2. Gene
  3. CA8 - carbonic anhydrase 8 Gene

CA8 - carbonic anhydrase 8 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：碳酸酐酶 8

种属: Homo sapiens

同用名: CALS; CARP; CA-RP; CAMRQ3; CA-VIII

基因 ID: 767 | 基因类型: protein coding

关于 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.

功能概要

由于与其他已知碳酸酐酶基因序列相似，该基因编码的蛋白质最初被命名为 CA 相关蛋白。然而，该基因产物缺乏碳酸酐酶活性 (即二氧化碳的可逆水合) 。该基因产物继续携带基于与碳酸酐酶基因家族其他成员的明确序列同一性的碳酸酐酶名称。具有神经缺陷的小鼠 lurcher 突变体的小脑中 CA8 基因转录的缺失表明这种非催化形式的重要作用。该基因的突变与小脑性共济失调、智力低下和平衡失调综合征 3 (CMARQ3) 有关。该基因的多态性与骨质疏松症有关，该基因在骨肉瘤细胞中的过度表达表明其具有致癌作用。可变剪接导致多个转录本变体。[RefSeq 提供，2016 年 3 月]

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 基因产物(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
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
25416956 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

CA8 蛋白结构

Carb_anhydrase

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

  • 0
  • 100
  • 200
  • 290 a.a.
蛋白主名 其他名称

carbonic anhydrase-related protein

CA-related protein

重组 CA8 蛋白

目录号 产品名 蛋白编号 纯度
HY-P7723 Carbonic Anhydrase 8 Protein, Human (His) P35219 (A2-Q290) ≥95%

关联疾病

疾病名称 别名
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
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

相关产品

Pre-clinical Phase
生物活性分子 (2)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS01775 CA8 Human Pre-designed siRNA Set A Pre-designed Sets / 否
HY-W010221 Phenyltrimethylammonium hydroxide ≥95.0% 否

直系同源

种属 基因名 来源 基因 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
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