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ICA1L Gene

protein-coding GIFtS: 46

GC02M203350

islet cell autoantigen 1,69kDa-like
(Previous names: amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 15, amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 14 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: ALS2CR15, ALS2CR14)

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
About This Section

Aliases
ALS2CR14 ^², ³
ALS2CR15 ^², ³
DKFZp434E1919 ^²
MGC138440 ^²

Descriptions
Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 15 protein ^³
Ica69-related protein ^²
amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 14 ^¹, ²
amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 15 ^¹, ²
islet cell autoantigen 1,69kDa-like ^²

External Ids
HGNC: 14442¹
Entrez Gene: 130026²
UniProtKB: Q8NDH6³
Ensembl: ENSG00000163596⁷

Search outside databases for aliases for ICA1L gene

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the ICA1L gene

Entrez Gene cytogenetic band: 2q33.1 Ensembl cytogenetic band: 2q33.1 HGNC cytogenetic band: 2q33

ICA1L Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 2 GeneLoc Exon Structure

GeneLoc location for GC02M203350: (about GC identifiers)

Start:	203,346,118 bp from pter
End:	203,444,953 bp from pter
Size:	98,836 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000002.10 NT_005403.16

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: ICA1L_HUMAN, Q8NDH6 (See protein sequence)

Recommended Name: Islet cell autoantigen 1-like protein

Size: 482 amino acids; 54407 Da

Secondary accessions: Q53P45 Q53QZ4 Q53T97 Q96N47 Q96Q32 Q9BVQ2

Alternative splicing: 2 isoforms: Q8NDH6-1 Q8NDH6-2

REFSEQ proteins (2 alternative transcripts):

NP_612477.3 NP_839945.1

ENSEMBL proteins:

ENSP00000376070 ENSP00000351047 ENSP00000318003

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (ALS2CR15)
	Human Recombinant Proteins from Abnova (ICA1L)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

Antibodies for ICA1L:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibodies for ICA1L
	Browse R&D Systems for Antibodies
	Antibodies from Abcam (ALS2CR15), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (ICA1L)
	Novus Biologicals Antibody for ICA1L

Assays for ICA1L:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

Graphical View of Domain Structure for InterPro Entry Q8NDH6

ProtoNet protein and cluster: Q8NDH6

2 Blocks protein families:

IPB006723 Islet cell autoantigen ICA69 homologue

IPB010504 Arfaptin-like

UniProtKB/Swiss-Prot: ICA1L_HUMAN, Q8NDH6

Similarity: Contains 1 AH domain

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (ICA1L)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_138468

Applied Biosystems Silencer® siRNAs for ICA1L

Sigma-Aldrich siRNA for ICA1L

Sigma-Aldrich shRNA for ICA1L

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for ICA1L
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_138468
Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_138468
untagged cDNA clones in CMV expression vector (see all 3): AK094311

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_138468

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for ICA1L

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (ICA1L)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_138468

Sigma-Aldrich siRNA for ICA1L

Sigma-Aldrich shRNA for ICA1L

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_138468 NM_178231

REFSEQ mRNAs for ICA1L gene (2 alternative transcripts):

NM_138468.4 NM_178231.2

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_138468 NM_178231

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_138468
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_138468
                                 untagged cDNA clones in CMV expression vector (see all 3): AK094311

Additional cDNA sequence:

AB053316.1 AB053317.1 AK055978.1 AK092310.1 AK124756.1 AL833904.1 BC000993.2 BC063876.1

BC093902.1 BC112235.1

17 DOTS entries:

DT.91940439 DT.99937523 DT.99939323 DT.91982887 DT.40124826 DT.306976 DT.40275653 DT.121003209

DT.121003238 DT.306978 DT.433040 DT.121003220 DT.121003240 DT.40276650 DT.40293648 DT.91982888

DT.91979443

24/66 AceView cDNA sequences (see all 66 ):

CA447283 AL833904 BC063876 CD244054 AK092310 AU186027 AX747473 M78317

AA324506 AA774047 BU689994 BX279983 NM_138468 BC000993 AW592518 AK055978

AI952330 BP369364 AI308131 BG203848 BM129642 BF378039 AI693443 AI799206

highest scoring ESTs for ICA1L:

AK092310 AL833904 BX489626 CD244054 AA152043 AA152083 AA324506 AA774047 AB053317 AI799206

Unigene Cluster for ICA1L:

