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MUC3A Gene

protein-coding GIFtS: 46

GC07P100385

mucin 3A, cell surface associated
(Previous names: mucin 3A, intestinal )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: MUC3)

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

Aliases
MUC-3A ^³
MUC3 ^², ³
mucin ^²

Descriptions
Intestinal mucin-3A ^³
mucin 3, intestinal ^²
mucin 3A, cell surface associated ^²
mucin 3A, intestinal ^¹, ²

External Ids
HGNC: 7513¹
Entrez Gene: 4584²
UniProtKB: Q02505³
Ensembl: ENSG00000169894⁷

Search outside databases for aliases for MUC3A gene

Previous GC identifers: GC07U990056 GC07P100161 GC07P100196 GC07Ph99598 GC07Ph99599 GC07Ph99600

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

EntrezGene summary for MUC3A:

The mucin genes encode epithelial glycoproteins, some of which are secreted and some membrane

bound. Each of the genes contains at least one large domain of tandemly repeated sequence that

encodes the peptide sequence rich in serine and/or threonine residues, which carries most of the

O-linked glycosylation (Gendler and Spicer, 1995 [PubMed 7778880]).[supplied by OMIM]

UniProtKB/Swiss-Prot: MUC3A_HUMAN, Q02505

Function: Major glycoprotein component of a variety of mucus gels. Thought to provide a protective,

lubricating barrier against particles and infectious agents at mucosal surfaces. May be involved

in ligand binding and intracellular signaling

Gene Wiki entry for MUC3A

(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

Entrez Gene cytogenetic band: 7q22 Ensembl cytogenetic band: 7q22.1 HGNC cytogenetic band: 7q22

MUC3A 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 7 GeneLoc Exon Structure

GeneLoc location for GC07P100385: (about GC identifiers)

Start:	100,385,096 bp from pter
End:	100,398,339 bp from pter
Size:	13,244 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000007.12 NT_007933.14

(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: MUC3A_HUMAN, Q02505 (See protein sequence)

Recommended Name: Mucin-3A precursor

Size: 2541 amino acids; 265918 Da

Subcellular location: Isoform 1: Membrane; Single-pass membrane protein

Subcellular location: Isoform 2: Secreted

Subcellular location: Isoform 3: Secreted

Subcellular location: Isoform 4: Secreted

Subcellular location: Isoform 5: Secreted

Secondary accessions: O14650 O14651 O43418 O43421 Q02506 Q6W763 Q9H3Q7 Q9UKW9 Q9UN93 Q9UN94 Q9UN95

Alternative splicing: 5 isoforms: Q02505-1 Q02505-2 Q02505-3 Q02505-4 Q02505-5 (Additional isoforms seem to exist)

Post-translational modifications:

Highly O-glycosylated and probably also N-glycosylated¹

View phosphorylation sites using PhosphoSite²

ENSEMBL proteins:

ENSP00000324834 ENSP00000352007 ENSP00000368771

Human Recombinant Proteins

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	Recombinant Proteins from Abcam (MUC3, pan Mucin)
	Browse Abnova for Human Recombinant Proteins

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

4 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	NAS	9334251
GO:0005727	extrachromosomal circular DNA	IEA	--
GO:0016020	membrane	IEA	--
GO:0016021	integral to membrane	NAS	10405327 10512748

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Antibodies for MUC3A:

	Browse Antibodies Central at Invitrogen
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	Sigma-Aldrich Antibodies for MUC3A
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	Antibodies from Abcam (MUC3, pan Mucin), each with their Abpromise^SM
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	Search Novus for antibodies for MUC3A

Assays for MUC3A:

	Browse Invitrogen for biochemical assays
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	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 Q02505

ProtoNet protein and cluster: Q02505

UniProtKB/Swiss-Prot: MUC3A_HUMAN, Q02505

Similarity: Contains 1 EGF-like domain

Similarity: Contains 1 SEA 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.)
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Inhib. RNA:		Browse Invitrogen for RNAi
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Browse Origene for 29mer shRNA kit in GFP-retroviral vector

Applied Biosystems Silencer® siRNAs for MUC3A

Sigma-Aldrich siRNA for MUC3A

Browse shRNA at Sigma-Aldrich

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clone Ranger at Invitrogen for clones
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

