Aliases for ICA1L Gene

Aliases for ICA1L Gene

  • Islet Cell Autoantigen 1 Like 2 3 5
  • Amyotrophic Lateral Sclerosis 2 Chromosomal Region Candidate Gene 14 Protein 3 4
  • Amyotrophic Lateral Sclerosis 2 Chromosomal Region Candidate Gene 15 Protein 3 4
  • Amyotrophic Lateral Sclerosis 2 (Juvenile) Chromosome Region, Candidate 14 2 3
  • Amyotrophic Lateral Sclerosis 2 (Juvenile) Chromosome Region, Candidate 15 2 3
  • Islet Cell Autoantigen 1-Like Protein 3 4
  • Islet Cell Autoantigen 1,69kDa-Like 2 3
  • ALS2CR14 3 4
  • ALS2CR15 3 4
  • Ica69-Related Protein 3

External Ids for ICA1L Gene

Previous HGNC Symbols for ICA1L Gene

  • ALS2CR15
  • ALS2CR14

Previous GeneCards Identifiers for ICA1L Gene

  • GC02M203350
  • GC02M203639
  • GC02M195484
  • GC02M202777
  • GC02M202780
  • GC02M202789
  • GC02M202790
  • GC02M202781
  • GC02M202782
  • GC02M202783
  • GC02M202784
  • GC02M202785
  • GC02M202786
  • GC02M202787
  • GC02M202788

Summaries for ICA1L Gene

GeneCards Summary for ICA1L Gene

ICA1L (Islet Cell Autoantigen 1 Like) is a Protein Coding gene. Diseases associated with ICA1L include Amyotrophic Lateral Sclerosis 2, Juvenile. Gene Ontology (GO) annotations related to this gene include protein domain specific binding. An important paralog of this gene is ICA1.

Additional gene information for ICA1L 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 ICA1L Gene

Genomics for ICA1L Gene

GeneHancer (GH) Regulatory Elements for ICA1L Gene

Promoters and enhancers for ICA1L 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
GH02J202870 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 750.6 +0.5 456 2.5 CTCF RBPJ CTBP1 USF2 CREB1 MYC L3MBTL2 MAX MNT RAD21 ICA1L NBEAL1 CYP20A1 RPL12P16 NOP58 ENSG00000228513 KRT8P15
GH02J202841 Promoter 0.3 EPDnew 750.3 +30.1 30108 0.1 KRT8P15 ICA1L
GH02J203497 Enhancer 1.1 FANTOM5 Ensembl ENCODE 11 -627.9 -627916 6.2 USF2 MAFK SP7 CREB1 ATF1 ZNF629 JUND ZBTB17 FOS FOSL1 NBEAL1 RAPH1 ICA1L CARF lnc-WDR12-4 piR-53298
GH02J203327 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 5.2 -456.8 -456816 4 ZBTB40 RBPJ POLR2A CREB1 ZNF362 L3MBTL2 MNT ZNF652 SP1 ZNF148 ABI2 ENSG00000256458 ENSG00000228513 CYP20A1 RPL12P16 RAPH1 NBEAL1 CARF ICA1L
GH02J203237 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 5.4 -367.2 -367221 3.2 ZNF785 SIN3A SP1 CTCF SREBF1 ZBTB6 LCORL FOXA1 RBPJ POLR2A CYP20A1 lnc-RAPH1-6 piR-34173 NOP58 CARF RPL12P16 ICOS ENSG00000228513 ICA1L RF00017-3406
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ICA1L on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ICA1L gene promoter:
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • SRF
  • SRF (504 AA)

Genomic Locations for ICA1L Gene

Genomic Locations for ICA1L Gene
chr2:202,773,150-202,871,985
(GRCh38/hg38)
Size:
98,836 bases
Orientation:
Minus strand
chr2:203,637,873-203,736,708
(GRCh37/hg19)
Size:
98,836 bases
Orientation:
Minus strand

Genomic View for ICA1L Gene

Genes around ICA1L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ICA1L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ICA1L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ICA1L Gene

Proteins for ICA1L Gene

  • Protein details for ICA1L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NDH6-ICA1L_HUMAN
    Recommended name:
    Islet cell autoantigen 1-like protein
    Protein Accession:
    Q8NDH6
    Secondary Accessions:
    • B3KRW6
    • Q53P45
    • Q53QZ4
    • Q53T97
    • Q96N47
    • Q96Q32
    • Q9BVQ2

    Protein attributes for ICA1L Gene

    Size:
    482 amino acids
    Molecular mass:
    54407 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ICA1L Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ICA1L Gene

Post-translational modifications for ICA1L Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ICA1L Gene

Domains & Families for ICA1L Gene

Gene Families for ICA1L Gene

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

Suggested Antigen Peptide Sequences for ICA1L Gene

GenScript: Design optimal peptide antigens:
  • Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 15 protein (ICA1L_HUMAN)
  • Islet cell autoantigen 1,69kDa-like (Q96Q33_HUMAN)
genes like me logo Genes that share domains with ICA1L: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ICA1L Gene

Function for ICA1L Gene

Phenotypes From GWAS Catalog for ICA1L Gene

Gene Ontology (GO) - Molecular Function for ICA1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0019904 protein domain specific binding IEA --
genes like me logo Genes that share ontologies with ICA1L: view
genes like me logo Genes that share phenotypes with ICA1L: view

