Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

P35908 (K22E_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 129. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Keratin, type II cytoskeletal 2 epidermal
Alternative name(s):
Cytokeratin-2e
Short name=CK-2e
Epithelial keratin-2e
Keratin-2 epidermis
Keratin-2e
Short name=K2e
Type-II keratin Kb2
Gene names
Name:KRT2
Synonyms:KRT2A, KRT2E
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length639 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Probably contributes to terminal cornification. Associated with keratinocyte activation, proliferation and keratinization. Ref.1 Ref.6

Subunit structure

Heterotetramer of two type I and two type II keratins. Associates with KRT10 By similarity.

Tissue specificity

Expressed in the upper spinous and granular suprabasal layers of normal adult epidermal tissues from most body sites including thigh, breast nipple, foot sole, penile shaft and axilla. Not present in foreskin, squamous metaplasias and carcinomas. Expression in hypertrophic and keloid scars begins in the deepest suprabasal layer. Weakly expressed in normal gingiva and tongue, however expression is induced in benign keratoses of lingual mucosa and in mild-to-moderate oral dysplasia with orthokeratinization. Ref.1 Ref.5 Ref.6

Developmental stage

Synthesized during maturation of epidermal keratinocytes and localized in the upper intermediate cells of fetal skin. Earliest expression is at 10 weeks in the developing embryo in the presumptive nail bed of developing digits, shifting to the proximal nail fold by 13.5 weeks. At 12.5 weeks, detected in scattered cells of the intermediate layer of trunk skin. At 19.3 weeks, regional expression patterns were observed in upper intermediate keratinocytes of cheek, trunk, dorsal and ventral knee, elbow and dorsal hand. Distal areas around the periumbilical region showed increased number of positive cells and by 15 weeks is expressed in small groups of cells in the fetal hair follicles. Ref.1 Ref.5

Involvement in disease

Ichthyosis bullosa of Siemens (IBS) [MIM:146800]: A rare autosomal dominant skin disorder displaying a type of epidermolytic hyperkeratosis characterized by generalized erythema and extensive blistering from birth. Large, dark gray hyperkeratoses are observed in later weeks. The skin of IBS patients is unusually fragile and has a tendency to shed the outer layers of the epidermis, producing localized denuded areas (molting effect). IBS usually improves with age so that in most middle-aged patients the hyperkeratosis and keratotic lichenification is limited to the flexural folds of the major joints.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.2 Ref.9 Ref.10 Ref.11 Ref.12 Ref.13 Ref.14 Ref.15 Ref.16 Ref.17 Ref.18 Ref.19 Ref.20 Ref.21 Ref.22

Miscellaneous

There are two types of cytoskeletal and microfibrillar keratin: I (acidic; 40-55 kDa) and II (neutral to basic; 56-70 kDa).

Sequence similarities

Belongs to the intermediate filament family.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 639639Keratin, type II cytoskeletal 2 epidermal
PRO_0000063715

Regions

Region1 – 177177Head
Region178 – 487310Rod
Region178 – 21336Coil 1A
Region214 – 23219Linker 1
Region233 – 32492Coil 1B
Region325 – 34824Linker 12
Region349 – 487139Coil 2
Region488 – 639152Tail

