Seroatlas · Human Serome Atlas

RBL2

Retinoblastoma-like protein 2

Also known as: p130, Rb2, RBL2_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q08999
Gene: RBL2
Ensembl: ENSG00000103479
Chromosome: 16
Canonical length: 1139 aa
Protein class: Cancer-related genes, Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Nucleoli rim,Mitotic chromosome,Cytosol

OverviewNCBI Gene

Enables promoter-specific chromatin binding activity. Involved in regulation of lipid kinase activity. Acts upstream of or within negative regulation of gene expression. Located in chromosome; cytosol; and nuclear lumen. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

1139 residues, UniProt reviewed canonical sequence.

>Q08999|RBL2
     1  MPSGGDQSPP PPPPPPAAAA SDEEEEDDGE AEDAAPPAES PTPQIQQRFD ELCSRLNMDE
    61  AARAEAWDSY RSMSESYTLE GNDLHWLACA LYVACRKSVP TVSKGTVEGN YVSLTRILKC
   121  SEQSLIEFFN KMKKWEDMAN LPPHFRERTE RLERNFTVSA VIFKKYEPIF QDIFKYPQEE
   181  QPRQQRGRKQ RRQPCTVSEI FHFCWVLFIY AKGNFPMISD DLVNSYHLLL CALDLVYGNA
   241  LQCSNRKELV NPNFKGLSED FHAKDSKPSS DPPCIIEKLC SLHDGLVLEA KGIKEHFWKP
   301  YIRKLYEKKL LKGKEENLTG FLEPGNFGES FKAINKAYEE YVLSVGNLDE RIFLGEDAEE
   361  EIGTLSRCLN AGSGTETAER VQMKNILQQH FDKSKALRIS TPLTGVRYIK ENSPCVTPVS
   421  TATHSLSRLH TMLTGLRNAP SEKLEQILRT CSRDPTQAIA NRLKEMFEIY SQHFQPDEDF
   481  SNCAKEIASK HFRFAEMLYY KVLESVIEQE QKRLGDMDLS GILEQDAFHR SLLACCLEVV
   541  TFSYKPPGNF PFITEIFDVP LYHFYKVIEV FIRAEDGLCR EVVKHLNQIE EQILDHLAWK
   601  PESPLWEKIR DNENRVPTCE EVMPPQNLER ADEICIAGSP LTPRRVTEVR ADTGGLGRSI
   661  TSPTTLYDRY SSPPASTTRR RLFVENDSPS DGGTPGRMPP QPLVNAVPVQ NVSGETVSVT
   721  PVPGQTLVTM ATATVTANNG QTVTIPVQGI ANENGGITFF PVQVNVGGQA QAVTGSIQPL
   781  SAQALAGSLS SQQVTGTTLQ VPGQVAIQQI SPGGQQQKQG QSVTSSSNRP RKTSSLSLFF
   841  RKVYHLAAVR LRDLCAKLDI SDELRKKIWT CFEFSIIQCP ELMMDRHLDQ LLMCAIYVMA
   901  KVTKEDKSFQ NIMRCYRTQP QARSQVYRSV LIKGKRKRRN SGSSDSRSHQ NSPTELNKDR
   961  TSRDSSPVMR SSSTLPVPQP SSAPPTPTRL TGANSDMEEE ERGDLIQFYN NIYIKQIKTF
  1021  AMKYSQANMD APPLSPYPFV RTGSPRRIQL SQNHPVYISP HKNETMLSPR EKIFYYFSNS
  1081  PSKRLREINS MIRTGETPTK KRGILLEDGS ESPAKRICPE NHSALLRRLQ DVANDRGSH

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RBL2 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): 0.4
Highest tissue expression: 62 nTPM

Expression across tissuesHPA

Tissue

thymus: 62 nTPM
parathyroid gland: 59 nTPM
liver: 56 nTPM
tonsil: 48 nTPM
lymph node: 47 nTPM
testis: 46 nTPM

Single-cell type

early spermatids: 540 nCPM
late spermatids: 254 nCPM
neutrophils: 247 nCPM
early primary spermatocytes: 233 nCPM
neutrophil progenitors: 223 nCPM
late primary spermatocytes: 200 nCPM

Immune cell

naive CD4 T-cell: 86 nTPM
total PBMC: 76 nTPM
naive CD8 T-cell: 76 nTPM
NK-cell: 75 nTPM
memory CD8 T-cell: 63 nTPM
MAIT T-cell: 61 nTPM

Brain region

white matter: 35 nTPM
choroid plexus: 32 nTPM
basal ganglia: 29 nTPM
medulla oblongata: 28 nTPM
cerebellum: 27 nTPM
midbrain: 26 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RBL2.

Disease | AllUniProt

Conditions RBL2 is implicated in, by any mechanism.

Brunet-Wagner neurodevelopmental syndrome (BRUWAG) MIM:619690

Disease | GeneticClinVar

11 pathogenic / likely-pathogenic of 216 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Brunet-Wagner neurodevelopmental syndrome

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): 0.27
gnomAD pLI: 1
gnomAD missense Z: 1.23
DepMap mean gene effect: 0.07
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% 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 RBL2 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 RBL2 as an antibody target. Whether an autoantibody or antibody against RBL2 could matter depends on whether native RBL2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

RBL2 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 RBL2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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