13 Homo sapiens Q5J8X5
Validated Y2H
32296183
Intra GJA8 P48165 PGAP2 Homo sapiens Q9UHJ9-5
Validated Y2H
32296183
Intra GJA8 P48165 TMEM121 Homo sapiens Q9BTD3
Validated Y2H
32296183
Intra GJA8 P48165 SLC16A13 Homo sapiens Q7RTY0
Validated Y2H
32296183
Intra GJA8 P48165 GUCA2A Homo sapiens Q02747
Validated Y2H
32296183
Intra GJA8 P48165 CLDN19 Homo sapiens Q8N6F1-2
Validated Y2H
32296183
Intra GJA8 P48165 SLC35A4 Homo sapiens Q96G79
Validated Y2H
32296183
Intra GJA8 P48165 GPR61 Homo sapiens Q9BZJ8
Validated Y2H
32296183
Intra GJA8 P48165 QRFPR Homo sapiens Q96P65
Validated Y2H
32296183
Intra GJA8 P48165 TMEM107 Homo sapiens Q6UX40
Validated Y2H
32296183
Intra GJA8 P48165 TMEM243 Homo sapiens Q9BU79
Validated Y2H
32296183
Intra GJA8 P48165 SLC66A1 Homo sapiens Q6ZP29-3
Validated Y2H
32296183
Intra GJA8 P48165 SLC39A2 Homo sapiens Q9NP94
Validated Y2H
32296183
Intra GJA8 P48165 PROKR2 Homo sapiens Q8NFJ6
Validated Y2H
32296183
Intra GJA8 P48165 SLC52A1 Homo sapiens Q9NWF4
Validated Y2H
32296183
Intra GJA8 P48165 UNC93A Homo sapiens Q86WB7-2
Validated Y2H
32296183
Intra GJA8 P48165 SLC35F1 Homo sapiens Q5T1Q4
Validated Y2H
32296183
Intra GJA8 P48165 REEP6 Homo sapiens Q96HR9-2
Validated Y2H
32296183
Intra GJA8 P48165 P2RY13 Homo sapiens Q9BPV8
Y2H Prey Pooling
32296183
Intra GJA8 P48165 P2RY13 Homo sapiens Q9BPV8
Validated Y2H
32296183
Intra GJA8 P48165 SLC38A4 Homo sapiens Q969I6
Validated Y2H
32296183
Intra GJA8 P48165 SLC8A3 Homo sapiens P57103-7
Validated Y2H
32296183
Intra GJA8 P48165 SLC13A2 Homo sapiens Q13183
Validated Y2H
32296183
Intra GJA8 P48165 SLC16A12 Homo sapiens Q6ZSM3
Validated Y2H
32296183
Intra GJA8 P48165 CYP4F2 Homo sapiens P78329
Validated Y2H
32296183
Intra GJA8 P48165 RNF152 Homo sapiens Q8N8N0
Validated Y2H
32296183
Intra GJA8 P48165 TMEM86B Homo sapiens Q8N661
Validated Y2H
32296183
Intra GJA8 P48165 S1PR5 Homo sapiens Q9H228
Validated Y2H
32296183
Intra GJA8 P48165 CYBC1 Homo sapiens Q9BQA9
Validated Y2H
32296183
Intra GJA8 P48165 ARL6IP6 Homo sapiens Q8N6S5
Validated Y2H
32296183
Intra GJA8 P48165 LHFPL5 Homo sapiens Q8TAF8
Validated Y2H
32296183
Intra GJA8 P48165 SLC39A9 Homo sapiens Q9NUM3
Validated Y2H
32296183
Intra GJA8 P48165 COX20 Homo sapiens Q5RI15
Validated Y2H
32296183
Intra GJA8 P48165 PMP22 Homo sapiens Q01453
Validated Y2H
32296183
Intra GJA8 P48165 TMEM60 Homo sapiens Q9H2L4
Validated Y2H
32296183
Intra GJA8 P48165 MFSD6 Homo sapiens Q6ZSS7
Validated Y2H
32296183
Intra GJA8 P48165 LAPTM4B Homo sapiens Q86VI4
Validated Y2H
32296183
Intra GJA8 P48165 TMEM147 Homo sapiens Q9BVK8
Validated Y2H
32296183
Intra GJA8 P48165 ATP6V0B Homo sapiens Q99437
Validated Y2H
32296183
Intra GJA8 P48165 SLC66A2 Homo sapiens Q8N2U9
Validated Y2H
32296183
Intra GJA8 P48165 CLN6 Homo sapiens Q9NWW5
Validated Y2H
32296183
Intra GJA8 P48165 GIMAP5 Homo sapiens Q96F15
Validated Y2H
32296183
Intra GJA8 P48165 TMEM65 Homo sapiens Q6PI78
Validated Y2H
32296183
Intra GJA8 P48165 FXYD6 Homo sapiens Q9H0Q3
Validated Y2H
32296183
Intra GJA8 P48165 SLC35F6 Homo sapiens Q8N357
Validated Y2H
32296183
Intra GJA8 P48165 STX8 Homo sapiens Q9UNK0
Validated Y2H
32296183
Intra GJA8 P48165 MALL Homo sapiens Q13021
Validated Y2H
32296183
Intra GJA8 P48165 YIPF6 Homo sapiens Q96EC8
Validated Y2H
32296183
Intra GJA8 P48165 CIAO2A Homo sapiens Q9H5X1
Validated Y2H
32296183
Intra GJA8 P48165 OTOP2 Homo sapiens Q7RTS6
Validated Y2H
32296183
Intra GJA8 P48165 SEC23A Homo sapiens Q15436
Validated Y2H
32296183
Intra GJA8 P48165 INSIG2 Homo sapiens Q9Y5U4
Validated Y2H
32296183
Intra GJA8 P48165 RUSF1 Homo sapiens Q96GQ5
Validated Y2H
32296183
Intra GJA8 P48165 SMCO4 Homo sapiens Q9NRQ5
Validated Y2H
32296183
Intra GJA8 P48165 TMEM100 Homo sapiens Q9NV29
Validated Y2H
32296183
Intra GJA8 P48165 DOLK Homo sapiens Q9UPQ8
Validated Y2H
32296183
Intra GJA8 P48165 PNLIPRP1 Homo sapiens P54315
Validated Y2H
32296183
Intra GJA8 P48165 STX1B Homo sapiens P61266
Validated Y2H
32296183
Intra GJA8 P48165 CCDC167 Homo sapiens Q9P0B6
Validated Y2H
32296183
Intra GJA8 P48165 RXFP4 Homo sapiens Q8TDU9
Validated Y2H
32296183
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
Cataract 1, Multiple Types

