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Q86UW7 (CAPS2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 107. 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:
Calcium-dependent secretion activator 2
Alternative name(s):
Calcium-dependent activator protein for secretion 2
Short name=CAPS-2
Gene names
Name:CADPS2
Synonyms:CAPS2, KIAA1591
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1296 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Calcium-binding protein involved in exocytosis of vesicles filled with neurotransmitters and neuropeptides. Probably acts upstream of fusion in the biogenesis or maintenance of mature secretory vesicles. Regulates neurotrophin release from granule cells leading to regulate cell differentiation and survival during cerebellar development. May specifically mediate the Ca2+-dependent exocytosis of large dense-core vesicles (DCVs) and other dense-core vesicles By similarity.

Subunit structure

Homodimer By similarity. Interacts with the dopamine receptor DRD2. Ref.9

Subcellular location

Cytoplasmic vesicle membrane; Peripheral membrane protein; Cytoplasmic side Potential. Cell junctionsynapse. Note: Membrane-associated to vesicles. Strongly enriched in synaptic fractions. Probably localizes to different vesicles compared to CADPS. Enriched on vesicular structures in the parallel fiber terminal of granule cells that are distinct from synaptic vesicles.

Tissue specificity

Widely expressed. Expressed in all adult and fetal tissues examined, with the strongest expression in kidney and pancreas. In brain, it is expressed at high levels in cerebellum, to a lesser degree in cerebral cortex, occipital pole, and frontal and temporal lobes. Only weakly expressed in medulla, spinal cord and putamen. Ref.2

Domain

The PH domain is essential for regulated exocytosis and binds phospholipids By similarity.

Sequence similarities

Contains 1 C2 domain.

Contains 1 MHD1 (MUNC13 homology domain 1) domain.

Contains 1 PH domain.

Sequence caution

The sequence AAH54339.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence.

The sequence AK098170 differs from that shown. Reason: Chimera.

The sequence BAA91372.1 differs from that shown. Reason: Erroneous initiation.

The sequence BAB15210.1 differs from that shown. Reason: Erroneous initiation.

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q86UW7-1)

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: Q86UW7-2)

The sequence of this isoform differs from the canonical sequence as follows:
     618-621: SGKD → Y
     860-862: Missing.
     963-1003: KNIANSLPNVALPKVPSLPLNLPQIPNISTASWMPSLYEST → N
     1104-1104: E → EFGSQW
Isoform 3 (identifier: Q86UW7-3)

The sequence of this isoform differs from the canonical sequence as follows:
     618-621: SGKD → Y
     860-862: Missing.
     963-1003: KNIANSLPNVALPKVPSLPLNLPQIPNISTASWMPSLYEST → N
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 12961296Calcium-dependent secretion activator 2
PRO_0000053868

Regions

Domain367 – 44781C2
Domain487 – 590104PH
Domain885 – 1056172MHD1
Region755 – 1074320Interaction with DRD2

Amino acid modifications

Modified residue561Phosphoserine Ref.10
Modified residue581Phosphoserine Ref.10

Natural variations

Alternative sequence618 – 6214SGKD → Y in isoform 2 and isoform 3.
VSP_016815
Alternative sequence860 – 8623Missing in isoform 2 and isoform 3.
VSP_016816
Alternative sequence963 – 100341KNIAN…LYEST → N in isoform 2 and isoform 3.
VSP_016817
Alternative sequence11041E → EFGSQW in isoform 2.
VSP_016818
Natural variant2981A → T. Ref.2
Corresponds to variant rs17144625 [ dbSNP | Ensembl ].
VAR_024786

Experimental info

Sequence conflict44 – 474APGR → GRG in AAN38707. Ref.2
Sequence conflict901F → L in AAP22132. Ref.1
Sequence conflict3601D → G in AAP22132. Ref.1
Sequence conflict4571S → T in AK098170. Ref.6
Sequence conflict4881M → I in AAN38707. Ref.2
Sequence conflict5791I → V in BAB15210. Ref.6
Sequence conflict10681S → G in BAB15210. Ref.6

Sequences

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

Last modified January 10, 2006. Version 2.
Checksum: 7BF3456F3D90410C

FASTA1,296147,735
        10         20         30         40         50         60 
MLDPSSSEEE SDEGLEEESR DVLVAAGSSQ RAPPAPTREG RRDAPGRAGG GGAARSVSPS 

        70         80         90        100        110        120 
PSVLSEGRDE PQRQLDDEQE RRIRLQLYVF VVRCIAYPFN AKQPTDMARR QQKLNKQQLQ 

       130        140        150        160        170        180 
LLKERFQAFL NGETQIVADE AFCNAVRSYY EVFLKSDRVA RMVQSGGCSA NDFREVFKKN 

