2. Gene
  3. CWC27 - CWC27 spliceosome associated cyclophilin Gene

CWC27 - CWC27 spliceosome associated cyclophilin Gene

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

中文名称：CWC27 剪接体相关亲环蛋白

种属: Homo sapiens

同用名: RPSKA; NY-CO-10; SDCCAG10; SDCCAG-10

基因 ID: 10283 | 基因类型: protein coding

关于 CWC27

Cytogenetic location: 5q12.3 Genomic coordinates (GRCh38): 5:64,768,918-65,018,763 (from NCBI)

This gene has 29 transcripts (splice variants), 207 orthologues, 22 paralogues and is associated with 4 phenotypes. Ubiquitous expression in testis (RPKM 2.3), brain (RPKM 1.8) and 25 other tissues.

功能概要

预测可启用肽基-脯氨酰顺反异构酶活性。预测参与蛋白质肽基-脯氨酰异构化。位于核质中。部分 U2 型预催化剪接体和催化步骤 2 剪接体。 [由基因组资源联盟提供，2022 年 4 月]

Predicted to enable peptidyl-prolyl cis-trans isomerase activity. Predicted to be involved in protein peptidyl-prolyl isomerization. Located in nucleoplasm. Part of U2-type precatalytic spliceosome and catalytic step 2 spliceosome. [provided by Alliance of Genome Resources, Apr 2022]

CWC27 基因产物(5)

mRNA Protein Name
NM_001297644.1 NP_001284573.1 spliceosome-associated protein CWC27 homolog isoform 2
NM_001297645.2 NP_001284574.1 spliceosome-associated protein CWC27 homolog isoform 3
NM_001318000.2 NP_001304929.1 spliceosome-associated protein CWC27 homolog isoform 4
NM_001364478.1 NP_001351407.1 spliceosome-associated protein CWC27 homolog isoform 5
NM_005869.4 NP_005860.2 spliceosome-associated protein CWC27 homolog isoform 1

CWC27 蛋白结构

Pro_isomerase

Pro_isomerase: Cyclophilin type peptidyl-prolyl cis-trans isomerase/CLD (17 - 166)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 472 a.a.
蛋白主名 其他名称

spliceosome-associated protein CWC27 homolog

CWC27 spliceosome associated protein homolog

关联疾病

疾病名称 别名
Retinitis Pigmentosa With Or Without Skeletal Anomalies

RPSKA

Metaphyseal Chondrodysplasia With Retinitis Pigmentosa

Metaphyseal Chondrodysplasia-Retinitis Pigmentosa Syndrome

Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome

Retinitis Pigmentosa, With/Without Skeletal Anomalies
Retinal Degeneration

Degeneration Of Retina
Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal
Burn-Mckeown Syndrome

Choanal Atresia-Hearing Loss-Cardiac Defects-Craniofacial Dysmorphism Syndrome

Oculootofacial Dysplasia

BMKS

Oofd

Bilateral Choanal Atresia, Cardiac Defects, Deafness, And Dysmorphic Appearance

Choanal Atresia - Deafness - Cardiac Defects - Dysmorphism Syndrome

Choanal Atresia Deafness Cardiac Defects Dysmorphism

Oculo-Oto-Facial Dysplasia
Brachydactyly
Acrofacial Dysostosis 1, Nager Type

Nager Syndrome

Nager Acrofacial Dysostosis

AFD1

Preaxial Acrofacial Dysostosis

Mandibulofacial Dysostosis, Treacher Collins Type, With Limb Anomalies

Afd, Nager Type

Nager Acrofacial Dysostosis Syndrome

Nafd

Acrofacial Dysostosis, Nager Type

Afd

Preaxial Manibulofacial Dysostosis

Split Hand Deformity-Mandibulofacial Dysostosis

Preaxial Mandibulofacial Dysostosis

Mandibulofacial Dysostosis With Preaxial Limb Anomalies

Preaxial Acrodysostosis

Afd Nager Type

Mandibulofacial Dysostosis Treacher Collins Type With Limb Anomalies
Mandibulofacial Dysostosis, Guion-Almeida Type

Mandibulofacial Dysostosis With Microcephaly

Mandibulofacial Dysostosis-Microcephaly Syndrome

MFDGA

MFDM

Mfdm Syndrome

Growth And Mental Retardation, Mandibulofacial Dysostosis, Microcephaly, And Cleft Palate

Growth Delay - Intellectual Disability - Mandibulofacial Dysostosis - Microcephaly - Cleft Palate

Growth Delay-Intellectual Disability-Mandibulofacial Dysostosis-Microcephaly-Cleft Palate Syndrome

Dysostosis, Mandibulofacial, Guion-Almeida Type
Tarp Syndrome

TARPS

Pierre Robin Syndrome With Congenital Heart Malformation And Clubfoot

Pierre Robin Sequence-Congenital Heart Defect-Talipes Syndrome

Pierre Robin Syndrome-Congenital Heart Defect-Talipes Syndrome

Talipes Equinovarus-Atrial Septal Defect-Robin Sequence-Persistence Of The Left Superior Vena Cava Syndrome

Talipes Equinovarus, Atrial Septal Defect, Robin Sequence, And Persistence Of Left Superior Vena Cava

Pierre Robin Sequence - Congenital Heart Defect - Talipes

Pierre Robin Syndrome - Congenital Heart Defect - Talipes

Talipes Equinovarus - Atrial Septal Defect - Robin Sequence - Persistence Of The Left Superior Vena Cava

Talipes Equinovarus Atrial Septal Defect Robin Sequence And Persistence Of Left Superior Vena Cava
Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1
Cone-Rod Dystrophy 2

Cone-Rod Dystrophy

CORD2

Cone-Rod Retinal Dystrophy

Rcrd2

Cone-Rod Retinal Dystrophy 2

Crd2

Cord

Crd

Retinal Cone-Rod Dystrophy

Cone-Rod Retinal Dystrophy-2

Retinal Cone-Rod Dystrophy 2

Tapetoretinal Degeneration

Cone-Rod Degeneration

Cone Rod Dystrophy

Dystrophy, Cone-Rod

Dystrophy, Cone-Rod, Type 2

Retinitis Pigmentosa

Retinitis Pigmentosa 2

Progressive Cone-Rod Dystrophy
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 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS03375 CWC27 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta CWC27 VGNC VGNC:71396
Canis familiaris CWC27 VGNC VGNC:39743
Bos taurus CWC27 VGNC VGNC:27843
Felis catus CWC27 VGNC VGNC:61293
Mus musculus CWC27 MGD MGI:1914535
Rattus norvegicus CWC27 RGD RGD:1310697
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