TDRD7
Tudor domain-containing protein 7
Also known as: PCTAIRE2BP, TDRD7_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8NHU6
- Gene
- TDRD7
- Ensembl
- ENSG00000196116
- Chromosome
- 9
- Canonical length
- 1098 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Cytoplasmic bodies
OverviewNCBI Gene
The protein encoded by this gene belongs to the Tudor family of proteins. This protein contains conserved Tudor domains and LOTUS domains. It is a component of RNA granules, which function in RNA processing. Mutations in this gene have been associated with cataract formation in mouse and human. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
Canonical amino-acid sequenceUniProt
1098 residues, UniProt reviewed canonical sequence.
>Q8NHU6|TDRD7
1 MLEGDLVSKM LRAVLQSHKN GVALPRLQGE YRSLTGDWIP FKQLGFPTLE AYLRSVPAVV
61 RIETSRSGEI TCYAMACTET ARIAQLVARQ RSSKRKTGRQ VNCQMRVKKT MPFFLEGKPK
121 ATLRQPGFAS NFSVGKKPNP APLRDKGNSV GVKPDAEMSP YMLHTTLGNE AFKDIPVQRH
181 VTMSTNNRFS PKASLQPPLQ MHLSRTSTKE MSDNLNQTVE KPNVKPPASY TYKMDEVQNR
241 IKEILNKHNN GIWISKLPHF YKELYKEDLN QGILQQFEHW PHICTVEKPC SGGQDLLLYP
301 AKRKQLLRSE LDTEKVPLSP LPGPKQTPPL KGCPTVMAGD FKEKVADLLV KYTSGLWASA
361 LPKAFEEMYK VKFPEDALKN LASLSDVCSI DYISGNPQKA ILYAKLPLPT DKIQKDAGQA
421 HGDNDIKAMV EQEYLQVEES IAESANTFME DITVPPLMIP TEASPSVLVV ELSNTNEVVI
481 RYVGKDYSAA QELMEDEMKE YYSKNPKITP VQAVNVGQLL AVNAEEDAWL RAQVISTEEN
541 KIKVCYVDYG FSENVEKSKA YKLNPKFCSL SFQATKCKLA GLEVLSDDPD LVKVVESLTC
601 GKIFAVEILD KADIPLVVLY DTSGEDDINI NATCLKAICD KSLEVHLQVD AMYTNVKVTN
661 ICSDGTLYCQ VPCKGLNKLS DLLRKIEDYF HCKHMTSECF VSLPFCGKIC LFHCKGKWLR
721 VEITNVHSSR ALDVQFLDSG TVTSVKVSEL REIPPRFLQE MIAIPPQAIK CCLADLPQSI
781 GMWTPDAVLW LRDSVLNCSD CSIKVTKVDE TRGIAHVYLF TPKNFPDPHR SINRQITNAD
841 LWKHQKDVFL SAISSGADSP NSKNGNMPMS GNTGENFRKN LTDVIKKSMV DHTSAFSTEE
901 LPPPVHLSKP GEHMDVYVPV ACHPGYFVIQ PWQEIHKLEV LMEEMILYYS VSEERHIAVE
961 KDQVYAAKVE NKWHRVLLKG ILTNGLVSVY ELDYGKHELV NIRKVQPLVD MFRKLPFQAV
1021 TAQLAGVKCN QWSEEASMVF RNHVEKKPLV ALVQTVIENA NPWDRKVVVY LVDTSLPDTD
1081 TWIHDFMSEY LIELSKVNLocalizationUniProt · AlphaFold · HPA
Whether an antibody against TDRD7 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)
- 0.38
- Highest tissue expression
- 58 nTPM
Expression across tissuesHPA
Tissue
- retina: 58 nTPM
- testis: 35 nTPM
- spinal cord: 16 nTPM
- duodenum: 15 nTPM
- colon: 14 nTPM
- rectum: 13 nTPM
Single-cell type
- rod photoreceptor cells: 214 nCPM
- microglia: 87 nCPM
- cone photoreceptor cells: 83 nCPM
- retinal pigment epithelial cells: 73 nCPM
- tuft cells: 58 nCPM
- podocytes: 55 nCPM
Immune cell
- eosinophil: 7.2 nTPM
- intermediate monocyte: 4.3 nTPM
- neutrophil: 4.2 nTPM
- non-classical monocyte: 4.2 nTPM
- myeloid DC: 3.2 nTPM
- memory B-cell: 3 nTPM
Brain region
- white matter: 23 nTPM
- spinal cord: 21 nTPM
- medulla oblongata: 21 nTPM
- basal ganglia: 18 nTPM
- hypothalamus: 18 nTPM
- cerebellum: 18 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about TDRD7.
Disease | AllUniProt
Conditions TDRD7 is implicated in, by any mechanism.
- Cataract 36 (CTRCT36) MIM:613887
Disease | GeneticClinVar
10 pathogenic / likely-pathogenic of 308 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Cataract 36
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)
- 0.48
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.99
- DepMap mean gene effect
- 0.01
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- lens fiber cell differentiation
- lens morphogenesis in camera-type eye
- P granule organization
- piRNA processing
- post-transcriptional regulation of gene expression
- spermatogenesis
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Tudor domain
- OST-HTH/LOTUS domain
- SNase-like, OB-fold superfamily
- LOTUS-like domain
- Tudor domain-containing
- Tudor domain
- OST-HTH/LOTUS domain
- TDRD7, third LOTUS domain
- TDRD7, second Tudor domain
- TDRD7, third Tudor domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of TDRD7 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads TDRD7 as an antibody target. Whether an autoantibody or antibody against TDRD7 could matter depends on whether native TDRD7 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
TDRD7 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 TDRD7 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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