Seroatlas · Human Serome Atlas

GTF2H2

General transcription factor IIH subunit 2

Also known as: BTF2, BTF2P44, p44, T-BTF2P44, TF2H2_HUMAN, TFIIH

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

Protein identityUniProt · HPA

UniProt accession: Q13888
Gene: GTF2H2
Ensembl: ENSG00000145736
Chromosome: 5
Canonical length: 395 aa
Protein class: Predicted intracellular proteins
Subcellular location: Nuclear speckles

OverviewNCBI Gene

This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. This gene is within the telomeric copy of the duplication. Deletion of this gene sometimes accompanies deletion of the neighboring SMN1 gene in spinal muscular atrophy (SMA) patients but it is unclear if deletion of this gene contributes to the SMA phenotype. This gene encodes the 44 kDa subunit of RNA polymerase II transcription initiation factor IIH which is involved in basal transcription and nucleotide excision repair. Transcript variants for this gene have been described, but their full length nature has not been determined. A second copy of this gene within the centromeric copy of the duplication has been described in the literature. It is reported to be different by either two or four base pairs; however, no sequence data is currently available for the centromeric copy of the gene. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

395 residues, UniProt reviewed canonical sequence.

>Q13888|GTF2H2
     1  MDEEPERTKR WEGGYERTWE ILKEDESGSL KATIEDILFK AKRKRVFEHH GQVRLGMMRH
    61  LYVVVDGSRT MEDQDLKPNR LTCTLKLLEY FVEEYFDQNP ISQIGIIVTK SKRAEKLTEL
   121  SGNPRKHITS LKKAVDMTCH GEPSLYNSLS IAMQTLKHMP GHTSREVLII FSSLTTCDPS
   181  NIYDLIKTLK AAKIRVSVIG LSAEVRVCTV LARETGGTYH VILDESHYKE LLTHHVSPPP
   241  ASSSSECSLI RMGFPQHTIA SLSDQDAKPS FSMAHLDGNT EPGLTLGGYF CPQCRAKYCE
   301  LPVECKICGL TLVSAPHLAR SYHHLFPLDA FQEIPLEEYN GERFCYGCQG ELKDQHVYVC
   361  AVCQNVFCVD CDVFVHDSLH CCPGCIHKIP APSGV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GTF2H2 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): 0.31
Highest tissue expression: 5.9 nTPM

Expression across tissuesHPA

Tissue

lymph node: 5.9 nTPM
smooth muscle: 5.7 nTPM
colon: 4.1 nTPM
kidney: 3.9 nTPM
pancreas: 3.9 nTPM
testis: 3.9 nTPM

Single-cell type

loop of henle epithelial cells: 38 nCPM
distal convoluted tubule cells: 36 nCPM
renal collecting duct intercalated cells: 35 nCPM
proximal tubule cells: 24 nCPM
podocytes: 23 nCPM
renal collecting duct principal cells: 21 nCPM

Immune cell

neutrophil: 3.7 nTPM
myeloid DC: 3.3 nTPM
plasmacytoid DC: 3 nTPM
memory B-cell: 2.9 nTPM
MAIT T-cell: 2.8 nTPM
intermediate monocyte: 2.6 nTPM

Brain region

midbrain: 3.3 nTPM
white matter: 3.3 nTPM
pons: 3.2 nTPM
medulla oblongata: 3.1 nTPM
cerebral cortex: 2.9 nTPM
thalamus: 2.6 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): 1.6
gnomAD pLI: 0.02
gnomAD missense Z: 0.64

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 GTF2H2 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 GTF2H2 as an antibody target. Whether an autoantibody or antibody against GTF2H2 could matter depends on whether native GTF2H2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

GTF2H2 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 GTF2H2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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