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Q9BSQ5 (CCM2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 109. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Malcavernin
Alternative name(s):
Cerebral cavernous malformations 2 protein
Gene names
Name:CCM2
Synonyms:C7orf22
ORF Names:PP10187
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length444 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Component of the CCM signaling pathway which is a crucial regulator of heart and vessel formation and integrity. May act through the stabilization of endothelial cell junctions By similarity. May function as a scaffold protein for MAP2K3-MAP3K3 signaling. Seems to play a major role in the modulation of MAP3K3-dependent p38 activation induced by hyperosmotic shock By similarity.

Subunit structure

Part of a complex with MAP2K3, MAP3K3 and RAC1. Binds RAC1 directly and independently of its nucleotide-bound state By similarity. Interacts with HEG1 and KRIT1; KRIT1 greatly facilitates the interaction with HEG1 By similarity. Interacts with PDCD10. Ref.8 Ref.9

Subcellular location

Cytoplasm By similarity.

Domain

The C-terminal region constitutes an independently folded domain that has structural similarity with the USH1C (harmonin) N-terminus, despite very low sequence similarity. Ref.9

Involvement in disease

Cerebral cavernous malformations 2 (CCM2) [MIM:603284]: A congenital vascular anomaly of the central nervous system that can result in hemorrhagic stroke, seizures, recurrent headaches, and focal neurologic deficits. The lesions are characterized by grossly enlarged blood vessels consisting of a single layer of endothelium and without any intervening neural tissue, ranging in diameter from a few millimeters to several centimeters.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7 Ref.10 Ref.11

Sequence similarities

Belongs to the CCM2 family.

Contains 1 PID domain.

Ontologies

Keywords
   Cellular componentCytoplasm
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseDisease mutation
   Molecular functionDevelopmental protein
   Technical term3D-structure
Complete proteome
Direct protein sequencing
Reference proteome
Gene Ontology (GO)
   Biological_processblood vessel endothelial cell differentiation

Inferred from electronic annotation. Source: Ensembl

cell-cell junction organization

Inferred from electronic annotation. Source: Ensembl

endothelial cell development

Inferred from electronic annotation. Source: Ensembl

endothelial tube morphogenesis

Inferred from mutant phenotype PubMed 19151727. Source: MGI

in utero embryonic development

Inferred from electronic annotation. Source: Ensembl

inner ear development

Inferred from electronic annotation. Source: Ensembl

integrin-mediated signaling pathway

Traceable author statement PubMed 16037064. Source: UniProtKB

multicellular organism growth

Inferred from electronic annotation. Source: Ensembl

pericardium development

Inferred from electronic annotation. Source: Ensembl

stress-activated MAPK cascade

Traceable author statement PubMed 16037064. Source: UniProtKB

vasculogenesis

Inferred from mutant phenotype Ref.10. Source: UniProtKB

venous blood vessel morphogenesis

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentcytoplasm

Inferred from direct assay PubMed 16037064. Source: UniProtKB

protein complex

Inferred from electronic annotation. Source: Ensembl

   Molecular_functionprotein binding

Inferred from physical interaction PubMed 16037064Ref.8. Source: UniProtKB

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

KRIT1O005223EBI-1573056,EBI-1573121
PDCD10Q9BUL85EBI-1573056,EBI-740195

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9BSQ5-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q9BSQ5-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-10: MEEEGKKGKK → MHSSCRQRRNQNLSKEIPQTEFHTGYSMENE
Isoform 3 (identifier: Q9BSQ5-3)

The sequence of this isoform differs from the canonical sequence as follows:
     158-248: Missing.
Note: Gene prediction based on EST data.
Isoform 4 (identifier: Q9BSQ5-4)

The sequence of this isoform differs from the canonical sequence as follows:
     11-68: Missing.
Note: Gene prediction based on EST data.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 444444Malcavernin
PRO_0000089424

Regions

Domain59 – 248190PID
Region283 – 37694Harmonin homology domain

Natural variations

Alternative sequence1 – 1010MEEEGKKGKK → MHSSCRQRRNQNLSKEIPQT EFHTGYSMENE in isoform 2.
VSP_024402
Alternative sequence11 – 6858Missing in isoform 4.
VSP_046695
Alternative sequence158 – 24891Missing in isoform 3.
VSP_046696
Natural variant531V → I. Ref.10
Corresponds to variant rs2107732 [ dbSNP | Ensembl ].
VAR_023575
Natural variant1201V → I. Ref.10
Corresponds to variant rs11552377 [ dbSNP | Ensembl ].
VAR_023576
Natural variant1981L → R in CCM2. Ref.10
VAR_023577
Natural variant2151Q → H in CCM2; associated with Q-229. Ref.11
VAR_067352
Natural variant2291L → Q in CCM2; associated with H-215. Ref.11
VAR_067353
Natural variant2891S → N.
Corresponds to variant rs2289366 [ dbSNP | Ensembl ].
VAR_050768

