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Q9UHC6 (CNTP2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 138. 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·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Contactin-associated protein-like 2
Alternative name(s):
Cell recognition molecule Caspr2
Gene names
Name:CNTNAP2
Synonyms:CASPR2, KIAA0868
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1331 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

May play a role in the formation of functional distinct domains critical for saltatory conduction of nerve impulses in myelinated nerve fibers. Seems to demarcate the juxtaparanodal region of the axo-glial junction.

Subunit structure

Associates with KCNA2 By similarity.

Subcellular location

Membrane; Single-pass type I membrane protein Potential.

Tissue specificity

Predominantly expressed in nervous system.

Involvement in disease

Cortical dysplasia-focal epilepsy syndrome (CDFES) [MIM:610042]: A disease characterized by cortical dysplasia, focal epilepsy, relative macrocephaly, and diminished deep-tendon reflexes. Intractable focal seizures begin in early childhood, after which language regression, hyperactivity, impulsive and aggressive behavior, and mental retardation develop.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7

Autism 15 (AUTS15) [MIM:612100]: A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate mental retardation.
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.

A chromosomal aberration involving CNTNAP2 is found in a patient with autism spectrum disorder. Paracentric inversion 46,XY,inv7(q11.22;q35). The inversion breakpoints disrupt the genes AUTS2 and CNTNAP2.

Sequence similarities

Belongs to the neurexin family.

Contains 2 EGF-like domains.

Contains 1 F5/8 type C domain.

Contains 1 fibrinogen C-terminal domain.

Contains 4 laminin G-like domains.

Sequence caution

The sequence BAA74891.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
   Biological processCell adhesion
   Cellular componentMembrane
   Coding sequence diversityAlternative splicing
Chromosomal rearrangement
Polymorphism
   DiseaseEpilepsy
   DomainEGF-like domain
Repeat
Signal
Transmembrane
Transmembrane helix
   PTMDisulfide bond
Glycoprotein
Phosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processadult behavior

