Format

Send to:

Choose Destination

WDR72 WD repeat domain 72 [ Homo sapiens (human) ]

Gene ID: 256764, updated on 15-Jun-2019

Summary

Official Symbol
WDR72provided by HGNC
Official Full Name
WD repeat domain 72provided by HGNC
Primary source
HGNC:HGNC:26790
See related
Ensembl:ENSG00000166415 MIM:613214
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AI2A3
Summary
This gene encodes a protein with eight WD-40 repeats. Mutations in this gene have been associated with amelogenesis imperfecta hypomaturation type 2A3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]
Expression
Biased expression in kidney (RPKM 35.1), thyroid (RPKM 25.6) and 3 other tissues See more
Orthologs

Genomic context

See WDR72 in Genome Data Viewer
Location:
15q21.3
Exon count:
26
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 15 NC_000015.10 (53513741..53762878, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (53805938..54055075, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107983981 Neighboring gene uncharacterized LOC105370823 Neighboring gene long intergenic non-protein coding RNA 2490 Neighboring gene uncharacterized LOC105370826 Neighboring gene RNA, U2 small nuclear 53, pseudogene Neighboring gene RNA, U6 small nuclear 449, pseudogene Neighboring gene uncharacterized LOC105370827 Neighboring gene unc-13 homolog C

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Amelogenesis imperfecta, hypomaturation type, IIA3
MedGen: C2750771 OMIM: 613211 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association study of hematological and biochemical traits in a Japanese population.
NHGRI GWA Catalog
Genome-wide study identifies PTPRO and WDR72 and FOXQ1-SUMO1P1 interaction associated with neurocognitive function.
NHGRI GWA Catalog
Joint influence of small-effect genetic variants on human longevity.
NHGRI GWA Catalog
Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.
NHGRI GWA Catalog
New loci associated with kidney function and chronic kidney disease.
NHGRI GWA Catalog

General gene information

Markers

Homology

Clone Names

  • FLJ38736, MGC126663, MGC126665

Gene Ontology Provided by GOA

Process Evidence Code Pubs
enamel mineralization IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
endosome IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
WD repeat-containing protein 72

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_017034.2 RefSeqGene

    Range
    5001..250922
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001277176.1NP_001264105.1  WD repeat-containing protein 72 isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains multiple differences, compared to variant 1, including the lack of multiple 5' coding exons. It represents use of an internal promoter. The encoded isoform (b) is shorter and has a distinct N-terminus, compared to isoform a.
    Source sequence(s)
    AC066614, AK310211, CK299278, DA748816
    Consensus CDS
    CCDS73730.1
    UniProtKB/TrEMBL
    A0A087WTC3
    Related
    ENSP00000477754.1, ENST00000614174.4
  2. NM_182758.4NP_877435.3  WD repeat-containing protein 72 isoform a

    See identical proteins and their annotated locations for NP_877435.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (a).
    Source sequence(s)
    AC066611, AC066614, AK096055, BC101614, BX537884, CK299278
    Consensus CDS
    CCDS10151.1
    UniProtKB/Swiss-Prot
    Q3MJ13
    Related
    ENSP00000353699.5, ENST00000360509.10
    Conserved Domains (3) summary
    COG2319
    Location:404596
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:2060
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:404595
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

RNA

  1. NR_102334.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' exon, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC066611, AC066614, BC101614, BX648571, CK299278
  2. NR_102335.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) contains multiple differences, compared to variant 1, including the lack of multiple 5' exons. It represents use of an internal promoter. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC066614, AK310211, CK299278
    Related
    ENST00000567224.1
  3. NR_102336.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) contains multiple differences, compared to variant 1, including the lack of multiple 5' exons. It represents use of an internal promoter. This variant is represented as non-coding because it lacks almost all of the coding region found in variants 1 and 2.
    Source sequence(s)
    AC066614, CK299278, DA736178

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

    Range
    53513741..53762878 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017022061.1XP_016877550.1  WD repeat-containing protein 72 isoform X1

    UniProtKB/Swiss-Prot
    Q3MJ13
    Related
    ENSP00000453378.1, ENST00000557913.5
    Conserved Domains (3) summary
    COG2319
    Location:404596
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:2060
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:404595
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  2. XM_011521435.2XP_011519737.1  WD repeat-containing protein 72 isoform X1

    See identical proteins and their annotated locations for XP_011519737.1

    UniProtKB/Swiss-Prot
    Q3MJ13
    Conserved Domains (3) summary
    COG2319
    Location:404596
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:2060
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:404595
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  3. XM_011521433.2XP_011519735.1  WD repeat-containing protein 72 isoform X1

    See identical proteins and their annotated locations for XP_011519735.1

    UniProtKB/Swiss-Prot
    Q3MJ13
    Conserved Domains (3) summary
    COG2319
    Location:404596
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:2060
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:404595
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  4. XM_011521437.2XP_011519739.1  WD repeat-containing protein 72 isoform X3

    Conserved Domains (3) summary
    COG2319
    Location:364556
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:2060
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:364555
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  5. XM_011521436.2XP_011519738.1  WD repeat-containing protein 72 isoform X2

    Related
    ENSP00000452765.1, ENST00000559418.5
    Conserved Domains (3) summary
    COG2319
    Location:404590
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:2060
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:404589
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
Support Center