CA8 - carbonic anhydrase 8 Gene

Also Known as CALS; CARP; CA-RP; CAMRQ3; CA-VIII

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 767

About CA8

Cytogenetic location: 8q12.1 Genomic coordinates (GRCh38): 8:60,185,412-60,281,400 (from NCBI)

This gene has 4 transcripts (splice variants), 222 orthologues, 14 paralogues and is associated with 3 phenotypes. Broad expression in testis (RPKM 2.4), placenta (RPKM 2.4) and 20 other tissues.

Summary

The protein encoded by this gene was initially named CA-related protein because of sequence similarity to Other known Carbonic Anhydrase genes. However, the gene product lacks Carbonic Anhydrase activity (i.e., the reversible hydration of carbon dioxide). The gene product continues to carry a Carbonic Anhydrase designation based on clear sequence identity to Other members of the Carbonic Anhydrase gene family. The absence of CA8 gene transcription in the cerebellum of the lurcher mutant in mice with a neurologic defect suggests an important role for this acatalytic form. Mutations in this gene are associated with cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 (CMARQ3). Polymorphisms in this gene are associated with osteoporosis, and overexpression of this gene in osteosarcoma cells suggests an oncogenic role. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]

CA8 Products (5)

mRNA Protein Name
NM_001321837.2 NP_001308766.1 carbonic anhydrase-related protein isoform a
NM_001321838.2 NP_001308767.1 carbonic anhydrase-related protein isoform b
NM_001321839.2 NP_001308768.1 carbonic anhydrase-related protein isoform c
NM_001412131.1 NP_001399060.1 carbonic anhydrase-related protein isoform d
NM_004056.6 NP_004047.3 carbonic anhydrase-related protein isoform a
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
25416956 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

CA8 Protein Structure

Carb_anhydrase

Carb_anhydrase: Eukaryotic-type carbonic anhydrase (29 - 289)

  • 0
  • 100
  • 200
  • 290 a.a.
Protein Preferred Names Protein Names

carbonic anhydrase-related protein

  • CA-related protein

CA8 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
CA8 P35219 INTS7 Homo sapiens Q9NVH2 25910212
Intra
CA8 P35219 INTS7 Homo sapiens Q9NVH2 25910212
Intra
CA8 P35219 INTS7 Homo sapiens Q9NVH2 25910212
Intra
CA8 P35219 KLHL8 Homo sapiens Q9P2G9-2 32296183
Intra
CA8 P35219 KLHL8 Homo sapiens Q9P2G9-2 32296183
Intra
CA8 P35219 KLHL8 Homo sapiens Q9P2G9-2 32296183
Intra
CA8 P35219 LMNB2 Homo sapiens Q03252 32296183
Intra
CA8 P35219 LMNB2 Homo sapiens Q03252 32296183
Intra
CA8 P35219 LMNB2 Homo sapiens Q03252 32296183
Intra
CA8 P35219 RAB34 Homo sapiens Q9BZG1 25910212
Intra
CA8 P35219 RAB34 Homo sapiens Q9BZG1 25910212
Intra
CA8 P35219 RAB34 Homo sapiens Q9BZG1 25910212
Intra
CA8 P35219 TBX3 Homo sapiens O15119 25416956
Intra
CA8 P35219 GGA2 Homo sapiens Q9UJY4 25910212
Intra
CA8 P35219 GGA2 Homo sapiens Q9UJY4 25910212
Intra
CA8 P35219 GGA2 Homo sapiens Q9UJY4 25910212
Intra
CA8 P35219 GGA2 Homo sapiens Q9UJY4 25416956
Intra
CA8 P35219 GGA2 Homo sapiens Q9UJY4 25416956
Intra
CA8 P35219 SPDL1 Homo sapiens Q96EA4 25416956
Intra
CA8 P35219 SPDL1 Homo sapiens Q96EA4 25910212
Intra
CA8 P35219 SPDL1 Homo sapiens Q96EA4 25416956
Intra
CA8 P35219 SPDL1 Homo sapiens Q96EA4 25910212
Intra
CA8 P35219 SPDL1 Homo sapiens Q96EA4 25910212
Intra
CA8 P35219 SPDL1 Homo sapiens Q96EA4 25416956
Intra
CA8 P35219 MAGED1 Homo sapiens Q9Y5V3 32296183
Intra
CA8 P35219 MAGED1 Homo sapiens Q9Y5V3 32296183
Intra
CA8 P35219 MAGED1 Homo sapiens Q9Y5V3 25910212
Intra
CA8 P35219 MAGED1 Homo sapiens Q9Y5V3 25910212
Intra
CA8 P35219 MAGED1 Homo sapiens Q9Y5V3 25910212
Intra
CA8 P35219 MAGED1 Homo sapiens Q9Y5V3 25416956
Intra
CA8 P35219 MAGED1 Homo sapiens Q9Y5V3 32296183
Intra
CA8 P35219 LNX1 Homo sapiens Q8TBB1 25910212
Intra
CA8 P35219 LNX1 Homo sapiens Q8TBB1 25910212
Intra
CA8 P35219 LNX1 Homo sapiens Q8TBB1 25910212
Intra
CA8 P35219 LNX1 Homo sapiens Q8TBB1 25416956
Intra
CA8 P35219 HSD17B14 Homo sapiens Q9BPX1 32296183
Intra
CA8 P35219 HSD17B14 Homo sapiens Q9BPX1 25910212
Intra
CA8 P35219 HSD17B14 Homo sapiens Q9BPX1 25910212
Intra
CA8 P35219 HSD17B14 Homo sapiens Q9BPX1 27107012
Intra
CA8 P35219 HSD17B14 Homo sapiens Q9BPX1 32296183
Intra
CA8 P35219 HSD17B14 Homo sapiens Q9BPX1 25416956
Intra
CA8 P35219 HSD17B14 Homo sapiens Q9BPX1 32296183
Intra
CA8 P35219 HSD17B14 Homo sapiens Q9BPX1 31515488
Intra
CA8 P35219 HSD17B14 Homo sapiens Q9BPX1 25910212
Intra
CA8 P35219 CRX Homo sapiens O43186 25910212
Intra
CA8 P35219 CRX Homo sapiens O43186 25910212
Intra
CA8 P35219 CRX Homo sapiens O43186 31515488
Intra
CA8 P35219 CRX Homo sapiens O43186 25416956
Intra
CA8 P35219 CRX Homo sapiens O43186 25910212
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant CA8 Proteins

