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Aliases for GHITM Gene

Aliases for GHITM Gene

  • Growth Hormone Inducible Transmembrane Protein 2 3 5
  • Transmembrane BAX Inhibitor Motif-Containing Protein 5 3 4
  • Mitochondrial Morphology And Cristae Structure 1 3 4
  • Transmembrane BAX Inhibitor Motif Containing 5 2 3
  • Dermal Papilla-Derived Protein 2 3 4
  • TMBIM5 3 4
  • DERP2 3 4
  • MICS1 3 4
  • Growth Hormone-Inducible Transmembrane Protein 3
  • HSPC282 3
  • PTD010 3
  • My021 3

External Ids for GHITM Gene

Previous GeneCards Identifiers for GHITM Gene

  • GC10P084856
  • GC10P085121
  • GC10P086030
  • GC10P085563
  • GC10P085889
  • GC10P079745

Summaries for GHITM Gene

GeneCards Summary for GHITM Gene

GHITM (Growth Hormone Inducible Transmembrane Protein) is a Protein Coding gene.

UniProtKB/Swiss-Prot for GHITM Gene

  • Required for the mitochondrial tubular network and cristae organization. Involved in apoptotic release of cytochrome c.

Gene Wiki entry for GHITM Gene

Additional gene information for GHITM Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GHITM Gene

Genomics for GHITM Gene

GeneHancer (GH) Regulatory Elements for GHITM Gene

Promoters and enhancers for GHITM 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
GH10I084137 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 567 0.0 -28 4.2 FEZF1 DMAP1 YY1 E2F8 ZNF143 SP3 NFYC SSRP1 ZNF610 NBN GHITM ENSG00000271933 RPS3AP5 CDHR1 C10orf99 GC10M084047
GH10I084200 Enhancer 0.9 ENCODE dbSUPER 11.2 +61.9 61903 1.1 CTCF TAL1 EBF1 RAD21 TCF12 CTBP1 VEZF1 SIRT6 CBFA2T2 TRIM24 LRIT2 GHITM PIR57101 CDHR1 GC10P084182
GH10I084205 Enhancer 0.7 ENCODE 11.3 +66.4 66351 0.2 HDGF MEIS2 CTCF ZBTB6 RB1 ZSCAN4 KLF5 RAD21 CTBP1 FOXK2 LRIT1 GHITM PIR57101 CDHR1
GH10I084186 Enhancer 0.7 dbSUPER 11.1 +48.0 48026 2 HDGF HDAC1 ZSCAN4 ZNF266 ZNF175 GLI4 CDC5L ZNF239 SRF SOX6 ENSG00000271933 RPS3AP5 CDHR1 LRIT2 GHITM GC10P084182
GH10I084196 Enhancer 0.6 dbSUPER 11.2 +58.5 58514 3 ZNF449 ZNF10 KLF17 ZNF843 OSR2 ZSCAN23 GATA3 ZNF629 KLF8 ZXDB CDHR1 LRIT2 GHITM PIR57101 GC10P084182
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around GHITM on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GHITM gene promoter:

Genomic Locations for GHITM Gene

Genomic Locations for GHITM Gene
14,127 bases
Plus strand

Genomic View for GHITM Gene

Genes around GHITM on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for GHITM Gene

Proteins for GHITM Gene

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

    Protein Symbol:
    Recommended name:
    Growth hormone-inducible transmembrane protein
    Protein Accession:
    Secondary Accessions:
    • A8K9Z9
    • D3DWE0
    • O95894
    • Q5VT95
    • Q9H0P2

    Protein attributes for GHITM Gene

    345 amino acids
    Molecular mass:
    37205 Da
    Quaternary structure:
    No Data Available

neXtProt entry for GHITM Gene

Post-translational modifications for GHITM Gene

  • Ubiquitination at isoforms=63
  • Modification sites at PhosphoSitePlus

Other Protein References for GHITM Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GHITM Gene

Domains & Families for GHITM Gene

Gene Families for GHITM Gene

Protein Domains for GHITM Gene

Suggested Antigen Peptide Sequences for GHITM Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the BI1 family.
  • Belongs to the BI1 family.
genes like me logo Genes that share domains with GHITM: view

Function for GHITM Gene

Molecular function for GHITM Gene

UniProtKB/Swiss-Prot Function:
Required for the mitochondrial tubular network and cristae organization. Involved in apoptotic release of cytochrome c.