Sites

Site4291Stutter

Amino acid modifications

Modified residue621Phosphoserine Ref.7

Natural variations

Natural variant1011S → G. Ref.1 Ref.2
Corresponds to variant rs2634041 [ dbSNP | Ensembl ].
VAR_058293
Natural variant1811Q → P in IBS. Ref.10
VAR_003865
Natural variant1821I → N in IBS. Ref.16
Corresponds to variant rs61622714 [ dbSNP | Ensembl ].
VAR_010514
Natural variant1861N → D in IBS. Ref.20
VAR_010515
Natural variant1861N → K in IBS. Ref.21
Corresponds to variant rs61726457 [ dbSNP | Ensembl ].
VAR_017829
Natural variant1861N → Y in IBS. Ref.2
Corresponds to variant rs61726454 [ dbSNP | Ensembl ].
VAR_009185
Natural variant2191G → D.
Corresponds to variant rs638043 [ dbSNP | Ensembl ].
VAR_058294
Natural variant4651E → D in IBS. Ref.19
VAR_031082
Natural variant4651E → K in IBS. Ref.19
VAR_031083
Natural variant4761E → K in IBS. Ref.2
Corresponds to variant rs56829062 [ dbSNP | Ensembl ].
VAR_009186
Natural variant4761E → V in IBS. Ref.17
Corresponds to variant rs60537449 [ dbSNP | Ensembl ].
VAR_031084
Natural variant4771I → N in IBS. Ref.18
VAR_031085
Natural variant4791T → P in IBS. Ref.13
Corresponds to variant rs61726453 [ dbSNP | Ensembl ].
VAR_009187
Natural variant4841L → P in IBS. Ref.10 Ref.22
Corresponds to variant rs61726451 [ dbSNP | Ensembl ].
VAR_010516
Natural variant4871E → D in IBS. Ref.11
Corresponds to variant rs61726450 [ dbSNP | Ensembl ].
VAR_003866
Natural variant4871E → K in IBS. Ref.9 Ref.10 Ref.11 Ref.12 Ref.14 Ref.15 Ref.22
Corresponds to variant rs61726449 [ dbSNP | Ensembl ].
VAR_003867
Natural variant4881E → K in IBS. Ref.12
Corresponds to variant rs61726452 [ dbSNP | Ensembl ].
VAR_031086

Experimental info

Sequence conflict1081F → FGGGSGF in AAC83410. Ref.1
Sequence conflict1081F → FGGGSGF in AAB81946. Ref.2

Sequences

Sequence LengthMass (Da)Tools
P35908 [UniParc].

Last modified June 16, 2009. Version 2.
Checksum: B80526BAF70078A7

FASTA63965,433
        10         20         30         40         50         60 
MSCQISCKSR GRGGGGGGFR GFSSGSAVVS GGSRRSTSSF SCLSRHGGGG GGFGGGGFGS 

        70         80         90        100        110        120 
RSLVGLGGTK SISISVAGGG GGFGAAGGFG GRGGGFGGGS SFGGGSGFSG GGFGGGGFGG 

       130        140        150        160        170        180 
GRFGGFGGPG GVGGLGGPGG FGPGGYPGGI HEVSVNQSLL QPLNVKVDPE IQNVKAQERE 

       190        200        210        220        230        240 
QIKTLNNKFA SFIDKVRFLE QQNQVLQTKW ELLQQMNVGT RPINLEPIFQ GYIDSLKRYL 

       250        260        270        280        290        300 
DGLTAERTSQ NSELNNMQDL VEDYKKKYED EINKRTAAEN DFVTLKKDVD NAYMIKVELQ 

       310        320        330        340        350        360 
SKVDLLNQEI EFLKVLYDAE ISQIHQSVTD TNVILSMDNS RNLDLDSIIA EVKAQYEEIA 

       370        380        390        400        410        420 
QRSKEEAEAL YHSKYEELQV TVGRHGDSLK EIKIEISELN RVIQRLQGEI AHVKKQCKNV 

       430        440        450        460        470        480 
QDAIADAEQR GEHALKDARN KLNDLEEALQ QAKEDLARLL RDYQELMNVK LALDVEIATY 

       490        500        510        520        530        540 
RKLLEGEECR MSGDLSSNVT VSVTSSTISS NVASKAAFGG SGGRGSSSGG GYSSGSSSYG 

       550        560        570        580        590        600 
SGGRQSGSRG GSGGGGSISG GGYGSGGGSG GRYGSGGGSK GGSISGGGYG SGGGKHSSGG 