Cat. No. Product Name Accession Purity
HY-P7723 Carbonic Anhydrase 8 Protein, Human (His) P35219 (A2-Q290) ≥ 95%, as determined by reducing SDS-PAGE.

CA8 Antibodies

Cat. No. Product Name Application Reactivity
HY-P811051 Carbonic Anhydrase 8 Antibody WB, IHC-P, ICC/IF Human, Mouse, Rat

Related Diseases

Diseases Alias
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
  • Cerebellar Ataxia, Intellectual Disability, And Dysequilibrium Syndrome 3

  • Cerebellar Ataxia And Mental Retardation With Or Without Quadrupedal Locomotion 3

  • CAMRQ3

  • CMARQ3

  • Ataxia, Cerebellar, And Mental Retardation With/Without Quadrupedal Locomotion, Type 3

Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
  • Dysequilibrium Syndrome

  • CAMRQ1

  • Des

  • Cerebellar Ataxia, Intellectual Disability, And Dysequilibrium Syndrome 1

  • Cerebellar Hypoplasia, Vldlr-Associated

  • Cerebellar Hypoplasia And Mental Retardation With Or Without Quadrupedal Locomotion 1

  • Cerebellar Ataxia, Mental Retardation And Dysequlibrium Syndrome

  • Uner Tan Syndrome

  • Vldlr Cerebellar Hypoplasia

  • Vldlrch

  • Vldlr-Associated Cerebellar Hypoplasia

  • Cerebellar Ataxia And Mental Retardation With Or Without Quadrupedal Locomotion 1

  • Cerebellar Ataxia, Congenital, And Mental Retardation, Autosomal Recessive

  • Camrq

  • Cerebellar Ataxia, Mental Retardation, Dysequilibrium Syndrome 1

  • Cerebellar Disorder, Nonprogressive, With Intellectual Disability

  • Cerebellar Hypoplasia, Vldlr Associated

  • Autosomal Recessive Cerebellar Ataxia With Mental Retardation

  • Autosomal Recessive Cerebellar Hypoplasia With Cerebral Gyral Simplification

  • Cerebellar Disorder, Nonprogressive, With Mental Retardation

  • Cerebellar Hypoplasia And Mental Retardation With Or Without Quadrupedal Locomotion

  • Chmrq1

  • Des-Vldlr

  • Dysequilibrium Syndrome-Vldlr

  • Vldlr-Ch

  • Camrq Syndrome

  • Cerebellar Ataxia-Intellectual Disability-Dysequilibrium Syndrome Syndrome

  • Non-Progressive Cerebellar Ataxia-Intellectual Disability Syndrome

  • Uts

  • Cerebellar Hypoplasia Vldlr-Associated

  • Dialysis Disequilibrium Syndrome

Autosomal Recessive Congenital Cerebellar Ataxia
Spinocerebellar Ataxia 29
  • Spinocerebellar Ataxia Type 29

