GJA8 - gap junction protein alpha 8 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 2703

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
Molecular Function GO Annotation Evidence References 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 References Source
involved in gap junction-mediated intercellular transport IDA
IDA: Inferred from direct assay
19756179 GOA
Cellular Component GO Annotation Evidence References 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 References
Intra
GJA8 P48165 AQP4 Homo sapiens P55087 32296183
Intra
GJA8 P48165 PTPRN Homo sapiens Q16849-3 32296183
Intra
GJA8 P48165 TTMP Homo sapiens Q5BVD1 32296183
Intra
GJA8 P48165 DEFB121 Homo sapiens Q5J5C9 32296183
Intra
GJA8 P48165 TMEM182 Homo sapiens Q6ZP80 32296183
Intra
GJA8 P48165 SLC30A3 Homo sapiens Q99726 32296183
Intra
GJA8 P48165 SEC22C Homo sapiens Q9BRL7 32296183
Intra
GJA8 P48165 TWSG1 Homo sapiens Q9GZX9 32296183
Intra
GJA8 P48165 SLC38A7 Homo sapiens Q9NVC3 32296183
Intra
GJA8 P48165 TMEM242 Homo sapiens Q9NWH2 32296183
Intra
GJA8 P48165 MARCHF2 Homo sapiens Q9P0N8 32296183
Intra
GJA8 P48165 TMBIM6 Homo sapiens P55061 32296183
Intra
GJA8 P48165 SLC39A7 Homo sapiens Q92504 32296183
Intra
GJA8 P48165 TMEM128 Homo sapiens Q5BJH2-2 32296183
Intra
GJA8 P48165 TMEM45A Homo sapiens Q9NWC5 32296183
Intra
GJA8 P48165 ERMP1 Homo sapiens Q7Z2K6 32296183
Intra
GJA8 P48165 ORMDL2 Homo sapiens Q53FV1 32296183
Intra
GJA8 P48165 MGST2 Homo sapiens Q99735 32296183
Intra
GJA8 P48165 GPR108 Homo sapiens Q9NPR9 32296183
Intra
GJA8 P48165 GPR108 Homo sapiens Q9NPR9 32296183
Intra
GJA8 P48165 TMEM239 Homo sapiens Q8WW34-2 32296183
Intra
GJA8 P48165 GPR151 Homo sapiens Q8TDV0 32296183
Intra
GJA8 P48165 GIMAP1 Homo sapiens Q8WWP7 32296183
Intra
GJA8 P48165 CLEC1A Homo sapiens Q8NC01 32296183
Intra
GJA8 P48165 SLC13A5 Homo sapiens Q86YT5 32296183
Intra
GJA8 P48165 CTXN3 Homo sapiens Q4LDR2 32296183
Intra
GJA8 P48165 TMEM42 Homo sapiens Q69YG0 32296183
Intra
GJA8 P48165 TSPAN33 Homo sapiens Q86UF1 32296183
Intra
GJA8 P48165 SCARF1 Homo sapiens Q14162 32296183
Intra
GJA8 P48165 MS4A13 Homo sapiens Q5J8X5 32296183
Intra
GJA8 P48165 PGAP2 Homo sapiens Q9UHJ9-5 32296183
Intra
GJA8 P48165 TMEM121 Homo sapiens Q9BTD3 32296183
Intra
GJA8 P48165 SLC16A13 Homo sapiens Q7RTY0 32296183
Intra
GJA8 P48165 GUCA2A Homo sapiens Q02747 32296183
Intra
GJA8 P48165 CLDN19 Homo sapiens Q8N6F1-2 32296183
Intra
GJA8 P48165 SLC35A4 Homo sapiens Q96G79 32296183
Intra
GJA8 P48165 GPR61 Homo sapiens Q9BZJ8 32296183
Intra
GJA8 P48165 QRFPR Homo sapiens Q96P65 32296183
Intra
GJA8 P48165 TMEM107 Homo sapiens Q6UX40 32296183
Intra
GJA8 P48165 TMEM243 Homo sapiens Q9BU79 32296183
Intra
GJA8 P48165 SLC66A1 Homo sapiens Q6ZP29-3 32296183
