Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
134430
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
WD repeat domain 36 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
WDR36 |
Synonyms (NCBI Gene)
Gene synonyms aliases
|
GLC1G, TA-WDRP, TAWDRP, UTP21 |
Disease Acronyms (UniProt)
Disease acronyms from UniProt database
|
GLC1G |
Chromosome
Chromosome number
|
5 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
5q22.1 |
Summary
Summary of gene provided in NCBI Entrez Gene.
|
This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein com |
UniProt ID |
Q8NI36
|
Protein name |
WD repeat-containing protein 36 (T-cell activation WD repeat-containing protein) (TA-WDRP) |
Protein function |
Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associat |
PDB |
7MQ8
,
7MQ9
,
7MQA
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00400
|
WD40 |
152 → 188 |
WD domain, G-beta repeat |
Repeat |
PF12894
|
ANAPC4_WD40 |
253 → 344 |
Anaphase-promoting complex subunit 4 WD40 domain |
Repeat |
PF00400
|
WD40 |
612 → 650 |
WD domain, G-beta repeat |
Repeat |
PF04192
|
Utp21 |
724 → 947 |
Utp21 specific WD40 associated putative domain |
Domain |
|
Tissue specificity |
TISSUE SPECIFICITY: Expressed in heart, placenta, liver, skeletal muscle, kidney and pancreas. In ocular tissues, strong expression in iris, sclera, ciliary muscle, ciliary body, retina and optic nerve. {ECO:0000269|PubMed:15677485}. |
Sequence |
|
Sequence length |
951 |
Interactions |
View interactions
|
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Glaucoma |
Glaucoma, Open-Angle, Glaucoma, Primary Open Angle, Glaucoma 1, Open Angle, G |
rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328, rs121909193, rs74315330, rs74315329, rs74315332, rs74315334, rs74315336, rs74315338, rs74315341, rs121909194, rs74315331, rs1558603396, rs387907175, rs587778873, rs587778875, rs104894979, rs137854895, rs766425037, rs72549380, rs148542782, rs541217363, rs753021890, rs771076928, rs56010818, rs777678299, rs1446110883, rs1573274915, rs1587545234, rs751768343, rs944452644 View all (29 more) |
21059646, 15677485, 18172102 |
Open angle glaucoma |
NON RARE IN EUROPE: Primary adult open-angle glaucoma, Secondary Open Angle Glaucoma |
rs28939688, rs74315328, rs121909193, rs74315330, rs74315329, rs74315332, rs74315334, rs74315336, rs74315338, rs74315341, rs121909194, rs74315331, rs137854858, rs1553534421, rs774258585 |
21059646 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Asthma |
Asthma |
|
19198610, 21907864 |
ClinVar, GWAS |
Eczema |
Eczema |
|
|
GWAS |
Eosinophilia |
Eosinophilia |
|
|
GWAS |
Allergic Sensitization |
Allergic Sensitization |
|
|
GWAS |
Dermatitis |
Dermatitis |
|
|
GWAS |
Glioblastoma |
Glioblastoma |
CRISPR screening of E3 ubiquitin ligases reveals Ring Finger Protein 185 as a novel tumor suppressor in glioblastoma repressed by promoter hypermethylation and miR-587 |
|
GWAS, CBGDA |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Asthma |
Associate
|
22694930, 26119467 |
Cataract |
Associate
|
27307692 |
Color Vision Defects |
Associate
|
34681019 |
Coronary Disease |
Associate
|
36459010 |
Diabetes Mellitus |
Associate
|
25669751 |
Eosinophilic Esophagitis |
Associate
|
25407941, 26119467 |
Eye Diseases |
Associate
|
34681019 |
Glaucoma |
Associate
|
16518310, 17563717, 18172102, 21528004, 21850170, 21931130, 23599335, 31367175, 38241218 |
Glaucoma 1 Open Angle A |
Associate
|
16518310 |
Glaucoma 3 Primary Congenital A |
Associate
|
31367175 |
Glaucoma Open Angle |
Associate
|
18172102, 19145250, 19347049, 21850170, 21931130, 22025897, 25414181, 25637523, 25669751, 29104481, 34681019 |
Hypertension |
Associate
|
29104481 |
Infertility Male |
Associate
|
31103287 |
Low Tension Glaucoma |
Associate
|
17563723, 21850170, 22025897, 34681019 |
Neurodegenerative Diseases |
Associate
|
34681019 |
Retinal Diseases |
Associate
|
34681019 |
Retinitis Pigmentosa |
Associate
|
21931130 |
Vision Disorders |
Associate
|
34681019 |
|