Cataract 1 Multiple Types

CTRCT1

Cataract 1, Multiple Types, With Or Without Microcornea

Czp1

Cae1

Pulverulent Zonular Cataract

Cataract, Duffy-Linked

Cataract, Zonular Pulverulent, 1

Duffy Linked Cataract

Zonular Pulverulent Cataract 1

Cataract Duffy-Linked

Cataract-Microcornea Syndrome

Cataract Zonular Pulverulent 1

Ccmc

Cznp

Czp

Zonular Nuclear Pulverulent Cataract

Cataract, Zonular Pulverulent-1

Zonular Pulverulent Cataract

Cataract, Zonular Pulverulent 1

Cataract Microcornea Syndrome

Cataract Microcornea Syndrome

Microcornea Cataract Syndrome

Cataract-Microcornea Syndrome

Sclerocornea

Isolated Congenital Sclerocornea

Early-Onset Sutural Cataract

Early-Onset Cataract With Y-Shaped Suture Opacities

Cataract 30, Multiple Types

CTRCT30

Cataract 30, Pulverulent

Pulverulent Cataract

Coppock-Like Cataract

Dusty Cataract

Pulverulent Cataract 30

Cataract 30

Cataract, Pulverulent

Cataract 44

CTRCT44

Total Early-Onset Cataract

Cataract 44 And Hypotrichosis

Cataract And Hypotrichosis

Cataract, Type 44

Early-Onset Nuclear Cataract
Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb

Chromosome 1q21.1 Deletion Syndrome

1q21.1 Microdeletion Syndrome

Monosomy 1q21.1

1q21.1 Microdeletion

Chromosome 1q21.1 Microdeletion Syndrome

1q21.1 Contiguous Gene Deletion

1q21.1 Deletion

Del(1)(Q21)