Intra
GJA8 P48165 SLC39A2 Homo sapiens Q9NP94 32296183
Intra
GJA8 P48165 PROKR2 Homo sapiens Q8NFJ6 32296183
Intra
GJA8 P48165 SLC52A1 Homo sapiens Q9NWF4 32296183
Intra
GJA8 P48165 UNC93A Homo sapiens Q86WB7-2 32296183
Intra
GJA8 P48165 SLC35F1 Homo sapiens Q5T1Q4 32296183
Intra
GJA8 P48165 REEP6 Homo sapiens Q96HR9-2 32296183
Intra
GJA8 P48165 P2RY13 Homo sapiens Q9BPV8 32296183
Intra
GJA8 P48165 P2RY13 Homo sapiens Q9BPV8 32296183
Intra
GJA8 P48165 SLC38A4 Homo sapiens Q969I6 32296183
Intra
GJA8 P48165 SLC8A3 Homo sapiens P57103-7 32296183
Intra
GJA8 P48165 SLC13A2 Homo sapiens Q13183 32296183
Intra
GJA8 P48165 SLC16A12 Homo sapiens Q6ZSM3 32296183
Intra
GJA8 P48165 CYP4F2 Homo sapiens P78329 32296183
Intra
GJA8 P48165 RNF152 Homo sapiens Q8N8N0 32296183
Intra
GJA8 P48165 TMEM86B Homo sapiens Q8N661 32296183
Intra
GJA8 P48165 S1PR5 Homo sapiens Q9H228 32296183
Intra
GJA8 P48165 CYBC1 Homo sapiens Q9BQA9 32296183
Intra
GJA8 P48165 ARL6IP6 Homo sapiens Q8N6S5 32296183
Intra
GJA8 P48165 LHFPL5 Homo sapiens Q8TAF8 32296183
Intra
GJA8 P48165 SLC39A9 Homo sapiens Q9NUM3 32296183
Intra
GJA8 P48165 COX20 Homo sapiens Q5RI15 32296183
Intra
GJA8 P48165 PMP22 Homo sapiens Q01453 32296183
Intra
GJA8 P48165 TMEM60 Homo sapiens Q9H2L4 32296183
Intra
GJA8 P48165 MFSD6 Homo sapiens Q6ZSS7 32296183
Intra
GJA8 P48165 LAPTM4B Homo sapiens Q86VI4 32296183
Intra
GJA8 P48165 TMEM147 Homo sapiens Q9BVK8 32296183
Intra
GJA8 P48165 ATP6V0B Homo sapiens Q99437 32296183
Intra
GJA8 P48165 SLC66A2 Homo sapiens Q8N2U9 32296183
Intra
GJA8 P48165 CLN6 Homo sapiens Q9NWW5 32296183
Intra
GJA8 P48165 GIMAP5 Homo sapiens Q96F15 32296183
Intra
GJA8 P48165 TMEM65 Homo sapiens Q6PI78 32296183
Intra
GJA8 P48165 FXYD6 Homo sapiens Q9H0Q3 32296183
Intra
GJA8 P48165 SLC35F6 Homo sapiens Q8N357 32296183
Intra
GJA8 P48165 STX8 Homo sapiens Q9UNK0 32296183
Intra
GJA8 P48165 MALL Homo sapiens Q13021 32296183
Intra
GJA8 P48165 YIPF6 Homo sapiens Q96EC8 32296183
Intra
GJA8 P48165 CIAO2A Homo sapiens Q9H5X1 32296183
Intra
GJA8 P48165 OTOP2 Homo sapiens Q7RTS6 32296183
Intra
GJA8 P48165 SEC23A Homo sapiens Q15436 32296183
Intra
GJA8 P48165 INSIG2 Homo sapiens Q9Y5U4 32296183
Intra
GJA8 P48165 RUSF1 Homo sapiens Q96GQ5 32296183
Intra
GJA8 P48165 SMCO4 Homo sapiens Q9NRQ5 32296183
Intra
GJA8 P48165 TMEM100 Homo sapiens Q9NV29 32296183
Intra
GJA8 P48165 DOLK Homo sapiens Q9UPQ8 32296183
Intra
GJA8 P48165 PNLIPRP1 Homo sapiens P54315 32296183
Intra
GJA8 P48165 STX1B Homo sapiens P61266 32296183
Intra
GJA8 P48165 CCDC167 Homo sapiens Q9P0B6 32296183
Intra
GJA8 P48165 RXFP4 Homo sapiens Q8TDU9 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

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
Others GJA8 NCBI