Browse Origene for untagged/tagged cDNA clones in CMV expression vector

Primers:

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

Browse Origene genome-wide validated SYBR primer pairs

UniProtKB/Swiss-Prot: MUC3A_HUMAN, Q02505

Function: Major glycoprotein component of a variety of mucus gels. Thought to provide a protective,

lubricating barrier against particles and infectious agents at mucosal surfaces. May be involved

in ligand binding and intracellular signaling

2 Gene Ontology (GO) molecular function terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003674	molecular_function	ND	--
GO:0030197	extracellular matrix constituent, lubricant activity	NAS	9334251

About this table

(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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Gene Network Central^TM Interacting Genes and Proteins Network for MUC3A

3 Gene Ontology (GO) biological process terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007586	digestion	NAS	--
GO:0008150	biological_process	ND	--
GO:0030277	maintenance of gastrointestinal epithelium	NAS	--

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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 MUC3A
8 Novoseek chemical compound relationships for MUC3A gene

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
cesium chloride	53.99	1	14550470 (1)
periodate	39.06	1	9358856 (1)
oligonucleotide	13.25	2	8604237 (1), 11775866 (1)
galactose	8.67	3	8135773 (1)
cholesterol	0.00	3	12517055 (2), 14634353 (1)
steroid	0.00	4	9650551 (2), 15255542 (2)
calcium	0.00	2	12517055 (2)
progesterone	0.00	3	15255542 (2), 15737028 (1)

About this table

(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)
About This Section

Inhib. RNA:		Browse Invitrogen for RNAi
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

Browse Origene for 29mer shRNA kit in GFP-retroviral vector

Sigma-Aldrich siRNA for MUC3A

Browse shRNA at Sigma-Aldrich

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

XM_001725354

Browse Origene for untagged/tagged cDNA clones in CMV expression vector

Additional cDNA sequence:

AB038783.1 AB038784.1 AF007194.1 AF143371.1 AF143372.1 AF143373.1 AY307931.1 M55405.1

M55406.1 XM_001718082.1 XM_001725354.1 Z36791.1

11 DOTS entries:

DT.40127976 DT.100777667 DT.100777668 DT.95276628 DT.91874027 DT.95082764 DT.95229658 DT.95276625

DT.97809569 DT.99937929 DT.92417973

highest scoring ESTs for MUC3A:

M55405 M55406 AA314844 AW179032 AW376094 AW388275 AW388367 AW389323 AW389324 AW389325

Unigene Cluster for MUC3A:

Mucin 3A, cell surface associated

Hs.489354 [show with all ESTs]

Unigene Representative Sequence: AF007194

GeneLoc Exon Structure

3 Ensembl transcripts including schematic representations:

ENST00000319509 ENST00000332750 ENST00000379458

(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

MUC3A expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for MUC3A

¹ / ² / ³

9 probe-sets matching MUC3A 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
730_r_at²^{, 3}	U95-A	2	1.00	0.94	0.90	1.01	HG2147-HT2217	0.20	1.00	0.72	1
729_i_at²^{, 3}	U95-A	2	1.00	0.94	0.79	1.09	HG2147-HT2217	0.20	1.00	0.72	1
732_f_at²^{, 3}	U95-A	3	1.00	0.91	0.87	0.76	HG2148-HT2218	0.20	1.00	0.72	1
31745_at²^{, 3}	U95-A	2	1.00	0.66	0.56	1.18	AF007194	0.40	0.38	0.39	2
731_f_at²^{, 3}	U95-A	3	1.00	0.58	0.71	0.97	HG2147-HT2217	0.20	1.00	0.72	1
217117_x_at²^{, 3}	U133-A	2	1.00	0.68	--	--	AF007194	0.40	0.38	0.39	2
214676_x_at²	U133-A	2	1.00	0.55	--	--	--	--	--	--	--
217117_x_at²	U133Plus2	2	1.00	0.68	--	--	--	--	--	--	--
214676_x_at²	U133Plus2	2	1.00	0.55	--	--	--	--	--	--	--

