Aliases for TMEM94 Gene

Aliases for TMEM94 Gene

  • Transmembrane Protein 94 2 3 4 5
  • KIAA0195 2 3 4
  • IDDCDF 3

External Ids for TMEM94 Gene

Previous HGNC Symbols for TMEM94 Gene

  • KIAA0195

Summaries for TMEM94 Gene

GeneCards Summary for TMEM94 Gene

TMEM94 (Transmembrane Protein 94) is a Protein Coding gene. Diseases associated with TMEM94 include Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies and Body Dysmorphic Disorder.

Additional gene information for TMEM94 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TMEM94 Gene

Genomics for TMEM94 Gene

GeneHancer (GH) Regulatory Elements for TMEM94 Gene

Promoters and enhancers for TMEM94 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TMEM94 on UCSC Golden Path with GeneCards custom track

Genomic Locations for TMEM94 Gene

Genomic Locations for TMEM94 Gene
chr17:75,441,159-75,500,452
(GRCh38/hg38)
Size:
59,294 bases
Orientation:
Plus strand
chr17:73,437,240-73,496,533
(GRCh37/hg19)
Size:
59,294 bases
Orientation:
Plus strand

Genomic View for TMEM94 Gene

Genes around TMEM94 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMEM94 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMEM94 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMEM94 Gene

Proteins for TMEM94 Gene

  • Protein details for TMEM94 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q12767-TMM94_HUMAN
    Recommended name:
    Transmembrane protein 94
    Protein Accession:
    Q12767
    Secondary Accessions:
    • C9JL75
    • O75536
    • Q86XF1

    Protein attributes for TMEM94 Gene

    Size:
    1356 amino acids
    Molecular mass:
    151151 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA12108.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for TMEM94 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TMEM94 Gene

Post-translational modifications for TMEM94 Gene

  • Glycosylation at Asn475, Asn516, Asn1202, and Asn1205
  • Ubiquitination at Lys6, Lys644, and Lys648
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TMEM94 Gene

Domains & Families for TMEM94 Gene

Gene Families for TMEM94 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

Protein Domains for TMEM94 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TMEM94 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ58673, highly similar to Transmembrane protein 94 (B4E3Q5_HUMAN)
  • Transmembrane protein 94 (K0195_HUMAN)
genes like me logo Genes that share domains with TMEM94: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for TMEM94 Gene

Function for TMEM94 Gene

Phenotypes From GWAS Catalog for TMEM94 Gene

genes like me logo Genes that share phenotypes with TMEM94: view

Human Phenotype Ontology for TMEM94 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TMEM94 Gene

MGI Knock Outs for TMEM94:
  • Tmem94 Tmem94<tm1a(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMEM94

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for TMEM94 Gene

Localization for TMEM94 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM94 Gene

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 TMEM94 gene
Compartment Confidence
plasma membrane 3
nucleus 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Nuclear bodies (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TMEM94 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TMEM94: view

Pathways & Interactions for TMEM94 Gene

PathCards logo

SuperPathways for TMEM94 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TMEM94 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for TMEM94 Gene

Drugs & Compounds for TMEM94 Gene

No Compound Related Data Available

Transcripts for TMEM94 Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMEM94

Alternative Splicing Database (ASD) splice patterns (SP) for TMEM94 Gene

No ASD Table

Relevant External Links for TMEM94 Gene

GeneLoc Exon Structure for
TMEM94
ECgene alternative splicing isoforms for
TMEM94

Expression for TMEM94 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

NURSA nuclear receptor signaling pathways regulating expression of TMEM94 Gene:

TMEM94

mRNA Expression by UniProt/SwissProt for TMEM94 Gene:

Q12767-TMM94_HUMAN
Tissue specificity: Expressed ubiquitously.

Evidence on tissue expression from TISSUES for TMEM94 Gene

  • Nervous system(4.9)
  • Bone marrow(4.2)
  • Liver(4.2)
genes like me logo Genes that share expression patterns with TMEM94: view

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for TMEM94 Gene

Orthologs for TMEM94 Gene

This gene was present in the common ancestor of animals.

