Human Gene FKTN (uc011lvy.2)
Description: Homo sapiens fukutin (FKTN), transcript variant 2, mRNA.
RefSeq Summary (NM_006731): The protein encoded by this gene is a putative transmembrane protein that is localized to the cis-Golgi compartment, where it may be involved in the glycosylation of alpha-dystroglycan in skeletal muscle. The encoded protein is thought to be a glycosyltransferase and could play a role in brain development. Defects in this gene are a cause of Fukuyama-type congenital muscular dystrophy (FCMD), Walker-Warburg syndrome (WWS), limb-girdle muscular dystrophy type 2M (LGMD2M), and dilated cardiomyopathy type 1X (CMD1X). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2010].
Transcript (Including UTRs)
Position: hg19 chr9:108,320,411-108,403,399 Size: 82,989 Total Exon Count: 7 Strand: +
Coding Region
Position: hg19 chr9:108,337,314-108,397,367 Size: 60,054 Coding Exon Count: 6
Data last updated at UCSC: 2013-06-14
Sequence and Links to Tools and Databases
Primer design for this transcript
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): FKTN
CDC HuGE Published Literature: FKTN
Positive Disease Associations: menarche (age at onset)
Related Studies: menarche (age at onset) Perry ,et al. 2009, Meta-analysis of genome-wide association data identifies two loci influencing age at menarche, Nature genetics 2009 .
[PubMed 19448620 ]
MalaCards Disease Associations
MalaCards Gene Search: FKTN
Diseases sorted by gene-association score: muscular dystrophy-dystroglycanopathy , type a, 4 * (1681), muscular dystrophy-dystroglycanopathy , type c, 4 * (1567), cardiomyopathy, dilated, 1x * (1236), muscular dystrophy-dystroglycanopathy , type b, 4 * (1200), walker-warburg syndrome * (811), fktn-related dilated cardiomyopathy * (500), fukuyama type muscular dystrophy * (400), muscle eye brain disease * (220), congenital muscular dystrophy without intellectual disability * (202), fktn-related muscle diseases * (200), familial isolated dilated cardiomyopathy * (56), muscular dystrophy (30), muscular dystrophy-dystroglycanopathy , type b, 5 (20), cobblestone lissencephaly (14), muscular dystrophy, congenital merosin-deficient (11), dilated cardiomyopathy 1b (11), lissencephaly (11), muscular dystrophy, congenital, 1b (8), ablepharon-macrostomia syndrome (7), muscular dystrophy-dystroglycanopathy , type b, 6 (7), becker muscular dystrophy (7), muscular dystrophy, congenital (7), muscular dystrophy, limb-girdle, type 2l (7), cardiomyopathy (6), erythema infectiosum (6), muscle tissue disease (5), dilated cardiomyopathy (3), congenital nervous system abnormality (1)* = Manually curated disease association
Comparative Toxicogenomics Database (CTD)
The following chemicals interact with this gene
Common Gene Haplotype Alleles
Press "+" in the title bar above to open this section.
RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
Microarray Expression Data
Press "+" in the title bar above to open this section.
