Aliases for AAMDC Gene

Aliases for AAMDC Gene

  • Adipogenesis Associated Mth938 Domain Containing 2 3 5
  • Adipogenesis Associated Mth938 Domain-Containing Protein 3 4
  • Mth938 Domain-Containing Protein 3 4
  • C11orf67 3 4
  • Chromosome 11 Open Reading Frame 67 2
  • UPF0366 Protein C11orf67 3
  • PTD015 3
  • CK067 3

External Ids for AAMDC Gene

Previous HGNC Symbols for AAMDC Gene

  • C11orf67

Previous GeneCards Identifiers for AAMDC Gene

  • GC11P077533

Summaries for AAMDC Gene

GeneCards Summary for AAMDC Gene

AAMDC (Adipogenesis Associated Mth938 Domain Containing) is a Protein Coding gene.

UniProtKB/Swiss-Prot Summary for AAMDC Gene

Additional gene information for AAMDC Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AAMDC Gene

Genomics for AAMDC Gene

GeneHancer (GH) Regulatory Elements for AAMDC Gene

Promoters and enhancers for AAMDC 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 AAMDC on UCSC Golden Path with GeneCards custom track

Genomic Locations for AAMDC Gene

Genomic Locations for AAMDC Gene
chr11:77,821,107-77,918,432
(GRCh38/hg38)
Size:
97,326 bases
Orientation:
Plus strand
chr11:77,532,155-77,629,478
(GRCh37/hg19)
Size:
97,324 bases
Orientation:
Plus strand

Genomic View for AAMDC Gene

Genes around AAMDC on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for AAMDC Gene

Proteins for AAMDC Gene

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

    Protein Symbol:
    Q9H7C9-AAMDC_HUMAN
    Recommended name:
    Mth938 domain-containing protein
    Protein Accession:
    Q9H7C9
    Secondary Accessions:
    • Q96AQ4
    • Q9Y6B1

    Protein attributes for AAMDC Gene

    Size:
    122 amino acids
    Molecular mass:
    13332 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for AAMDC Gene

    Alternative splice isoforms for AAMDC Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AAMDC Gene

Post-translational modifications for AAMDC Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for AAMDC Gene

Domains & Families for AAMDC Gene

Gene Families for AAMDC Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for AAMDC Gene

Suggested Antigen Peptide Sequences for AAMDC Gene

GenScript: Design optimal peptide antigens:
  • UPF0366 protein C11orf67 (CK067_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H7C9

UniProtKB/Swiss-Prot:

AAMDC_HUMAN :
  • Belongs to the AAMDC family.
Family:
  • Belongs to the AAMDC family.
genes like me logo Genes that share domains with AAMDC: view

Function for AAMDC Gene

Molecular function for AAMDC Gene

UniProtKB/Swiss-Prot Function:
May play a role in preadipocyte differentiation and adipogenesis.

Phenotypes From GWAS Catalog for AAMDC Gene

Gene Ontology (GO) - Molecular Function for AAMDC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with AAMDC: view
genes like me logo Genes that share phenotypes with AAMDC: view

Animal Model Products

CRISPR Products

miRNA for AAMDC Gene

miRTarBase miRNAs that target AAMDC

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for AAMDC Gene

Localization for AAMDC Gene

Subcellular locations from UniProtKB/Swiss-Prot for AAMDC Gene

Cytoplasm. Note=Diffuse distribution with some highly concentrated spots around the nucleus. {ECO:0000250}.