Inferred from mutant phenotype PubMed 18179893. Source: BHF-UCL

brain development

Traceable author statement Ref.1. Source: BHF-UCL

cell adhesion

Inferred from electronic annotation. Source: UniProtKB-KW

cellular protein localization

Inferred from sequence or structural similarity. Source: BHF-UCL

cerebral cortex development

Inferred from expression pattern PubMed 18179893PubMed 18987363. Source: BHF-UCL

clustering of voltage-gated potassium channels

Inferred from sequence or structural similarity. Source: BHF-UCL

learning

Inferred from mutant phenotype PubMed 18179893PubMed 19896112. Source: BHF-UCL

limbic system development

Inferred from expression pattern Ref.9. Source: BHF-UCL

neuron projection development

Inferred from sequence or structural similarity. Source: BHF-UCL

neuron recognition

Non-traceable author statement Ref.1. Source: UniProtKB

protein localization to juxtaparanode region of axon

Inferred from sequence or structural similarity. Source: BHF-UCL

social behavior

Inferred from mutant phenotype PubMed 18179893PubMed 19896112. Source: BHF-UCL

striatum development

Inferred from expression pattern PubMed 18179893. Source: BHF-UCL

superior temporal gyrus development

Inferred from expression pattern PubMed 18179893. Source: BHF-UCL

thalamus development

Inferred from expression pattern PubMed 18179893. Source: BHF-UCL

transmission of nerve impulse

Non-traceable author statement Ref.2. Source: UniProtKB

vocalization behavior

Inferred from mutant phenotype PubMed 18179893PubMed 19896112. Source: BHF-UCL

   Cellular_componentGolgi apparatus

Inferred from direct assay PubMed 19166515. Source: BHF-UCL

axolemma

Inferred from direct assay PubMed 19706678. Source: BHF-UCL

axon

Inferred from sequence or structural similarity. Source: BHF-UCL

cell surface

Inferred from direct assay PubMed 19706678. Source: BHF-UCL

dendrite

Inferred from sequence or structural similarity. Source: BHF-UCL

early endosome

Inferred from direct assay PubMed 19706678. Source: BHF-UCL

integral component of membrane

Non-traceable author statement Ref.2. Source: UniProtKB

juxtaparanode region of axon

Inferred from sequence or structural similarity. Source: BHF-UCL

membrane

Inferred from direct assay Ref.1. Source: BHF-UCL

neuronal cell body

Inferred from sequence or structural similarity. Source: BHF-UCL

perikaryon

Inferred from sequence or structural similarity. Source: BHF-UCL

voltage-gated potassium channel complex

Inferred from direct assay Ref.1. Source: BHF-UCL

   Molecular_functionenzyme binding

Inferred from physical interaction PubMed 19166515. Source: BHF-UCL

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9UHC6-1)

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: Q9UHC6-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-1223: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2727 Potential
Chain28 – 13311304Contactin-associated protein-like 2
PRO_0000019506

Regions

Topological domain28 – 12621235Extracellular Potential
Transmembrane1263 – 128321Helical; Potential
Topological domain1284 – 133148Cytoplasmic Potential
Domain35 – 181147F5/8 type C
Domain216 – 368153Laminin G-like 1
Domain401 – 552152Laminin G-like 2
Domain554 – 59138EGF-like 1
Domain592 – 798207Fibrinogen C-terminal
Domain799 – 963165Laminin G-like 3
Domain963 – 100240EGF-like 2
Domain1055 – 1214160Laminin G-like 4

Amino acid modifications

Modified residue5891Phosphothreonine Ref.8
Modified residue5951Phosphotyrosine Ref.8
Glycosylation2891N-linked (GlcNAc...) Potential
Glycosylation3461N-linked (GlcNAc...) Potential
Glycosylation3631N-linked (GlcNAc...) Potential
Glycosylation3791N-linked (GlcNAc...) Potential
Glycosylation4361N-linked (GlcNAc...) Potential
Glycosylation5061N-linked (GlcNAc...) Potential
Glycosylation5071N-linked (GlcNAc...) Potential
Glycosylation5461N-linked (GlcNAc...) Potential
Glycosylation6301N-linked (GlcNAc...) Potential
Glycosylation7351N-linked (GlcNAc...) Potential
Glycosylation11161N-linked (GlcNAc...) Potential
Glycosylation11981N-linked (GlcNAc...) Potential
Disulfide bond35 ↔ 181 By similarity
Disulfide bond336 ↔ 368 By similarity
Disulfide bond520 ↔ 552 By similarity
Disulfide bond558 ↔ 569 By similarity
Disulfide bond563 ↔ 578 By similarity
Disulfide bond580 ↔ 590 By similarity
Disulfide bond936 ↔ 963 By similarity
Disulfide bond967 ↔ 980 By similarity
Disulfide bond974 ↔ 989 By similarity
Disulfide bond991 ↔ 1001 By similarity
Disulfide bond1178 ↔ 1214 By similarity

Natural variations

Alternative sequence1 – 12231223Missing in isoform 2.
VSP_014976
Natural variant1141R → Q. Ref.9
Corresponds to variant rs189731792 [ dbSNP | Ensembl ].
VAR_046227
Natural variant2181T → M. Ref.9
VAR_046228
Natural variant2261L → M. Ref.9
VAR_046229
Natural variant2831R → C. Ref.9
VAR_046230
Natural variant3821S → N. Ref.9
VAR_046231
Natural variant4071N → S. Ref.9
Corresponds to variant rs143877693 [ dbSNP | Ensembl ].
VAR_046232
Natural variant4181N → D. Ref.9
VAR_046233
Natural variant6801E → K. Ref.9
VAR_046234
Natural variant6991P → Q. Ref.9
VAR_046235
Natural variant7161Y → C. Ref.9
VAR_046236
Natural variant7311G → S. Ref.9
VAR_046237
Natural variant7791G → D. Ref.9
Corresponds to variant rs200413148 [ dbSNP | Ensembl ].
VAR_046238
Natural variant8691I → T Associated with susceptibility to autism. Ref.9
VAR_046239
Natural variant9061R → H. Ref.9
VAR_046240
Natural variant10381D → N. Ref.9
VAR_046241
Natural variant11021V → A. Ref.9
Corresponds to variant rs111599875 [ dbSNP | Ensembl ].
VAR_046242
Natural variant11141S → G. Ref.9
VAR_046243
Natural variant11191R → H. Ref.9
VAR_046244
Natural variant11291D → H. Ref.9
VAR_046245
Natural variant12271A → T. Ref.9
VAR_046246
Natural variant12531I → T. Ref.9
VAR_046247
Natural variant12781T → I. Ref.9
VAR_046248