Animal Models for ICA1L Gene

MGI Knock Outs for ICA1L:
  • Ica1l Ica1l<tm1b(EUCOMM)Hmgu>

Animal Model Products

CRISPR Products

miRNA for ICA1L Gene

miRTarBase miRNAs that target ICA1L

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ICA1L Gene

Localization for ICA1L 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 ICA1L gene
Compartment Confidence
mitochondrion 2
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ICA1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001669 acrosomal vesicle IEA --
genes like me logo Genes that share ontologies with ICA1L: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for ICA1L Gene

Pathways & Interactions for ICA1L Gene

PathCards logo

SuperPathways for ICA1L Gene

No Data Available

Gene Ontology (GO) - Biological Process for ICA1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007286 spermatid development IEA --
genes like me logo Genes that share ontologies with ICA1L: view

No data available for Pathways by source and SIGNOR curated interactions for ICA1L Gene

Drugs & Compounds for ICA1L Gene

No Compound Related Data Available

Transcripts for ICA1L Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ICA1L Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15
SP1: - -
SP2: -
SP3: -
SP4: - -
SP5: -

Relevant External Links for ICA1L Gene

GeneLoc Exon Structure for
ICA1L
ECgene alternative splicing isoforms for
ICA1L

Expression for ICA1L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ICA1L Gene

mRNA differential expression in normal tissues according to GTEx for ICA1L Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x4.2).

Protein differential expression in normal tissues from HIPED for ICA1L Gene

This gene is overexpressed in Plasma (60.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ICA1L Gene



Protein tissue co-expression partners for ICA1L Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ICA1L Gene:

ICA1L

SOURCE GeneReport for Unigene cluster for ICA1L Gene:

Hs.516629

Evidence on tissue expression from TISSUES for ICA1L Gene

  • Nervous system(4.6)
genes like me logo Genes that share expression patterns with ICA1L: 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 ICA1L Gene

Orthologs for ICA1L Gene

This gene was present in the common ancestor of animals.

Orthologs for ICA1L Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ICA1L 33 32
  • 99.18 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ICA1L 33 32
  • 90.71 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ICA1L 33 32
  • 88.63 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ica1l 17 33 32
  • 84.42 (n)
rat
(Rattus norvegicus)
Mammalia Ica1l 32
  • 83.56 (n)
oppossum
(Monodelphis domestica)
Mammalia ICA1L 33
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ICA1L 33
  • 69 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ical1 33 32
  • 62.49 (n)
OneToOne
Dr.17431 32
fruit fly
(Drosophila melanogaster)
Insecta CG10566 33 32
  • 51.64 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006627 32
  • 51.09 (n)
worm
(Caenorhabditis elegans)
Secernentea ric-19 33
  • 30 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9836 33
  • 28 (a)
OneToMany
Species where no ortholog for ICA1L was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • 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 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)

Evolution for ICA1L Gene

ENSEMBL:
Gene Tree for ICA1L (if available)
TreeFam:
Gene Tree for ICA1L (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ICA1L: view image

Paralogs for ICA1L Gene

Paralogs for ICA1L Gene

(3) SIMAP similar genes for ICA1L Gene using alignment to 15 proteins:

  • ICA1L_HUMAN
  • C9J0T2_HUMAN
  • C9J101_HUMAN
  • C9J1M7_HUMAN
  • C9J5Z0_HUMAN
  • C9J9Z8_HUMAN
  • C9JAQ4_HUMAN
  • C9JDK6_HUMAN
  • C9JDM8_HUMAN
  • C9JEN4_HUMAN
  • C9JEP0_HUMAN
  • C9JP49_HUMAN
  • C9JRB6_HUMAN
  • F8WBK1_HUMAN
  • F8WBQ1_HUMAN
genes like me logo Genes that share paralogs with ICA1L: view

Variants for ICA1L Gene

Sequence variations from dbSNP and Humsavar for ICA1L Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000024739 -- 202,827,120(-) G/A intron_variant
rs1000069047 -- 202,854,890(-) G/T genic_upstream_transcript_variant, intron_variant
rs1000069672 -- 202,807,158(-) G/A genic_downstream_transcript_variant, intron_variant
rs1000082519 -- 202,834,167(-) T/A genic_upstream_transcript_variant, intron_variant
rs1000085303 -- 202,848,333(-) A/C genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ICA1L Gene

Variant ID Type Subtype PubMed ID
dgv7253n54 CNV gain 21841781
nsv460020 CNV gain 19166990
nsv470510 CNV gain 18288195
nsv584182 CNV gain 21841781
nsv963763 CNV duplication 23825009
nsv963764 CNV duplication 23825009
nsv979168 CNV duplication 23825009

Variation tolerance for ICA1L Gene

Residual Variation Intolerance Score: 58.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.43; 42.90% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ICA1L Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ICA1L

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ICA1L Gene

Disorders for ICA1L Gene

MalaCards: The human disease database

(1) MalaCards diseases for ICA1L Gene - From: GeneCards

Disorder Aliases PubMed IDs
amyotrophic lateral sclerosis 2, juvenile
  • als2
- elite association - COSMIC cancer census association via MalaCards
Search ICA1L in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ICA1L

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ICA1L: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ICA1L Gene

Publications for ICA1L Gene

  1. A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. (PMID: 11586298) Hadano S … Ikeda JE (Nature genetics 2001) 2 3 4 56
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 43 56
  3. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4 56
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56
  5. 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

Products for ICA1L Gene

Sources for ICA1L Gene