About this table

Data from

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

CGAP SAGE TAG: CAGGGCTTCA

SOURCE GeneReport for Unigene cluster: Hs.489354
UniProtKB/Swiss-Prot: MUC3A_HUMAN, Q02505
Tissue specificity: Broad specificity; small intestine, colon, colonic tumors, heart, liver,
thymus, prostate, pancreas and gall bladder

(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 MUC3A gene from 1 species

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
chimpanzee (Pan troglodytes)	MUC3A¹	--	mucin 3A, cell surface associated	97.82(n) 98.08(a)	463613 XM_519272.2 XP_519272.2

About this table Species with no ortholog for MUC3A

ENSEMBL Gene Tree for MUC3A

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

Paralogs for MUC3A gene

ENSG00000169887²

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

10/263 NCBI SNPs in MUC3A are shown (see all 263 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 29)

AB	SNP ID	Valid	Chr 7 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
	rs7792083^1,2	A,C,F,H	100397492(+)	`CTGCCT/CGTTTC`	1	--	ut3¹		4		EU EA WA	418
	rs2904850^1,2	A,C,F,H	100390580(+)	`CACCCC/ATCCCC`	1	--	ut5¹ ese³		5		MN EU EA WA	598
	rs9691167^1,2	A,C,F,H	100389953(+)	`GTGTTC/TTCCAC`	1	--	ut5¹ ese³		3		EA WA	298
--	rs9691900^1,2	A,C	100390187(+)	`GCCTCC/TCCCAC`	1	--	ut5¹ ese³		0	--	--	--	--
--	rs10258821^1,2	A,C	100396789(+)	`ATTTCC/TATGTG`	1	H/Y	mis¹		0	--	--	--	--
	rs4500019^1,2	A,C	100397799(+)	`CCCTTC/TTGAGC`	1	--	ut3¹ trp³		0	--	--	--	--
--	rs10953310^1,2	C,H	100388861(+)	`ACTCGC/GAGCTT`	1	--	ng5¹ ese³		4		EU EA WA	402
--	rs4236548^1,2	A,C	100397789(+)	`GTATCC/TTTTCC`	1	--	ut3¹ trp³		0	--	--	--	--
--	rs3895074^1,2	F	100398302(+)	`TCCAGG/ATCTTC`	1	--	ut3¹		1		MN	184
--	rs4557629^1,2	C	100397334(+)	`gccgtC/Tgttgt`	1	--	ut3¹		0	--	--	--	--

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HapMap Linkage Disequilibrium images for MUC3A (up to first 250kb)

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

OMIM: 158371 disorders: 191390

10/30 Novoseek disease relationships for MUC3A gene (see all 30 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
metaplasia	56.93	10	11093805 (1), 11101634 (1), 7678777 (1), 11775866 (1) (see all 6)
adenocarcinoma	52.87	6	15737028 (1), 8859775 (1), 11076872 (1), 11274635 (1) (see all 5)
neoplastic transformation	45.25	1	11775866 (1)
colitis ulcerative	44.76	2	8813081 (1), 9931338 (1)
renal clear cell carcinoma	44.51	6	14550470 (3), 12010365 (1)
carcinoma bronchioloalveolar	43.98	2	11274635 (2)
dysplasia	43.16	8	16949933 (2), 8859775 (1), 9334836 (1), 11076872 (1)
colon cancer	43.00	10	8813081 (2), 7678777 (2), 8020672 (2), 1728605 (1) (see all 5)
gastric carcinoma	40.51	8	12719460 (4), 11775866 (2), 10592051 (1), 15737028 (1)
inflammatory bowel diseases	39.43	1	8813081 (1)

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Human Gene Mutation Database: MUC3A
Genetic Association Database: MUC3A

(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)
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10/109 PubMed articles for MUC3A gene (see all 109 ):

