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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

TUBA4A Gene

protein-coding GIFtS: 60
GCID: GC02M220114

tubulin, alpha 4a

(Previous names: tubulin, alpha 1 (testis specific), tubulin, alpha 1 )
(Previous symbol: TUBA1)

Explore 21 diseases affiliated with
TUBA4A via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Tubulin, Alpha 4a¹ ²		FLJ30169¹
TUBA1¹ ² ³		Tubulin, Alpha 1¹
H2-ALPHA¹ ²		Tubulin Alpha-4A Chain²
Tubulin, Alpha 1 (Testis Specific)¹ ²		Alpha-Tubulin 1³
Tubulin Alpha-1 Chain² ³		Testis-Specific Alpha-Tubulin³
Tubulin H2-Alpha² ³

External Ids:	HGNC: 12407¹	Entrez Gene: 7277²	Ensembl: ENSG00000127824⁷	OMIM: 191110⁵	UniProtKB: P68366³

Export aliases for TUBA4A gene to outside databases

Previous GC identifers: GC02M219823 GC02M211967

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

Entrez Gene summary for TUBA4A:

Microtubules of the eukaryotic cytoskeleton perform essential and diverse functions and are composed of a heterodimer

of alpha and beta tubulin. The genes encoding these microtubule constituents are part of the tubulin superfamily,

which is composed of six distinct families. Genes from the alpha, beta and gamma tubulin families are found in all

eukaryotes. The alpha and beta tubulins represent the major components of microtubules, while gamma tubulin plays a

critical role in the nucleation of microtubule assembly. There are multiple alpha and beta tubulin genes and they are

highly conserved among and between species. This gene encodes an alpha tubulin that is a highly conserved homolog of a

rat testis-specific alpha tubulin. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: TBA4A_HUMAN, P68366

Function: Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on

the beta chain and one at a non-exchangeable site on the alpha chain

summary for TUBA4A:

Microtubules are cylindrical tubes of 20-25 nm in diameter. They are composed of protofilaments which are in

turn composed of alpha- and beta-tubulin polymers. Each microtubule is polarized, at one end alpha-subunits

are exposed (-) and at the other beta-subunits are exposed (+). Microtubules act as a scaffold to determine

cell shape, and provide a backbone for cell organelles and vesicles to move on, a process that requires

motor proteins. The major microtubule motor proteins are kinesin, which generally moves towards the (+) end

of the microtubule, and dynein, which generally moves towards the (-) end. Microtubules also form the

spindle fibers for separating chromosomes during mitosis.

Gene Wiki entry for TUBA4A

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000002.11 NC_018913.1 NT_005403.17

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the TUBA4A gene promoter:
E2F-4 E2F-3a E2F-5 E2F-1 Sp1 E2F E2F-2 PPAR-gamma2 Evi-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: TUBA4A promoter sequence

Search SABiosciences Chromatin IP Primers for TUBA4A

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TUBA4A

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q35 Ensembl cytogenetic band: 2q35 HGNC cytogenetic band: 2q36.1

TUBA4A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TUBA4A gene location

GeneLoc information about chromosome 2 GeneLoc Exon Structure

GeneLoc location for GC02M220114: view genomic region (about GC identifiers)

Start:	220,114,433 bp from pter	End:	220,142,892 bp from pter
Size:	28,460 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: TBA4A_HUMAN, P68366 (See protein sequence)

Recommended Name: Tubulin alpha-4A chain

Size: 448 amino acids; 49924 Da

Subunit: Dimer of alpha and beta chains

Subcellular location: Cytoplasm, cytoskeleton

Miscellaneous: This tubulin does not have a C-terminal tyrosine

Secondary accessions: B3KNQ6 P05215

Explore the universe of human proteins at neXtProt for TUBA4A: NX_P68366

Post-translational modifications:

