Aliases for C2CD4C Gene

Aliases for C2CD4C Gene

  • C2 Calcium Dependent Domain Containing 4C 2 3 5
  • KIAA1957 2 3 4
  • C2 Calcium-Dependent Domain-Containing Protein 4C 3 4
  • Family With Sequence Similarity 148, Member C 2 3
  • Nuclear-Localized Factor 3 3 4
  • FAM148C 3 4
  • NLF3 3 4
  • Nuclear Localized Factor 3 2
  • Protein FAM148C 4

External Ids for C2CD4C Gene

Previous HGNC Symbols for C2CD4C Gene

  • KIAA1957
  • FAM148C

Previous GeneCards Identifiers for C2CD4C Gene

  • GC19M000363
  • GC19M000177

Summaries for C2CD4C Gene

GeneCards Summary for C2CD4C Gene

C2CD4C (C2 Calcium Dependent Domain Containing 4C) is a Protein Coding gene. An important paralog of this gene is C2CD4D.

Additional gene information for C2CD4C Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for C2CD4C Gene

Genomics for C2CD4C Gene

GeneHancer (GH) Regulatory Elements for C2CD4C Gene

Promoters and enhancers for C2CD4C 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
GH19J000408 Promoter/Enhancer 1.6 Ensembl ENCODE CraniofacialAtlas 750.6 +1.0 969 3.2 ZBTB40 KLF14 GLIS2 ZIC2 PRDM10 ZEB2 ZNF629 PATZ1 REST SP2 C2CD4C SHC2 ENSG00000267443
GH19J000506 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 4.8 -98.5 -98531 3 ZBTB40 CTCF SIX5 ZBTB6 LCORL MLX RBPJ POLR2A NR2F6 ATF1 ENSG00000266933 LOC105372232 TPGS1 DAZAP1 TMEM259 PTBP1 SBNO2 APC2 ENSG00000267317 CBARP
GH19J000266 Enhancer 0.9 ENCODE 11 +141.9 141949 0.8 CTCF ZBTB6 RBPJ L3MBTL2 RAD21 MNT POLR2A ZFX MLLT1 SP7 FJ601684-208 piR-35312-016 PLPP2 TMEM259 CIRBP WDR18 MED16 C2CD4C GRIN3B
GH19J000417 Enhancer 0.7 Ensembl ENCODE CraniofacialAtlas 10.7 -8.9 -8931 3 SP1 RFX1 NR2F2 THEG C2CD4C SHC2 ENSG00000272473 lnc-SHC2-1 piR-50543
GH19J000412 Enhancer 0.9 Ensembl ENCODE CraniofacialAtlas 8.5 -3.1 -3130 1.4 ZIC2 PATZ1 ZNF692 SP2 ZBTB17 POLR2A ZFP69B WT1 CTCF GLIS1 piR-50543 THEG C2CD4C SHC2 lnc-SHC2-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C2CD4C on UCSC Golden Path with GeneCards custom track

Genomic Locations for C2CD4C Gene

Genomic Locations for C2CD4C Gene
chr19:405,435-409,170
(GRCh38/hg38)
Size:
3,736 bases
Orientation:
Minus strand
chr19:405,438-409,170
(GRCh37/hg19)
Size:
3,733 bases
Orientation:
Minus strand

Genomic View for C2CD4C Gene

Genes around C2CD4C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C2CD4C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C2CD4C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C2CD4C Gene

Proteins for C2CD4C Gene

  • Protein details for C2CD4C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TF44-C2C4C_HUMAN
    Recommended name:
    C2 calcium-dependent domain-containing protein 4C
    Protein Accession:
    Q8TF44
    Secondary Accessions:
    • Q8N3H7

    Protein attributes for C2CD4C Gene

    Size:
    421 amino acids
    Molecular mass:
    44576 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB85543.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for C2CD4C Gene

Post-translational modifications for C2CD4C Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C2CD4C Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for C2CD4C Gene

Domains & Families for C2CD4C Gene

Gene Families for C2CD4C Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for C2CD4C Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for C2CD4C Gene

GenScript: Design optimal peptide antigens:
  • Protein FAM148C (C2C4C_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8TF44

UniProtKB/Swiss-Prot:

C2C4C_HUMAN :
  • Belongs to the C2CD4 family.
Family:
  • Belongs to the C2CD4 family.
genes like me logo Genes that share domains with C2CD4C: view

Function for C2CD4C Gene

Phenotypes From GWAS Catalog for C2CD4C Gene

genes like me logo Genes that share phenotypes with C2CD4C: view

Animal Models for C2CD4C Gene

MGI Knock Outs for C2CD4C:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C2CD4C

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for C2CD4C Gene

Localization for C2CD4C 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 C2CD4C gene
Compartment Confidence
nucleus 3
cytosol 3

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for C2CD4C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol IEA --
genes like me logo Genes that share ontologies with C2CD4C: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for C2CD4C Gene

Pathways & Interactions for C2CD4C Gene

PathCards logo

SuperPathways for C2CD4C Gene

No Data Available

Interacting Proteins for C2CD4C Gene

Selected Interacting proteins: Q8TF44-C2C4C_HUMAN for C2CD4C Gene via IID

Symbol External ID(s) Details
CTDSPL
RND1

Gene Ontology (GO) - Biological Process for C2CD4C Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C2CD4C Gene

