WDR4 - WD repeat domain 4 Gene

Homo sapiens

Also known as hWH; Wuho; MIGSB; TRM82; GAMOS6; TRMT82

Gene ID: 10785 | Gene type: protein coding

About WDR4

Cytogenetic location: 21q22.3 Genomic coordinates (GRCh38): 21:42,843,094-42,892,998 (from NCBI)

This gene has 7 transcripts (splice variants), 189 orthologues and is associated with 4 phenotypes. Ubiquitous expression in lymph node (RPKM 3.3), appendix (RPKM 3.2) and 25 other tissues.

Summary

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 complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, Apoptosis, and gene regulation. This gene is excluded as a candidate for a form of nonsyndromic deafness (DFNB10), but is still a candidate for Other disorders mapped to 21q22.3 as well as for the development of Down syndrome phenotypes. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2012]

WDR4 Products(6)

mRNA	Protein	Name
NM_001260474.2	NP_001247403.1	tRNA (guanine-N(7)-)-methyltransferase non-catalytic subunit WDR4 isoform 2
NM_001260475.2	NP_001247404.1	tRNA (guanine-N(7)-)-methyltransferase non-catalytic subunit WDR4 isoform 3
NM_001260476.2	NP_001247405.1	tRNA (guanine-N(7)-)-methyltransferase non-catalytic subunit WDR4 isoform 3
NM_001260477.2	NP_001247406.1	tRNA (guanine-N(7)-)-methyltransferase non-catalytic subunit WDR4 isoform 3
NM_018669.6	NP_061139.2	tRNA (guanine-N(7)-)-methyltransferase non-catalytic subunit WDR4 isoform 1
NM_033661.5	NP_387510.1	tRNA (guanine-N(7)-)-methyltransferase non-catalytic subunit WDR4 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables enzyme activator activity	IDA IDA: Inferred from direct assay	36599982	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	15861136	GOA
enables tRNA methyltransferase activator activity	IDA IDA: Inferred from direct assay	36599982	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in tRNA (guanine-N7)-methylation	IDA IDA: Inferred from direct assay	36599982	GOA
involved in tRNA modification	IDA IDA: Inferred from direct assay	15861136	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in nucleus	IDA IDA: Inferred from direct assay	15861136	GOA
part of tRNA (m7G46) methyltransferase complex	IDA IDA: Inferred from direct assay	36599982	GOA
part of tRNA methyltransferase complex	IDA IDA: Inferred from direct assay	12403464	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

WDR4 Protein Structure

WD40

0
100
200
300
412 a.a.

Protein Preferred Names

Protein Names

tRNA (guanine-N(7)-)-methyltransferase non-catalytic subunit WDR4

TRM82 tRNA methyltransferase 82 homolog

WDR4 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	WDR4	P57081	RABGGTB	Homo sapiens	P53611	Y2H Prey Pooling	25416956
Intra	WDR4	P57081	RABGGTB	Homo sapiens	P53611	Y2H Prey Pooling	32296183
Intra	WDR4	P57081	RABGGTB	Homo sapiens	P53611	Y2H Array	25416956
Intra	WDR4	P57081	RABGGTB	Homo sapiens	P53611	Y2H Array	32296183
Intra	WDR4	P57081	FEN1	Homo sapiens	P39748	Pull Down	26751069
Intra	WDR4	P57081	FEN1	Homo sapiens	P39748	Fluorescence Spectr	26751069
Intra	WDR4	P57081	FEN1	Homo sapiens	P39748	Anti Tag CoIP	26751069
Intra	WDR4	P57081	FEN1	Homo sapiens	P39748	Anti Bait CoIP	26751069
Intra	WDR4	P57081	METTL1	Homo sapiens	Q9UBP6	Y2H Prey Pooling	32296183
Intra	WDR4	P57081	METTL1	Homo sapiens	Q9UBP6	Y2H Prey Pooling	25416956
Intra	WDR4	P57081	METTL1	Homo sapiens	Q9UBP6	Validated Y2H	32296183
Intra	WDR4	P57081	METTL1	Homo sapiens	Q9UBP6	Y2H Array	25416956
Intra	WDR4	P57081	METTL1	Homo sapiens	Q9UBP6	Y2H Array	32296183
Intra	WDR4	P57081	METTL1	Homo sapiens	Q9UBP6	Anti Tag CoIP	33961781
Intra	WDR4	P57081	METTL1	Homo sapiens	Q9UBP6	Anti Tag CoIP	26751069
Intra	WDR4	P57081	FAM118A	Homo sapiens	Q9NWS6	Y2H Array	25416956
Intra	WDR4	P57081	FAM118A	Homo sapiens	Q9NWS6	Y2H Array	32296183
Intra	WDR4	P57081	FAM118A	Homo sapiens	Q9NWS6	Validated Y2H	32296183
Intra	WDR4	P57081	FAM118A	Homo sapiens	Q9NWS6	Y2H Prey Pooling	25416956
Intra	WDR4	P57081	FAM118A	Homo sapiens	Q9NWS6	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Microcephaly, Growth Deficiency, Seizures, And Brain Malformations

