1. Gene
  2. CA8 - carbonic anhydrase 8 Gene

CA8 - carbonic anhydrase 8 Gene

Homo sapiens

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

Gene ID: 767 | Gene type: protein coding

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
Gene Ontology
  • Molecular Function
Molecular Function GO Annotation Evidence Reference 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 Reference
Intra
CA8 P35219 INTS7 Homo sapiens Q9NVH2
Y2H Array
25910212
Intra
CA8 P35219 INTS7 Homo sapiens Q9NVH2
Validated Y2H
25910212
Intra
CA8 P35219 INTS7 Homo sapiens Q9NVH2
Y2H Bait-Prey Pool
25910212
Intra
CA8 P35219 KLHL8 Homo sapiens Q9P2G9-2
Validated Y2H
32296183
Intra
CA8 P35219 KLHL8 Homo sapiens Q9P2G9-2
Y2H Array
32296183
Intra
CA8 P35219 KLHL8 Homo sapiens Q9P2G9-2
Y2H Prey Pooling
32296183
Intra
CA8 P35219 LMNB2 Homo sapiens Q03252
Y2H Prey Pooling
32296183
Intra
CA8 P35219 LMNB2 Homo sapiens Q03252
Y2H Array
32296183
Intra
CA8 P35219 LMNB2 Homo sapiens Q03252
Validated Y2H
32296183
Intra
CA8 P35219 RAB34 Homo sapiens Q9BZG1
Y2H Bait-Prey Pool
25910212
Intra
CA8 P35219 RAB34 Homo sapiens Q9BZG1
Validated Y2H
25910212
Intra
CA8 P35219 RAB34 Homo sapiens Q9BZG1
Y2H Array
25910212
Intra
CA8 P35219 TBX3 Homo sapiens O15119
Y2H Prey Pooling
25416956
Intra
CA8 P35219 GGA2 Homo sapiens Q9UJY4
Validated Y2H
25910212
Intra
CA8 P35219 GGA2 Homo sapiens Q9UJY4
Y2H Bait-Prey Pool
25910212
Intra
CA8 P35219 GGA2 Homo sapiens Q9UJY4
Y2H Array
25910212
Intra
CA8 P35219 GGA2 Homo sapiens Q9UJY4
Validated Y2H
25416956
Intra
CA8 P35219 GGA2 Homo sapiens Q9UJY4
Y2H Prey Pooling
25416956
Intra
CA8 P35219 SPDL1 Homo sapiens Q96EA4
Y2H Prey Pooling
25416956
Intra
CA8 P35219 SPDL1 Homo sapiens Q96EA4
Y2H Array
25910212
Intra
CA8 P35219 SPDL1 Homo sapiens Q96EA4
Y2H Array
25416956
Intra
CA8 P35219 SPDL1 Homo sapiens Q96EA4
Validated Y2H
25910212
Intra
CA8 P35219 SPDL1 Homo sapiens Q96EA4
Y2H Bait-Prey Pool
25910212
Intra
CA8 P35219 SPDL1 Homo sapiens Q96EA4
Validated Y2H
25416956
Intra
CA8 P35219 MAGED1 Homo sapiens Q9Y5V3
Validated Y2H
32296183
Intra
CA8 P35219 MAGED1 Homo sapiens Q9Y5V3
Y2H Array
32296183
Intra
CA8 P35219 MAGED1 Homo sapiens Q9Y5V3
Validated Y2H
25910212
Intra
CA8 P35219 MAGED1 Homo sapiens Q9Y5V3
Y2H Bait-Prey Pool
25910212
Intra
CA8 P35219 MAGED1 Homo sapiens Q9Y5V3
Y2H Array
25910212
Intra
CA8 P35219 MAGED1 Homo sapiens Q9Y5V3
Validated Y2H
25416956
Intra
CA8 P35219 MAGED1 Homo sapiens Q9Y5V3
Y2H Prey Pooling
32296183
Intra
CA8 P35219 LNX1 Homo sapiens Q8TBB1
Validated Y2H
25910212
Intra
CA8 P35219 LNX1 Homo sapiens Q8TBB1
Y2H Bait-Prey Pool
25910212
Intra
CA8 P35219 LNX1 Homo sapiens Q8TBB1
Y2H Array
25910212
Intra
CA8 P35219 LNX1 Homo sapiens Q8TBB1
Y2H Array
25416956
Intra
CA8 P35219 HSD17B14 Homo sapiens Q9BPX1
Y2H Prey Pooling
32296183
Intra
CA8 P35219 HSD17B14 Homo sapiens Q9BPX1
Validated Y2H
25910212
Intra
CA8 P35219 HSD17B14 Homo sapiens Q9BPX1
Y2H Bait-Prey Pool
25910212
Intra
CA8 P35219 HSD17B14 Homo sapiens Q9BPX1
BFG-2H
27107012
Intra
CA8 P35219 HSD17B14 Homo sapiens Q9BPX1
Y2H Array
32296183
Intra
CA8 P35219 HSD17B14 Homo sapiens Q9BPX1
Validated Y2H
25416956
Intra
CA8 P35219 HSD17B14 Homo sapiens Q9BPX1
Validated Y2H
32296183
Intra
CA8 P35219 HSD17B14 Homo sapiens Q9BPX1
Y2H Array
31515488
Intra
CA8 P35219 HSD17B14 Homo sapiens Q9BPX1
Y2H Array
25910212
Intra
CA8 P35219 CRX Homo sapiens O43186
Y2H Bait-Prey Pool
25910212
Intra
CA8 P35219 CRX Homo sapiens O43186
Validated Y2H
25910212
Intra
CA8 P35219 CRX Homo sapiens O43186
Y2H Array
31515488
Intra
CA8 P35219 CRX Homo sapiens O43186
Y2H Prey Pooling
25416956
Intra
CA8 P35219 CRX Homo sapiens O43186
Y2H Array
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%

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