Seroatlas · Human Serome Atlas

ITGB1BP2

Integrin beta-1-binding protein 2

Also known as: CHORDC3, ITBP2_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q9UKP3
Gene: ITGB1BP2
Ensembl: ENSG00000147166
Chromosome: X
Canonical length: 347 aa
Protein class: Predicted intracellular proteins
Subcellular location: Cytosol

OverviewNCBI Gene

This gene encodes a protein with two cysteine and histidine-rich (CHORD) domains, PXXP motifs, YXXI/P motifs, putative SH2 and SH3 domain binding motifs, and an acidic region at the C-terminus that can bind calcium. Two hybrid analysis showed that this protein interacts with the cytoplasmic domain of the beta 1 integrin subunit and is thought to act as a chaperone protein. Studies in the mouse ortholog of this gene indicate that absence of this gene in mouse results in failed cardiac hypertrophy in response to mechanical stress. Alternative splicing results in multiple transcript variants encoding different isoforms, including an isoform that lacks several domains, including one of the CHORD domains. [provided by RefSeq, May 2017]

Canonical amino-acid sequenceUniProt

347 residues, UniProt reviewed canonical sequence.

>Q9UKP3|ITGB1BP2
     1  MSLLCRNKGC GQHFDPNTNL PDSCCHHPGV PIFHDALKGW SCCRKRTVDF SEFLNIKGCT
    61  MGPHCAEKLP EAPQPEGPAT SSSLQEQKPL NVIPKSAETL RRERPKSELP LKLLPLNISQ
   121  ALEMALEQKE LDQEPGAGLD SLIRTGSSCQ NPGCDAVYQG PESDATPCTY HPGAPRFHEG
   181  MKSWSCCGIQ TLDFGAFLAQ PGCRVGRHDW GKQLPASCRH DWHQTDSLVV VTVYGQIPLP
   241  AFNWVKASQT ELHVHIVFDG NRVFQAQMKL WGVINVEQSS VFLMPSRVEI SLVKADPGSW
   301  AQLEHPDALA KKARAGVVLE MDEEESDDSD DDLSWTEEEE EEEAMGE

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ITGB1BP2 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: Unknown
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.39
Highest tissue expression: 86 nTPM

Expression across tissuesHPA

Tissue

heart muscle: 86 nTPM
tongue: 50 nTPM
skeletal muscle: 43 nTPM
smooth muscle: 15 nTPM
endometrium: 14 nTPM
seminal vesicle: 9.7 nTPM

Single-cell type

peritubular myoid cells: 8.1 nCPM
megakaryocytes: 6.2 nCPM
smooth muscle cells: 5 nCPM
cardiomyocytes: 4.9 nCPM
myonuclei: 4.6 nCPM
vascular smooth muscle cells: 3 nCPM

Immune cell

eosinophil: 0.1 nTPM
basophil: 0 nTPM
classical monocyte: 0 nTPM
gdT-cell: 0 nTPM
intermediate monocyte: 0 nTPM
MAIT T-cell: 0 nTPM

Brain region

cerebellum: 2 nTPM
cerebral cortex: 1.4 nTPM
pons: 1.3 nTPM
thalamus: 1.3 nTPM
white matter: 1.3 nTPM
basal ganglia: 1.2 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): 1.34
gnomAD pLI: 0
gnomAD missense Z: 0.78
DepMap mean gene effect: 0.18
DepMap dependency class: none

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

Z disc

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of ITGB1BP2 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 ITGB1BP2 as an antibody target. Whether an autoantibody or antibody against ITGB1BP2 could matter depends on whether native ITGB1BP2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ITGB1BP2 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 ITGB1BP2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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