1q21.1 Deletion Syndrome

Cataract

Cataracts

Cat - [Cataract]

Cataract Form

Lens Opacity

Lens Opacities

Anterior Segment Dysgenesis

Anterior Segment Developmental Anomaly

Anterior Segment Mesenchymal Dysgenesis

Corneal Opacification And Other Ocular Anomalies

Sclerocornea With Other Ocular Anomalies

Asmd

Asod

Anterior Segment Ocular Dysgenesis

Foxe3-Related Ocular Disorder

Familial Ocular Anterior Segment Mesenchymal Dysgenesis

Dysgenesis, Anterior Segment

Irido-Corneal Dysgenesis

Axenfeld-Rieger Syndrome, Type 3

Anterior Segment Dysgenesis 1

Anterior Segment Mesenchymal Dysgenesis

Anterior Segment Dysgenesis 1, Multiple Subtypes

ASGD1

Asmd

Anterior Segment Ocular Dysgenesis

Asod

Familial Ocular Anterior Segment Mesenchymal Dysgenesis

Ocular Anterior Segment Dysgenesis

Dysgenesis, Anterior Segment, Type 1

Axenfeld-Rieger Syndrome, Type 3

Irido-Corneal Dysgenesis

Cataract 9, Multiple Types

Cataract 9 Multiple Types

CTRCT9

Cataract, Autosomal Dominant

Catc1

Cataract 9, Multiple Types, With Or Without Microcornea

Cataract, Autosomal Recessive Congenital 1

Autosomal Recessive Congenital Cataract 1

Cataract 9 Multiple Types With Or Without Microcornea

Autosomal Dominant Congenital Cataract

Cataract Autosomal Dominant

Cataracts, Autosomal Dominant

Cataract 14, Multiple Types

Cataract 14 Multiple Types

CTRCT14

Czp3

Cae3

Cataract, Zonular Pulverulent 3

Zonular Pulverulent Cataract 3

Cataract, Zonular Pulverulent-3

Cataract, Type 14, Multiple Types

Oculodentodigital Dysplasia

Odd Syndrome

ODDD

Oculodentoosseous Dysplasia

Oculodentodigital Syndrome

Odod

Oculo-Dento-Digital Dysplasia

Oculo-Dento-Digital Syndrome

Oculo-Dento-Osseous Dysplasia

Osseous-Oculo-Dental Dysplasia

Meyer-Schwickerath Syndrome

Oddd Syndrome

Oculo Dento Digital Dysplasia

Odds

Oculodentodigital Dysplasia Syndrome

Hereditary Lymphedema Ic

Lymphedema, Hereditary, Ic

Lmph1c

Craniometaphyseal Dysplasia, Autosomal Recessive

CMDR

Autosomal Recessive Craniometaphyseal Dysplasia

Craniometaphyseal Dysplasia, Autosomal Recessive Type

Dysplasia, Craniometaphyseal, Autosomal Recessive

Congenital Aphakia

Congenital Absence Of Lens

Aphakia, Congenital Primary

Agenesis Of Lens

Lens Disease

Lens Diseases

Posterior Polar Cataract

Cataract, Posterior Polar

Presbyopia

Subnormal Accommodation

Accommodation Insufficiency Of Old Age

Senile Cataract
Nance-Horan Syndrome

NHS

Cataract-Dental Syndrome

Cataract, X-Linked, With Hutchinsonian Teeth

Mesiodens-Cataract Syndrome

Cataract X-Linked With Hutchinsonian Teeth

Cataract Dental Syndrome

Mesiodens Cataract Syndrome

Spinocerebellar Ataxia 14

Spinocerebellar Ataxia Type 14

SCA14

Ataxia, Spinocerebellar, Type 14

Palmoplantar Keratoderma And Congenital Alopecia 1

Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia

PPKCA1

Keratoderma-Hypotrichosis-Leukonychia Totalis Syndrome

Autosomal Dominant Palmoplantar Hyperkeratosis And Congenital Alopecia

Palmoplantar Keratoderma And Congenital Alopecia, Stevanovic Type

Ppk-Ca, Stevanovic Type

Ppkca, Stevanovic Type

Palmoplantar Keratoderma With Congenital Alopecia

Ppkca Stevanovic Type

