Seroatlas · Human Serome Atlas

GIGYF2

GRB10-interacting GYF protein 2

Also known as: GGYF2_HUMAN, GYF2, KIAA0642, PARK11, PERQ2, PERQ3, TNRC15

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

Protein identityUniProt · HPA

UniProt accession: Q6Y7W6
Gene: GIGYF2
Ensembl: ENSG00000204120
Chromosome: 2
Canonical length: 1299 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Cytosol

OverviewNCBI Gene

This gene contains CAG trinucleotide repeats and encodes a protein containing several stretches of polyglutamine residues. The encoded protein may be involved in the regulation of tyrosine kinase receptor signaling. This gene is located in a chromosomal region that was genetically linked to Parkinson disease type 11, and mutations in this gene were thought to be causative for this disease. However, more recent studies in different populations have been unable to replicate this association. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]

Canonical amino-acid sequenceUniProt

1299 residues, UniProt reviewed canonical sequence.

>Q6Y7W6|GIGYF2
     1  MAAETQTLNF GPEWLRALSS GGSITSPPLS PALPKYKLAD YRYGREEMLA LFLKDNKIPS
    61  DLLDKEFLPI LQEEPLPPLA LVPFTEEEQR NFSMSVNSAA VLRLTGRGGG GTVVGAPRGR
   121  SSSRGRGRGR GECGFYQRSF DEVEGVFGRG GGREMHRSQS WEERGDRRFE KPGRKDVGRP
   181  NFEEGGPTSV GRKHEFIRSE SENWRIFREE QNGEDEDGGW RLAGSRRDGE RWRPHSPDGP
   241  RSAGWREHME RRRRFEFDFR DRDDERGYRR VRSGSGSIDD DRDSLPEWCL EDAEEEMGTF
   301  DSSGAFLSLK KVQKEPIPEE QEMDFRPVDE GEECSDSEGS HNEEAKEPDK TNKKEGEKTD
   361  RVGVEASEET PQTSSSSARP GTPSDHQSQE ASQFERKDEP KTEQTEKAEE ETRMENSLPA
   421  KVPSRGDEMV ADVQQPLSQI PSDTASPLLI LPPPVPNPSP TLRPVETPVV GAPGMGSVST
   481  EPDDEEGLKH LEQQAEKMVA YLQDSALDDE RLASKLQEHR AKGVSIPLMH EAMQKWYYKD
   541  PQGEIQGPFN NQEMAEWFQA GYFTMSLLVK RACDESFQPL GDIMKMWGRV PFSPGPAPPP
   601  HMGELDQERL TRQQELTALY QMQHLQYQQF LIQQQYAQVL AQQQKAALSS QQQQQLALLL
   661  QQFQTLKMRI SDQNIIPSVT RSVSVPDTGS IWELQPTASQ PTVWEGGSVW DLPLDTTTPG
   721  PALEQLQQLE KAKAAKLEQE RREAEMRAKR EEEERKRQEE LRRQQEEILR RQQEEERKRR
   781  EEEELARRKQ EEALRRQREQ EIALRRQREE EERQQQEEAL RRLEERRREE EERRKQEELL
   841  RKQEEEAAKW AREEEEAQRR LEENRLRMEE EAARLRHEEE ERKRKELEVQ RQKELMRQRQ
   901  QQQEALRRLQ QQQQQQQLAQ MKLPSSSTWG QQSNTTACQS QATLSLAEIQ KLEEERERQL
   961  REEQRRQQRE LMKALQQQQQ QQQQKLSGWG NVSKPSGTTK SLLEIQQEEA RQMQKQQQQQ
  1021  QQHQQPNRAR NNTHSNLHTS IGNSVWGSIN TGPPNQWASD LVSSIWSNAD TKNSNMGFWD
  1081  DAVKEVGPRN STNKNKNNAS LSKSVGVSNR QNKKVEEEEK LLKLFQGVNK AQDGFTQWCE
  1141  QMLHALNTAN NLDVPTFVSF LKEVESPYEV HDYIRAYLGD TSEAKEFAKQ FLERRAKQKA
  1201  NQQRQQQQLP QQQQQQPPQQ PPQQPQQQDS VWGMNHSTLH SVFQTNQSNN QQSNFEAVQS
  1261  GKKKKKQKMV RADPSLLGFS VNASSERLNM GEIETLDDY

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GIGYF2 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): 0.58
Highest tissue expression: 38 nTPM

Expression across tissuesHPA

Tissue

parathyroid gland: 38 nTPM
testis: 35 nTPM
skeletal muscle: 35 nTPM
tongue: 30 nTPM
salivary gland: 27 nTPM
thyroid gland: 24 nTPM

Single-cell type

late spermatids: 998 nCPM
early spermatids: 513 nCPM
myonuclei: 383 nCPM
renal collecting duct intercalated cells: 352 nCPM
sertoli cells: 330 nCPM
distal convoluted tubule cells: 275 nCPM

Immune cell

basophil: 39 nTPM
non-classical monocyte: 19 nTPM
neutrophil: 14 nTPM
NK-cell: 13 nTPM
eosinophil: 13 nTPM
myeloid DC: 11 nTPM

Brain region

cerebellum: 85 nTPM
white matter: 80 nTPM
hypothalamus: 75 nTPM
basal ganglia: 72 nTPM
medulla oblongata: 70 nTPM
thalamus: 69 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GIGYF2.

Disease | AllUniProt

Conditions GIGYF2 is implicated in, by any mechanism.

Parkinson disease 11 (PARK11) MIM:607688

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): 0.08
gnomAD pLI: 1
gnomAD missense Z: 2.24
DepMap mean gene effect: -0.24
DepMap dependency class: selective

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

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of GIGYF2 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 GIGYF2 as an antibody target. Whether an autoantibody or antibody against GIGYF2 could matter depends on whether native GIGYF2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

GIGYF2 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 GIGYF2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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