Experimental info

Sequence conflict2681F → C in BAG53562. Ref.1
Sequence conflict4401D → A in AAQ15228. Ref.2
Sequence conflict4441A → ALWTVDGGAPTPSAQLS in AAQ15228. Ref.2

Secondary structure

.............. 444
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified June 1, 2001. Version 1.
Checksum: 43F9C153B4DE460E

FASTA44448,837
        10         20         30         40         50         60 
MEEEGKKGKK PGIVSPFKRV FLKGEKSRDK KAHEKVTERR PLHTVVLSLP ERVEPDRLLS 

        70         80         90        100        110        120 
DYIEKEVKYL GQLTSIPGYL NPSSRTEILH FIDNAKRAHQ LPGHLTQEHD AVLSLSAYNV 

       130        140        150        160        170        180 
KLAWRDGEDI ILRVPIHDIA AVSYVRDDAA HLVVLKTAQD PGISPSQSLC AESSRGLSAG 

       190        200        210        220        230        240 
SLSESAVGPV EACCLVILAA ESKVAAEELC CLLGQVFQVV YTESTIDFLD RAIFDGASTP 

       250        260        270        280        290        300 
THHLSLHSDD SSTKVDIKET YEVEASTFCF PESVDVGGAS PHSKTISESE LSASATELLQ 

       310        320        330        340        350        360 
DYMLTLRTKL SSQEIQQFAA LLHEYRNGAS IHEFCINLRQ LYGDSRKFLL LGLRPFIPEK 

       370        380        390        400        410        420 
DSQHFENFLE TIGVKDGRGI ITDSFGRHRR ALSTTSSSTT NGNRATGSSD DRSAPSEGDE 

       430        440 
WDRMISDISS DIEALGCSMD QDSA 

« Hide

Isoform 2 [UniParc].

Checksum: DA0E03C39B7DABE3
Show »

FASTA46551,413
Isoform 3 [UniParc].

Checksum: DC6158E93D3376CE
Show »

FASTA35339,460
Isoform 4 [UniParc].

Checksum: F1BA46DBF72FF047
Show »

FASTA38642,073

References

« Hide 'large scale' references
[1]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Thymus.
[2]"Large-scale cDNA transfection screening for genes related to cancer development and progression."
Wan D., Gong Y., Qin W., Zhang P., Li J., Wei L., Zhou X., Li H., Qiu X., Zhong F., He L., Yu J., Yao G., Jiang H., Qian L., Yu Y., Shu H., Chen X. expand/collapse author list , Xu H., Guo M., Pan Z., Chen Y., Ge C., Yang S., Gu J.
Proc. Natl. Acad. Sci. U.S.A. 101:15724-15729(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[3]"The DNA sequence of human chromosome 7."
Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L. expand/collapse author list , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"Human chromosome 7: DNA sequence and biology."
Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R., Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A., Kanematsu E., Gentles S. expand/collapse author list , Christopoulos C.C., Choufani S., Kwasnicka D., Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H., Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J., Adams M.D., Tsui L.-C.
Science 300:767-772(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"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] (ISOFORM 1).
Tissue: Brain and Kidney.
[7]"Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations."
Liquori C.L., Berg M.J., Siegel A.M., Huang E., Zawistowski J.S., Stoffer T., Verlaan D., Balogun F., Hughes L., Leedom T.P., Plummer N.W., Cannella M., Maglione V., Squitieri F., Johnson E.W., Rouleau G.A., Ptacek L., Marchuk D.A.
Am. J. Hum. Genet. 73:1459-1464(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN CCM2.
[8]"Crystal structure of CCM3, a cerebral cavernous malformation protein critical for vascular integrity."
Li X., Zhang R., Zhang H., He Y., Ji W., Min W., Boggon T.J.
J. Biol. Chem. 285:24099-24107(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH PDCD10.
[9]"Structural studies of cerebral cavernous malformations 2 (CCM2) reveal a folded helical domain at its C-terminus."
Fisher O.S., Zhang R., Li X., Murphy J.W., Demeler B., Boggon T.J.
FEBS Lett. 587:272-277(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: X-RAY CRYSTALLOGRAPHY (1.9 ANGSTROMS) OF 283-379, PARTIAL PROTEIN SEQUENCE, DOMAIN, INTERACTION WITH PDCD10.
[10]"Mutations within the MGC4607 gene cause cerebral cavernous malformations."
Denier C., Goutagny S., Labauge P., Krivosic V., Arnoult M., Cousin A., Benabid A.L., Comoy J., Frerebeau P., Gilbert B., Houtteville J.P., Jan M., Lapierre F., Loiseau H., Menei P., Mercier P., Moreau J.J., Nivelon-Chevallier A. expand/collapse author list , Parker F., Redondo A.M., Scarabin J.M., Tremoulet M., Zerah M., Maciazek J., Tournier-Lasserve E.
Am. J. Hum. Genet. 74:326-337(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CCM2 ARG-198, VARIANTS ILE-53 AND ILE-120.
[11]"De Novo MGC4607 gene heterozygous missense variants in a child with multiple cerebral cavernous malformations."
Mosca L., Pileggi S., Avemaria F., Tarlarini C., Cigoli M.S., Capra V., De Marco P., Pavanello M., Marocchi A., Penco S.
J. Mol. Neurosci. 47:475-480(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CCM2 HIS-215 AND GLN-229.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK098005 mRNA. Translation: BAG53562.1.
AF370392 mRNA. Translation: AAQ15228.1.
AC004847 Genomic DNA. No translation available.
AC013416 Genomic DNA. No translation available.
CH236960 Genomic DNA. Translation: EAL23746.1.
CH471128 Genomic DNA. Translation: EAW61061.1.
CH471128 Genomic DNA. Translation: EAW61064.1.
BC004903 mRNA. Translation: AAH04903.1.
BC008859 mRNA. Translation: AAH08859.1.
BC016832 mRNA. Translation: AAH16832.1.
BC025958 mRNA. Translation: AAH25958.1.
CCDSCCDS34630.1. [Q9BSQ5-2]
CCDS5500.1. [Q9BSQ5-1]
CCDS55108.1. [Q9BSQ5-3]
CCDS55109.1. [Q9BSQ5-4]
RefSeqNP_001025006.1. NM_001029835.2. [Q9BSQ5-2]
NP_001161406.1. NM_001167934.1. [Q9BSQ5-4]
NP_001161407.1. NM_001167935.1. [Q9BSQ5-3]
NP_113631.1. NM_031443.3. [Q9BSQ5-1]
UniGeneHs.148272.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
4FQNX-ray1.90A/B/C/D283-379[»]
ProteinModelPortalQ9BSQ5.
SMRQ9BSQ5. Positions 283-376.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid123696. 4 interactions.
IntActQ9BSQ5. 4 interactions.
MINTMINT-8404420.
STRING9606.ENSP00000370503.