       610        620        630 
GSRGGSSSGG GYGSGGGGSS SVKGSSGEAF GSSVTFSFR 

« Hide

References

« Hide 'large scale' references
[1]"Characterization of human cytokeratin 2, an epidermal cytoskeletal protein synthesized late during differentiation."
Collin C., Moll R., Kubicka S., Ouhayoun J.-P., Franke W.W.
Exp. Cell Res. 202:132-141(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE, VARIANT GLY-101.
Tissue: Thigh epidermis.
[2]"Genomic organization and fine mapping of the keratin 2e gene (KRT2E): K2e V1 domain polymorphism and novel mutations in ichthyosis bullosa of Siemens."
Smith F.J.D., Maingi C., Covello S.P., Higgins C., Schmidt M., Lane E.B., Uitto J., Leigh I.M., McLean W.H.I.
J. Invest. Dermatol. 111:817-821(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS IBS TYR-186 AND LYS-476, VARIANT GLY-101.
[3]"The finished DNA sequence of human chromosome 12."
Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R. expand/collapse author list , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[5]"Ontogeny and regional variability of keratin 2e (K2e) in developing human fetal skin: a unique spatial and temporal pattern of keratin expression in development."
Smith L.T., Underwood R.A., McLean W.H.I.
Br. J. Dermatol. 140:582-591(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: TISSUE SPECIFICITY, DEVELOPMENTAL STAGE.
[6]"Expression of keratin K2e in cutaneous and oral lesions: association with keratinocyte activation, proliferation, and keratinization."
Bloor B.K., Tidman N., Leigh I.M., Odell E., Dogan B., Wollina U., Ghali L., Waseem A.
Am. J. Pathol. 162:963-975(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, TISSUE SPECIFICITY.
[7]"Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M.
Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-62, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[8]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[9]"Ichthyosis bullosa of Siemens -- a disease involving keratin 2e."
McLean W.H.I., Morley S.M., Lane E.B., Eady R.A.J., Griffiths W.A.D., Paige D.G., Harper J.I., Higgins C., Leigh I.M.
J. Invest. Dermatol. 103:277-281(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT IBS LYS-487.
[10]"Ichthyosis bullosa of Siemens is caused by mutations in the keratin 2e gene."
Kremer H., Zeeuwen P., McLean W.H.I., Mariman E.C.M., Lane E.B., van de Kerkhof P.C.M., Ropers H.-H., Steijlen P.M.
J. Invest. Dermatol. 103:286-289(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS IBS PRO-181; PRO-484 AND LYS-487.
[11]"Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens."
Rothnagel J.A., Traupe H., Wojcik S., Huber M., Hohl D., Pittelkow M.R., Saeki H., Ishibashi Y., Roop D.R.
Nat. Genet. 7:485-490(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS IBS ASP-487 AND LYS-487.
[12]"A new keratin 2e mutation in ichthyosis bullosa of Siemens."
Jones D.O., Watts C., Mills C., Sharpe G., Marks R., Bowden P.E.
J. Invest. Dermatol. 108:354-356(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS IBS LYS-487 AND LYS-488.
[13]"A novel threonine-to-proline mutation at the end of 2B rod domain in the keratin 2e chain in ichthyosis bullosa of Siemens."
Yang J.-M., Lee S., Bang H.-D., Kim W.-S., Lee E.-S., Steinert P.M.
J. Invest. Dermatol. 109:116-118(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT IBS PRO-479.
[14]"A glutamate to lysine mutation at the end of 2B rod domain of keratin 2e gene in ichthyosis bullosa of Siemens."
Yang J.-M., Lee E.-S., Kang H.-J., Choi G.-S., Yoneda K., Jung S.-Y., Park K.-B., Steinert P.M., Lee E.-S.
Acta Derm. Venereol. 78:417-419(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT IBS LYS-487.
[15]"Ichthyosis bullosa of Siemens: report of a family with evidence of a keratin 2e mutation, and a review of the literature."
Basarab T., Smith F.J., Jolliffe V.M., McLean W.H.I., Neill S., Rustin M.H., Eady R.A.
Br. J. Dermatol. 140:689-695(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT IBS LYS-487.
[16]"A novel mutation in the 1A domain of keratin 2e in ichthyosis bullosa of Siemens."
Arin M.J., Longley M.A., Epstein E.H. Jr., Scott G., Goldsmith L.A., Rothnagel J.A., Roop D.R.
J. Invest. Dermatol. 112:380-382(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT IBS ASN-182.
[17]"Ichthyosis bullosa of Siemens resulting from a novel missense mutation near the helix termination motif of the keratin 2e gene."
Moraru R., Cserhalmi-Friedman P.B., Grossman M.E., Schneiderman P., Christiano A.M.
Clin. Exp. Dermatol. 24:412-415(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT IBS VAL-476.
[18]"A novel mutation in the 2B domain of keratin 2e causing ichthyosis bullosa of Siemens."
Irvine A.D., Smith F.J., Shum K.W., Williams H.C., McLean W.H.I.
Clin. Exp. Dermatol. 25:648-651(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT IBS ASN-477.
[19]"Hot spot mutations in keratin 2e suggest a correlation between genotype and phenotype in patients with ichthyosis bullosa of Siemens."
Suga Y., Arin M.J., Scott G., Goldsmith L.A., Magro C.M., Baden L.A., Baden H.P., Roop D.R.
Exp. Dermatol. 9:11-15(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS IBS LYS-465 AND ASP-465.
[20]"A novel asparagine-->aspartic acid mutation in the rod 1A domain in keratin 2e in a Japanese family with ichthyosis bullosa of Siemens."
Takizawa Y., Akiyama M., Nagashima M., Shimizu H.
J. Invest. Dermatol. 114:193-195(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT IBS ASP-186.
[21]"New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens."
Whittock N.V., Ashton G.H.S., Griffiths W.A.D., Eady R.A.J., McGrath J.A.
Br. J. Dermatol. 145:330-335(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT IBS LYS-186.
[22]"Ichthyosis bullosa of Siemens: its correct diagnosis facilitated by molecular genetic testing."
Akiyama M., Tsuji-Abe Y., Yanagihara M., Nakajima K., Kodama H., Yaosaka M., Abe M., Sawamura D., Shimizu H.
Br. J. Dermatol. 152:1353-1356(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS IBS PRO-484 AND LYS-487.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
M99061 mRNA. Translation: AAC83410.1.
AF019084 Genomic DNA. Translation: AAB81946.1.
AC055715 Genomic DNA. No translation available.
AC055716 Genomic DNA. No translation available.
BC096294 mRNA. Translation: AAH96294.1.
BC099643 mRNA. Translation: AAH99643.1.
BC099644 mRNA. Translation: AAH99644.1.
PIRA44861.
RefSeqNP_000414.2. NM_000423.2.
UniGeneHs.707.