mRNA Secondary Structure of 3' and 5' UTRs
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Protein Domain and Structure Information
InterPro Domains: Graphical view of domain structure IPR009644 - Fukutin-related
ModBase Predicted Comparative 3D Structure on B4E2W4
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Mouse Rat Zebrafish D. melanogaster C. elegans S. cerevisiae
No ortholog No ortholog No ortholog No ortholog No ortholog No ortholog
Gene Details
Gene Sorter
Descriptions from all associated GenBank mRNAs
AB609007 - Homo sapiens mRNA for patient fukutin, complete cds.AK304460 - Homo sapiens cDNA FLJ58999 complete cds, highly similar to Fukutin (EC 2.-.-.-).BC058842 - Homo sapiens fukutin, mRNA (cDNA clone IMAGE:6709437), containing frame-shift errors.AK300840 - Homo sapiens cDNA FLJ60899 complete cds, highly similar to Fukutin (EC 2.-.-.-).AB008226 - Homo sapiens FCMD mRNA for fukutin, complete cds.BC117699 - Homo sapiens fukutin, mRNA (cDNA clone MGC:134944 IMAGE:40073633), complete cds.BC117700 - Homo sapiens fukutin, mRNA (cDNA clone MGC:134945 IMAGE:40073634), complete cds.BC101808 - Homo sapiens fukutin, mRNA (cDNA clone MGC:126857 IMAGE:8069314), complete cds.BC112038 - Homo sapiens fukutin, mRNA (cDNA clone MGC:138243 IMAGE:8327506), complete cds.KJ891153 - Synthetic construct Homo sapiens clone ccsbBroadEn_00547 FKTN gene, encodes complete protein.KR711993 - Synthetic construct Homo sapiens clone CCSBHm_00034524 FKTN (FKTN) mRNA, encodes complete protein.KR711994 - Synthetic construct Homo sapiens clone CCSBHm_00034530 FKTN (FKTN) mRNA, encodes complete protein.KR711995 - Synthetic construct Homo sapiens clone CCSBHm_00034534 FKTN (FKTN) mRNA, encodes complete protein.KR711996 - Synthetic construct Homo sapiens clone CCSBHm_00034541 FKTN (FKTN) mRNA, encodes complete protein.JD434772 - Sequence 415796 from Patent EP1572962.JD290278 - Sequence 271302 from Patent EP1572962.JD552279 - Sequence 533303 from Patent EP1572962.JD313471 - Sequence 294495 from Patent EP1572962.JD506540 - Sequence 487564 from Patent EP1572962.JD170789 - Sequence 151813 from Patent EP1572962.JD325172 - Sequence 306196 from Patent EP1572962.JD362691 - Sequence 343715 from Patent EP1572962.JD075243 - Sequence 56267 from Patent EP1572962.JD548818 - Sequence 529842 from Patent EP1572962.JD540068 - Sequence 521092 from Patent EP1572962.JD430712 - Sequence 411736 from Patent EP1572962.JD531182 - Sequence 512206 from Patent EP1572962.JD556191 - Sequence 537215 from Patent EP1572962.JD553017 - Sequence 534041 from Patent EP1572962.JD243393 - Sequence 224417 from Patent EP1572962.JD358309 - Sequence 339333 from Patent EP1572962.JD297189 - Sequence 278213 from Patent EP1572962.JD355139 - Sequence 336163 from Patent EP1572962.JD081213 - Sequence 62237 from Patent EP1572962.JD251180 - Sequence 232204 from Patent EP1572962.JD324942 - Sequence 305966 from Patent EP1572962.JD348875 - Sequence 329899 from Patent EP1572962.JD439069 - Sequence 420093 from Patent EP1572962.JD296185 - Sequence 277209 from Patent EP1572962.JD195425 - Sequence 176449 from Patent EP1572962.JD353416 - Sequence 334440 from Patent EP1572962.JD221020 - Sequence 202044 from Patent EP1572962.JD274034 - Sequence 255058 from Patent EP1572962.JD508101 - Sequence 489125 from Patent EP1572962.JD235267 - Sequence 216291 from Patent EP1572962.JD319980 - Sequence 301004 from Patent EP1572962.JD315189 - Sequence 296213 from Patent EP1572962.JD521609 - Sequence 502633 from Patent EP1572962.JD133118 - Sequence 114142 from