       190        200        210        220        230        240 
IEKRVRSLPE IDGLSKETVL SSWIAKYDAI YRGEEDLCKQ PNRMALSAVS ELILSKEQLY 

       250        260        270        280        290        300 
EMFQQILGIK KLEHQLLYNA CQLDNADEQA AQIRRELDGR LQLADKMAKE RKFPKFIAKD 

       310        320        330        340        350        360 
MENMYIEELR SSVNLLMANL ESLPVSKGGP EFKLQKLKRS QNSAFLDIGD ENEIQLSKSD 

       370        380        390        400        410        420 
VVLSFTLEIV IMEVQGLKSV APNRIVYCTM EVEGEKLQTD QAEASRPQWG TQGDFTTTHP 

       430        440        450        460        470        480 
RPVVKVKLFT ESTGVLALED KELGRVILYP TSNSSKSAEL HRMVVPKNSQ DSDLKIKLAV 

       490        500        510        520        530        540 
RMDKPAHMKH SGYLYALGQK VWKRWKKRYF VLVQVSQYTF AMCSYREKKS EPQELMQLEG 

       550        560        570        580        590        600 
YTVDYTDPHP GLQGGCMFFN AVKEGDTVIF ASDDEQDRIL WVQAMYRATG QSYKPVPAIQ 

       610        620        630        640        650        660 
TQKLNPKGGT LHADAQLSGK DADRFQKHGM DEFISANPCK LDHAFLFRIL QRQTLDHRLN 

       670        680        690        700        710        720 
DSYSCLGWFS PGQVFVLDEY CARYGVRGCH RHLCYLAELM EHSENGAVID PTLLHYSFAF 

       730        740        750        760        770        780 
CASHVHGNRP DGIGTVSVEE KERFEEIKER LSSLLENQIS HFRYCFPFGR PEGALKATLS 

       790        800        810        820        830        840 
LLERVLMKDI ATPIPAEEVK KVVRKCLEKA ALINYTRLTE YAKIEETMNQ ASPARKLEEI 

       850        860        870        880        890        900 
LHLAELCIEV LQQNEEHHAE GREAFAWWPD LLAEHAEKFW ALFTVDMDTA LEAQPQDSWD 

       910        920        930        940        950        960 
SFPLFQLLNN FLRNDTLLCN GKFHKHLQEI FVPLVVRYVD LMESSIAQSI HRGFEQETWQ 

       970        980        990       1000       1010       1020 
PVKNIANSLP NVALPKVPSL PLNLPQIPNI STASWMPSLY ESTNGSATSE DLFWKLDALQ 

      1030       1040       1050       1060       1070       1080 
MFVFDLHWPE QEFAHHLEQR LKLMASDMLE ACVKRTRTAF ELKLQKASKT TDLRIPASVC 

      1090       1100       1110       1120       1130       1140 
TMFNVLVDAK KQSTKLCALD GGQEQQYHSK IDDLIDNSVK EIISLLVSKF VSVLEGVLSK 

      1150       1160       1170       1180       1190       1200 
LSRYDEGTFF SSILSFTVKA AAKYVDVPKP GMDLADTYIM FVRQNQDILR EKVNEEMYIE 

      1210       1220       1230       1240       1250       1260 
KLFDQWYSSS MKVICVWLTD RLDLQLHIYQ LKTLIKIVKK TYRDFRLQGV LEGTLNSKTY 

      1270       1280       1290 
DTVHRRLTVE EATASVSEGG GLQGITMKDS DEEEEG 

« Hide

Isoform 2 [UniParc].

Checksum: D13DA3579388CC04
Show »

FASTA1,255143,489
Isoform 3 [UniParc].

Checksum: C13FA0A5AC04DD7F
Show »

