IRF2BPL

Protein identityUniProt · HPA

UniProt accession

Q9H1B7

Gene

IRF2BPL

Ensembl

ENSG00000119669

Chromosome

14

Canonical length

796 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Plasma proteins, Potential drug targets, Predicted intracellular proteins

Subcellular location

Nucleoplasm

OverviewNCBI Gene

This gene encodes a transcription factor that may play a role in regulating female reproductive function. [provided by RefSeq, Jun 2012]

Canonical amino-acid sequenceUniProt

796 residues, UniProt reviewed canonical sequence.

>Q9H1B7|IRF2BPL
     1  MSAAQVSSSR RQSCYLCDLP RMPWAMIWDF SEPVCRGCVN YEGADRIEFV IETARQLKRA
    61  HGCFQDGRSP GPPPPVGVKT VALSAKEAAA AAAAAAAAAA AAQQQQQQQQ QQQQQQQQQQ
   121  QQQQQQQLNH VDGSSKPAVL AAPSGLERYG LSAAAAAAAA AAAAVEQRSR FEYPPPPVSL
   181  GSSSHTARLP NGLGGPNGFP KPTPEEGPPE LNRQSPNSSS AAASVASRRG THGGLVTGLP
   241  NPGGGGGPQL TVPPNLLPQT LLNGPASAAV LPPPPPHALG SRGPPTPAPP GAPGGPACLG
   301  GTPGVSATSS SASSSTSSSV AEVGVGAGGK RPGSVSSTDQ ERELKEKQRN AEALAELSES
   361  LRNRAEEWAS KPKMVRDTLL TLAGCTPYEV RFKKDHSLLG RVFAFDAVSK PGMDYELKLF
   421  IEYPTGSGNV YSSASGVAKQ MYQDCMKDFG RGLSSGFKYL EYEKKHGSGD WRLLGDLLPE
   481  AVRFFKEGVP GADMLPQPYL DASCPMLPTA LVSLSRAPSA PPGTGALPPA APSGRGAAAS
   541  LRKRKASPEP PDSAEGALKL GEEQQRQQWM ANQSEALKLT MSAGGFAAPG HAAGGPPPPP
   601  PPLGPHSNRT TPPESAPQNG PSPMAALMSV ADTLGTAHSP KDGSSVHSTT ASARRNSSSP
   661  VSPASVPGQR RLASRNGDLN LQVAPPPPSA HPGMDQVHPQ NIPDSPMANS GPLCCTICHE
   721  RLEDTHFVQC PSVPSHKFCF PCSRESIKAQ GATGEVYCPS GEKCPLVGSN VPWAFMQGEI
   781  ATILAGDVKV KKERDP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against IRF2BPL 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)

0.56

Highest tissue expression

31 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about IRF2BPL.

Disease | AllUniProt

Conditions IRF2BPL is implicated in, by any mechanism.

• Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures (NEDAMSS) MIM:618088

Disease | GeneticClinVar

98 pathogenic / likely-pathogenic of 574 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
• Inborn genetic diseases
• IRF2BPL-related disorder
• Neurodevelopmental disorder
• Global developmental delay

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)

0.41

gnomAD pLI

0.84

gnomAD missense Z

0.73

DepMap mean gene effect

-0.05

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

• development of secondary female sexual characteristics
• negative regulation of transcription by RNA polymerase II
• nervous system development
• positive regulation of transcription by RNA polymerase II
• protein ubiquitination

Molecular functions

• ubiquitin protein ligase activity
• zinc ion binding

Cellular components

• extracellular space
• nucleoplasm
• nucleus

Protein domainsUniProt · Pfam · InterPro

• Interferon regulatory factor 2-binding protein 1/2-like, zinc finger
• Interferon regulatory factor 2-binding protein 1/2, C3HC4-type RING finger superfamily
• Interferon regulatory factor 2-binding protein 1/2-like, C3HC4 zinc finger domain
• IRF-2BP1/2-like, middle domain
• Interferon regulatory factor 2-binding protein zinc finger
• IRF-2BP1/2 C3HC4 zinc finger domain
• IRF-2BP1/2 middle domain

KeywordsUniProt

• Coiled coil
• Epilepsy
• Intellectual disability
• Isopeptide bond
• Metal-binding
• Nucleus
• Phosphoprotein
• Transferase
• Triplet repeat expansion
• Ubl conjugation
• Zinc
• Zinc-finger

InteractionsUniProt · HPA

Protein binding partners of IRF2BPL in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• CTNNB1
• IRF2BP1
• VGLL4