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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
  • GC06P030340
  • GC06P030485
  • GC06P030686
  • GC06P030850
  • GC06P031013

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. Among its related pathways are Cytokine Signaling in Immune system and Innate Immune System. Gene Ontology (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.

Additional gene information for HLA-H Gene

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

Genomics for HLA-H Gene

GeneHancer (GH) Regulatory Elements for HLA-H Gene

Promoters and enhancers for HLA-H Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06I029886 Promoter/Enhancer 1.2 Ensembl ENCODE 576.1 0.0 -17 3 IRF2 BACH1 YY1 RFX5 POLR2A ZSCAN29 IKZF2 RUNX3 EZH2 ZNF687 HLA-H HCG4P7 ERVK9-12 HLA-J HLA-A ZFP57 HCG4P5 MICD HLA-K ZNRD1
GH06I029940 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 56.2 +54.5 54509 3.7 HDGF PKNOX1 SMAD1 ARID4B DMAP1 ZNF2 YY1 GLIS2 ZNF143 ATF7 HLA-A HCG4P5 PIR61557 HLA-J HLA-T HLA-G HLA-H HLA-W HLA-K HCG4P3
GH06I030715 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 41.8 +831.8 831774 7.7 CLOCK MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 MDC1 TUBB DDX39B TRIM39 DHX16 LY6G5B PPP1R10 ZNRD1 PAIP1P1 NRM
GH06I030611 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 27 +727.8 727800 8.7 CLOCK MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 PPP1R10 MRPS18B DDX39B MDC1 TRIM39 ABCF1 NRM DHX16 ZNRD1 TRIM26
GH06I030210 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 25.8 +325.1 325137 4.1 PKNOX1 MLX ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 ZNF213 ZNF143 TRIM26 PIR43263 HLA-U DHX16 HLA-W MICD TRIM39 ZNRD1 PPP1R10 PAIP1P1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

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

Top Transcription factor binding sites by QIAGEN in the HLA-H gene promoter:

Genomic Locations for HLA-H Gene

Genomic Locations for HLA-H Gene
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

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



  • Belongs to the MHC class I family.
  • 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 From GWAS Catalog for HLA-H Gene

Gene Ontology (GO) - Molecular Function for HLA-H Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 receptor binding IBA --
GO:0030881 beta-2-microglobulin binding IMP 9162021
GO:0042605 peptide antigen binding IBA --
genes like me logo Genes that share ontologies with HLA-H: view

Phenotypes for HLA-H Gene

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

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , 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:0000139 Golgi membrane TAS --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane NAS 6461010
GO:0009986 cell surface IMP 9162021
GO:0012507 ER to Golgi transport vesicle membrane TAS --
genes like me logo Genes that share ontologies with HLA-H: view

No data available for Subcellular locations from COMPARTMENTS and Subcellular locations from the Human Protein Atlas (HPA) for HLA-H Gene

Pathways & Interactions for HLA-H Gene

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

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 --
GO:0002479 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent TAS --
GO:0002480 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent TAS --
GO:0006955 immune response NAS 6461010
GO:0043312 neutrophil degranulation 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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:

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 , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 Variation AA Info Type
rs1003201635 -- 29,886,276(+) G/A upstream_transcript_variant
rs1004239479 -- 29,889,203(+) T/C intron_variant
rs1007799530 -- 29,886,621(+) G/A upstream_transcript_variant
rs1016952498 -- 29,890,649(+) A/G intron_variant
rs1017437530 -- 29,887,784(+) G/C non_coding_transcript_variant