Sequences

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

Last modified May 1, 2000. Version 1.
Checksum: CFB2CB55BEFB99C2

FASTA1,331148,167
        10         20         30         40         50         60 
MQAAPRAGCG AALLLWIVSS CLCRAWTAPS TSQKCDEPLV SGLPHVAFSS SSSISGSYSP 

        70         80         90        100        110        120 
GYAKINKRGG AGGWSPSDSD HYQWLQVDFG NRKQISAIAT QGRYSSSDWV TQYRMLYSDT 

       130        140        150        160        170        180 
GRNWKPYHQD GNIWAFPGNI NSDGVVRHEL QHPIIARYVR IVPLDWNGEG RIGLRIEVYG 

       190        200        210        220        230        240 
CSYWADVINF DGHVVLPYRF RNKKMKTLKD VIALNFKTSE SEGVILHGEG QQGDYITLEL 

       250        260        270        280        290        300 
KKAKLVLSLN LGSNQLGPIY GHTSVMTGSL LDDHHWHSVV IERQGRSINL TLDRSMQHFR 

       310        320        330        340        350        360 
TNGEFDYLDL DYEITFGGIP FSGKPSSSSR KNFKGCMESI NYNGVNITDL ARRKKLEPSN 

       370        380        390        400        410        420 
VGNLSFSCVE PYTVPVFFNA TSYLEVPGRL NQDLFSVSFQ FRTWNPNGLL VFSHFADNLG 

       430        440        450        460        470        480 
NVEIDLTESK VGVHINITQT KMSQIDISSG SGLNDGQWHE VRFLAKENFA ILTIDGDEAS 

       490        500        510        520        530        540 
AVRTNSPLQV KTGEKYFFGG FLNQMNNSSH SVLQPSFQGC MQLIQVDDQL VNLYEVAQRK 

       550        560        570        580        590        600 
PGSFANVSID MCAIIDRCVP NHCEHGGKCS QTWDSFKCTC DETGYSGATC HNSIYEPSCE 

       610        620        630        640        650        660 
AYKHLGQTSN YYWIDPDGSG PLGPLKVYCN MTEDKVWTIV SHDLQMQTPV VGYNPEKYSV 

       670        680        690        700        710        720 
TQLVYSASMD QISAITDSAE YCEQYVSYFC KMSRLLNTPD GSPYTWWVGK ANEKHYYWGG 

       730        740        750        760        770        780 
SGPGIQKCAC GIERNCTDPK YYCNCDADYK QWRKDAGFLS YKDHLPVSQV VVGDTDRQGS 

       790        800        810        820        830        840 
EAKLSVGPLR CQGDRNYWNA ASFPNPSSYL HFSTFQGETS ADISFYFKTL TPWGVFLENM 

       850        860        870        880        890        900 
GKEDFIKLEL KSATEVSFSF DVGNGPVEIV VRSPTPLNDD QWHRVTAERN VKQASLQVDR 

       910        920        930        940        950        960 
LPQQIRKAPT EGHTRLELYS QLFVGGAGGQ QGFLGCIRSL RMNGVTLDLE ERAKVTSGFI 