Some glutamate residues at the C-terminus are polyglutamylated. This modification occurs exclusively on glutamate

residues and results in polyglutamate chains on the gamma-carboxyl group. Also monoglycylated but not polyglycylated

due to the absence of functional TTLL10 in human. Monoglycylation is mainly limited to tubulin incorporated into

axonemes (cilia and flagella) whereas glutamylation is prevalent in neuronal cells, centrioles, axonemes, and the

mitotic spindle. Both modifications can coexist on the same protein on adjacent residues, and lowering glycylation

levels increases polyglutamylation, and reciprocally. The precise function of such modifications is still unclear but

they regulate the assembly and dynamics of axonemal microtubules (Probable)¹

Acetylation of alpha chains at Lys-40 stabilizes microtubules and affects affinity and processivity of microtubule

motors. This modification has a role in multiple cellular functions, ranging from cell motility, cell cycle

progression or cell differentiation to intracellular trafficking and signaling (By similarity)¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P68366

TUBA4A Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_005991.1

ENSEMBL proteins:

ENSP00000248437 ENSP00000375938 ENSP00000396212 ENSP00000408194 ENSP00000416992

ENSP00000396061 ENSP00000404740

Reactome Protein details: P68366
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Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	TAS	--
GO:0005737	cytoplasm	--	--
GO:0005829	cytosol	TAS	--
GO:0005874	microtubule	IDA	--
GO:0005881	cytoplasmic microtubule	--	--

TUBA4A for ontologies About GeneDecksing

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

TUBA4A for domains About GeneDecksing

5/7 InterPro domains/families (see all 7):

IPR002452 Alpha_tubulin

IPR000217 Tubulin

IPR003008 Tubulin_FtsZ_GTPase

IPR023123 Tubulin_C

IPR008280 Tub_FtsZ_C

Graphical View of Domain Structure for InterPro Entry P68366

ProtoNet protein and cluster: P68366

UniProtKB/Swiss-Prot: TBA4A_HUMAN, P68366

Similarity: Belongs to the tubulin family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: TBA4A_HUMAN, P68366

Function: Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on

the beta chain and one at a non-exchangeable site on the alpha chain

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In Situ Assay
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Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003924	GTPase activity	IEA	--
GO:0005198	structural molecule activity	IEA	--
GO:0005200	structural constituent of cytoskeleton	--	--
GO:0005525	GTP binding	IEA	--

TUBA4A for ontologies About GeneDecksing

3 GenomeRNAi human phenotypes for TUBA4A:

Decreased DCP1a protein expres

Decreased cell number, increas

Decreased viability of wild-ty

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/29 super-pathways (see all 29) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Recruitment of mitotic centrosome proteins and complexes

Recruitment of mitotic centrosome proteins and complexes	1.00	Mitotic G2-G2/M phases	0.81
Centrosome maturation	1.00	Loss of proteins required for interphase microtubule organizationÂ from the centrosome	0.78
G2/M Transition	0.83	Loss of Nlp from mitotic centrosomes	0.78

M Phase

M Phase	1.00	Mitotic Anaphase	0.85
Mitotic M-M/G1 phases	0.88	Separation of Sister Chromatids	0.80
Mitotic Metaphase and Anaphase	0.85

Axon guidance

	Axon guidance	1.00			L1CAM interactions	0.39
	Developmental Biology	0.69			Recycling pathway of L1	0.15

Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane

	Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane	1.00			Post-chaperonin tubulin folding pathway	0.67
	Transport of connexons to the plasma membrane	0.93			Recruitment of NuMA to mitotic centrosomes	0.50

Formation of tubulin folding intermediates by CCT/TriC

	Formation of tubulin folding intermediates by CCT/TriC	1.00			Prefoldin mediated transfer of substrate to CCT/TriC	0.70
	Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding	0.74

Pathway sources
See GeneCards unified pathways
Show all pathways

5/9 EMD Millipore Pathways for TUBA4A (see all 9)

	Cytoskeleton remodeling Neurofilaments
	Cytoskeleton remodeling Slit-Robo signaling
	Cytoplasmic microtubules
	Cytoskeleton remodeling Reverse signaling by ephrin B
	Cytoskeleton remodeling Keratin filaments

5/10 GeneGo (Thomson Reuters) Pathways for TUBA4A (see all 10)

	Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway
	Cell cycle Spindle assembly and chromosome separation
	Regulation of CFTR activity (norm and CF)
	Neurophysiological process Receptor-mediated axon growth repulsion
	Cytoskeleton remodeling Keratin filaments