Orthologs for TMEM94 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KIAA0195 33 32
  • 99.63 (n)
OneToOne
dog
(Canis familiaris)
Mammalia KIAA0195 33 32
  • 90.81 (n)
OneToOne
cow
(Bos Taurus)
Mammalia KIAA0195 33 32
  • 90.36 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KIAA0195 33
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia 2310067B10Rik 33 32
  • 89.28 (n)
OneToOne
Tmem94 17
platypus
(Ornithorhynchus anatinus)
Mammalia KIAA0195 33
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves KIAA0195 33 32
  • 75.98 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KIAA0195 33
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kiaa0195 32
  • 70.58 (n)
zebrafish
(Danio rerio)
Actinopterygii si:dkeyp-67e6.4 33
  • 68 (a)
OneToOne
LOC795408 32
  • 67.47 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000576 32
  • 50.34 (n)
fruit fly
(Drosophila melanogaster)
Insecta l(2)k05819 33 32
  • 48.98 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea D1007.15 33 32
  • 41.03 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 28 (a)
OneToMany
-- 33
  • 23 (a)
OneToMany
Species where no ortholog for TMEM94 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • 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 TMEM94 Gene

ENSEMBL:
Gene Tree for TMEM94 (if available)
TreeFam:
Gene Tree for TMEM94 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TMEM94: view image

Paralogs for TMEM94 Gene

No data available for Paralogs for TMEM94 Gene

Variants for TMEM94 Gene

Sequence variations from dbSNP and Humsavar for TMEM94 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1163944538 pathogenic, TMEM94-related condition, Intellectual developmental disorder with cardiac defects and dysmorphic facies 75,494,906(+) AAAAAA/AAAAAAA coding_sequence_variant, frameshift, non_coding_transcript_variant
rs1352010373 pathogenic, TMEM94-related condition, Intellectual developmental disorder with cardiac defects and dysmorphic facies 75,489,265(+) G/C genic_upstream_transcript_variant, splice_acceptor_variant
rs1567950778 pathogenic, Intellectual developmental disorder with cardiac defects and dysmorphic facies 75,489,311(+) C/ 5_prime_UTR_variant, coding_sequence_variant, frameshift, genic_upstream_transcript_variant, non_coding_transcript_variant
rs1567985127 pathogenic, Intellectual developmental disorder with cardiac defects and dysmorphic facies 75,499,087(+) G/A genic_downstream_transcript_variant, intron_variant
rs193921068 uncertain-significance, Malignant tumor of prostate 75,489,661(+) A/G coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for TMEM94 Gene

Variant ID Type Subtype PubMed ID
esv3582912 CNV loss 25503493
esv3641265 CNV gain 21293372
nsv1138579 CNV deletion 24896259
nsv470603 CNV loss 18288195
nsv476677 CNV novel sequence insertion 20440878
nsv516133 CNV loss 19592680
nsv576027 CNV gain 21841781
nsv833541 CNV loss 17160897
nsv833542 CNV loss 17160897
nsv952368 CNV deletion 24416366

Variation tolerance for TMEM94 Gene

Residual Variation Intolerance Score: 5.42% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.17; 39.28% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TMEM94 Gene

Human Gene Mutation Database (HGMD)
TMEM94
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMEM94

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMEM94 Gene

Disorders for TMEM94 Gene

MalaCards: The human disease database

(3) MalaCards diseases for TMEM94 Gene - From: HGMD, OMIM, ClinVar, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

TMM94_HUMAN
  • Intellectual developmental disorder with cardiac defects and dysmorphic facies (IDDCDF) [MIM:618316]: An autosomal recessive neurodevelopmental disorder characterized by global developmental delay, intellectual disability, congenital heart malformations, and facial dysmorphism. Dysmorphic features include triangular face, deep set eyes, broad nasal root and tip and anteverted nostrils, thick arched eye brows, hypertrichosis, pointed chin, and hypertelorism. {ECO:0000269 PubMed:30526868}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for TMEM94

genes like me logo Genes that share disorders with TMEM94: view

No data available for Genatlas for TMEM94 Gene

Publications for TMEM94 Gene

  1. Prediction of the coding sequences of unidentified human genes. V. The coding sequences of 40 new genes (KIAA0161-KIAA0200) deduced by analysis of cDNA clones from human cell line KG-1. (PMID: 8724849) Nagase T … Nomura N (DNA research : an international journal for rapid publication of reports on genes and genomes 1996) 2 3 4 56
  2. 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 56
  3. The Functional Proximal Proteome of Oncogenic Ras Includes mTORC2. (PMID: 30639242) Kovalski JR … Khavari PA (Molecular cell 2019) 3 56
  4. Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism. (PMID: 30526868) Stephen J … Malicdan MCV (American journal of human genetics 2018) 4 56
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 56

Products for TMEM94 Gene

Sources for TMEM94 Gene