FASTA1,250142,883

References

« Hide 'large scale' references
[1]"A family of Ca2+-dependent activator proteins for secretion: comparative analysis of structure, expression, localization, and function."
Speidel D., Varoqueaux F., Enk C., Nojiri M., Grishanin R.N., Martin T.F.J., Hofmann K., Brose N., Reim K.
J. Biol. Chem. 278:52802-52809(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[2]"Cloning and characterization of human CADPS and CADPS2, new members of the Ca2+-dependent activator for secretion protein family."
Cisternas F.A., Vincent J.B., Scherer S.W., Ray P.N.
Genomics 81:279-291(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), TISSUE SPECIFICITY, VARIANT THR-298.
[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]"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 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-180.
Tissue: Brain, Skin and Testis.
[6]"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] OF 1-506 (ISOFORM 1), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 804-1296 (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 353-1296 (ISOFORM 3).
Tissue: Hepatoma and Trachea.
[7]"Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
Nagase T., Kikuno R., Nakayama M., Hirosawa M., Ohara O.
DNA Res. 7:273-281(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 238-1296 (ISOFORM 2).
[8]"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] OF 262-1296 (ISOFORM 2).
Tissue: Stomach.
[9]"Regulation of dense core vesicle release from PC12 cells by interaction between the D2 dopamine receptor and calcium-dependent activator protein for secretion (CAPS)."
Binda A.V., Kabbani N., Levenson R.
Biochem. Pharmacol. 69:1451-1461(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH DRD2.
[10]"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-56 AND SER-58, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AY264289 mRNA. Translation: AAP22132.1.
AF401638 mRNA. Translation: AAN38707.1.
AC004594 Genomic DNA. No translation available.
AC004838 Genomic DNA. No translation available.
AC004986 Genomic DNA. No translation available.
AC006009 Genomic DNA. No translation available.
AC006463 Genomic DNA. No translation available.
AC015983 Genomic DNA. No translation available.
AC091438 Genomic DNA. No translation available.
CH236947 Genomic DNA. Translation: EAL24339.1.
BC054339 mRNA. Translation: AAH54339.1. Sequence problems.
BC136601 mRNA. Translation: AAI36602.1.
BC144278 mRNA. Translation: AAI44279.1.
AK000768 mRNA. Translation: BAA91372.1. Different initiation.
AK025672 mRNA. Translation: BAB15210.1. Different initiation.
AK098170 mRNA. No translation available.
AB046811 mRNA. Translation: BAB13417.1.
AL833058 mRNA. Translation: CAH56288.1.
RefSeqNP_001009571.2. NM_001009571.3.
NP_001161412.1. NM_001167940.1.
NP_060424.9. NM_017954.10.
XP_005250765.1. XM_005250708.1.
UniGeneHs.649459.

3D structure databases

ProteinModelPortalQ86UW7.
SMRQ86UW7. Positions 488-601.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid125051. 9 interactions.
IntActQ86UW7. 13 interactions.
MINTMINT-6939745.

PTM databases

PhosphoSiteQ86UW7.

Polymorphism databases

DMDM85540964.

Proteomic databases

PaxDbQ86UW7.
PRIDEQ86UW7.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000412584; ENSP00000400401; ENSG00000081803. [Q86UW7-2]
ENST00000449022; ENSP00000398481; ENSG00000081803. [Q86UW7-1]
GeneID93664.
KEGGhsa:93664.
UCSCuc003vkg.4. human. [Q86UW7-3]
uc010lkq.3. human. [Q86UW7-2]
uc022akq.1. human. [Q86UW7-1]

Organism-specific databases

CTD93664.
GeneCardsGC07M121958.
HGNCHGNC:16018. CADPS2.
MIM609978. gene.
neXtProtNX_Q86UW7.
PharmGKBPA26025.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG292723.
HOVERGENHBG080678.
InParanoidQ86UW7.
OMAHMKHSGY.
OrthoDBEOG7K0ZD0.
PhylomeDBQ86UW7.

Gene expression databases

ArrayExpressQ86UW7.
BgeeQ86UW7.
CleanExHS_CAPS2.
GenevestigatorQ86UW7.

Family and domain databases

Gene3D2.30.29.30. 1 hit.
InterProIPR000008. C2_dom.
IPR010439. Ca-dep_secretion_activator.
IPR014770. Munc13_1.
IPR011993. PH_like_dom.
IPR001849. Pleckstrin_homology.
[Graphical view]
PfamPF06292. DUF1041. 1 hit.
PF00169. PH. 1 hit.
[Graphical view]
SMARTSM00239. C2. 1 hit.
SM00233. PH. 1 hit.
[Graphical view]
SUPFAMSSF49562. SSF49562. 1 hit.
PROSITEPS51258. MHD1. 1 hit.
PS50003. PH_DOMAIN. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSCADPS2. human.
GeneWikiCADPS2.
GenomeRNAi93664.
NextBio78208.
PROQ86UW7.
SOURCESearch...

Entry information

Entry nameCAPS2_HUMAN
AccessionPrimary (citable) accession number: Q86UW7
Secondary accession number(s): A4D0X3 expand/collapse secondary AC list , B7ZM56, Q658Q2, Q7Z5T7, Q8IZW9, Q8N7M4, Q9H6P4, Q9HCI1, Q9NWK8
Entry history
Integrated into UniProtKB/Swiss-Prot: January 10, 2006
Last sequence update: January 10, 2006
Last modified: April 16, 2014
This is version 107 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 7

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