2 BioSystems Pathways for TUBA4A

	Parkin-Ubiquitin Proteasomal System pathway
	Pathogenic Escherichia coli infection

5/46 Reactome Pathways for TUBA4A (see all 46)

	L1CAM interactions
	Mitotic Prometaphase
	Membrane Trafficking
	Protein folding
	Recruitment of mitotic centrosome proteins and complexes

3 Kegg Pathways (Kegg details for TUBA4A):

	Phagosome
	Gap junction
	Pathogenic Escherichia coli infection

TUBA4A for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for TUBA4A

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/1034 Interacting proteins for TUBA4A (P68366^{2, 3} ENSP00000248437⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 1034)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
UCHL5	Q9Y5K5²^,³, ENSP00000356425⁴	MINT-4050722 MINT-7945693 MINT-7947479 I2D: score=1 STRING: ENSP00000356425
PLK1	P53350²^,³, ENSP00000300093⁴	MINT-7945693 MINT-7947479 I2D: score=4 STRING: ENSP00000300093
TCP1	P17987²^,³, ENSP00000317334⁴	MINT-7945693 MINT-7947479 I2D: score=4 STRING: ENSP00000317334
PSMC2	P35998²^,³	MINT-4050722 MINT-7945693 MINT-7947479 I2D: score=1
PSMC3	P17980²^,³	MINT-4050722 MINT-7945693 MINT-7947479 I2D: score=1

About this table

Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000086	G2/M transition of mitotic cell cycle	TAS	--
GO:0000226	microtubule cytoskeleton organization	--	--
GO:0000278	mitotic cell cycle	TAS	--
GO:0002576	platelet degranulation	TAS	--
GO:0006457	protein folding	TAS	--

TUBA4A for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Compounds for TUBA4A available from Tocris Bioscience About this table

Compound	Action	CAS #
XRP44X	Ras-Net pathway inhibitor	[729605-21-4]
Taxol	Promotes assembly and inhibits disassembly of microtubules	[33069-62-4]
Vincristine sulfate	Disrupts microtubules	[2068-78-2]
Vinblastine sulfate	Disrupts microtubules	[143-67-9]
Nocodazole	Microtubule inhibitor	[31430-18-9]

1 HMDB Compound for TUBA4A About this table

Compound	Synonyms	CAS #	PubMed Ids
Guanosine triphosphate	5'-GTP (see all 10)	86-01-1	--

5 DrugBank Compounds for TUBA4A About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Podofilox	--	477-47-4	target	inhibitor	1411635 20979080 20814887 20810285 19286405 20657644
Vincristine	22-Oxovincaleukoblastine (see all 12)	57-22-7	target	inhibitor	11168494 20691709 20442307
Epothilone B	EPO 906 (see all 3)	152044-54-7	target	--	17139284 17016423
Epothilone D	--	189453-10-9	target	--	17139284 17016423
Cabazitaxel	--	183133-96-2	target	binder	--

Search CenterWatch for drugs/clinical trials and news about TUBA4A / TBA4A

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for TUBA4A gene:

NM_006000.1

Unigene Cluster for TUBA4A:

Tubulin, alpha 4a

Hs.75318 [show with all ESTs]

Unigene Representative Sequence: AK054731

10 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000248437(uc002vkt.1) ENST00000392088(uc010zkz.1) ENST00000498660

ENST00000398989 ENST00000427737 ENST00000456818 ENST00000447205 ENST00000462806

ENST00000475683 ENST00000425551

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Additional cDNA sequence:

AK054731.1 AK299958.1 BC009238.2 BC018854.2 BT006731.1

21 DOTS entries:

DT.100810985 DT.95119848 DT.118885 DT.100810991 DT.121017611 DT.100810992 DT.95258481 DT.121017614

DT.100810987 DT.121017682 DT.91768481 DT.100810984 DT.100810990 DT.121017583 DT.121017618 DT.86845545

DT.121017490 DT.121017629 DT.91724808 DT.120658537 DT.120697624

24/486 AceView cDNA sequences (see all 486):

