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
  • Growth Hormone-Inducible Transmembrane Protein 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
  • 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. Diseases associated with GHITM include Inflammatory Bowel Disease 20 and Nasal Cavity Disease. An important paralog of this gene is TMBIM6.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification 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
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J084137 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 516.9 +0.0 17 4.3 EP300 FOXK2 HNRNPK ZBTB40 ZNF217 CTCF SIN3A NRF1 TCF12 POLR2G GHITM ENSG00000271933 RPS3AP5 CDHR1 C10orf99
GH10J084156 Enhancer 1.1 Ensembl ENCODE dbSUPER 10.7 +19.6 19572 8 NRF1 POLR2G USF1 TEAD4 ZIC2 TARDBP DNMT1 CTBP1 RBM25 CTCF piR-57137-005 CDHR1 LRIT2 GHITM LRIT1 RNU1-65P C10orf99 ENSG00000271933 CCSER2
GH10J084200 Enhancer 1 Ensembl ENCODE dbSUPER 11.2 +61.9 61903 1.1 CTCF MYC RAD21 CTBP1 SMC3 MEF2B TAL1 EZH2 NR2F1 EBF1 LRIT2 GHITM CDHR1
GH10J084205 Enhancer 0.7 ENCODE 11.3 +66.4 66351 0.2 CTCF REST RCOR1 RAD21 CTBP1 TRIM22 SMC3 YY1 PBX2 NBN LRIT1 GHITM CDHR1 LRIT2
GH10J084186 Enhancer 0.7 dbSUPER 11.1 +48.0 48026 2 REST MIER1 ZNF266 SRF ZNF707 NONO NBN EHMT2 ZNF621 GLI4 CDHR1 ENSG00000271933 LRIT2 GHITM RPS3AP5 piR-43583-050
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GHITM on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GHITM

Top Transcription factor binding sites by QIAGEN in the GHITM gene promoter:
  • ATF-2
  • Brachyury
  • CREB
  • CUTL1
  • deltaCREB
  • HNF-3beta
  • NF-AT
  • NF-AT1
  • NF-AT2
  • NF-AT3

Genomic Locations for GHITM Gene

Genomic Locations for GHITM Gene
chr10:84,139,429-84,153,568
(GRCh38/hg38)
Size:
14,140 bases
Orientation:
Plus strand
chr10:85,899,185-85,913,311
(GRCh37/hg19)
Size:
14,127 bases
Orientation:
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:
    Q9H3K2-GHITM_HUMAN
    Recommended name:
    Growth hormone-inducible transmembrane protein
    Protein Accession:
    Q9H3K2
    Secondary Accessions:
    • A8K9Z9
    • D3DWE0
    • O95894
    • Q5VT95
    • Q9H0P2

    Protein attributes for GHITM Gene

    Size:
    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 Lys63
  • 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

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GHITM Gene

GenScript: Design optimal peptide antigens:
  • Transmembrane BAX inhibitor motif-containing protein 5 (GHITM_HUMAN)
  • GHITM protein (Q6FIA7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H3K2

UniProtKB/Swiss-Prot:

GHITM_HUMAN :
  • Belongs to the BI1 family.
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.

Phenotypes From GWAS Catalog for GHITM Gene

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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GHITM

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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

COMPARTMENTS
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
mitochondrion 5
plasma membrane 3
extracellular 2
cytoskeleton 1
nucleus 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1
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 IDA,IEA --
GO:0005743 mitochondrial inner membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with GHITM: view

Pathways & Interactions for GHITM Gene

PathCards logo

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 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GHITM

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
GHITM

Expression for GHITM Gene

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



Protein tissue co-expression partners for GHITM Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GHITM

SOURCE GeneReport for Unigene cluster for GHITM Gene:

Hs.352656

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
chimpanzee
(Pan troglodytes)
Mammalia GHITM 31 30
  • 99.52 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GHITM 31 30
  • 90.92 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ghitm 17 31 30
  • 90.53 (n)
cow
(Bos Taurus)
Mammalia GHITM 31 30
  • 90.24 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ghitm 30
  • 88.79 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GHITM 31
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GHITM 31
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves GHITM 31 30
  • 71.01 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GHITM 31
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ghitm 30
  • 70.63 (n)
Str.6400 30
African clawed frog
(Xenopus laevis)
Amphibia ghitm-prov 30
zebrafish
(Danio rerio)
Actinopterygii ghitm 31 30
  • 59.96 (n)
OneToOne
zgc66108 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10257 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009883 30
  • 55.63 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG2076 31 32 30
  • 53.64 (n)
OneToMany
CG1287 31 32
  • 45 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea K11H12.8 31 30
  • 56.69 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 69 (a)
OneToOne
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

ENSEMBL:
Gene Tree for GHITM (if available)
TreeFam:
Gene Tree for GHITM (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GHITM: view image

Paralogs for GHITM Gene

Paralogs for GHITM Gene

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

  • GHITM_HUMAN
  • Q5VT94_HUMAN
  • Q6FIA7_HUMAN
genes like me logo Genes that share paralogs with GHITM: view

Variants for GHITM Gene

Additional dbSNP identifiers (rs#s) for GHITM Gene

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

Human Gene Mutation Database (HGMD)
GHITM
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GHITM

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GHITM Gene

Disorders for GHITM Gene

MalaCards: The human disease database

(8) MalaCards diseases for GHITM Gene - From: DISEASES

Disorder Aliases PubMed IDs
inflammatory bowel disease 20
  • ibd20
nasal cavity disease
  • disorder of nasal cavity
nose disease
  • disorder of the nose
wheat allergy
  • allergy to wheat
respiratory allergy
  • airway allergy
- elite association - COSMIC cancer census association via MalaCards
Search GHITM in MalaCards View complete list of genes associated with diseases

Additional Disease Information for GHITM

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

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

Publications for GHITM Gene

  1. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41 54
  2. 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 41 54
  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 54
  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 41 54
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54

Products for GHITM Gene

  • Signalway ELISA kits for GHITM
  • Signalway Proteins for GHITM

Sources for GHITM Gene