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  2. PDC - phosducin Gene

PDC - phosducin Gene

中文名称:磷导素

种属: Homo sapiens

同用名: PHD; MEKA; PhLP; PhLOP

基因 ID: 5132 | 基因类型: protein coding

关于 PDC

Cytogenetic location: 1q31.1 Genomic coordinates (GRCh38): 1:186,443,566-186,461,114 (from NCBI)

This gene has 2 transcripts (splice variants), 269 orthologues and 4 paralogues. Low expression observed in reference dataset.

功能概要

该基因编码一种磷蛋白,位于视网膜视杆细胞的外节和内节。这种蛋白质可能参与视觉光转导的调节或光感受器代谢的整合。它通过与视网膜 G 蛋白转导蛋白的 β 和 γ 亚基相互作用来调节光转导级联。该基因是色素性视网膜炎和 II 型 Usher 综合征的潜在候选基因。已经鉴定出编码不同亚型的选择性剪接转录物变体。[RefSeq 提供,2008 年 7 月]

This gene encodes a phosphoprotein, which is located in the outer and inner segments of the rod cells in the retina. This protein may participate in the regulation of visual phototransduction or in the integration of photoreceptor metabolism. It modulates the phototransduction cascade by interacting with the beta and gamma subunits of the retinal G-protein transducin. This gene is a potential candidate gene for retinitis pigmentosa and Usher syndrome type II. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

PDC 基因产物(2)

mRNA Protein Name
NM_002597.5 NP_002588.3 phosducin isoform a
NM_022576.4 NP_072098.1 phosducin isoform b

PDC 蛋白结构

Phosducin

Phosducin: Phosducin (1 - 244)

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

phosducin

33 kDa phototransducing protein

关联疾病

疾病名称 别名
Pollen Allergy

Hay Fever

Tomato Allergy

Solanum Lycopersicum Fruit Allergy

Timothy Grass Allergy
Melon Allergy

Cucumis Melo Fruit Allergy

Orange Allergy

Citrus Sinensis Fruit Allergy

Apple Allergy

Malus Domestica Fruit Allergy

Thunderstorm Triggered Asthma

Thunderstorm Asthma

Thunderstorm Related Asthma

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

Peach Allergy

Prunus Persica Fruit Allergy

Fish Allergy

Allergy To Fish

Splenic Flexure Cancer

Ca Splenic Flexure - Colon

Malignant Neoplasm Of Splenic Flexure

Malignant Tumor Of Splenic Flexure

Malignant Neoplasm Of Splenic Flexure Of Colon

Usher Syndrome

Deafness-Retinitis Pigmentosa Syndrome

Dystrophia Retinae Pigmentosa-Dysostosis Syndrome

Graefe-Usher Syndrome

Hallgren Syndrome

Usher'S Syndrome

Retinitis Pigmentosa-Deafness Syndrome

Retinitis Pigmentosa-Hearing Loss Syndrome

Ush

Usher Syndromes

Fruit Allergy

Allergy To Fruit

Legume Allergy

Fabaceae Allergy

Respiratory Allergy

Airway Allergy

Nasal Cavity Disease

Disorder Of Nasal Cavity

Nose Disease

Nose Diseases

Disorder Of The Nose

Nasal Disorder

Abnormality Of The Nose

Leber Plus Disease

Leber Congenital Amaurosis

Lca

Leber'S Amaurosis

Leber'S Disease

Amaurosis Congenita Of Leber

Amaurosis Congenita Of Leber, Type 1

Lhon Plus Disease

Congenital Absence Of The Rods And Cones

Congenital Retinal Blindness

Crb

Congenital Amaurosis Of Retinal Origin

Leber'S Congenital Amaurosis

Leber Congenital Amaurosis 1

Leber'S Congenital Tapetoretinal Degeneration

Leber'S Congenital Tapetoretinal Dysplasia

Lca1

Leber Congenital Amaurosis Type 1

Retinal Blindness, Congenital

Amaurosis, Leber Congenital

Dysgenesis Neuroepithelialis Retinae

Hereditary Epithelial Dysplasia Of Retina

Hereditary Retinal Aplasia

Heredoretinopathia Congenitalis

Leber Abiotrophy

Leber Congenital Tapetoretinal Degeneration

Lebers Congenital Amaurosis

Optic Atrophy, Hereditary, Leber

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

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta PDC VGNC VGNC:106467
Canis familiaris PDC VGNC VGNC:44333
Mus musculus PDC MGD MGI:98090
Bos taurus PDC VGNC VGNC:32656
Rattus norvegicus PDC RGD RGD:3277
Macaca fascicularis PDC NCBI NCBI:102141993
Others PDC NCBI