Seroatlas · Human Serome Atlas

GTF2IRD2B

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

Also known as: GTD2B_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q6EKJ0
Gene: GTF2IRD2B
Ensembl: ENSG00000174428
Chromosome: 7
Canonical length: 949 aa
Protein class: Disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoplasm

OverviewNCBI Gene

This gene encodes a glycosylated phosphoprotein with a leucine zipper motif, two helix-loop-helix motifs (I repeats) that are similar to domains found in the TFII-I family of transcription factors, one CHARLIE8 transposable element-like sequence, and a BED zinc finger. This gene lies within a region that is deleted in Williams-Beuren syndrome. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

949 residues, UniProt reviewed canonical sequence.

>Q6EKJ0|GTF2IRD2B
     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 SKHYDQYTER
   481  MRDEKLHELK KGLRKYLLGS SDTECPEQKQ VFANPSPTQK SPVQPVEDLA GNLWEKLREK
   541  IRSFVAYSIA IDEITDINNT TQLAIFIRGV DENFDVSEEL LDTVPMTGTK SGNEIFLRVE
   601  KSLKKFCINW SRLVSVASTG TPAMVDANNG LVTKLKSRVA TFCKGAELKS ICCIIHPESL
   661  CAQKLKMDHV MDVVVKSVNW ICSRGLNHSE FTTLLYELDS QYGSLLYYTE IKWLSRGLVL
   721  KRFFESLEEI DSFMSSRGKP LPQLSSIDWI RDLAFLVDMT MHLNALNISL QGHSQIVTQM
   781  YDLIRAFLAK LCLWETHLTR NNLAHFPTLK LVSRNESDGL NYIPKIAELK TEFQKRLSDF
   841  KLYESELTLF SSPFSTKIDS VHEELQMEVI DLQCNTVLKT KYDKVGIPEF YKYLWGSYPK
   901  YKHHCAKILS MFGSTYICEQ LFSIMKLSKT KYCSQLKDSQ WDSVLHIAT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GTF2IRD2B 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: 34 nTPM

Expression across tissuesHPA

Tissue

skeletal muscle: 34 nTPM
ovary: 27 nTPM
tongue: 27 nTPM
fallopian tube: 16 nTPM
thymus: 16 nTPM
pancreas: 16 nTPM

Single-cell type

myonuclei: 150 nCPM
ovarian stromal cells: 78 nCPM
leydig cells: 78 nCPM
medullary thymic epithelial cells: 77 nCPM
renal collecting duct intercalated cells: 76 nCPM
thymocytes: 69 nCPM

Immune cell

memory B-cell: 15 nTPM
naive B-cell: 7 nTPM
eosinophil: 5 nTPM
naive CD4 T-cell: 2.6 nTPM
T-reg: 2.6 nTPM
memory CD8 T-cell: 2.1 nTPM

Brain region

white matter: 55 nTPM
thalamus: 39 nTPM
basal ganglia: 38 nTPM
choroid plexus: 38 nTPM
midbrain: 36 nTPM
medulla oblongata: 36 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): 0.64
gnomAD pLI: 0.06
gnomAD missense Z: 1.17

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 GTF2IRD2B as an antibody target. Whether an autoantibody or antibody against GTF2IRD2B could matter depends on whether native GTF2IRD2B is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

GTF2IRD2B 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 GTF2IRD2B as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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