Gene Ontology (GO) - Molecular Function for GHITM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 21903422
genes like me logo Genes that share ontologies with GHITM: view

Phenotypes for GHITM Gene

genes like me logo Genes that share phenotypes with GHITM: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GHITM Gene

Localization for GHITM Gene

Subcellular locations from UniProtKB/Swiss-Prot for GHITM Gene

Mitochondrion inner membrane; Multi-pass membrane protein.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GHITM gene
Compartment Confidence
extracellular 5
mitochondrion 5
plasma membrane 3
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for GHITM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IDA --
GO:0005743 mitochondrial inner membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0070062 extracellular exosome HDA,IDA 19056867
genes like me logo Genes that share ontologies with GHITM: view

Pathways & Interactions for GHITM Gene

SuperPathways for GHITM Gene

No Data Available

Gene Ontology (GO) - Biological Process for GHITM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process IEA --
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with GHITM: view

No data available for Pathways by source and SIGNOR curated interactions for GHITM Gene

Drugs & Compounds for GHITM Gene

No Compound Related Data Available

Transcripts for GHITM Gene

mRNA/cDNA for GHITM Gene

(1) REFSEQ mRNAs :
(19) Additional mRNA sequences :
(1304) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for GHITM Gene

Growth hormone inducible transmembrane protein:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GHITM Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b · 7c · 7d · 7e ^ 8 ^ 9a · 9b ^ 10 ^ 11
SP1: - - - - - -
SP2: - - - - - - - - -
SP3: - - - - - - -
SP4: - - - - -
SP5: - - - -
SP6: - - - - -
SP7: - - - - - - - -
SP8: -
SP9: - - -

Relevant External Links for GHITM Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for GHITM Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GHITM Gene

Protein differential expression in normal tissues from HIPED for GHITM Gene

This gene is overexpressed in Nasal epithelium (58.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for GHITM Gene

Protein tissue co-expression partners for GHITM Gene

NURSA nuclear receptor signaling pathways regulating expression of GHITM Gene:


SOURCE GeneReport for Unigene cluster for GHITM Gene:


Evidence on tissue expression from TISSUES for GHITM Gene

  • Nervous system(5)
  • Kidney(4.9)
  • Skin(4.7)
  • Intestine(4.5)
  • Lung(4.4)
  • Blood(4.3)
  • Liver(4.3)
  • Heart(4.2)
  • Muscle(3.7)
  • Eye(3.4)
  • Spleen(2.6)
  • Lymph node(2.4)
  • Stomach(2.4)
  • Pancreas(2.2)
  • Adrenal gland(2.1)
genes like me logo Genes that share expression patterns with GHITM: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GHITM Gene

Orthologs for GHITM Gene

This gene was present in the common ancestor of animals.

Orthologs for GHITM Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia GHITM 33 34
  • 99.52 (n)
(Canis familiaris)
Mammalia GHITM 34 33
  • 90.92 (n)
(Mus musculus)
Mammalia Ghitm 33 16 34
  • 90.53 (n)
(Bos Taurus)
Mammalia GHITM 34 33
  • 90.24 (n)
(Rattus norvegicus)
Mammalia Ghitm 33
  • 88.79 (n)
(Ornithorhynchus anatinus)
Mammalia GHITM 34
  • 81 (a)
(Monodelphis domestica)
Mammalia GHITM 34
  • 71 (a)
(Gallus gallus)
Aves GHITM 33 34
  • 71.01 (n)
(Anolis carolinensis)
Reptilia GHITM 34
  • 74 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ghitm 33
  • 70.63 (n)
Str.6400 33
African clawed frog
(Xenopus laevis)
Amphibia ghitm-prov 33
(Danio rerio)
Actinopterygii ghitm 34 33
  • 59.96 (n)
zgc66108 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10257 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009883 33
  • 55.63 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG2076 35 33 34
  • 53.64 (n)
CG1287 34 35
  • 45 (a)
(Caenorhabditis elegans)
Secernentea K11H12.8 33 34
  • 56.69 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 69 (a)
Species where no ortholog for GHITM was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GHITM Gene

Gene Tree for GHITM (if available)
Gene Tree for GHITM (if available)

Paralogs for GHITM Gene

(1) SIMAP similar genes for GHITM Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with GHITM: view

No data available for Paralogs for GHITM Gene

Variants for GHITM Gene

Sequence variations from dbSNP and Humsavar for GHITM Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs1000443131 -- 84,141,368(+) C/A intron_variant
rs1000807637 -- 84,146,054(+) T/G intron_variant
rs1000847368 -- 84,139,985(+) G/C intron_variant
rs1000942747 -- 84,146,269(+) A/G intron_variant
rs1000950780 -- 84,146,112(+) G/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for GHITM Gene

Variant ID Type Subtype PubMed ID
nsv1046749 CNV gain 25217958
nsv1141879 OTHER inversion 24896259
nsv551745 CNV gain 21841781

Variation tolerance for GHITM Gene

Residual Variation Intolerance Score: 31.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.88; 48.42% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GHITM Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GHITM Gene

Disorders for GHITM Gene

Additional Disease Information for GHITM

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

No disorders were found for GHITM Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for GHITM Gene

Publications for GHITM Gene

  1. MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage head and neck cancer. (PMID: 20819778) Zhang X … Wu X (Carcinogenesis 2010) 3 44 58
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  3. Identification of a novel protein MICS1 that is involved in maintenance of mitochondrial morphology and apoptotic release of cytochrome c. (PMID: 18417609) Oka T … Mihara K (Molecular biology of the cell 2008) 3 4 58
  4. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A … Goate A (American journal of human genetics 2006) 3 44 58
  5. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P … Rogers J (Nature 2004) 3 4 58

Products for GHITM Gene

Sources for GHITM Gene

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