Free for academic non-profit institutions. Other users need a Commercial license

Aliases for FAM136A Gene

Aliases for FAM136A Gene

  • Family With Sequence Similarity 136 Member A 2 3 5
  • Family With Sequence Similarity 136, Member A 2
  • Hypothetical Protein FLJ14668 2
  • Protein FAM136A 3

External Ids for FAM136A Gene

Previous GeneCards Identifiers for FAM136A Gene

  • GC02M070376
  • GC02M070523
  • GC02M070259

Summaries for FAM136A Gene

Entrez Gene Summary for FAM136A Gene

  • This gene encodes a mitochondrially localized protein that is highly conserved across species. The gene is expressed in a variety of tissues including human lymphoblast cells and rat neurosensorial epithelium of the cristaampullaris. A mutation in this gene has been associated with familial Meniere's disease, a chronic disorder of the inner ear. Several pseudogenes of this gene are found on other chromosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016]

GeneCards Summary for FAM136A Gene

FAM136A (Family With Sequence Similarity 136 Member A) is a Protein Coding gene. Diseases associated with FAM136A include Meniere Disease and Deafness, Autosomal Dominant 15.

Gene Wiki entry for FAM136A Gene

Additional gene information for FAM136A Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAM136A Gene

Genomics for FAM136A Gene

GeneHancer (GH) Regulatory Elements for FAM136A Gene

Promoters and enhancers for FAM136A 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
GH02J070300 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 664.3 +0.4 390 2 HDGF MLX ZFP64 ARID4B SIN3A DMAP1 YY1 POLR2B CBX5 ZNF207 FAM136A ENSG00000233849 TIA1 PCYOX1 TEX261
GH02J070303 Enhancer 1 Ensembl ENCODE 650.7 -1.9 -1910 0.8 ARID4B RAD21 RFX5 ZNF335 EGR1 ZNF143 CREM MIXL1 EGR2 ZNF654 FAM136A ATP6V1B1-AS1 VAX2 BRD7P6
GH02J070120 Promoter/Enhancer 2.2 FANTOM5 Ensembl ENCODE dbSUPER 10.9 +177.5 177455 7.5 HDGF PKNOX1 CLOCK SMAD1 FOXA2 ARNT SIN3A ZNF2 YY1 POLR2B LINC01816 TIA1 TEX261 ANKRD53 FAM136A PCYOX1 C2orf42 PCBP1-AS1 GC02P070121 GC02P069822
GH02J070130 Enhancer 2 VISTA FANTOM5 Ensembl ENCODE dbSUPER 11.2 +167.4 167358 7.6 HDGF PKNOX1 SMAD1 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 IRF4 TIA1 TEX261 PCBP1-AS1 FAM136A CLEC4F C2orf42 PCYOX1 MXD1 PCBP1 LINC01816
GH02J070107 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 12.2 +191.2 191241 7.3 HDGF PKNOX1 FOXA2 SMAD1 ARNT ARID4B SIN3A FEZF1 DMAP1 YY1 C2orf42 PCBP1-AS1 FAM136A GMCL1 NAGK SNRNP27 MXD1 PCYOX1 AAK1 PCBP1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FAM136A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FAM136A gene promoter:
  • AML1a
  • deltaCREB
  • CREB
  • FOXJ2 (long isoform)
  • FOXJ2
  • AREB6
  • Arnt
  • AhR
  • HSF1 (long)
  • HSF1short

Genomic Locations for FAM136A Gene

Genomic Locations for FAM136A Gene
chr2:70,295,975-70,302,090
(GRCh38/hg38)
Size:
6,116 bases
Orientation:
Minus strand
chr2:70,523,107-70,529,222
(GRCh37/hg19)
Size:
6,116 bases
Orientation:
Minus strand

Genomic View for FAM136A Gene

Genes around FAM136A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM136A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM136A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM136A Gene

Proteins for FAM136A Gene

  • Protein details for FAM136A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96C01-F136A_HUMAN
    Recommended name:
    Protein FAM136A
    Protein Accession:
    Q96C01
    Secondary Accessions:
    • Q96SS3

    Protein attributes for FAM136A Gene

    Size:
    138 amino acids
    Molecular mass:
    15641 Da
    Quaternary structure:
    No Data Available

neXtProt entry for FAM136A Gene

Post-translational modifications for FAM136A Gene

  • Ubiquitination at Lys48
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for FAM136A Gene

Domains & Families for FAM136A Gene

Gene Families for FAM136A Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for FAM136A Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FAM136A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96C01

UniProtKB/Swiss-Prot:

F136A_HUMAN :
  • Belongs to the FAM136 family.
Family:
  • Belongs to the FAM136 family.
genes like me logo Genes that share domains with FAM136A: view

Function for FAM136A Gene

Phenotypes From GWAS Catalog for FAM136A Gene

genes like me logo Genes that share phenotypes with FAM136A: view

Animal Model Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FAM136A Gene

Localization for FAM136A Gene

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 FAM136A gene
Compartment Confidence
mitochondrion 4
nucleus 3
cytosol 3
extracellular 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for FAM136A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005739 mitochondrion IEA --
genes like me logo Genes that share ontologies with FAM136A: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for FAM136A Gene

