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. Diseases associated with AAMDC include Ovarian Lymphoma.

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
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
GH11J077818 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 516.1 -0.2 -206 4.6 FOXK2 HNRNPK ZBTB40 ZNF217 EP300 CTCF SIN3A NRF1 POLR2G SP1 AAMDC RSF1 lnc-INTS4-4 INTS4 LINC02728 ENSG00000241782 ENSG00000255449 ENSG00000254459
GH11J077993 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 13.7 +173.5 173482 3.2 FOXK2 ZBTB40 ZNF217 EP300 SIN3A NRF1 TCF12 POLR2G SP1 NCOR1 INTS4 lnc-THRSP-7 AAMDC KCTD21-AS1 FJ601684-065
GH11J077588 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 13.5 -230.7 -230719 4 NRF1 POLR2G NCOR1 PHF8 ZFX ZNF10 ZIC2 POLR2A KDM6A ZBTB10 AQP11 AAMDC INTS4 CLNS1A GDPD4 lnc-CLNS1A-3
GH11J077636 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 12.3 -183.9 -183906 3.2 FOXK2 ZBTB40 ZNF217 SIN3A NRF1 TCF12 USF1 POLR2G SP1 GTF2E2 CLNS1A INTS4 AAMDC RSF1 lnc-CLNS1A-3
GH11J077958 Enhancer 0.9 Ensembl ENCODE 17.5 +138.1 138116 1.7 NCOR1 NFIC PBX2 NR2F1 TAL1 HDAC2 FOXM1 NRF1 TCF12 DPF2 piR-60638-001 INTS4 AAMDC AQP11 piR-57707-001
- 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

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

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
cytoskeleton 1
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 IBA,ISS --
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

mRNA/cDNA for AAMDC Gene

7 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

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

Expression for AAMDC Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 30
  • 99.73 (n)
AAMDC 31
  • 73 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AAMDC 31 30
  • 92.35 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Aamdc 17 31 30
  • 90.71 (n)
cow
(Bos Taurus)
Mammalia AAMDC 31 30
  • 90.71 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aamdc 30
  • 90.16 (n)
oppossum
(Monodelphis domestica)
Mammalia AAMDC 31
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves C1H11ORF67 31 30
  • 80.6 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AAMDC 31
  • 82 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii aamdc 31 30
  • 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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AAMDC Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs2186564 - p.Val92Met

Additional dbSNP identifiers (rs#s) for AAMDC Gene

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

MalaCards: The human disease database

(1) MalaCards diseases for AAMDC Gene - From: DISEASES

Disorder Aliases PubMed IDs
ovarian lymphoma
- elite association - COSMIC cancer census association via MalaCards
Search AAMDC in MalaCards View complete list of genes associated with diseases

Additional Disease Information for AAMDC

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

No data available for 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 54
  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 54
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  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 54
  5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein MY … Mann M (Cell 2015) 3 54

Products for AAMDC Gene

Sources for AAMDC Gene