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Aliases for FAM212A Gene

Aliases for FAM212A Gene

  • Family With Sequence Similarity 212 Member A 2 3 5
  • Induced In Neural Crest By AP2-Alpha Protein Homolog 3 4
  • Induced In Neural Crest By AP-2alpha 2 3
  • C3orf54 3 4
  • HInca 3 4
  • INKA1 3 4
  • Family With Sequence Similarity 212, Member A 2
  • Chromosome 3 Open Reading Frame 54 2
  • PAK4-Inhibitor INKA1 3
  • Protein FAM212A 3

External Ids for FAM212A Gene

Previous HGNC Symbols for FAM212A Gene

  • C3orf54

Summaries for FAM212A Gene

GeneCards Summary for FAM212A Gene

FAM212A (Family With Sequence Similarity 212 Member A) is a Protein Coding gene. An important paralog of this gene is FAM212B.

UniProtKB/Swiss-Prot for FAM212A Gene

  • Inhibitor of the serine/threonine-protein kinase PAK4 (PubMed:26607847). Acts by binding PAK4 in a substrate-like manner, inhibiting the protein kinase activity (PubMed:26607847).

Additional gene information for FAM212A Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAM212A Gene

Genomics for FAM212A Gene

GeneHancer (GH) Regulatory Elements for FAM212A Gene

Promoters and enhancers for FAM212A 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
GH03I049802 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 573.9 +2.5 2545 7.2 HDGF CLOCK ARID4B SIN3A YBX1 DMAP1 ZNF2 ZNF766 ZNF207 ZNF143 FAM212A MIR5193 CDHR4 AMT WDR6 UBA7 GC03P049762 GC03P049763 GC03P049421
GH03I049721 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 23.4 -79.2 -79160 4.2 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 YY1 POLR2B E2F8 ZNF143 GC03M049731 GC03M049732 GC03P049723 GMPPB PIR51040 PIR59970 FAM212A AMT PHF5EP IP6K1
GH03I049784 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 23.5 -16.7 -16673 3.2 HDGF PKNOX1 CLOCK SMAD1 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 IP6K1 CDHR4 QRICH1 USP19 FAM212A CCDC36 ENSG00000225399 AMT PRKAR2A IMPDH2
GH03I049719 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 23.4 -83.7 -83699 1.6 HDGF CTCF MXI1 ZNF133 MAX BACH1 SIN3A EBF1 RAD21 CCNT2 AMIGO3 FAM212A GMPPB RNF123 MST1 GC03P049421
GH03I049338 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.7 -457.2 -457183 14.7 MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF143 SP3 NFYC ZC3H11A USP4 AMT QRICH1 ENSG00000235236 RBM6 ATRIP RBM5 WDR6 IP6K2 ENSG00000230454
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FAM212A on UCSC Golden Path with GeneCards custom track

Genomic Locations for FAM212A Gene

Genomic Locations for FAM212A Gene
chr3:49,803,233-49,805,033
(GRCh38/hg38)
Size:
1,801 bases
Orientation:
Plus strand
chr3:49,840,687-49,842,463
(GRCh37/hg19)

Genomic View for FAM212A Gene

Genes around FAM212A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM212A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM212A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM212A Gene

Proteins for FAM212A Gene

  • Protein details for FAM212A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96EL1-INKA1_HUMAN
    Recommended name:
    PAK4-inhibitor INKA1
    Protein Accession:
    Q96EL1

    Protein attributes for FAM212A Gene

    Size:
    285 amino acids
    Molecular mass:
    31328 Da
    Quaternary structure:
    • Interacts with PAK4 (PubMed:26607847).
    SequenceCaution:
    • Sequence=AAH12170.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for FAM212A Gene

neXtProt entry for FAM212A Gene

Post-translational modifications for FAM212A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FAM212A Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FAM212A Gene

Domains & Families for FAM212A Gene

Gene Families for FAM212A Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for FAM212A Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q96EL1

UniProtKB/Swiss-Prot:

INKA1_HUMAN :
  • Contains 2 Inka boxes (also named iBox or inca box) (PubMed:26607847). The Inka boxes bind and inhibit PAK4 by binding a substrate-like manner (PubMed:26607847).
  • Belongs to the INKA family.
Domain:
  • Contains 2 Inka boxes (also named iBox or inca box) (PubMed:26607847). The Inka boxes bind and inhibit PAK4 by binding a substrate-like manner (PubMed:26607847).
Family:
  • Belongs to the INKA family.
genes like me logo Genes that share domains with FAM212A: view

No data available for Suggested Antigen Peptide Sequences for FAM212A Gene

Function for FAM212A Gene

Molecular function for FAM212A Gene

UniProtKB/Swiss-Prot Function:
Inhibitor of the serine/threonine-protein kinase PAK4 (PubMed:26607847). Acts by binding PAK4 in a substrate-like manner, inhibiting the protein kinase activity (PubMed:26607847).