CA419818 BM993997 AL533290 AJ346123 BP366721 CA442729 BM543121 F28987

BQ638436 F08361 F25814 H25245 BM790051 F29341 F19414 CF141351

BQ687054 CR626582 BF797239 CR609291 BG758168 BQ054375 CB153748 CB153930

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for TUBA4A About this scheme

ExUns:	1	^	2	^	3	^	4a	·	4b	·	4c	^	5a	·	5b
SP1:			-
SP2:
SP3:

ECgene alternative splicing isoforms for TUBA4A

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

TUBA4A expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GAGGAGGGTG

About this image

TUBA4A expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

4 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Extraembryonic Mesoderm

Extraembryonic Capillary Plexus

Extraembryonic Angioblasts

Endothelium

Ovary

Primary Follicle

Primary Oocyte

Female Gametocytes, Germ Cells

Skeletal Muscle

Hyoid Arch Muscles

Muscle Progenitor Cells

Skeletal Muscle

Mandibular Arch Muscles

Muscle Progenitor Cells

Skeletal Muscle

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 4 LifeMap Cells

Name

Category

PureStem™ progenitor T36 (Embryonic Progenitor Cell)

ES04(HES-4) (Embryonic Stem Cell)

Early Embryo, Inner Cell Mass

Line H9 (WA09) (Embryonic Stem Cell)

Early Embryo, Inner Cell Mass

Cardiomyocyte-like cells (Spontaneous differen...)

See TUBA4A Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TUBA4A

SOURCE GeneReport for Unigene cluster: Hs.75318

SABiosciences Expression via Pathway-Focused PCR Array including TUBA4A:

Gap Junctions in human mouse rat

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TUBA4A Browse OriGene validated miRNA SYBR primer pairs
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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for TUBA4A gene from 6/22 species (see all 22) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	LOC100857247¹	tubulin alpha-5 chain-like	87.47(n) 97.54(a)		100857247 XM_003641644.1 XP_003641692.1
lizard (Anolis carolinensis)	Reptilia	TUBA4A⁶ --	--	96(a) 100(a)	1 ↔ 1 possible ortholog	1(95727087-95730292) GL343198.1(2625261-2625557)
zebrafish (Danio rerio)	Actinopterygii	tuba8l2¹	tubulin, alpha 8 like 2	82.59(n) 94.64(a)		393664 NM_200691.1 NP_956985.1
worm (Caenorhabditis elegans)	Secernentea	mec-12⁶	Tubulin alpha-3 chain	90(a)	possible ortholog	III(3131566-3139213)
thale cress (Arabidopsis thaliana)	eudicotyledons	TUA6⁶ TUA2⁶ (see all 6)	tubulin alpha-2/alpha-4 chain (see all 6)	82(a) 82(a) (see all 6)	possible ortholog possible ortholog (see all 6)	4(8548492-8550453) 1(18517586-18520000)
rice (Oryza sativa)	Liliopsida	Os.21762²	O.sativa mRNA for alpha-tubulin (clone OSTA-136)	79.58(n)		AK102560.1

ENSEMBL Gene Tree for TUBA4A (if available)
TreeFam Gene Tree for TUBA4A (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for TUBA4A gene

TUBA3C² TUBA1C² TUBA3D² TUBA1B² TUBAL3² TUBA1A² TUBA3E² TUBA8²

18/29 SIMAP similar genes for TUBA4A using alignment to 7 protein entries: TBA4A_HUMAN (see all proteins) (see all similar genes):

TUBA2 TUBA3C TUBA3D TUBA3E TUBA1 TUBA1A

TUBA1C TUBA1B TUBA4B TUBA8 DKFZp686L04275 TUBAL3

MGC16703 TUBB2A TUBB2B TUBB6 TUBB3 TUBB4Q

TUBA4A for paralogs About GeneDecksing

5/9 Pseudogenes.org Pseudogenes for TUBA4A (see all 9)
PGOHUM00000242759 PGOHUM00000239767 PGOHUM00000239052 PGOHUM00000240390 PGOHUM00000250484

