Aliases for FAM136A Gene
Aliases for FAM136A Gene
External Ids for FAM136A Gene
- HGNC: 25911
- Entrez Gene: 84908
- Ensembl: ENSG00000035141
- OMIM: 616275
- UniProtKB: Q96C01
Previous GeneCards Identifiers for FAM136A Gene
- GC02M070376
- GC02M070523
- GC02M070259
Summaries 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.
Additional gene information for FAM136A Gene
- Monarch Initiative
- Search for FAM136A at DataMed
- Search for FAM136A at HumanCyc
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
- 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
Regulatory Element Products
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:
-
- 2p13.3 by Entrez Gene
- 2p13.3 by HGNC
- 2p13.3 by Ensembl
FAM136A Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- Q96SS3
Protein attributes for FAM136A Gene
- Size:
- 138 amino acids
- Molecular mass:
- 15641 Da
- Quaternary structure:
- No Data Available
Protein Expression for FAM136A Gene
Post-translational modifications for FAM136A Gene
Other Protein References for FAM136A Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for FAM136A
- Invitrogen Antibodies for FAM136A
- Search GeneTex for Antibodies for FAM136A
Protein Products
-
OriGene Purified Proteins for FAM136A
- Search Origene for MassSpec and Protein Over-expression Lysates for FAM136A
- Origene Custom Protein Services for FAM136A
- Search GeneTex for Proteins for FAM136A
Assay Products
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- Family:
-
- Belongs to the FAM136 family.
Function for FAM136A Gene
Phenotypes From GWAS Catalog for FAM136A Gene
Phenotypes for FAM136A Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for FAM136A
-
CRISPR Products
-
OriGene CRISPR knockouts for FAM136A
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- genomics-online: gRNA clones - Search results for 123 available FAM136A gene related products
- Overview of 123 available FAM136A gene related products
- Applied Biological Materials CRISPR for FAM136A
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for FAM136A
- GenScript: Design CRISPR guide RNA sequences for FAM136A
miRNA for FAM136A Gene
- miRTarBase miRNAs that target FAM136A
-
- hsa-mir-192-5p (MIRT026311)
- hsa-mir-26b-5p (MIRT029130)
- hsa-mir-92a-3p (MIRT049500)
- hsa-let-7b-5p (MIRT052030)
- hsa-mir-9500 (MIRT452773)
- hsa-mir-6819-5p (MIRT452774)
- hsa-mir-6812-5p (MIRT452775)
- hsa-mir-6737-5p (MIRT452776)
- hsa-mir-27b-3p (MIRT452777)
- hsa-mir-27a-3p (MIRT452778)
- hsa-mir-513a-5p (MIRT452779)
- hsa-mir-6742-5p (MIRT452780)
- hsa-mir-6769b-5p (MIRT452781)
- hsa-mir-6769a-5p (MIRT452782)
- hsa-mir-92a-2-5p (MIRT452783)
- hsa-mir-654-5p (MIRT452784)
- hsa-mir-541-3p (MIRT452785)
- hsa-mir-6747-5p (MIRT452786)
- hsa-mir-608 (MIRT452787)
- hsa-mir-4651 (MIRT452788)
- hsa-mir-4664-5p (MIRT452789)
- hsa-mir-342-5p (MIRT452790)
- hsa-mir-6077 (MIRT452791)
- hsa-mir-7-5p (MIRT452792)
- hsa-mir-6821-3p (MIRT452793)
- hsa-mir-6790-3p (MIRT452794)
- hsa-mir-3117-5p (MIRT452795)
- hsa-mir-3688-3p (MIRT452796)
- hsa-mir-590-5p (MIRT452797)
- hsa-mir-21-5p (MIRT452798)
- hsa-mir-4662b (MIRT452799)
- hsa-mir-4647 (MIRT452800)
- hsa-mir-4426 (MIRT452801)
- hsa-mir-6727-3p (MIRT712498)
- hsa-mir-4722-3p (MIRT712499)
- hsa-mir-499b-5p (MIRT712500)
- hsa-mir-4494 (MIRT712501)
- hsa-mir-618 (MIRT712502)
- hsa-mir-649 (MIRT712503)
- hsa-mir-490-3p (MIRT712504)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for FAM136A
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- genomics-online: shRNA clones - Search results for 123 available FAM136A gene related products
- Overview of 123 available FAM136A gene related products
Clone Products
- Sino Biological Human cDNA Clone for FAM136A
- VectorBuilder custom plasmid, inducible vectors for FAM136A
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for FAM136A
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for FAM136A
- Applied Biological Materials Clones for FAM136A
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for FAM136A
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
| Compartment | Confidence |
|---|---|
| mitochondrion | 4 |
| nucleus | 3 |
| cytosol | 3 |
| extracellular | 2 |
- Mitochondria (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IDA | -- |
| GO:0005739 | mitochondrion | IEA | -- |
No data available for Subcellular locations from UniProtKB/Swiss-Prot for FAM136A Gene
Pathways & Interactions for FAM136A Gene
No Data Available
Interacting Proteins for FAM136A Gene
GPS-Prot Interaction Network for FAM136A
No data available for Pathways by source and SIGNOR curated interactions for FAM136A Gene
Transcripts for FAM136A Gene
mRNA/cDNA for FAM136A Gene
- (6) REFSEQ mRNAs :
- (8) Additional mRNA sequences :
- (247) Selected AceView cDNA sequences:
- (6) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000037869 1810 bps (uc002sgq.5)
- ENST00000460307 2398 bps (uc061kjb.1)
- ENST00000450256 936 bps (uc061kjc.1)
- ENST00000430566 885 bps (uc061kjd.1)
- ENST00000438759 518 bps (uc061kje.1)