MIGSB

Galloway-Mowat Syndrome 6

GAMOS6

Galloway-Mowat Syndrome

Galloway Mowat Syndrome	Galloway Syndrome
Hiatal Hernia-Microcephaly-Nephrosis, Galloway Type	Microcephaly Nephrosis Syndrome
Microcephaly, Hiatal Hernia, And Nephrotic Syndrome	Nephrosis Neuronal Dysmigration Syndrome
Microcephaly-Hiatus Hernia-Nephrotic Syndrome	Nephrosis-Neuronal Dysmigration Syndrome

Galloway-Mowat Syndrome 1

Galloway Syndrome	Nephrosis-Neuronal Dysmigration Syndrome
Nephrosis-Microcephaly Syndrome	Camos
Scar5	GAMOS1
Microcephaly, Hiatal Hernia, And Nephrotic Syndrome	Microcephaly, Hiatal Hernia And Nephrotic Syndrome
Cerebellar Ataxia With Mental Retardation, Optic Atrophy, And Skin Abnormalities	Spinocerebellar Ataxia, Autosomal Recessive 5, Formerly
Scar5, Formerly	Spinocerebellar Ataxia Autosomal Recessive 5
Cerebellar Ataxia With Intellectual Disability Optic Atrophy And Skin Abnormalities	Camos Syndrome
Cerebellar Ataxia-Intellectual Disability-Optic Atrophy-Skin Abnormalities Syndrome	Galloway-Mowat Syndrome
Spinocerebellar Ataxia, Autosomal Recessive, 5	Galloway Mowat Syndrome
Spinocerebellar Ataxia, Autosomal Recessive 5

Seckel Syndrome

Microcephalic Primordial Dwarfism	Bird-Headed Dwarfism
Harper'S Syndrome	Virchow-Seckel Dwarfism
Nanocephalic Dwarfism	Sckl
Seckel-Type Dwarfism

Lissencephaly

Pachygyria	Broad Gyri Of Cerebrum
Large Gyri Of Cerebrum	Macrogyria

Isolated Growth Hormone Deficiency, Type Ia

Ighd Ia	Primordial Dwarfism
Isolated Growth Hormone Deficiency Type Ia	Sexual Ateleiotic Dwarfism
Pituitary Dwarfism I	IGHD1A
Illig-Type Growth Hormone Deficiency	Growth Hormone Deficiency, Isolated, Type Ia
Congenital Ighd Type Ia	Congenital Isolated Gh Deficiency Type Ia
Congenital Isolated Growth Hormone Deficiency Type Ia	Pituitary Dwarfism 1
Growth Hormone Deficiency, Isolated, Autosomal Recessive	Autosomal Recessive Isolated Growth Hormone Deficiency
Isolated Growth Hormone Deficiency Type 1a	Congenital Ighd
Congenital Isolated Gh Deficiency	Congenital Isolated Growth Hormone Deficiency
Growth Hormone Deficiency, Isolated Autosomal Recessive	Illig Type Growth Hormone Deficiency
Non-Acquired Isolated Growth Hormone Deficiency	Growth Hormone Deficiency, Isolated, 1a
Growth Hormone Deficiency Isolated Autosomal Recessive	Dwarfism, Primordial
Dwarfism

Polymicrogyria

Pmg

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Non-Syndromic X-Linked Intellectual Disability

X-Linked Non-Syndromic Intellectual Disability	Non-Specific X-Linked Mental Retardation
X-Linked Non-Specific Intellectual Disability

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-162080	METTL1-WDR4-IN-1	Inhibitor	98.87%	Unkown
HY-162082	METTL1-WDR4-IN-2	Inhibitor	99.71%	Unkown
HY-RS15777	WDR4 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	WDR4	VGNC	VGNC:81794
Bos taurus	WDR4	VGNC	VGNC:36897
Rattus norvegicus	WDR4	RGD	RGD:1585179
Canis familiaris	WDR4	VGNC	VGNC:48365
Mus musculus	WDR4	MGD	MGI:1889002
Felis catus	WDR4	VGNC	VGNC:67031
Others	WDR4	NCBI

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