Patent EP1572962.JD147737 - Sequence 128761 from Patent EP1572962.JD172311 - Sequence 153335 from Patent EP1572962.JD166553 - Sequence 147577 from Patent EP1572962.JD327445 - Sequence 308469 from Patent EP1572962.JD305349 - Sequence 286373 from Patent EP1572962.JD321432 - Sequence 302456 from Patent EP1572962.JD043481 - Sequence 24505 from Patent EP1572962.JD058464 - Sequence 39488 from Patent EP1572962.JD358762 - Sequence 339786 from Patent EP1572962.JD221262 - Sequence 202286 from Patent EP1572962.JD239087 - Sequence 220111 from Patent EP1572962.JD091313 - Sequence 72337 from Patent EP1572962.JD244508 - Sequence 225532 from Patent EP1572962.JD294849 - Sequence 275873 from Patent EP1572962.JD240150 - Sequence 221174 from Patent EP1572962.JD304500 - Sequence 285524 from Patent EP1572962.JD313510 - Sequence 294534 from Patent EP1572962.JD304938 - Sequence 285962 from Patent EP1572962.JD536159 - Sequence 517183 from Patent EP1572962.JD536160 - Sequence 517184 from Patent EP1572962.JD212369 - Sequence 193393 from Patent EP1572962.JD197757 - Sequence 178781 from Patent EP1572962.JD512655 - Sequence 493679 from Patent EP1572962.JD512656 - Sequence 493680 from Patent EP1572962.JD143580 - Sequence 124604 from Patent EP1572962.JD452265 - Sequence 433289 from Patent EP1572962.JD131023 - Sequence 112047 from Patent EP1572962.JD243161 - Sequence 224185 from Patent EP1572962.JD238303 - Sequence 219327 from Patent EP1572962.JD169569 - Sequence 150593 from Patent EP1572962.JD169570 - Sequence 150594 from Patent EP1572962.JD306257 - Sequence 287281 from Patent EP1572962.JD055134 - Sequence 36158 from Patent EP1572962.JD125512 - Sequence 106536 from Patent EP1572962.JD395298 - Sequence 376322 from Patent EP1572962.JD180759 - Sequence 161783 from Patent EP1572962.JD177490 - Sequence 158514 from Patent EP1572962.JD096441 - Sequence 77465 from Patent EP1572962.JD332373 - Sequence 313397 from Patent EP1572962.JD448360 - Sequence 429384 from Patent EP1572962.JD448361 - Sequence 429385 from Patent EP1572962.JD523476 - Sequence 504500 from Patent EP1572962.JD406970 - Sequence 387994 from Patent EP1572962.JD142126 - Sequence 123150 from Patent EP1572962.JD368458 - Sequence 349482 from Patent EP1572962.JD287864 - Sequence 268888 from Patent EP1572962.JD287865 - Sequence 268889 from Patent EP1572962.JD105961 - Sequence 86985 from Patent EP1572962.JD517729 - Sequence 498753 from Patent EP1572962.JD517730 - Sequence 498754 from Patent EP1572962.JD134994 - Sequence 116018 from Patent EP1572962.JD217380 - Sequence 198404 from Patent EP1572962.JD036704 - Sequence 17728 from Patent EP1572962.
Other Names for This Gene
Alternate Gene Symbols: AK304460, B4E2W4, B4E2W4_HUMANUCSC ID: uc011lvy.2RefSeq Accession: NM_006731
Protein: B4E2W4
GeneReviews for This Gene
GeneReviews article(s) related to gene FKTN:fcmd (Fukuyama Congenital Muscular Dystrophy)
Gene Model Information
category:
coding
nonsense-mediated-decay:
no
RNA accession:
AK304460.1
exon count:
7 CDS single in 3' UTR:
no
RNA size:
1152
ORF size:
816 CDS single in intron:
no
Alignment % ID:
99.91
txCdsPredict score:
1679.00 frame shift in genome:
no
% Coverage:
100.00
has start codon:
yes
stop codon in genome:
no
# of Alignments:
1
has end codon:
yes
retained intron:
yes
# AT/AC introns
0
selenocysteine:
no
end bleed into intron:
5970 # strange splices:
0
Click here
for a detailed description of the fields of the table above.
Methods, Credits, and Use Restrictions
Click here
for details on how this gene model was made and data restrictions if any.