WDR4 - WD repeat domain 4 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 10785

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
Molecular Function GO Annotation Evidence References 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 References 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 References 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

WD40: WD domain, G-beta repeat (143 - 171)

WD40

WD40: WD domain, G-beta repeat (185 - 217)

  • 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
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
WDR4 P57081 RABGGTB Homo sapiens P53611 25416956
Intra
WDR4 P57081 RABGGTB Homo sapiens P53611 32296183
Intra
WDR4 P57081 RABGGTB Homo sapiens P53611 25416956
Intra
WDR4 P57081 RABGGTB Homo sapiens P53611 32296183
Intra
WDR4 P57081 FEN1 Homo sapiens P39748 26751069
Intra
WDR4 P57081 FEN1 Homo sapiens P39748 26751069
Intra
WDR4 P57081 FEN1 Homo sapiens P39748 26751069
Intra
WDR4 P57081 FEN1 Homo sapiens P39748 26751069
Intra
WDR4 P57081 METTL1 Homo sapiens Q9UBP6 32296183
Intra
WDR4 P57081 METTL1 Homo sapiens Q9UBP6 25416956
Intra
WDR4 P57081 METTL1 Homo sapiens Q9UBP6 32296183
Intra
WDR4 P57081 METTL1 Homo sapiens Q9UBP6 25416956
Intra
WDR4 P57081 METTL1 Homo sapiens Q9UBP6 32296183
Intra
WDR4 P57081 METTL1 Homo sapiens Q9UBP6 33961781
Intra
WDR4 P57081 METTL1 Homo sapiens Q9UBP6 26751069
Intra
WDR4 P57081 FAM118A Homo sapiens Q9NWS6 25416956
Intra
WDR4 P57081 FAM118A Homo sapiens Q9NWS6 32296183
Intra
WDR4 P57081 FAM118A Homo sapiens Q9NWS6 32296183
Intra
WDR4 P57081 FAM118A Homo sapiens Q9NWS6 25416956
Intra
WDR4 P57081 FAM118A Homo sapiens Q9NWS6 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

WDR4 Antibodies

Cat. No. Product Name Application Reactivity
HY-P83179 WDR4 Antibody (YA2924) WB, IHC-P, ICC/IF, FC Human

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

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