PTM databases

PhosphoSiteQ9BSQ5.

Polymorphism databases

DMDM74733042.

Proteomic databases

MaxQBQ9BSQ5.
PaxDbQ9BSQ5.
PRIDEQ9BSQ5.

Protocols and materials databases

DNASU83605.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000258781; ENSP00000258781; ENSG00000136280. [Q9BSQ5-1]
ENST00000381112; ENSP00000370503; ENSG00000136280. [Q9BSQ5-2]
ENST00000541586; ENSP00000444725; ENSG00000136280. [Q9BSQ5-4]
ENST00000544363; ENSP00000438035; ENSG00000136280. [Q9BSQ5-3]
GeneID83605.
KEGGhsa:83605.
UCSCuc003tmo.3. human. [Q9BSQ5-1]

Organism-specific databases

CTD83605.
GeneCardsGC07P045039.
GeneReviewsCCM2.
HGNCHGNC:21708. CCM2.
HPAHPA020273.
HPA021669.
MIM603284. phenotype.
607929. gene.
neXtProtNX_Q9BSQ5.
Orphanet221061. Hereditary cerebral cavernous malformation.
PharmGKBPA26145.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG39125.
HOGENOMHOG000231916.
HOVERGENHBG054451.
OMADSFGRHR.
OrthoDBEOG7SFHXM.
PhylomeDBQ9BSQ5.
TreeFamTF328517.

Gene expression databases

ArrayExpressQ9BSQ5.
BgeeQ9BSQ5.
CleanExHS_CCM2.
GenevestigatorQ9BSQ5.

Family and domain databases

Gene3D2.30.29.30. 1 hit.
InterProIPR026159. Malcavernin.
IPR011993. PH_like_dom.
IPR006020. PTB/PI_dom.
[Graphical view]
PANTHERPTHR21642. PTHR21642. 1 hit.
PROSITEPS01179. PID. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiCCM2.
GenomeRNAi83605.
NextBio35470159.
PROQ9BSQ5.
SOURCESearch...

Entry information

Entry nameCCM2_HUMAN
AccessionPrimary (citable) accession number: Q9BSQ5
Secondary accession number(s): A4D2L4 expand/collapse secondary AC list , B3KUV0, D3DVL4, E9PDJ3, F5H0E1, F5H551, Q71RE5, Q8TAT4
Entry history
Integrated into UniProtKB/Swiss-Prot: October 11, 2005
Last sequence update: June 1, 2001
Last modified: July 9, 2014
This is version 109 of the entry and version 1 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

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

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 7

Human chromosome 7: entries, gene names and cross-references to MIM