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Aliases for FAM212B Gene

Aliases for FAM212B Gene

  • Family With Sequence Similarity 212 Member B 2 3 5
  • Induced In Neural Crest By AP2-Alpha Protein-Related Homolog 3 4
  • C1orf183 3 4
  • HInca-R 3 4
  • INKA2 3 4
  • Family With Sequence Similarity 212, Member B 2
  • Chromosome 1 Open Reading Frame 183 2
  • PAK4-Inhibitor INKA2 3
  • Protein FAM212B 3

External Ids for FAM212B Gene

Previous HGNC Symbols for FAM212B Gene

  • C1orf183

Previous GeneCards Identifiers for FAM212B Gene

  • GC01M112223

Summaries for FAM212B Gene

GeneCards Summary for FAM212B Gene

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

UniProtKB/Swiss-Prot for FAM212B Gene

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

Additional gene information for FAM212B 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 FAM212B Gene

Genomics for FAM212B Gene

GeneHancer (GH) Regulatory Elements for FAM212B Gene

Promoters and enhancers for FAM212B 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
GH01I111731 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 553.3 +19.4 19443 9.1 PKNOX1 CLOCK FOXA2 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 FAM212B FAM212B-AS1 DDX20 RAP1A C1orf162 GC01M111722
GH01I111754 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 +0.0 23 2.7 CLOCK MLX ZFP64 DMAP1 IRF4 YY1 E2F8 ZNF143 SP3 MEF2D DDX20 FAM212B LOC101928718 ST7L DRAM2 DENND2D CAPZA1 CEPT1 FAM212B-AS1
GH01I111473 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.6 +280.0 280011 5.5 HDGF PKNOX1 BATF ATF7 ETV6 BCLAF1 IKZF2 RUNX3 CBFB JUNB C1orf162 ENSG00000260948 OVGP1 KRT18P57 RNU6-151P PGCP1 FAM212B DDX20 GC01M111493 RNU6-792P
GH01I111601 Enhancer 1.2 Ensembl ENCODE dbSUPER 15.9 +152.1 152101 4.6 HDGF PKNOX1 SMAD1 RB1 BATF IRF4 ATF7 ETV6 BCLAF1 IKZF2 FAM212B RAP1A KRT18P57 RNU6-151P DDX20 C1orf162 LINC01160 PIFO TMIGD3 GC01P111550
GH01I111618 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 5.6 +135.2 135213 4.6 HDGF PKNOX1 ARNT ARID4B SIN3A YY1 SLC30A9 POLR2B ZNF766 ZNF213 RAP1A KRT18P57 RNU6-151P ATP5PB WDR77 FAM212B UBE2FP3 LINC01160 PIFO C1orf162
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FAM212B on UCSC Golden Path with GeneCards custom track

Genomic Locations for FAM212B Gene

Genomic Locations for FAM212B Gene
chr1:111,680,630-111,755,824
(GRCh38/hg38)
Size:
75,195 bases
Orientation:
Minus strand
chr1:112,223,252-112,298,446
(GRCh37/hg19)

Genomic View for FAM212B Gene

Genes around FAM212B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM212B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM212B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM212B Gene

Proteins for FAM212B Gene

  • Protein details for FAM212B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NTI7-INKA2_HUMAN
    Recommended name:
    PAK4-inhibitor INKA2
    Protein Accession:
    Q9NTI7
    Secondary Accessions:
    • B3KP38
    • B4DF94
    • Q9NTI6

    Protein attributes for FAM212B Gene

    Size:
    297 amino acids
    Molecular mass:
    32759 Da
    Quaternary structure:
    • Interacts with PAK4 (PubMed:26607847).
    SequenceCaution:
    • Sequence=BAG57355.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CAB69909.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

neXtProt entry for FAM212B Gene

Post-translational modifications for FAM212B Gene

No Post-translational modifications

Other Protein References for FAM212B Gene

No data available for DME Specific Peptides for FAM212B Gene

Domains & Families for FAM212B Gene

Gene Families for FAM212B Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for FAM212B Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q9NTI7

UniProtKB/Swiss-Prot:

INKA2_HUMAN :
  • The Inka box (also named iBox or inca box) binds and inhibits PAK4 by binding a substrate-like manner.
  • Belongs to the INKA family.
Domain:
  • The Inka box (also named iBox or inca box) binds and inhibits PAK4 by binding a substrate-like manner.
Family:
  • Belongs to the INKA family.
genes like me logo Genes that share domains with FAM212B: view

