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Aliases for HLA-H Gene

Aliases for HLA-H Gene

  • Major Histocompatibility Complex, Class I, H (Pseudogene) 2 3 5
  • MHC Class I Antigen H 4
  • HLA-12.4 4
  • HLA-AR 4
  • HLAHP 3
  • HLAH 4

External Ids for HLA-H Gene

Previous GeneCards Identifiers for HLA-H Gene

  • GC06P029926
  • GC06M029910
  • GC06P029962
  • GC06P029963
  • GC06P029912
  • GC06Pf29990
  • GC06P029858
  • GC06P029655
  • GC06P030063
  • GC06P030178
  • GC06P030087
  • GC06P030099

Summaries for HLA-H Gene

Entrez Gene Summary for HLA-H Gene

  • This major histocompatibility complex gene represents a transcribed pseudogene, possibly derived from HLA-A. This gene displays extensive variation. [provided by RefSeq, May 2010]

GeneCards Summary for HLA-H Gene

HLA-H (Major Histocompatibility Complex, Class I, H (Pseudogene)) is a Pseudogene. Diseases associated with HLA-H include Microvascular Complications Of Diabetes 7 and Porphyria Cutanea Tarda. Among its related pathways are Antigen Presentation- Folding, assembly and peptide loading of class I MHC and Antigen processing- Ubiquitination and Proteasome degradation. GO annotations related to this gene include peptide antigen binding and beta-2-microglobulin binding.

UniProtKB/Swiss-Prot for HLA-H Gene

  • Involved in the presentation of foreign antigens to the immune system.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HLA-H Gene

Genomics for HLA-H Gene

Regulatory Elements for HLA-H Gene

Enhancers for HLA-H Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around HLA-H on UCSC Golden Path with GeneCards custom track

Promoters for HLA-H Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around HLA-H on UCSC Golden Path with GeneCards custom track

Genomic Location for HLA-H Gene

29,887,752 bp from pter
29,891,080 bp from pter
3,329 bases
Plus strand

Genomic View for HLA-H Gene

Genes around HLA-H on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HLA-H Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HLA-H Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

Proteins for HLA-H Gene

  • Protein details for HLA-H Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Putative HLA class I histocompatibility antigen, alpha chain H
    Protein Accession:

    Protein attributes for HLA-H Gene

    362 amino acids
    Molecular mass:
    40892 Da
    Quaternary structure:
    • Heterodimer of an alpha chain and a beta chain (beta-2-microglobulin).
    • Sequence=AAA36218.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

neXtProt entry for HLA-H Gene

Proteomics data for HLA-H Gene at MOPED

Post-translational modifications for HLA-H Gene

No data available for DME Specific Peptides for HLA-H Gene

Domains & Families for HLA-H Gene

Gene Families for HLA-H Gene

Suggested Antigen Peptide Sequences for HLA-H Gene

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 Ig-like C1-type (immunoglobulin-like) domain.
  • Belongs to the MHC class I family.
  • Contains 1 Ig-like C1-type (immunoglobulin-like) domain.
  • Belongs to the MHC class I family.
genes like me logo Genes that share domains with HLA-H: view

Function for HLA-H Gene

Molecular function for HLA-H Gene

GENATLAS Biochemistry:
HLA class I-like gene H,5.4 Hind III fragment,see HFEC@,MHC1
UniProtKB/Swiss-Prot Function:
Involved in the presentation of foreign antigens to the immune system.

Phenotypes for HLA-H Gene

genes like me logo Genes that share phenotypes with HLA-H: view

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for HLA-H Gene

Localization for HLA-H Gene

Subcellular locations from UniProtKB/Swiss-Prot for HLA-H Gene

Cell membrane; Single-pass membrane protein.

Gene Ontology (GO) - Cellular Components for HLA-H Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030670 phagocytic vesicle membrane TAS --
genes like me logo Genes that share ontologies with HLA-H: view

No data available for Subcellular locations from COMPARTMENTS for HLA-H Gene

Pathways & Interactions for HLA-H Gene

genes like me logo Genes that share pathways with HLA-H: view

Interacting Proteins for HLA-H Gene

Selected Interacting proteins: P01893-HLAH_HUMAN for HLA-H Gene via I2D

Symbol External ID(s) Details

Gene Ontology (GO) - Biological Process for HLA-H Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002474 antigen processing and presentation of peptide antigen via MHC class I TAS --
genes like me logo Genes that share ontologies with HLA-H: view

No data available for SIGNOR curated interactions for HLA-H Gene

Drugs & Compounds for HLA-H Gene

No Compound Related Data Available

Transcripts for HLA-H Gene

mRNA/cDNA for HLA-H Gene

Unigene Clusters for HLA-H Gene

Major histocompatibility complex, class I, H (pseudogene):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for HLA-H Gene

No ASD Table

Relevant External Links for HLA-H Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for HLA-H Gene

mRNA expression in normal human tissues for HLA-H Gene

mRNA differential expression in normal tissues according to GTEx for HLA-H Gene

This gene is overexpressed in Whole Blood (x7.1).