       970        980        990       1000       1010       1020 
SGCSGHCTSY GTNCENGGKC LERYHGYSCD CSNTAYDGTF CNKDVGAFFE EGMWLRYNFQ 

      1030       1040       1050       1060       1070       1080 
APATNARDSS SRVDNAPDQQ NSHPDLAQEE IRFSFSTTKA PCILLYISSF TTDFLAVLVK 

      1090       1100       1110       1120       1130       1140 
PTGSLQIRYN LGGTREPYNI DVDHRNMANG QPHSVNITRH EKTIFLKLDH YPSVSYHLPS 

      1150       1160       1170       1180       1190       1200 
SSDTLFNSPK SLFLGKVIET GKIDQEIHKY NTPGFTGCLS RVQFNQIAPL KAALRQTNAS 

      1210       1220       1230       1240       1250       1260 
AHVHIQGELV ESNCGASPLT LSPMSSATDP WHLDHLDSAS ADFPYNPGQG QAIRNGVNRN 

      1270       1280       1290       1300       1310       1320 
SAIIGGVIAV VIFTILCTLV FLIRYMFRHK GTYHTNEAKG AESAESADAA IMNNDPNFTE 

      1330 
TIDESKKEWL I 

« Hide

Isoform 2 [UniParc].

Checksum: F0EB322C735B773E
Show »

FASTA10811,899

References

« Hide 'large scale' references
[1]"Caspr2, a new member of the neurexin superfamily, is localized at the juxtaparanodes of myelinated axons and associates with K+ channels."
Poliak S., Gollan L., Martinez R., Custer A., Einheber S., Salzer J.L., Trimmer J.S., Shrager P., Peles E.
Neuron 24:1037-1047(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), CHARACTERIZATION.
Tissue: Brain.
[2]"The human contactin-associated protein-like 2 gene (CNTNAP2) spans over 2 Mb of DNA at chromosome 7q35."
Nakabayashi K., Scherer S.W.
Genomics 73:108-112(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[3]"Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
Nagase T., Ishikawa K., Suyama M., Kikuno R., Hirosawa M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
DNA Res. 5:355-364(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Brain.
[4]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Retina.
[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.
[7]"Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2."
Strauss K.A., Puffenberger E.G., Huentelman M.J., Gottlieb S., Dobrin S.E., Parod J.M., Stephan D.A., Morton D.H.
N. Engl. J. Med. 354:1370-1377(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN CDFES.
[8]"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-589 AND TYR-595, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Leukemic T-cell.
[9]"Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders."
Bakkaloglu B., O'Roak B.J., Louvi A., Gupta A.R., Abelson J.F., Morgan T.M., Chawarska K., Klin A., Ercan-Sencicek A.G., Stillman A.A., Tanriover G., Abrahams B.S., Duvall J.A., Robbins E.M., Geschwind D.H., Biederer T., Gunel M., Lifton R.P., State M.W.
Am. J. Hum. Genet. 82:165-173(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS GLN-114; MET-218; MET-226; CYS-283; ASN-382; SER-407; ASP-418; LYS-680; GLN-699; CYS-716; SER-731; ASP-779; THR-869; HIS-906; ASN-1038; ALA-1102; GLY-1114; HIS-1119; HIS-1129; THR-1227; THR-1253 AND ILE-1278, CHROMOSOMAL REARRANGEMENT, ASSOCIATION WITH SUSCEPTIBILITY TO AUTISM.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF193613 mRNA. Translation: AAF25199.1.
AF319045 mRNA. Translation: AAK34932.1.
AF318292 Genomic DNA. Translation: AAK49902.1.
AF318298 Genomic DNA. Translation: AAK49903.1.
AB020675 mRNA. Translation: BAA74891.1. Different initiation.
CR933671 mRNA. Translation: CAI45967.1.
CH471146 Genomic DNA. Translation: EAW80084.1.
BC093780 mRNA. Translation: AAH93780.1.
BC113373 mRNA. Translation: AAI13374.1.
RefSeqNP_054860.1. NM_014141.5.
UniGeneHs.655684.