Islet cell autoantigen 1,69kDa-like

Hs.516629 [show with all ESTs]

Unigene Representative Sequence: NM_138468

GeneLoc Exon Structure

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

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:																									-

About this scheme

ECgene alternative splicing isoforms for ICA1L

3 Ensembl transcripts including schematic representations:

ENST00000392237 ENST00000358299 ENST00000315728

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

ICA1L expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for ICA1L

¹ / ² / ³

10 probe-sets matching ICA1L gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
64743_at²^{, 3}	U95-C	1	1.00	1.00	0.91	1.27	N66336	0.60	0.83	0.73	1
68858_at²^{, 3}	U95-E	2	0.88	0.96	0.76	0.76	H94622	0.60	0.83	0.73	1
230454_at²^{, 3}	U133-B	1	1.00	1.00	--	--	AW470508	0.40	0.75	0.60	1
223881_at²^{, 3}	U133-B	1	1.00	1.00	--	--	BC000993	0.60	0.83	0.73	1
224660_at²	U133-B	2	0.82	0.41	--	--	--	--	--	--	--
230454_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
1554205_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
223881_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
1555671_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
224660_at²	U133Plus2	2	0.82	0.41	--	--	--	--	--	--	--

GeneDecks ICA1L for binary patterns associated with the probe-sets selected above

About GeneDecksing

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: TGCTCTATCT

SOURCE GeneReport for Unigene cluster: Hs.516629

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for ICA1L gene from 5 species

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	ICA1L¹	--	islet cell autoantigen 1,69kDa-like	90.71(n) 87.73(a)	488479 XM_545600.2 XP_545600.2
chimpanzee (Pan troglodytes)	ICA1L¹	--	islet cell autoantigen 1,69kDa-like	97.16(n) 96.05(a)	459887 XM_001172880.1 XP_001172880.1
rat (Rattus norvegicus)	Ica1l¹	--	islet cell autoantigen 1-like	83.56(n) 80.18(a)	316432 NM_199400.1 NP_955432.1
mouse (Mus musculus)	Ica1l^{1, 5}	1⁵	islet cell autoantigen 1-like^{1, 5}	83.41(n)¹ 81.4(a)¹	70375¹ NM_027407.2¹ NP_081683.2¹ AK006525⁵ AK029991⁵ (see all 13)
zebrafish (Danio rerio)	Dr.17431²	--	Danio rerio mRNA similar to islet cell autoantigen more	75.31(n)	BC044404.1

About this table Species with no ortholog for ICA1L

ENSEMBL Gene Tree for ICA1L

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

Paralogs for ICA1L gene

ICA1²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/345 NCBI SNPs in ICA1L are shown (see all 345 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 53)

AB	SNP ID	Valid	Chr 2 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
	rs2036927^1,2	A,C,F,H	203348958(+)	`TGCAAC/TCTTTA`	1	--	ut3¹ ese³		9		EU EA WA NA	1719
	rs4675295^1,2	C,F,H	203397989(+)	`TGAGTA/GCAAGA`	2	--	int¹ ng5¹		4		EU EA WA	418
	rs4675290^1,2	A,C	203348084(+)	`TTATCC/TTGTCC`	1	--	ut3¹		0	--	--	--	--
--	rs7597959^1,2	A,C	203346118(+)	`tttttA/Taattt`	1	--	ut3¹		0	--	--	--	--
	rs10870^1,2	C,F	203347110(-)	`ACAAAT/CGAATT`	1	--	ut3¹		1		MN	184
--	rs7598328^1,2	A,C	203346428(+)	`TGTCAA/GTTAGG`	1	--	ut3¹		0	--	--	--	--
--	rs11695185^1,2	C	203348611(+)	`cctccC/CA /T/TGaagta`	1	--	ut3¹		0	--	--	--	--
--	rs11678755^1,2	C	203348633(+)	`aggcaC/Tctgcc`	1	--	ut3¹		0	--	--	--	--
--	rs11683818^1,2	C	203348573(+)	`cctccA/Gcctcc`	1	--	ut3¹		0	--	--	--	--
	rs1344959^1,2	C	203398632(+)	`ATGGGA/GATTAT`	2	--	ut3¹ int¹ ese³		0	--	--	--	--

About this table

HapMap Linkage Disequilibrium images for ICA1L (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
About This Section