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 2 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs11556348^1,2	C	--	211969736(-)	`GGAGGG/TGACGA`	1	--	us2k¹ ese³		1		NA	2
rs60500076^1,2	C,	--	211969987(+)	`GGAGGG/CTTGGG`	1	--	us2k¹		2		WA	120
rs45576041^1,2	C,F,	--	211970179(-)	`GGGGGC/G/TGCCTC`	1	--	us2k¹		6		NS WA	170
rs45617040^1,2	C,F	--	211970184(-)	`GTGGGG/TGGGGG`	1	--	us2k¹		6		NS WA	182
rs59623314^1,2	C,	--	211970227(+)	`TAGAAT/CTCATA`	1	--	us2k¹		2		WA	120
rs78769842^1,2	C,F,	--	211970253(+)	`TTCTTT/CCCTGT`	1	--	us2k¹		1		WA	118
rs72955459^1,2	C,F,	--	211970343(+)	`AAATCC/TCATCT`	1	--	us2k¹		1		NA	120
rs199808611^1,2	C	--	211971002(-)	`GAACCA/CCCCCC`	1	--	nc-transcript-variant		0	--	--	--	--
rs45468095^1,2	C,	--	211971395(-)	`GGGCGT/CTCCGG`	1	--	int¹		5		NS	160
rs12988689^1,2	H	--	211971631(+)	`AGAGGC/ATGGGC`	1	--	int¹		4		NS EA	418

HapMap Linkage Disequilibrium report for TUBA4A (220114433 - 220142892 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for TUBA4A: --

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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TUBA4A for disorders           About GeneDecksing

OMIM gene information: 191110    OMIM disorders: --

20/21 diseases for TUBA4A (see all 21):    About MalaCards

adenomatous polyposis coli esophageal squamous cell carcinoma squamous cell carcinoma tuberous sclerosis

fanconi's anemia myocardial infarction polyposis lissencephaly

colon adenocarcinoma anemia hepatocellular carcinoma esophagitis

carcinoma breast carcinoma lung cancer adenocarcinoma

breast cancer immunodeficiency malaria prostatitis

Human Genome Epidemiology (HuGE) Navigator: TUBA4A (1 document)

Export disorders for TUBA4A gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for TUBA4A gene, integrated from 9 sources (see all 143):
(articles sorted by number of sources associating them with TUBA4A)

Utopia: connect your pdf to the dynamic
world of online information

Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Alternative 5' exons either provide or deny an initiator methionine codon to the same alpha-tubulin coding region. (PubMed id 3029670)^{1, 2} Dobner P.R.... Villa-Komaroff L. (1987)
Six mouse alpha-tubulin mRNAs encode five distinct isotypes: testis- specific expression of two sister genes. (PubMed id 3785200)^{1, 3} Villasante A.... Cowan N.J. (1986)
A high-throughput approach for measuring temporal chan ges in the interactome. (PubMed id 22863883)¹ Kristensen A.R....Foster L.J. (2012)
Host cell interactome of HIV-1 Rev includes RNA helica ses involved in multiple facets of virus production. (PubMed id 22174317)¹ Naji S....Gerace L. (2012)
A census of human soluble protein complexes. (PubMed id 22939629)¹ Havugimana P.C....Emili A. (2012)
The interaction between ubiquitin C-terminal hydrolas e 37 and glucose-regulated protein 78 in hepatocellular carcinoma. (PubMed id 21800051)¹ Fang Y....Shen X. (2012)
Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)¹ Udeshi N.D....Carr S.A. (2012)
Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration. (PubMed id 22360420)¹ Martins-de-Souza D....Bahn S. (2012)

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

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 7277	HGNC: 12407	AceView: TUBA1	Ensembl:ENSG00000127824	euGenes: HUgn7277
ECgene: TUBA4A	Kegg: 7277	H-InvDB: TUBA4A

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for TUBA4A	Pharmacogenomics, SNPs, Pathways
NIEHS-SNPs	http://egp.gs.washington.edu/data/tuba1/
Wikipedia	http://en.wikipedia.org/wiki/Tubulin

Intellectual Property for TUBA4A gene
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Patent Information for TUBA4A gene:
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tubulin, alpha 4a

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