Protein differential expression in normal tissues from HIPED for HLA-H Gene

This gene is overexpressed in Lavage (30.1), Blymphocyte (20.0), and Urine (13.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for HLA-H Gene

SOURCE GeneReport for Unigene cluster for HLA-H Gene Hs.728808

genes like me logo Genes that share expression patterns with HLA-H: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for HLA-H Gene

Orthologs for HLA-H Gene

Evolution for HLA-H Gene

Gene Tree for HLA-H (if available)
Gene Tree for HLA-H (if available)

No data available for Orthologs for HLA-H Gene

Paralogs for HLA-H Gene

genes like me logo Genes that share paralogs with HLA-H: view

No data available for Paralogs for HLA-H Gene

Variants for HLA-H Gene

Sequence variations from dbSNP and Humsavar for HLA-H Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs1059568 -- 29,889,375(+) CATGA(A/G)GCCAC nc-transcript-variant
rs1611622 -- 29,889,355(+) CCCAC(C/T)ACCCC nc-transcript-variant
rs1611624 -- 29,889,647(+) AAGCC(A/C/G)GAGCC intron-variant
rs1611625 -- 29,889,745(+) GCATC(A/G/T)TTGCT nc-transcript-variant
rs1611626 -- 29,889,793(+) TGGTC(A/G/T)CTGCT nc-transcript-variant

Structural Variations from Database of Genomic Variants (DGV) for HLA-H Gene

Variant ID Type Subtype PubMed ID
esv25966 CNV Gain+Loss 19812545
nsv428139 CNV Gain 18775914
dgv1039e201 CNV Deletion 23290073
esv2731772 CNV Deletion 23290073
dgv1086e199 CNV Deletion 23128226
esv2731775 CNV Deletion 23290073
esv2670487 CNV Deletion 23128226
dgv1909e1 CNV Complex 17122850
dgv1910e1 CNV Complex 17122850
esv2665698 CNV Deletion 23128226
nsv820564 CNV Deletion 20802225
nsv823469 CNV Loss 20364138
esv3351 CNV Complex 18987735
nsv508398 CNV Loss 20534489
esv32544 CNV Gain+Loss 17666407
dgv6448n71 CNV Gain 21882294
esv9076 CNV Loss 19470904
dgv739n27 CNV Gain 19166990
nsv526095 CNV Gain 19592680
dgv1911e1 CNV Complex 17122850
dgv1912e1 CNV Complex 17122850
dgv211e55 CNV Loss 17911159
nsv442976 CNV CNV 18776908
nsv10810 CNV Gain+Loss 18304495
nsv5240 CNV Loss 18451855
dgv6449n71 CNV Gain 21882294
nsv883550 CNV Gain+Loss 21882294
dgv6450n71 CNV Gain 21882294
dgv6451n71 CNV Gain 21882294
nsv883559 CNV Gain 21882294
dgv1087e199 CNV Deletion 23128226
dgv6452n71 CNV Loss 21882294
esv2589773 CNV Loss 19546169
dgv6453n71 CNV Gain 21882294
dgv6454n71 CNV Gain 21882294
dgv6455n71 CNV Gain+Loss 21882294
nsv883572 CNV Gain 21882294
dgv6456n71 CNV Loss 21882294
dgv6457n71 CNV Gain+Loss 21882294
dgv6458n71 CNV Gain 21882294
dgv6459n71 CNV Gain 21882294
nsv883593 CNV Loss 21882294
nsv511316 CNV Gain 21212237
nsv499693 CNV Loss 21111241
esv2422126 CNV Deletion 20811451
dgv7e195 CNV Deletion 20811451
esv3124 CNV Deletion 18987735
nsv883605 CNV Loss 21882294
dgv6460n71 CNV Gain 21882294
dgv6461n71 CNV Loss 21882294
dgv6462n71 CNV Gain 21882294
nsv433378 CNV Gain 18776910
nsv823470 CNV Loss 20364138
dgv6463n71 CNV Gain+Loss 21882294
dgv6464n71 CNV Loss 21882294
dgv6465n71 CNV Gain 21882294
dgv6466n71 CNV Loss 21882294
dgv6467n71 CNV Gain+Loss 21882294
dgv6468n71 CNV Loss 21882294
dgv6469n71 CNV Loss 21882294
dgv6470n71 CNV Loss 21882294
dgv6471n71 CNV Loss 21882294
dgv6472n71 CNV Gain 21882294
dgv6473n71 CNV Gain+Loss 21882294
dgv6474n71 CNV Gain+Loss 21882294
esv6014 CNV Loss 19470904
dgv1040e201 CNV Deletion 23290073

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Variation tolerance and Relevant External Links for HLA-H Gene

Disorders for HLA-H Gene

MalaCards: The human disease database

(5) MalaCards diseases for HLA-H Gene - From: OMIM and GeneCards

Disorder Aliases PubMed IDs
microvascular complications of diabetes 7
  • diabetic nephropathy
porphyria cutanea tarda
  • porphyria, hepatoerythropoietic
porphyria variegata
  • variegate porphyria
  • hfe hemochromatosis, modifier of
alzheimer disease
  • alzheimer disease, late-onset
- elite association - COSMIC cancer census association via MalaCards
Search HLA-H in MalaCards View complete list of genes associated with diseases

Relevant External Links for HLA-H

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with HLA-H: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HLA-H Gene

Publications for HLA-H Gene

  1. Transcription analysis, physical mapping, and molecular characterization of a nonclassical human leukocyte antigen class I gene. (PMID: 2294403) Chorney M.J. … Weissman S.M. (Mol. Cell. Biol. 1990) 2 3 23 67
  2. HLA-H: a pseudogene with increased variation due to balancing selection at neighboring loci. (PMID: 9866194) Grimsley C. … Ober C. (Mol. Biol. Evol. 1998) 3 23
  3. Examination of four HLA class I pseudogenes. Common events in the evolution of HLA genes and pseudogenes. (PMID: 1517564) Geraghty D.E. … Hansen J.A. (J. Immunol. 1992) 2 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci. (PMID: 22412388) Kenny E.E. … Peter I. (PLoS Genet. 2012) 3

Products for HLA-H Gene

Sources for HLA-H Gene