Seroatlas · Human Serome Atlas

GTF2IRD2

General transcription factor II-I repeat domain-containing protein 2A

Also known as: FLJ37938, GTD2A_HUMAN, GTF2IRD2A

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

Protein identityUniProt · HPA

UniProt accession: Q86UP8
Gene: GTF2IRD2
Ensembl: ENSG00000196275
Chromosome: 7
Canonical length: 949 aa
Protein class: Disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoplasm

OverviewNCBI Gene

This gene is one of several closely related genes on chromosome 7 encoding proteins containing helix-loop-helix motifs. These proteins may function as regulators of transcription. The encoded protein is unique in that its C-terminus is derived from CHARLIE8 transposable element sequence. This gene is located in a region of chromosome 7 that is deleted in Williams-Beuren syndrome, and loss of this locus may contribute to the cognitive phenotypes observed in this disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

Canonical amino-acid sequenceUniProt

949 residues, UniProt reviewed canonical sequence.

>Q86UP8|GTF2IRD2
     1  MAQVAVSTLP VEEESSSETR MVVTFLVSAL ESMCKELAKS KAEVACIAVY ETDVFVVGTE
    61  RGCAFVNART DFQKDFAKYC VAEGLCEVKP PCPVNGMQVH SGETEILRKA VEDYFCFCYG
   121  KALGTTVMVP VPYEKMLRDQ SAVVVQGLPE GVAFQHPENY DLATLKWILE NKAGISFIIN
   181  RPFLGPESQL GGPGMVTDAE RSIVSPSESC GPINVKTEPM EDSGISLKAE AVSVKKESED
   241  PNYYQYNMQG SHPSSTSNEV IEMELPMEDS TPLVPSEEPN EDPEAEVKIE GNTNSSSVTN
   301  SAAGVEDLNI VQVTVPDNEK ERLSSIEKIK QLREQVNDLF SRKFGEAIGV DFPVKVPYRK
   361  ITFNPGCVVI DGMPPGVVFK APGYLEISSM RRILEAAEFI KFTVIRPLPG LELSNVGKRK
   421  IDQEGRVFQE KWERAYFFVE VQNIPTCLIC KQSMSVSKEY NLRRHYQTNH SKHYDQYMER
   481  MRDEKLHELK KGLRKYLLGS SDTECPEQKQ VFANPSPTQK SPVQPVEDLA GNLWEKLREK
   541  IRSFVAYSIA IDEITDINNT TQLAIFIRGV DENFDVSEEL LDTVPMTGTK SGNEIFSRVE
   601  KSLKNFCIDW SKLVSVASTG TPAMVDANNG LVTKLKSRVA TFCKGAELKS ICCIIHPESL
   661  CAQKLKMDHV MDVVVKSVNW ICSRGLNHSE FTTLLYELDS QYGSLLYYTE IKWLSRGLVL
   721  KRFFESLEEI DSFMSSRGKP LPQLSSIDWI RDLAFLVDMT MHLNALNISL QGHSQIVTQM
   781  YDLIRAFLAK LCLWETHLTR NNLAHFPTLK LASRNESDGL NYIPKIAELQ TEFQKRLSDF
   841  KLYESELTLF SSPFSTKIDS VHEELQMEVI DLQCNTVLKT KYDKVGIPEF YKYLWGSYPK
   901  YKHHCAKILS MFGSTYICEQ LFSIMKLSKT KYCSQLKDSQ WDSVLHIAT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GTF2IRD2 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: 29 nTPM

Expression across tissuesHPA

Tissue

skeletal muscle: 29 nTPM
ovary: 17 nTPM
heart muscle: 17 nTPM
liver: 16 nTPM
cervix: 15 nTPM
colon: 15 nTPM

Single-cell type

renal collecting duct intercalated cells: 55 nCPM
distal convoluted tubule cells: 52 nCPM
renal connecting tubule cells: 43 nCPM
loop of henle epithelial cells: 41 nCPM
choroid plexus epithelial cells: 40 nCPM
renal collecting duct principal cells: 39 nCPM

Immune cell

memory B-cell: 18 nTPM
plasmacytoid DC: 12 nTPM
basophil: 12 nTPM
naive B-cell: 11 nTPM
memory CD8 T-cell: 8.7 nTPM
naive CD4 T-cell: 7.9 nTPM

Brain region

white matter: 9.1 nTPM
hypothalamus: 7.5 nTPM
midbrain: 7.2 nTPM
thalamus: 7.2 nTPM
cerebellum: 7 nTPM
cerebral cortex: 7 nTPM

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): 1.17
gnomAD pLI: 0
gnomAD missense Z: 1.12

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Molecular functions

Cellular components

nucleus

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads GTF2IRD2 as an antibody target. Whether an autoantibody or antibody against GTF2IRD2 could matter depends on whether native GTF2IRD2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

GTF2IRD2 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 GTF2IRD2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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