Phenotypes From GWAS Catalog for FAM212A Gene

Gene Ontology (GO) - Molecular Function for FAM212A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0019901 protein kinase binding IPI 26607847
GO:0030291 protein serine/threonine kinase inhibitor activity IDA 26607847
genes like me logo Genes that share ontologies with FAM212A: view
genes like me logo Genes that share phenotypes with FAM212A: view

Animal Models for FAM212A Gene

MGI Knock Outs for FAM212A:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for FAM212A Gene

Localization for FAM212A Gene

Subcellular locations from UniProtKB/Swiss-Prot for FAM212A Gene

Nucleus. Cytoplasm. Note=Mainly nuclear (PubMed:26607847). Relocalizes to the cytoplasm following interaction with PAK4 (PubMed:26607847). {ECO:0000269 PubMed:26607847}.

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 FAM212A gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 2

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for FAM212A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 26607847
GO:0005737 cytoplasm IEA,IDA 26607847
GO:0070062 extracellular exosome IDA,HDA 23376485
genes like me logo Genes that share ontologies with FAM212A: view

Pathways & Interactions for FAM212A Gene

SuperPathways for FAM212A Gene

No Data Available

Gene Ontology (GO) - Biological Process for FAM212A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0021915 neural tube development IEA --
GO:0071901 negative regulation of protein serine/threonine kinase activity IEA --
genes like me logo Genes that share ontologies with FAM212A: view

No data available for Pathways by source and SIGNOR curated interactions for FAM212A Gene

Drugs & Compounds for FAM212A Gene

No Compound Related Data Available

Transcripts for FAM212A Gene

mRNA/cDNA for FAM212A Gene

(2) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(32) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for FAM212A Gene

Family with sequence similarity 212, member A:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for FAM212A Gene

No ASD Table

Relevant External Links for FAM212A Gene

GeneLoc Exon Structure for
FAM212A
ECgene alternative splicing isoforms for
FAM212A

Expression for FAM212A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FAM212A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FAM212A Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x4.3) and Skin - Not Sun Exposed (Suprapubic) (x4.0).

Protein differential expression in normal tissues from HIPED for FAM212A Gene

This gene is overexpressed in Liver, secretome (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for FAM212A Gene



Protein tissue co-expression partners for FAM212A Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of FAM212A Gene:

FAM212A

SOURCE GeneReport for Unigene cluster for FAM212A Gene:

Hs.86674

Evidence on tissue expression from TISSUES for FAM212A Gene

  • Skin(4.2)
genes like me logo Genes that share expression patterns with FAM212A: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FAM212A Gene

Orthologs for FAM212A Gene

This gene was present in the common ancestor of chordates.

Orthologs for FAM212A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FAM212A 33 34
  • 99.65 (n)
cow
(Bos Taurus)
Mammalia FAM212A 33 34
  • 85.58 (n)
dog
(Canis familiaris)
Mammalia FAM212A 33 34
  • 85.29 (n)
mouse
(Mus musculus)
Mammalia Fam212a 33 16 34
  • 83.1 (n)
rat
(Rattus norvegicus)
Mammalia Fam212a 33
  • 83.1 (n)
oppossum
(Monodelphis domestica)
Mammalia FAM212A 34
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves FAM212A 33
  • 63.06 (n)
lizard
(Anolis carolinensis)
Reptilia FAM212A 34
  • 35 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fam212a 33
  • 52.2 (n)
zebrafish
(Danio rerio)
Actinopterygii fam212ab 33 34
  • 49.66 (n)
fam212aa 34
  • 31 (a)
OneToMany
wufi03b07 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4864 33
Species where no ortholog for FAM212A 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)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FAM212A Gene

ENSEMBL:
Gene Tree for FAM212A (if available)
TreeFam:
Gene Tree for FAM212A (if available)

Paralogs for FAM212A Gene

Paralogs for FAM212A Gene

genes like me logo Genes that share paralogs with FAM212A: view

Variants for FAM212A Gene

Sequence variations from dbSNP and Humsavar for FAM212A Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs1001005784 -- 49,802,427(+) G/T upstream_transcript_variant
rs1001071331 -- 49,804,000(+) C/A intron_variant
rs1001670157 -- 49,805,049(+) C/T downstream_transcript_variant
rs1002119886 -- 49,803,386(+) C/T 5_prime_UTR_variant, intron_variant
rs1002407139 -- 49,803,574(+) G/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for FAM212A Gene

Variant ID Type Subtype PubMed ID
nsv834688 CNV loss 17160897

Variation tolerance for FAM212A Gene

Residual Variation Intolerance Score: 61.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.97; 20.10% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FAM212A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAM212A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM212A Gene

Disorders for FAM212A Gene

Additional Disease Information for FAM212A

No disorders were found for FAM212A Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FAM212A Gene

Publications for FAM212A Gene

  1. An in cellulo-derived structure of PAK4 in complex with its inhibitor Inka1. (PMID: 26607847) Baskaran Y … Robinson RC (Nature communications 2015) 2 3 4 58
  2. Generation and characterization of a novel neural crest marker allele, Inka1-LacZ, reveals a role for Inka1 in mouse neural tube closure. (PMID: 20175189) Reid BS … Williams T (Developmental dynamics : an official publication of the American Association of Anatomists 2010) 2 3 58
  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 58
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 58
  5. Proteomic analysis of podocyte exosome-enriched fraction from normal human urine. (PMID: 23376485) Prunotto M … Moll S (Journal of proteomics 2013) 3 58

Products for FAM212A Gene

Sources for FAM212A Gene

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