Unigene Clusters for FAM136A Gene
CRISPR Products
-
OriGene CRISPR knockouts for FAM136A
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for FAM136A
- genomics-online: gRNA clones - Search results for 123 available FAM136A gene related products
- Overview of 123 available FAM136A gene related products
- Applied Biological Materials CRISPR for FAM136A
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for FAM136A
- GenScript: Design CRISPR guide RNA sequences for FAM136A
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for FAM136A
- Browse OriGene Inhibitory RNA Products For FAM136A
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAM136A
- genomics-online: shRNA clones - Search results for 123 available FAM136A gene related products
- Overview of 123 available FAM136A gene related products
Clone Products
- Sino Biological Human cDNA Clone for FAM136A
- VectorBuilder custom plasmid, inducible vectors for FAM136A
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for FAM136A
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for FAM136A
- Applied Biological Materials Clones for FAM136A
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3a | · | 3b |
|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||
| SP2: |
Expression 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
NURSA nuclear receptor signaling pathways regulating expression of FAM136A Gene:
FAM136ASOURCE GeneReport for Unigene cluster for FAM136A Gene:
Hs.516077Evidence on tissue expression from TISSUES for FAM136A Gene
- Muscle(4.2)
- Nervous system(2.9)
Primer Products
-
OriGene qPCR primer pairs and template standards for FAM136A
-
OriGene qPCR primer pairs for FAM136A
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | FAM136A 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | -- 34 |
|
OneToMany | |
| LOC100688076 33 |
|
||||
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| cow (Bos Taurus) |
Mammalia | FAM136A 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| mouse (Mus musculus) |
Mammalia | Fam136a 16 34 33 |
|
||
| Fam136b-ps 34 |
|
OneToMany | |||
| rat (Rattus norvegicus) |
Mammalia | Fam136a 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | FAM136A 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| chicken (Gallus gallus) |
Aves | LOC426296 33 |
|
||
| FAM136A 34 |
|
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 |
|
OneToOne | |
| wufb72f05 33 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.4968 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | CG5327 34 33 |
|
OneToMany | |
| CG5323 34 |
|
OneToMany | |||
| CG12661 34 |
|
OneToMany | |||
| worm (Caenorhabditis elegans) |
Secernentea | ZK637.2 34 |
|
OneToOne | |
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.5803 34 |
|
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
Pseudogenes.org Pseudogenes for FAM136A Gene
No data available for Paralogs for FAM136A Gene
Variants 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM136A Gene
Disorders for FAM136A Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| meniere disease |
|
|
| deafness, autosomal dominant 15 |
|
|
| deafness, autosomal dominant 11 |
|
|
| deafness, autosomal dominant 9 |
|
|
| deafness, autosomal dominant 28 |
|
|
Search FAM136A in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for FAM136A
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for FAM136A Gene
Publications for FAM136A Gene
- 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
- Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
- Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
- 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
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- Novus Biologicals Tissue Microarrays
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- VectorBuilder custom plasmid, inducible vectors for FAM136A
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- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneTex for Antibodies for FAM136A
- Search GeneTex for Proteins for FAM136A
- Horizon Cell Lines for FAM136A
- genomics-online: cdna clones - Search results for 123 available FAM136A gene related products
- Overview of 123 available FAM136A gene related products
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- Overview of 123 available FAM136A gene related products
- genomics-online: gRNA clones - Search results for 123 available FAM136A gene related products
- Overview of 123 available FAM136A gene related products
- genomics-online: primer clones - Search results for 123 available FAM136A gene related products
- Overview of 123 available FAM136A gene related products
- genomics-online: shRNA clones - Search results for 123 available FAM136A gene related products
- Overview of 123 available FAM136A gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for FAM136A
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Sources for FAM136A Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
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