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 AAMDC gene
Compartment Confidence
nucleus 3
cytosol 2
mitochondrion 1
extracellular 0
peroxisome 0
endoplasmic reticulum 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for AAMDC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm ISS,IBA --
genes like me logo Genes that share ontologies with AAMDC: view

Pathways & Interactions for AAMDC Gene

PathCards logo

SuperPathways for AAMDC Gene

No Data Available

Interacting Proteins for AAMDC Gene

Gene Ontology (GO) - Biological Process for AAMDC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0045600 positive regulation of fat cell differentiation IBA 21873635
genes like me logo Genes that share ontologies with AAMDC: view

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

Drugs & Compounds for AAMDC Gene

No Compound Related Data Available

Transcripts for AAMDC Gene

CRISPR Products

Clone Products

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

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6
SP1: - -
SP2: - - -
SP3: - - -
SP4:

Relevant External Links for AAMDC Gene

GeneLoc Exon Structure for
AAMDC
ECgene alternative splicing isoforms for
AAMDC

Expression for AAMDC Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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



Protein tissue co-expression partners for AAMDC Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of AAMDC Gene:

AAMDC

SOURCE GeneReport for Unigene cluster for AAMDC Gene:

Hs.745040

Evidence on tissue expression from TISSUES for AAMDC Gene

  • Nervous system(4.3)
  • Heart(2)
  • Muscle(2)
genes like me logo Genes that share expression patterns with AAMDC: view

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for AAMDC Gene

Orthologs for AAMDC Gene

This gene was present in the common ancestor of chordates.

Orthologs for AAMDC Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C11H11orf67 32
  • 99.73 (n)
AAMDC 33
  • 73 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AAMDC 33 32
  • 92.35 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Aamdc 17 33 32
  • 90.71 (n)
cow
(Bos Taurus)
Mammalia AAMDC 33 32
  • 90.71 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aamdc 32
  • 90.16 (n)
oppossum
(Monodelphis domestica)
Mammalia AAMDC 33
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves C1H11ORF67 33 32
  • 80.6 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AAMDC 33
  • 82 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii aamdc 33 32
  • 70.49 (n)
OneToOne
Species where no ortholog for AAMDC was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for AAMDC Gene

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

Paralogs for AAMDC Gene

(61) SIMAP similar genes for AAMDC Gene using alignment to 8 proteins:

  • AAMDC_HUMAN
  • E9PIQ4_HUMAN
  • E9PJP1_HUMAN
  • E9PLK9_HUMAN
  • E9PNP3_HUMAN
  • E9PR47_HUMAN
  • H0YF35_HUMAN
  • K4DI89_HUMAN
genes like me logo Genes that share paralogs with AAMDC: view

No data available for Paralogs for AAMDC Gene

Variants for AAMDC Gene

Sequence variations from dbSNP and Humsavar for AAMDC Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1000003919 -- 77,820,697(+) T/C upstream_transcript_variant
rs1000101202 -- 77,837,264(+) T/C genic_upstream_transcript_variant, intron_variant
rs1000113619 -- 77,846,393(+) C/A/T intron_variant
rs1000180370 -- 77,849,260(+) C/T intron_variant
rs1000189282 -- 77,878,553(+) C/A genic_downstream_transcript_variant, intron_variant

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

Variant ID Type Subtype PubMed ID
nsv1050891 CNV gain 25217958
nsv1138056 CNV deletion 24896259
nsv520740 CNV gain 19592680
nsv524537 CNV loss 19592680
nsv555453 CNV loss 21841781
nsv975953 CNV duplication 23825009

Variation tolerance for AAMDC Gene

Residual Variation Intolerance Score: 56.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.01; 80.08% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AAMDC Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
AAMDC

SNP Genotyping and Copy Number Assay Products

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

Disorders for AAMDC Gene

Additional Disease Information for AAMDC

No disorders were found for AAMDC Gene.

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

Publications for AAMDC Gene

  1. LOC66273 isoform 2, a novel protein highly expressed in white adipose tissue, induces adipogenesis in 3T3-L1 cells. (PMID: 22279136) Ma X … Li D (The Journal of nutrition 2012) 2 3 56
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56
  3. 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
  4. Assembly of the U5 snRNP component PRPF8 is controlled by the HSP90/R2TP chaperones. (PMID: 28515276) Malinová A … Verheggen C (The Journal of cell biology 2017) 3 56
  5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein MY … Mann M (Cell 2015) 3 56

Products for AAMDC Gene

Sources for AAMDC Gene