  • SCA29

  • Cnpca

  • Cerebellar Vermis Aplasia

  • Aplasia Of Cerebellar Vermis

  • Acv

  • Cerebellar Ataxia, Congenital Nonprogressive, Autosomal Dominant

  • Spinocerebellar Ataxia 29, Congenital Nonprogressive

  • Congenital Nonprogressive Spinocerebellar Ataxia

  • Autosomal Dominant Congenital Nonprogressive Cerebellar Ataxia

  • Ataxia, Spinocerebellar, Type 29, Congenital Nonprogressive

  • Familial Aplasia Of The Vermis

Paraneoplastic Cerebellar Degeneration
  • Pcd

  • Paraneoplastic Cerebellar Ataxia

  • Rapidely Progressive Cerebellar Syndrome

  • Subacute Cerebellar Degeneration

Duane Retraction Syndrome
  • Stilling-Turk-Duane Syndrome

  • Duane'S Syndrome

  • Duane Syndrome

  • Isolated Duane Retraction Syndrome

  • Co-Contractive Retraction Syndrome

  • Duane Anomaly, Isolated

  • Ocular Retraction Syndrome

  • Drs

  • Durs

Sulfonamide Allergy
Machado-Joseph Disease
  • SCA3

  • MJD

  • Spinocerebellar Ataxia 3

  • Azorean Disease

  • Spinocerebellar Ataxia Type 3

  • Spinocerebellar Atrophy

  • Azorean Neurologic Disease

  • Spinopontine Atrophy

  • Nigrospinodentatal Degeneration

  • Spinocerebellar Atrophy Iii

  • Spinocerebellar Atrophy Type 3

  • Azorean Ataxia

  • Azorean Disease Of The Nervous System

  • Machado Disease

  • Nigro-Spino-Dentatal Degeneration With Nuclear Ophthalmoplegia

  • Disease, Machado-Joseph

  • Ataxia, Spinocerebellar

Osteoporosis
  • Postmenopausal Osteoporosis

  • Osteoporosis, Postmenopausal

  • Bone Mineral Density Quantitative Trait Locus

  • Bmnd

  • Osteoporosis, Involutional

  • Osteoporosis, Susceptibility To

  • Osteoporosis, Postmenopausal, Susceptibility

  • Bone Mineral Density Variation Qtl, Osteoporosis

  • OSTEOP

  • Involutional Osteoporosis

  • Senile Osteoporosis

  • Osteoporosis Postmenopausal

  • Bone Mineral Density, Quantitative Trait Locus

  • Osteoporosis, Senile

  • Idiopathic Osteoporosis

  • Bone Rarefaction Nos

  • Type 1 Osteoporosis

Tukel Syndrome
  • Cfeom-U

  • Congenital Fibrosis Of The Extraocular Muscles 4

  • Fibrosis Of Extraocular Muscles, Congenital, With Ulnar Hand Anomalies

  • Fibrosis Of Extraocular Muscles, Congenital, 4

  • Cfeom4

  • Congenital Extraocular Muscle Fibrosis With Ulnar Hand Anomalies

  • Congenital Fibrosis Of The Extraocular Muscles

Barber-Say Syndrome
  • Hypertrichosis, Atrophic Skin, Ectropion, And Macrostomia

  • Barber Say Syndrome

  • BBRSAY

  • Bss

  • Hypertrichosis Atrophic Skin Ectropion Macrostomia

  • Hypertrichosis-Atrophic Skin-Ectropion-Macrostomia Syndrome

Spinocerebellar Ataxia, X-Linked 1
  • X-Linked Progressive Cerebellar Ataxia

  • SCAX1

  • Opcax

  • X-Linked Spinocerebellar Ataxia 1

  • Olivopontocerebellar Atrophy, X-Linked

  • Opca, X-Linked

  • Olivopontocerebellar Atrophy X-Linked

  • Opca X-Linked

  • Ataxia, Spinocerebellar, X-Linked Type 1

Cerebral Palsy, Ataxic, Autosomal Recessive
  • Ataxic Cerebral Palsy

  • Acp

  • Hypotonic Cerebral Palsy

  • Cerebral Palsy Ataxic

  • Cerebral Palsy, Atonic

  • Congenital Cerebral Palsy With Ataxia

  • Ataxic Cerebral Paralysis

  • Ataxia With Cerebral Palsy

  • Cerebral Infantile Diataxia

Gillespie Syndrome
  • GLSP

  • Aniridia, Cerebellar Ataxia And Mental Deficiency

  • Aniridia Cerebellar Ataxia Mental Deficiency

  • Aniridia, Cerebellar Ataxia, And Mental Retardation

  • Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome

  • Aniridia-Cerebellar Ataxia-Intellectual Disability

  • Aniridia-Cerebellar Ataxia-Mental Deficiency

  • Partial Aniridia-Cerebellar Ataxia-Oligophrenia

  • Aniridia, Cerebellar Ataxia, And Intellectual Disability

Cenani-Lenz Syndactyly Syndrome
  • Syndactyly Type 7

  • Cenani Syndactylism

  • Cenani-Lenz Syndactyly

  • CLSS

  • Syndactyly Cenani Lenz Type

  • Cenani-Lenz Syndrome

  • Syndactyly, Type Vii

  • Cenani-Lenz Type Syndactyly

  • Cenani Syndactyly

  • Syndactyly Type Vii

Intracranial Hypertension, Idiopathic
  • Pseudotumor Cerebri

  • Idiopathic Intracranial Hypertension

  • Benign Intracranial Hypertension

  • Iih

  • Benign Intracran. Hypt.

X-Linked Cerebellar Ataxia
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 CA8 VGNC VGNC:26658
Macaca mulatta CA8 VGNC VGNC:70494
Felis catus CA8 VGNC VGNC:60279
Mus musculus CA8 MGD MGI:88253
Rattus norvegicus CA8 RGD RGD:1304709
Canis familiaris CA8 VGNC VGNC:38616
Others CA8 NCBI