HEATR5B
HEAT repeat-containing protein 5B
Also known as: DKFZp686P15184, HTR5B_HUMAN, KIAA1414, p200, p200a
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9P2D3
- Gene
- HEATR5B
- Ensembl
- ENSG00000008869
- Chromosome
- 2
- Canonical length
- 2071 aa
- Protein class
- Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Golgi apparatus,Vesicles,Cytosol
OverviewNCBI Gene
Predicted to be involved in endocytosis; protein localization; and retrograde transport, endosome to Golgi. Located in Golgi apparatus; cytosol; and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]
Canonical amino-acid sequenceUniProt
2071 residues, UniProt reviewed canonical sequence.
>Q9P2D3|HEATR5B
1 MELAHSLLLN EEALAQITEA KRPVFIFEWL RFLDKVLVAA NKTDVKEKQK KLVEQLTGLI
61 SSSPGPPTRK LLAKNLAALY SIGDTFTVFQ TLDKCNDIIR NKDDTAAYLP TKLAAVACVG
121 AFYEKMGRML GSAFPETVNN LLKSLKSAES QGRSEILMSL QKVLSGLGGA AASSHRDIYK
181 NARSLLTDRS MAVRCAVAKC LLELQNEAVF MWTAELENIA TLCFKALENS NYGVRVAVSK
241 LLGTVMATAL MPKQATVMRQ NVKRATFDEV LELMATGFLR GGSGFLKSGG EMLKVGGSVN
301 REVRVGVTQA YVVFVTTLGG QWLERSFATF LSHVLDLVSH PRATQTHVEA VYSRRCVSFI
361 LRATVGSLLG EKAQIAAAKE ICQAIGKQMK AVEAVVNDTS GENKSGAADI AASQHVMVCA
421 LQELGSLVQS LNATASPLIQ EASIGLLEIV TSVLLHPSMA ARLAAAWCLR CVAVALPFQL
481 TPFLDRCAER LNNLKTSPEA VSGYSFAMAA LLGGVHQCPL GIPHAKGKMV VSIAEDLLRT
541 AAQNSRLSLQ RTQAGWLLLG ALMTLGPSVV RYHLPKMLLL WRNVFPRSLK ELEAEKARGD
601 SFTWQVTLEG RAGALCAMRS FVAHCPELLT EDVIRKLMTP IECAMTMMSH IPSVMKAHGA
661 HLKASAAMVR LRLYDILALL PPKTYEGSFN ALLRELVAEF TLTDNSANTT TSLLRSLCHY
721 DDSVLLGSWL QETDHKSIED QLQPNSASGS GALEHDPSSI YLRIPAGEAV PGPLPLGVSV
781 IDASVALFGV VFPHVSYKHR LQMLDHFAEC VKQAKGVRQQ AVQLNIFTAV LSALKGLAEN
841 KSTLGPEEVR KSALTLVMGP LDNPNPILRC AAGEALGRMA QVVGEATFIA RMAQYSFDKL
901 KSARDVVSRT GHSLALGCLH RYVGGIGSGQ HLKTSVSILL ALAQDGTSPE VQTWSLHSLA
961 LIVDSSGPMY RGYVEPTLSL VLTLLLTVPP SHTEVHQCLG RCLGAIITTV GPELQGNGAT
1021 TSTIRSSCLV GCAITQDHSD SLVQAAAISC LQQLHMFAPR HVNLSSLVPS LCVHLCSSHL
1081 LLRRAAVACL RQLAQREAAE VCEYAMSLAK NTGDKESSSA NVSPFAPGVS SRTDIHCRHQ
1141 GVNITETGLE GLLFGMLDRE TDRKLCSDIH DTLGHMLSSL AVEKLSHWLM LCKDVLAASS
1201 DMSTATLLSS GKDEEAEKKD EMDDDTMFTT LGEEDKSKPF VAPRWATRVF AADCLCRIIN
1261 LCENADQAHF DLALARSAKL RNPTNDLLVL HLSDLIRMAF MAATDHSNQL RMAGLQALED
1321 IIKKFASVPE PEFPGHVILE QYQANVGAAL RPAFSQDTPS DIIAKACQVC STWIGSGVVS
1381 DLNDLRRVHN LLVSSLDKVQ AGKGSSSQLY RESATTMEKL AVLKAWAEVY VVAMNIKKEA
1441 ESKPKRAIKN TDDDDDDCGT IDELPPDSLI TLVQPELPTL SRLWLAALKD YALLTLPAEF
1501 SSQLPPDGGA FYTPETIDTA RLHYRNSWAP ILHAVALWLN STGFTCSEST EAAAISGLQK
1561 RSTSVNLNQA SGAVGSAKSL PEINKDRMHL ILGVSIQFLC SPRPEEPIEH VTACLQALHT
1621 LLDSPYARVH IAEDQLIGVE LLSVLHRLLL TWNPSSVQLL VTGVVQQIVR AAQDYLQEKR
1681 NTLNEDDMEK EACTVLGEGG DSGGLIPGKS LVFATMELLM FILVRHMPHL STKVSDSPSH
1741 IATKTRLSEE SARLVAATVT ILSDLPSLCS PAGCMTILPT ILFLIARILK DTAIKSADNQ
1801 VPPPVSAALQ GIKSIVTLSM AKTEAGVQKQ WTALIRSTLA CILEYSQPED SVPTPDEVSM
1861 LTAIALFLWS ASNEIIGVQS LQNGCMNRFK NALNSCDPWV QAKCYQLLLS VFQHSNRALS
1921 TPYIHSLAPI VVEKLKAVER NRPASNIELL AVQEGIKVLE TLVALGEEQN RVQLLALLVP
1981 TLISYLLDEN SFASASSASK DLHEFALQNL MHIGPLYPHA FKTVMGAAPE LKVRLETAVR
2041 ASQASKAKAA ARQPAPAIHS APTIKLKTSF FLocalizationUniProt · AlphaFold · HPA
Whether an antibody against HEATR5B 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)
- 0.25
- Highest tissue expression
- 29 nTPM
Expression across tissuesHPA
Tissue
- lymph node: 29 nTPM
- tonsil: 28 nTPM
- thymus: 22 nTPM
- bone marrow: 20 nTPM
- retina: 19 nTPM
- spleen: 17 nTPM
Single-cell type
- neutrophil progenitors: 227 nCPM
- microglia: 214 nCPM
- cdc: 148 nCPM
- adrenal cortex cells: 144 nCPM
- megakaryocyte-erythroid progenitors: 143 nCPM
- thyrotrophs: 124 nCPM
Immune cell
- basophil: 18 nTPM
- naive B-cell: 14 nTPM
- eosinophil: 12 nTPM
- plasmacytoid DC: 11 nTPM
- T-reg: 9.6 nTPM
- memory B-cell: 9.5 nTPM
Brain region
- cerebellum: 43 nTPM
- white matter: 41 nTPM
- cerebral cortex: 40 nTPM
- pons: 40 nTPM
- thalamus: 38 nTPM
- midbrain: 38 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about HEATR5B.