7 PubMed articles for ICA1L gene:

A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. (PubMed id 11586298)^{2, 3, 4} Hadano S....Ikeda J.-E. (2001)
Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)^{3, 4} Hillier L.W....Wilson R.K. (2005)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{3, 4} Gerhard D.S....Malek J. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{3, 4} Ota T....Sugano S. (2004)
The full-ORF clone resource of the German cDNA Consortium. (PubMed id 17974005)⁴ Bechtel S....Schupp I. (2007)
Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)³ Kimura K.... Sugano S. (2006)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)³ Strausberg R.L....Marra M.A. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 130026	HGNC: 14442	AceView: ALS2CR15	Ensembl:ENSG00000163596	euGenes: HUgn130026
ECgene: ICA1L	H-InvDB: ICA1L

(According to HUGE)
About This Section

(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Licensable Technologies for ICA1L
(Available from WIS Yeda, Salk, Tufts)

About This Section

(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section

Products for ICA1L:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for ICA1L-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for ICA1L		Antibodies for ICA1L
	Explore super-pooled esiRNAs		Browse proteins at Sigma-Aldrich
	Lentivirus-delivered shRNAs for ICA1L		Browse small molecules at Sigma-Aldrich
	"Your Favorite Gene" Pathways		feedback

	Antibodies		Primer Pairs
	Cell Culture Products		ELISAs
	Flow Cytometry Kits		Protease Activity Assays & Reagents
	Cell Selection/Detection Kits & Reagents		ELISA/Assay Development Kits & Reagents
	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
	Recombinant & Natural Proteins

	Recombinant Proteins (ICA1L)
	Antibodies (ICA1L)
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	Custom Service for Mouse Mab
	Custom Service for Rabbit Pab from Full-length Protein

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	Recombinant Proteins (ALS2CR15)
	Antibodies (ALS2CR15)

Search OriGene for ICA1L

Search Tocris compounds for ICA1L

Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies

Antibodies for ICA1L

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ICA1L Gene at Home site.
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ICA1L Gene

protein-coding GIFtS: 46

Aliases &
Descriptions
for ICA1L

Summaries
for ICA1L

Genomic Location
for ICA1L

Proteins
for ICA1L

Protein Domains/
Families
for ICA1L

Gene Function
for ICA1L

Pathways & Interactions
for ICA1L

Drugs & Compounds
for ICA1L

Transcripts
for ICA1L

Expression
for ICA1L

Orthologs
for ICA1L

Paralogs
for ICA1L

SNPs/Variants
for ICA1L

Disorders & Mutations
for ICA1L

Medical News
for ICA1L

Publications
for ICA1L

Search for ICA1L

Genome Databases showing ICA1L

Other Databases showing ICA1L

Specialized Databases showing ICA1L

Licensable Technologies
for ICA1L

Services
for ICA1L

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

ICA1L Gene

protein-coding GIFtS: 46

Aliases & Descriptionsfor ICA1L

Summariesfor ICA1L

Genomic Locationfor ICA1L

Proteinsfor ICA1L

Protein Domains/Familiesfor ICA1L

Gene Functionfor ICA1L

Pathways & Interactionsfor ICA1L

Drugs & Compoundsfor ICA1L

Transcriptsfor ICA1L

Expression for ICA1L

Orthologsfor ICA1L

Paralogsfor ICA1L

SNPs/Variantsfor ICA1L

Disorders & Mutationsfor ICA1L

Medical Newsfor ICA1L

Publicationsfor ICA1L

Search for ICA1L

Genome Databases showing ICA1L

Other Databases showing ICA1L

Specialized Databases showing ICA1L

Licensable Technologiesfor ICA1L

Servicesfor ICA1L

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for ICA1L

Summaries
for ICA1L

Genomic Location
for ICA1L

Proteins
for ICA1L

Protein Domains/
Families
for ICA1L

Gene Function
for ICA1L

Pathways & Interactions
for ICA1L

Drugs & Compounds
for ICA1L

Transcripts
for ICA1L

Expression
for ICA1L

Orthologs
for ICA1L

Paralogs
for ICA1L

SNPs/Variants
for ICA1L

Disorders & Mutations
for ICA1L

Medical News
for ICA1L

Publications
for ICA1L

Licensable Technologies
for ICA1L

Services
for ICA1L