3D structure databases

ProteinModelPortalQ9UHC6.
SMRQ9UHC6. Positions 34-606, 799-1209.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid117510. 8 interactions.
IntActQ9UHC6. 5 interactions.
MINTMINT-241211.
STRING9606.ENSP00000354778.

PTM databases

PhosphoSiteQ9UHC6.

Polymorphism databases

DMDM17433089.

Proteomic databases

PaxDbQ9UHC6.
PRIDEQ9UHC6.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000361727; ENSP00000354778; ENSG00000174469. [Q9UHC6-1]
GeneID26047.
KEGGhsa:26047.
UCSCuc003weu.2. human. [Q9UHC6-1]
uc003wev.2. human. [Q9UHC6-2]

Organism-specific databases

CTD26047.
GeneCardsGC07P145863.
HGNCHGNC:13830. CNTNAP2.
HPAHPA002739.
MIM604569. gene.
610042. phenotype.
612100. phenotype.
neXtProtNX_Q9UHC6.
Orphanet106. Autism.
163681. Cortical dysplasia - focal epilepsy syndrome.
221150. Pitt-Hopkins-like syndrome.
PharmGKBPA26692.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG291100.
HOGENOMHOG000230964.
HOVERGENHBG057718.
InParanoidQ9UHC6.
KOK07380.
OMAQKCDEPL.
OrthoDBEOG7GXP9N.
PhylomeDBQ9UHC6.
TreeFamTF321823.

Gene expression databases

ArrayExpressQ9UHC6.
BgeeQ9UHC6.
CleanExHS_CNTNAP2.
GenevestigatorQ9UHC6.

Family and domain databases

Gene3D2.60.120.200. 5 hits.
2.60.120.260. 1 hit.
InterProIPR028874. Caspr2/Caspr5.
IPR000421. Coagulation_fac_5/8-C_type_dom.
IPR008985. ConA-like_lec_gl_sf.
IPR013320. ConA-like_subgrp.
IPR000742. EG-like_dom.
IPR002181. Fibrinogen_a/b/g_C_dom.
IPR008979. Galactose-bd-like.
IPR001791. Laminin_G.
IPR003585. Neurexin-like.
[Graphical view]
PANTHERPTHR10127:SF7. PTHR10127:SF7. 1 hit.
PfamPF00008. EGF. 1 hit.
PF00754. F5_F8_type_C. 1 hit.
PF02210. Laminin_G_2. 4 hits.
[Graphical view]
SMARTSM00294. 4.1m. 1 hit.
SM00181. EGF. 1 hit.
SM00231. FA58C. 1 hit.
SM00282. LamG. 4 hits.
[Graphical view]
SUPFAMSSF49785. SSF49785. 1 hit.
SSF49899. SSF49899. 4 hits.
SSF56496. SSF56496. 1 hit.
PROSITEPS50026. EGF_3. 2 hits.
PS01285. FA58C_1. 1 hit.
PS01286. FA58C_2. 1 hit.
PS50022. FA58C_3. 1 hit.
PS51406. FIBRINOGEN_C_2. 1 hit.
PS50025. LAM_G_DOMAIN. 4 hits.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSCNTNAP2. human.
GeneWikiCNTNAP2.
GenomeRNAi26047.
NextBio47891.
PROQ9UHC6.
SOURCESearch...

Entry information

Entry nameCNTP2_HUMAN
AccessionPrimary (citable) accession number: Q9UHC6
Secondary accession number(s): D3DWG2 expand/collapse secondary AC list , Q14DG2, Q52LV1, Q5H9Q7, Q9UQ12
Entry history
Integrated into UniProtKB/Swiss-Prot: December 5, 2001
Last sequence update: May 1, 2000
Last modified: April 16, 2014
This is version 138 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

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