Pathways & Interactions for FAM136A Gene

SuperPathways for FAM136A Gene

No Data Available

Gene Ontology (GO) - Biological Process for FAM136A Gene

None

No data available for Pathways by source and SIGNOR curated interactions for FAM136A Gene

Drugs & Compounds for FAM136A Gene

No Compound Related Data Available

Transcripts for FAM136A Gene

Unigene Clusters for FAM136A Gene

Family with sequence similarity 136, member A:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for FAM136A Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b
SP1: -
SP2:

Relevant External Links for FAM136A Gene

GeneLoc Exon Structure for
FAM136A
ECgene alternative splicing isoforms for
FAM136A

Expression for FAM136A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FAM136A Gene

Protein differential expression in normal tissues from HIPED for FAM136A Gene

This gene is overexpressed in Nasal epithelium (24.4), Peripheral blood mononuclear cells (8.4), and Liver (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FAM136A Gene



Protein tissue co-expression partners for FAM136A Gene

NURSA nuclear receptor signaling pathways regulating expression of FAM136A Gene:

FAM136A

SOURCE GeneReport for Unigene cluster for FAM136A Gene:

Hs.516077

Evidence on tissue expression from TISSUES for FAM136A Gene

  • Muscle(4.2)
  • Nervous system(2.9)
genes like me logo Genes that share expression patterns with FAM136A: 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 FAM136A Gene

Orthologs for FAM136A Gene

This gene was present in the common ancestor of animals.

Orthologs for FAM136A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FAM136A 34 33
  • 99.76 (n)
OneToOne
dog
(Canis familiaris)
Mammalia -- 34
  • 96 (a)
OneToMany
LOC100688076 33
  • 91.06 (n)
-- 34
  • 91 (a)
OneToMany
-- 34
  • 83 (a)
OneToMany
cow
(Bos Taurus)
Mammalia FAM136A 34
  • 90 (a)
OneToMany
-- 34
  • 86 (a)
OneToMany
-- 34
  • 80 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Fam136a 16 34 33
  • 89.61 (n)
Fam136b-ps 34
  • 85 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Fam136a 33
  • 88.41 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia FAM136A 34
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 82 (a)
OneToMany
-- 34
  • 80 (a)
OneToMany
chicken
(Gallus gallus)
Aves LOC426296 33
  • 68.14 (n)
FAM136A 34
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.10079 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.14996 33
zebrafish
(Danio rerio)
Actinopterygii fam136a 34
  • 75 (a)
OneToOne
wufb72f05 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4968 33
fruit fly
(Drosophila melanogaster)
Insecta CG5327 34 33
  • 51.13 (n)
OneToMany
CG5323 34
  • 36 (a)
OneToMany
CG12661 34
  • 31 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ZK637.2 34
  • 34 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5803 34
  • 32 (a)
OneToOne
Species where no ortholog for FAM136A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • lizard (Anolis carolinensis)
  • 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 FAM136A Gene

ENSEMBL:
Gene Tree for FAM136A (if available)
TreeFam:
Gene Tree for FAM136A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FAM136A: view image

Paralogs for FAM136A Gene

No data available for Paralogs for FAM136A Gene

Variants for FAM136A Gene

Sequence variations from dbSNP and Humsavar for FAM136A Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs690016537 pathogenic, M\u00e9ni\u00e8re's disease 70,300,842(-) G/A coding_sequence_variant, stop_gained
rs1000143235 -- 70,298,155(-) C/T intron_variant
rs1000241990 -- 70,297,761(-) T/C intron_variant
rs1001019439 -- 70,303,004(-) G/A upstream_transcript_variant
rs1002328801 -- 70,302,050(-) C/G/T 5_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for FAM136A Gene

Variant ID Type Subtype PubMed ID
esv2760537 CNV gain 21179565
nsv518294 CNV loss 19592680
nsv963615 CNV duplication 23825009

Variation tolerance for FAM136A Gene

Residual Variation Intolerance Score: 79.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.48; 82.12% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FAM136A Gene

Human Gene Mutation Database (HGMD)
FAM136A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAM136A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM136A Gene

Disorders for FAM136A Gene

MalaCards: The human disease database

(9) MalaCards diseases for FAM136A Gene - From: HGMD, ClinVar, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for FAM136A

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 FAM136A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FAM136A Gene

Publications for FAM136A Gene

  1. Identification of two novel mutations in FAM136A and DTNA genes in autosomal-dominant familial Meniere's disease. (PMID: 25305078) Requena T … Lopez-Escamez JA (Human molecular genetics 2015) 2 3 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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. FIH Regulates Cellular Metabolism through Hydroxylation of the Deubiquitinase OTUB1. (PMID: 26752685) Scholz CC … Taylor CT (PLoS biology 2016) 3 58

Products for FAM136A Gene

Sources for FAM136A Gene

Content
Loading form....