Disease | GeneticClinVar
3 pathogenic / likely-pathogenic of 295 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- HEATR5B-associated Pontocerebellar hypoplasia
- Congenital pontocerebellar hypoplasia
- Neurological syndrome with pontocerebellar hypoplasia
Disease | AutoantibodyPubMed
Conditions in which antibodies against HEATR5B are reported. Each links to that disease's full target list.
ReferencesPubMed · IEDB
Publications for HEATR5B from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.
Reference: AutoantibodyPubMed
17 publications
- Anti-laminin gamma-1 pemphigoid.
2009 · Proc Natl Acad Sci U S A · RCR 4.6 · 139 citations - Autoimmune Congenital Heart Block: A Review of Biomarkers and Management of Pregnancy.
2020 · Front Pediatr · RCR 2 · 31 citations - Cardiac antigen-specific autoantibody production is associated with cardiomyopathy in Trypanosoma cruzi-infected mice.
1994 · J Immunol · RCR 1.7 · 57 citations - Potential contribution of anti-p200 autoantibodies to mucosal lesions in anti-p200 pemphigoid.
2023 · Front Immunol · RCR 1.1 · 4 citations - Anti-Ro52 monoclonal antibodies specific for amino acid 200-239, but not other Ro52 epitopes, induce congenital heart block in a rat model.
2012 · Ann Rheum Dis · RCR 1 · 36 citations
Show 12 more
- Refractory bullous pemphigoid with IgE anti-BP230 and IgG anti-p200 antibodies successfully treated with omalizumab.
2021 · Ann Dermatol Venereol · RCR 1 · 10 citations - Umbilical cord blood levels of maternal antibodies reactive with p200 and full-length Ro 52 in the assessment of risk for cardiac manifestations of neonatal lupus.
2012 · Arthritis Care Res (Hoboken) · RCR 1 · 32 citations - Relapse-associated autoantibodies to BP180 in a patient with anti-p200 pemphigoid.
2010 · Clin Exp Dermatol · RCR 0.8 · 18 citations - Maternal autoantibody profiles at risk for autoimmune congenital heart block: a prospective study in high-risk patients.
2016 · Lupus Sci Med · RCR 0.7 · 15 citations - Cloning and characterization of two human Ro52-specific monoclonal autoantibodies directed towards a domain associated with congenital heart block.
2004 · J Autoimmun · RCR 0.5 · 20 citations - Anti-Ro/SSA-p200 antibodies in the prediction of congenital heart block. An Italian multicentre cross-sectional study on behalf of the 'Forum Interdisciplinare per la Ricerca nelle Malattie Autoimmuni (FIRMA) Group'.
2014 · Clin Exp Rheumatol · RCR 0.5 · 11 citations - Structurally derived mutations define congenital heart block-related epitopes within the 200-239 amino acid stretch of the Ro52 protein.
2005 · Scand J Immunol · RCR 0.4 · 17 citations - The high incidence of anti-Ro/SSA and anti-p200 antibodies in female patients with connective tissue diseases confirms the importance of screening for congenital heart block-associated autoantibodies during pregnancy.
2016 · Arch Dermatol Res · RCR 0.3 · 6 citations - Antibody reactivity to alpha-enolase in mothers of children with congenital heart block.
2009 · J Rheumatol · RCR 0.3 · 9 citations - Detection of autoantibodies to the p200-epitope of SSA/Ro52 antigen. A comparison of two laboratory assays.
2018 · Clin Chem Lab Med · RCR 0.1 · 2 citations - Pemphigoid with Autoantibodies against p200 and all Subunits of Laminin 332 Associated with Drug Eruption Caused by Piperacillin/tazobactam.
2025 · Acta Derm Venereol · 1 citations - Incidence of P200 pemphigoid: A nationwide study.
2026 · J Eur Acad Dermatol Venereol
Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.
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)
- 0.63
- gnomAD pLI
- 0
- gnomAD missense Z
- 2.14
- DepMap mean gene effect
- -0.27
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- endocytosis
- intracellular protein localization
- protein transport
- retrograde transport, endosome to Golgi
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of HEATR5B 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 HEATR5B as an antibody target. Whether an autoantibody or antibody against HEATR5B could matter depends on whether native HEATR5B is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
HEATR5B 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 HEATR5B as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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