Multiple transcripts of MUC3: evidence for two genes, MUC3A and MUC3B. (PubMed id 10973822)^{2, 3, 4} Pratt W.S....Swallow D.M. (2000)
Molecular cloning of cDNAs derived from a novel human intestinal mucin gene. (PubMed id 2393399)^{2, 3, 4} Gum J.R. Jr.... Kim Y.S. (1990)
MUC3 human intestinal mucin. Analysis of gene structure, the carboxyl terminus, and a novel upstream repetitive region. (PubMed id 9334251)^{1, 3, 4} Gum J.R. Jr.... Kim Y.S. (1997)
The MUC3 gene encodes a transmembrane mucin and is alternatively spliced. (PubMed id 10405327)^{1, 3, 4} Williams S.J.... McGuckin M.A. (1999)
Initiation of transcription of the MUC3A human intestinal mucin from a TATA-less promoter and comparison with the MUC3B amino terminus. (PubMed id 12958310)^{3, 4} Gum J.R. Jr.... Kim Y.S. (2003)
The DNA sequence of human chromosome 7. (PubMed id 12853948)^{3, 4} Hillier L.W.... Wilson R.K. (2003)
Associations of distinct variants of the intestinal mucin gene MUC3A with ulcerative colitis and Crohn's disease. (PubMed id 11289722)^{3, 4} Kyo K.... Nakamura Y. (2001)
Genomic organization and structure of the 3' region of human MUC3: alternative splicing predicts membrane-bound and soluble forms of the mucin. (PubMed id 10512748)^{3, 4} Crawley S.C.... Kim Y.S. (1999)
Quantitative RT-PCR assay for MUC3 and VEGF mRNA in renal clear cell carcinoma: relationship with nuclear grade and prognosis. (PubMed id 14550470)^{1, 3} Leroy X....Porchet N. (2003)
Association of ulcerative colitis with rare VNTR alleles of the human intestinal mucin gene, MUC3. (PubMed id 9931338)^{1, 6} Kyo K....Nakamura Y. (1999)

(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: 4584	HGNC: 7513	Ensembl:ENSG00000169894	euGenes: HUgn4584	ECgene: MUC3A
H-InvDB: MUC3A

(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

Name	Description
ATLAS Chromosomes in Cancer entry for MUC3A	Genetics and Cytogenetics in Oncology and Haematology
Mucin database	http://www.medkem.gu.se/mucinbiology/databases/

Licensable Technologies for MUC3A
(Available from WIS Yeda, Salk, Tufts)

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(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
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Enzo Life Sciences, and/or Tocris Bioscience)
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Products for MUC3A:

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Free SNP selection tool

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MUC3A Gene

protein-coding GIFtS: 46

Aliases &
Descriptions
for MUC3A

Summaries
for MUC3A

Genomic Location
for MUC3A

Proteins
for MUC3A

Protein Domains/
Families
for MUC3A

Gene Function
for MUC3A

Pathways & Interactions
for MUC3A

Drugs & Compounds
for MUC3A

Transcripts
for MUC3A

Expression
for MUC3A

Orthologs
for MUC3A

Paralogs
for MUC3A

SNPs/Variants
for MUC3A

Disorders & Mutations
for MUC3A

Medical News
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Publications
for MUC3A

Search for MUC3A

Genome Databases showing MUC3A

Other Databases showing MUC3A

Specialized Databases showing MUC3A

Licensable Technologies
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Services
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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

MUC3A Gene

protein-coding GIFtS: 46

Aliases & Descriptionsfor MUC3A

Summariesfor MUC3A

Genomic Locationfor MUC3A

Proteinsfor MUC3A

Protein Domains/Familiesfor MUC3A

Gene Functionfor MUC3A

Pathways & Interactionsfor MUC3A

Drugs & Compoundsfor MUC3A

Transcriptsfor MUC3A

Expression for MUC3A

Orthologsfor MUC3A

Paralogsfor MUC3A

SNPs/Variantsfor MUC3A

Disorders & Mutationsfor MUC3A

Medical Newsfor MUC3A

Publicationsfor MUC3A

Search for MUC3A

Genome Databases showing MUC3A

Other Databases showing MUC3A

Specialized Databases showing MUC3A

Licensable Technologiesfor MUC3A

Servicesfor MUC3A

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 MUC3A

Summaries
for MUC3A

Genomic Location
for MUC3A

Proteins
for MUC3A

Protein Domains/
Families
for MUC3A

Gene Function
for MUC3A

Pathways & Interactions
for MUC3A

Drugs & Compounds
for MUC3A

Transcripts
for MUC3A

Expression
for MUC3A

Orthologs
for MUC3A

Paralogs
for MUC3A

SNPs/Variants
for MUC3A

Disorders & Mutations
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Medical News
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Publications
for MUC3A

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for MUC3A

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