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

Variant ID Type Subtype PubMed ID
nsv965703 CNV duplication 23825009
nsv823470 CNV loss 20364138
nsv823469 CNV loss 20364138
nsv820564 CNV deletion 20802225
nsv601272 CNV loss 21841781
nsv601265 CNV loss 21841781
nsv601264 CNV loss 21841781
nsv601241 CNV gain 21841781
nsv526095 CNV gain 19592680
nsv5240 CNV deletion 18451855
nsv511316 CNV gain 21212237
nsv508398 CNV deletion 20534489
nsv499693 CNV loss 21111241
nsv442976 CNV loss 18776908
nsv437962 CNV loss 16468122
nsv433378 CNV gain 18776910
nsv428139 CNV gain 18775914
nsv1161354 CNV deletion 26073780
nsv1144137 CNV deletion 24896259
nsv1122126 CNV deletion 24896259
nsv10810 CNV gain+loss 18304495
nsv1074389 CNV deletion 25765185
nsv1029669 CNV loss 25217958
esv9076 CNV loss 19470904
esv6014 CNV loss 19470904
esv3890807 CNV loss 25118596
esv3890806 CNV loss 25118596
esv3608493 CNV loss 21293372
esv3570849 CNV loss 25503493
esv3567496 CNV deletion 23714750
esv3369212 CNV duplication 20981092
esv3351 OTHER complex 18987735
esv3332677 CNV duplication 20981092
esv32544 CNV gain+loss 17666407
esv3124 CNV loss 18987735
esv2763941 CNV gain+loss 21179565
esv2761013 CNV loss 21179565
esv2759412 CNV gain+loss 17122850
esv2731775 CNV deletion 23290073
esv2731772 CNV deletion 23290073
esv2670487 CNV deletion 23128226
esv2665698 CNV deletion 23128226
esv25966 CNV gain+loss 19812545
esv2589773 CNV loss 19546169
esv2422126 CNV deletion 20811451
dgv993e201 CNV deletion 23290073
dgv992e201 CNV deletion 23290073
dgv7e195 CNV deletion 20811451
dgv739n27 CNV gain 19166990
dgv5938n100 CNV gain 25217958
dgv3468e59 CNV duplication 20981092
dgv3467e59 CNV duplication 20981092
dgv220n111 CNV duplication 26073780
dgv211e55 CNV loss 17911159
dgv1731e212 CNV loss 25503493
dgv1730e212 CNV gain 25503493
dgv1729e212 CNV gain 25503493
dgv1728e212 CNV gain 25503493
dgv1727e212 CNV gain 25503493
dgv1726e212 CNV loss 25503493
dgv114n17 CNV loss 16327808
dgv1087e199 CNV deletion 23128226
dgv1086e199 CNV deletion 23128226
dgv10351n54 CNV loss 21841781
dgv10350n54 CNV loss 21841781
dgv10349n54 CNV loss 21841781
dgv10348n54 CNV loss 21841781
dgv10347n54 CNV loss 21841781
dgv10346n54 CNV loss 21841781
dgv10345n54 CNV loss 21841781
dgv10344n54 CNV loss 21841781
dgv10342n54 CNV loss 21841781

Additional Variant Information for HLA-H Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for HLA-H Gene

Additional Disease Information for HLA-H

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for HLA-H Gene.

No data available for MalaCards , 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 MJ … Weissman SM (Molecular and cellular biology 1990) 2 3 22 58
  2. [Role of polymorphic adhesion molecules in the development of graft-versus-leukemia effect after HLA-matched allogeneic stem cell transplantation]. (PMID: 15359910) Shiobara S … Nakao S ([Rinsho ketsueki] The Japanese journal of clinical hematology 2004) 3 44 58
  3. Minor histocompatibility antigen HA-1 and HPA-5 polymorphisms in HLA-identical related bone marrow transplantation. (PMID: 15350465) Kotzampasaki EM … Stavropoulos-Giokas C (Transplantation proceedings 2004) 3 44 58
  4. HLA-H: a pseudogene with increased variation due to balancing selection at neighboring loci. (PMID: 9866194) Grimsley C … Ober C (Molecular biology and evolution 1998) 3 22 58
  5. Examination of four HLA class I pseudogenes. Common events in the evolution of HLA genes and pseudogenes. (PMID: 1517564) Geraghty DE … Hansen JA (Journal of immunology (Baltimore, Md. : 1950) 1992) 2 3 58

Products for HLA-H Gene

Sources for HLA-H Gene

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