3D structure databases

ProteinModelPortalP35908.
SMRP35908. Positions 177-317, 344-486.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid110047. 35 interactions.
IntActP35908. 8 interactions.
MINTMINT-1208580.
STRING9606.ENSP00000310861.

PTM databases

PhosphoSiteP35908.

Polymorphism databases

DMDM239938650.

Proteomic databases

PaxDbP35908.
PeptideAtlasP35908.
PRIDEP35908.
ProMEXP35908.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000309680; ENSP00000310861; ENSG00000172867.
GeneID3849.
KEGGhsa:3849.
UCSCuc001sat.3. human.

Organism-specific databases

CTD3849.
GeneCardsGC12M053038.
H-InvDBHIX0036877.
HGNCHGNC:6439. KRT2.
HPACAB037321.
MIM146800. phenotype.
600194. gene.
neXtProtNX_P35908.
Orphanet455. Superficial epidermolytic ichthyosis.
PharmGKBPA30227.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG146769.
HOGENOMHOG000230976.
HOVERGENHBG013015.
InParanoidP35908.
KOK07605.
OMATNLDPIF.
OrthoDBEOG7FV3Q8.
PhylomeDBP35908.
TreeFamTF317854.

Gene expression databases

BgeeP35908.
CleanExHS_KRT2.
GenevestigatorP35908.

Family and domain databases

InterProIPR001664. IF.
IPR018039. Intermediate_filament_CS.
IPR003054. Keratin_II.
[Graphical view]
PANTHERPTHR23239. PTHR23239. 1 hit.
PfamPF00038. Filament. 1 hit.
[Graphical view]
PRINTSPR01276. TYPE2KERATIN.
PROSITEPS00226. IF. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiKeratin_2A.
GenomeRNAi3849.
NextBio15145.
PROP35908.
SOURCESearch...

Entry information

Entry nameK22E_HUMAN
AccessionPrimary (citable) accession number: P35908
Secondary accession number(s): Q4VAQ2
Entry history
Integrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: June 16, 2009
Last modified: April 16, 2014
This is version 129 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 12

Human chromosome 12: entries, gene names and cross-references to MIM