Alopecia Congenita With Hyperkeratosis Of The Palms And Soles

Alopecia Congenita Keratosis Palmoplantaris

Keratoderma, Palmoplantar, With Congenital Alopecia, Type 1

Mature Cataract

Total Or Mature Cataract

Total, Mature Senile Cataract

Erythrokeratodermia Variabilis Et Progressiva 1

Erythrokeratodermia Variabilis

Erythrokeratodermia Variabilis Et Progressiva

Greither Disease

Ekv

Ekvp

PSEK

Erythrokeratodermia Variabilis With Erythema Gyratum Repens

Keratosis Palmoplantaris Transgrediens Et Progrediens

Transgrediens Et Progrediens Palmoplantar Keratoderma

EKVP1

Erythrokeratodermia, Progressive Symmetric

Erythrokeratodermia Figurata, Congenital Familial, In Plaques

Keratoderma Palmoplantaris Transgrediens

Keratosis Extremitatum Hereditaria Progrediens

Erythrokeratodermia Variabilis, Mendes Da Costa Type

Progressive Symmetric Erythrokeratodermia

Erythrokeratodermia Figurata Variabilis

Greither'S Disease

Ekv-P

Erythrokeratodermia Variabilis Of Mendes Da Costa

Progressive Symmetrical Erythrokeratoderma Of Gottron

Progressive Diffuse Ppk

Progressive Diffuse Palmoplantar Keratoderma

Transgrediens Et Progrediens Ppk

Darier-Gottron Disease

Erythrokeratodermia Progressiva Symmetrica

Progressive Symmetric Erythrokeratodermia, Gottron Type

Congenital Familial Erythrokeratodermia Figurata In Plaques

Erythrokeratodermia Progressive Symmetric

Erythrokeratodermia Variabilis Mendes Da Costa Type

Eye Accommodation Disease
Amblyopia

Lazy Eye

Syndactyly, Type Iii

Syndactyly Type 3

SDTY3

Ring And Little Finger Syndactyly

Syndactyly Of Fingers Iv And V

Syndactyly Of Fingers 4 And 5

Ringand Little Finger Syndactyly

Syndactyly Of Fingers Four And Five

Syndactyly Of The Ring And Little Finger

Sd3

Syndactyly 3

Syndactyly Type Iii

4-5 Finger Syndactyly

Syndactyly, Type 3

Aniridia 1

Aniridia

Congenital Aniridia

AN1

An

Cataract With Late-Onset Corneal Dystrophy

Aplasia Of Iris

Absent Iris

Irideremia

Aniridia Ii, Formerly

An2, Formerly

An2

Aniridia Type Ii

Aniridia, Type 1

An-1

Absence Of Iris

Agenesis Of Iris

Congenital Absence Of Iris

Hereditary Aniridia

Sporadic Aniridia

Coloboma Of Optic Nerve

Morning Glory Disc Anomaly

Coloboma Of Optic Disc

Morning Glory Syndrome

Ectasic Coloboma

Coloboma Of Optic Papilla

Congenital Coloboma Of The Optic Nerve

Optic Nerve Coloboma

Optic Nerve Head Pits, Bilateral Congenital

Volubilis Syndrome

COLON

Coloboma Of Optic Disc, Unspecified Eye

Congenital Coloboma Of Optic Disc

Optic Disk Coloboma

Charcot-Marie-Tooth Disease

Cmt

Hmsn

Hereditary Motor And Sensory Neuropathy

Pma

Cmt - Charcot-Marie-Tooth Disease

Charcot Marie Tooth Disease

Charcot-Marie-Tooth Hereditary Neuropathy

Charcot-Marie-Tooth Syndrome

Peroneal Muscular Atrophy

Hereditary Motor And Sensory Neuropathies

Eye Disease

Eye Diseases

Abnormality Of The Eye

Toxoplasma Oculopathy

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
Bos taurus GJA8 VGNC VGNC:29375
Macaca mulatta GJA8 VGNC VGNC:73058
Rattus norvegicus GJA8 RGD RGD:628890
Canis familiaris GJA8 VGNC VGNC:41236
Mus musculus GJA8 MGD MGI:99953
Felis catus GJA8 VGNC VGNC:82433