No data available for Suggested Antigen Peptide Sequences for FAM212B Gene

Function for FAM212B Gene

Molecular function for FAM212B Gene

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

Phenotypes From GWAS Catalog for FAM212B Gene

Gene Ontology (GO) - Molecular Function for FAM212B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0019901 protein kinase binding IPI 26607847
GO:0030291 protein serine/threonine kinase inhibitor activity ISS --
genes like me logo Genes that share ontologies with FAM212B: view
genes like me logo Genes that share phenotypes with FAM212B: view

Animal Models for FAM212B Gene

MGI Knock Outs for FAM212B:

miRNA for FAM212B Gene

miRTarBase miRNAs that target FAM212B

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for FAM212B Gene

Localization for FAM212B Gene

Subcellular locations from UniProtKB/Swiss-Prot for FAM212B 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 FAM212B gene
Compartment Confidence
nucleus 5
cytosol 2
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for FAM212B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 26607847
genes like me logo Genes that share ontologies with FAM212B: view

Pathways & Interactions for FAM212B Gene

SuperPathways for FAM212B Gene

No Data Available

Gene Ontology (GO) - Biological Process for FAM212B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0071901 negative regulation of protein serine/threonine kinase activity IEA --
genes like me logo Genes that share ontologies with FAM212B: view

No data available for Pathways by source and SIGNOR curated interactions for FAM212B Gene

Drugs & Compounds for FAM212B Gene

No Compound Related Data Available

Transcripts for FAM212B Gene

Unigene Clusters for FAM212B Gene

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

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for FAM212B Gene

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

Relevant External Links for FAM212B Gene

GeneLoc Exon Structure for
FAM212B
ECgene alternative splicing isoforms for
FAM212B

Expression for FAM212B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FAM212B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FAM212B Gene

This gene is overexpressed in Whole Blood (x12.5).

NURSA nuclear receptor signaling pathways regulating expression of FAM212B Gene:

FAM212B

SOURCE GeneReport for Unigene cluster for FAM212B Gene:

Hs.193406

Evidence on tissue expression from TISSUES for FAM212B Gene

  • Nervous system(4.5)
genes like me logo Genes that share expression patterns with FAM212B: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FAM212B Gene

Orthologs for FAM212B Gene

This gene was present in the common ancestor of chordates.

Orthologs for FAM212B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FAM212B 33 34
  • 99.44 (n)
cow
(Bos Taurus)
Mammalia FAM212B 33 34
  • 85.95 (n)
rat
(Rattus norvegicus)
Mammalia Fam212b 33
  • 80.36 (n)
mouse
(Mus musculus)
Mammalia Fam212b 33 16 34
  • 80.13 (n)
oppossum
(Monodelphis domestica)
Mammalia FAM212B 34
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FAM212B 34
  • 50 (a)
OneToOne
chicken
(Gallus gallus)
Aves C1ORF183 33
  • 62.85 (n)
FAM212B 34
  • 49 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FAM212B 34
  • 40 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fam212b 33
  • 54.41 (n)
Str.19495 33
zebrafish
(Danio rerio)
Actinopterygii LOC101886856 33
  • 48.65 (n)
Species where no ortholog for FAM212B 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)
  • dog (Canis familiaris)
  • 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)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FAM212B Gene

ENSEMBL:
Gene Tree for FAM212B (if available)
TreeFam:
Gene Tree for FAM212B (if available)

Paralogs for FAM212B Gene

Paralogs for FAM212B Gene

genes like me logo Genes that share paralogs with FAM212B: view

Variants for FAM212B Gene

Sequence variations from dbSNP and Humsavar for FAM212B Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000037753 -- 111,757,224(-) G/A upstream_transcript_variant
rs1000411220 -- 111,751,935(-) T/G genic_upstream_transcript_variant, intron_variant
rs1000483665 -- 111,744,888(-) A/G genic_upstream_transcript_variant, intron_variant
rs1000501124 -- 111,730,402(-) GTCG/G intron_variant
rs1000511744 -- 111,722,507(-) G/T 3_prime_UTR_variant

Variation tolerance for FAM212B Gene

Residual Variation Intolerance Score: 55.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.76; 16.06% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FAM212B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAM212B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for FAM212B Gene

Disorders for FAM212B Gene

Additional Disease Information for FAM212B

No disorders were found for FAM212B Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FAM212B Gene

Publications for FAM212B Gene

  1. Expression profiles of inka2 in the murine nervous system. (PMID: 26292052) Iwasaki Y … Sakakibara S (Gene expression patterns : GEP 2015) 2 3 58
  2. An in cellulo-derived structure of PAK4 in complex with its inhibitor Inka1. (PMID: 26607847) Baskaran Y … Robinson RC (Nature communications 2015) 3 4 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. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58

Products for FAM212B Gene

Sources for FAM212B Gene

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