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

GJA8 - gap junction protein alpha 8 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as CAE; CAE1; CX50; CZP1; MP70; CTRCT1

Gene ID: 2703 | Gene type: protein coding

About 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).

Summary

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 Products(1)

mRNA Protein Name
NM_005267.5 NP_005258.2 gap junction alpha-8 protein
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables gap junction channel activity IDA
IDA: Inferred from direct assay
19756179 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
Biological Process GO Annotation Evidence Reference Source
involved in gap junction-mediated intercellular transport IDA
IDA: Inferred from direct assay
19756179 GOA
Cellular Component GO Annotation Evidence Reference Source
part of connexin complex IDA
IDA: Inferred from direct assay
19756179 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
19756179 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GJA8 Protein Structure

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.
Protein Preferred Names Protein Names

gap junction alpha-8 protein

cell surface glycoprotein

GJA8 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
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
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
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
Diseases Alias
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

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS05445 GJA8 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source 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