Seroatlas · Human Serome Atlas

WDR72

WD repeat-containing protein 72

Also known as: FLJ38736, WDR72_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q3MJ13
Gene: WDR72
Ensembl: ENSG00000166415
Chromosome: 15
Canonical length: 1102 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Vesicles

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

1102 residues, UniProt reviewed canonical sequence.

>Q3MJ13|WDR72
     1  MRTSLQAVAL WGQKAPPHSI TAIMITDDQR TIVTGSQEGQ LCLWNLSHEL KISAKELLFG
    61  HSASVTCLAR ARDFSKQPYI VSAAENGEMC VWNVTNGQCM EKATLPYRHT AICYYHCSFR
   121  MTGEGWLLCC GEYQDVLIID AKTLAVVHSF RSSQFPDWIN CMCIVHSMRI QEDSLLVVSV
   181  AGELKVWDLS SSINSIQEKQ DVYEKESKFL ESLNCQTIRF CTYTERLLLV VFSKCWKVYD
   241  YCDFSLLLTE VSRNGQFFAG GEVIAAHRIL IWTEDGHSYI YQLLNSGLSK SIYPADGRVL
   301  KETIYPHLLC STSVQENKEQ SRPFVMGYMN ERKEPFYKVL FSGEVSGRIT LWHIPDVPVS
   361  KFDGSPREIP VTATWTLQDN FDKHDTMSQS IIDYFSGLKD GAGTAVVTSS EYIPSLDKLI
   421  CGCEDGTIII TQALNAAKAR LLEGGSLVKD SPPHKVLKGH HQSVTSLLYP HGLSSKLDQS
   481  WMLSGDLDSC VILWDIFTEE ILHKFFLEAG PVTSLLMSPE KFKLRGEQII CCVCGDHSVA
   541  LLHLEGKSCL LHARKHLFPV RMIKWHPVEN FLIVGCADDS VYIWEIETGT LERHETGERA
   601  RIILNCCDDS QLVKSVLPIA SETLKHKSIE QRSSSPYQLG PLPCPGLQVE SSCKVTDAKF
   661  CPRPFNVLPV KTKWSNVGFH ILLFDLENLV ELLLPTPLSD VDSSSSFYGG EVLRRAKSTV
   721  EKKTLTLRKS KTACGPLSAE ALAKPITESL AQGDNTIKFS EENDGIKRQK KMKISKKMQP
   781  KPSRKVDASL TIDTAKLFLS CLLPWGVDKD LDYLCIKHLN ILKLQGPISL GISLNEDNFS
   841  LMLPGWDLCN SGMIKDYSGV NLFSRKVLDL SDKYTATLPN QVGIPRGLEN NCDSLRESDT
   901  IVYLLSRLFL VNKLVNMPLE LACRVGSSFR MESIHNKMRG AGNDILNMSS FYSCLRNGKN
   961  ESHVPEADLS LLKLISCWRD QSVQVTEAIQ AVLLAEVQQH MKSLGKIPVN SQPVSMAENG
  1021  NCEMKQMLPK LEWTEELELQ CVRNTLPLQT PVSPVKHDSN SNSANFQDVE DMPDRCALEE
  1081  SESPGEPRHH SWIAKVCPCK VS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against WDR72 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.36
Highest tissue expression: 99 nTPM

Expression across tissuesHPA

Tissue

kidney: 99 nTPM
thyroid gland: 54 nTPM
liver: 31 nTPM
salivary gland: 17 nTPM
cervix: 6.8 nTPM
gallbladder: 3.7 nTPM

Single-cell type

renal collecting duct intercalated cells: 1,192 nCPM
proximal tubule cells: 1,125 nCPM
salivary duct cells: 581 nCPM
distal convoluted tubule cells: 560 nCPM
renal connecting tubule cells: 511 nCPM
salivary ionocytes: 378 nCPM

Immune cell

basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM
intermediate monocyte: 0 nTPM
MAIT T-cell: 0 nTPM

Brain region

midbrain: 0.9 nTPM
white matter: 0.4 nTPM
medulla oblongata: 0.3 nTPM
amygdala: 0.2 nTPM
basal ganglia: 0.2 nTPM
cerebral cortex: 0.2 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about WDR72.

Disease | AllUniProt

Conditions WDR72 is implicated in, by any mechanism.

Amelogenesis imperfecta, hypomaturation type, 2A3 (AI2A3) MIM:613211

Disease | GeneticClinVar

48 pathogenic / likely-pathogenic of 505 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Amelogenesis imperfecta hypomaturation type 2A3
Amelogenesis imperfecta
Distal renal tubular acidosis
Renal tubulopathies
Renal tubular acidosis, distal, 4, with hemolytic anemia

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 1.07
gnomAD pLI: 0
gnomAD missense Z: -0.96
DepMap mean gene effect: 0.04
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads WDR72 as an antibody target. Whether an autoantibody or antibody against WDR72 could matter depends on whether native WDR72 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

WDR72 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label WDR72 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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