Drugs & Compounds for C2CD4C Gene

No Compound Related Data Available

Transcripts for C2CD4C Gene

mRNA/cDNA for C2CD4C Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C2CD4C

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for C2CD4C Gene

No ASD Table

Relevant External Links for C2CD4C Gene

GeneLoc Exon Structure for
C2CD4C
ECgene alternative splicing isoforms for
C2CD4C

Expression for C2CD4C Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for C2CD4C Gene

mRNA differential expression in normal tissues according to GTEx for C2CD4C Gene

This gene is overexpressed in Brain - Cortex (x7.1), Brain - Anterior cingulate cortex (BA24) (x5.9), Brain - Amygdala (x5.4), Brain - Frontal Cortex (BA9) (x5.2), and Brain - Hypothalamus (x4.3).

Protein differential expression in normal tissues from HIPED for C2CD4C Gene

This gene is overexpressed in Fetal Brain (35.5), Frontal cortex (27.4), and Brain (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for C2CD4C Gene



Protein tissue co-expression partners for C2CD4C Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of C2CD4C Gene:

C2CD4C

SOURCE GeneReport for Unigene cluster for C2CD4C Gene:

Hs.223770

Evidence on tissue expression from TISSUES for C2CD4C Gene

  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with C2CD4C: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for C2CD4C Gene

Orthologs for C2CD4C Gene

This gene was present in the common ancestor of chordates.

Orthologs for C2CD4C Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C2CD4C 32
  • 98.68 (n)
cow
(Bos Taurus)
Mammalia C2CD4C 33
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia C2cd4c 17 33 32
  • 84.13 (n)
rat
(Rattus norvegicus)
Mammalia C2cd4c 32
  • 82.42 (n)
dog
(Canis familiaris)
Mammalia C2CD4C 33
  • 76 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia C2CD4C 33
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C2CD4C 33
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves C2CD4C 33 32
  • 70.85 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C2CD4C 33
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c2cd4c 32
  • 60.42 (n)
Str.13420 32
zebrafish
(Danio rerio)
Actinopterygii LOC568754 32
  • 61.28 (n)
C2CD4C (1 of 2) 33
  • 56 (a)
OneToMany
C2CD4C (2 of 2) 33
  • 54 (a)
OneToMany
Species where no ortholog for C2CD4C 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)
  • 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 C2CD4C Gene

ENSEMBL:
Gene Tree for C2CD4C (if available)
TreeFam:
Gene Tree for C2CD4C (if available)
Aminode:
Evolutionary constrained regions (ECRs) for C2CD4C: view image

Paralogs for C2CD4C Gene

genes like me logo Genes that share paralogs with C2CD4C: view

Variants for C2CD4C Gene

Sequence variations from dbSNP and Humsavar for C2CD4C Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1000253997 -- 408,392(-) G/T 5_prime_UTR_variant
rs1000410633 -- 405,268(-) G/C downstream_transcript_variant
rs1000637195 -- 409,118(-) G/A 5_prime_UTR_variant
rs1000752322 -- 405,690(-) G/A 3_prime_UTR_variant
rs1000800469 -- 408,566(-) GGCGG/GG intron_variant

Structural Variations from Database of Genomic Variants (DGV) for C2CD4C Gene

Variant ID Type Subtype PubMed ID
dgv6152n54 CNV gain 21841781
dgv6153n54 CNV loss 21841781
dgv6155n54 CNV loss 21841781
dgv6157n54 CNV loss 21841781
esv2671474 CNV deletion 23128226
nsv1065558 CNV gain 25217958
nsv428360 CNV gain 18775914
nsv470101 CNV loss 18288195
nsv509712 CNV insertion 20534489
nsv577978 CNV gain 21841781
nsv578066 CNV gain 21841781
nsv578085 CNV loss 21841781
nsv817810 CNV loss 17921354
nsv953938 CNV deletion 24416366

Variation tolerance for C2CD4C Gene

Gene Damage Index Score: 2.19; 39.57% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C2CD4C Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C2CD4C

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C2CD4C Gene

Disorders for C2CD4C Gene

Additional Disease Information for C2CD4C

No disorders were found for C2CD4C Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C2CD4C Gene

Publications for C2CD4C Gene

  1. Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins. (PMID: 11853319) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2001) 2 3 4 56
  2. A novel gene family induced by acute inflammation in endothelial cells. (PMID: 15527968) Warton K … Stanley KK (Gene 2004) 3 4 56
  3. Phenotypic and Interaction Profiling of the Human Phosphatases Identifies Diverse Mitotic Regulators. (PMID: 27880917) St-Denis N … Gingras AC (Cell reports 2016) 3 56
  4. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PMID: 23251661) Comuzzie AG … Butte NF (PloS one 2012) 3 56
  5. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PMID: 21406692) Rigbolt KT … Blagoev B (Science signaling 2011) 4 56

Products for C2CD4C Gene

Sources for C2CD4C Gene