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Q3ZCN5 (OTOGL_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 70. 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·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Otogelin-like protein
Gene names
Name:OTOGL
Synonyms:C12orf64
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length2332 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at transcript level

General annotation (Comments)

Subcellular location

Secreted Potential.

Tissue specificity

Expressed at high levels in fetal inner ear and heart. Low levels in fetal skeletal muscle, kidney, spleen and colon. Not detected in fetal liver, lung, brain, nor in fetal stomach. In adult tissues, highest levels in brain, kidney, heart and retina. Relatively low levels in lung, spleen and duodenum. Not detected in adult skeletal muscle, liver, nor testis. Ref.4

Involvement in disease

Deafness, autosomal recessive, 84B (DFNB84B) [MIM:614944]: A form of non-syndromic deafness characterized by congenital, non-progressive, sensorineural, symmetric hearing loss. Vestibular hypofunction is rarely observed.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.4

Sequence similarities

Belongs to the otogelin family.

Contains 1 CTCK (C-terminal cystine knot-like) domain.

Contains 2 TIL (trypsin inhibitory-like) domains.

Contains 4 VWFD domains.

Sequence caution

The sequence BAC04877.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

The sequence BAC11376.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Ontologies

Keywords
   Cellular componentSecreted
   Coding sequence diversityPolymorphism
   DiseaseDeafness
Non-syndromic deafness
   DomainRepeat
Signal
   PTMDisulfide bond
Glycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processL-arabinose metabolic process

Inferred from electronic annotation. Source: InterPro

   Cellular_componentextracellular region

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionalpha-L-arabinofuranosidase activity

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2222 Potential
Chain23 – 23322310Otogelin-like protein
PRO_0000316765

Regions

Domain113 – 326214VWFD 1
Domain381 – 43454TIL 1
Domain473 – 683211VWFD 2
Domain736 – 79156TIL 2
Domain938 – 1141204VWFD 3
Domain1514 – 1734221VWFD 4
Domain2240 – 233293CTCK
Compositional bias1908 – 2095188Cys-rich

Amino acid modifications

Glycosylation1351N-linked (GlcNAc...) Potential
Glycosylation4251N-linked (GlcNAc...) Potential
Glycosylation4641N-linked (GlcNAc...) Potential
Glycosylation8171N-linked (GlcNAc...) Potential
Glycosylation8671N-linked (GlcNAc...) Potential
Glycosylation12801N-linked (GlcNAc...) Potential
Glycosylation15831N-linked (GlcNAc...) Potential
Glycosylation21771N-linked (GlcNAc...) Potential
Disulfide bond136 ↔ 144 By similarity
Disulfide bond2240 ↔ 2296 By similarity
Disulfide bond2261 ↔ 2310 By similarity
Disulfide bond2272 ↔ 2327 By similarity
Disulfide bond2276 ↔ 2329 By similarity

Natural variations

Natural variant13781C → R. Ref.4
VAR_069040
Natural variant22761C → F in a breast cancer sample; somatic mutation. Ref.5
VAR_038388

Experimental info

Sequence conflict20621I → V in BAC04877. Ref.2
Sequence conflict20621I → V in AAI01018. Ref.3
Sequence conflict20621I → V in AAI01019. Ref.3
Sequence conflict21201A → T in BAC04877. Ref.2
Sequence conflict21201A → T in BAC11376. Ref.2
Sequence conflict21201A → T in AAI01018. Ref.3
Sequence conflict21201A → T in AAI01019. Ref.3
Sequence conflict22251N → S in BAC11376. Ref.2
Sequence conflict22251N → S in AAI01018. Ref.3
Sequence conflict22251N → S in AAI01019. Ref.3
Sequence conflict22531K → E in BAC04877. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Q3ZCN5 [UniParc].

Last modified February 6, 2013. Version 5.
Checksum: D43BCCDB7727CB80

FASTA2,332262,091
        10         20         30         40         50         60 
MIPWSIFLLH VLLFSLQEYI CASSILMGTS KNGFNENRQK RALLAAQFEA TSPRYFFHDA 

        70         80         90        100        110        120 
INWGESKIKG SCPYECLNGA FCSKTGTCDC QIFQALGTRC QIIPNMGNGR DGICKTWGQY 

       130        140        150        160        170        180 
HFETFDGIYY YFPGNCSYIF AKDCGDLEPR YTVWVHNSPK CLGSVYSCYR SISLFFSNQE 

       190        200        210        220        230        240 
EIRIYGHEIK KNGISLTLPQ TIGQIFIEKL ADYILVKTTF GFSLAWDGIS GIYLKLSEDH 

       250        260        270        280        290        300 
KGKSCGLCGN YNDIQSDDFI ILQEDYTEDI AMFANSWSVQ TPDDTKCVLT PSDFPNPCSS 

       310        320        330        340        350        360 
GMPAFEAIFF KCQILLQFPF LSCHEYIDPY LYIASCVNDL CKTDDDETYC RAATEYARAC 

       370        380        390        400        410        420 
SHAGYPIQDW RDDFPACTDK CDDSFVHRDC ISCCPPTCTF EKQCLGSNLH CLDGCYCPDG 

       430        440        450        460        470        480 
LVMDNGTCIS LENCPCGFHG LAYSVGSKIE QECTECVCVG GVWNCTEQDC PVQCSVVGDS 

       490        500        510        520        530        540 
HFTTFDGRHY SFIGMCQYIL VKGTGKDKFT ITLQKAPCEQ NLGLVCLQSI TLILEDDFNK 

       550        560        570        580        590        600 
QVTLGRGGQI LTSPNQGFNL NGIVEIQTLS SLFILLKTTF GLKILFAIDG ERIYIQLTSA 

       610        620        630        640        650        660 
WKRRTLGLCG TFNGNIRDDF LSPSGMIEGT PQLHANAWRV SSTCFAPVHV PVVDPCNINQ 

       670        680        690        700        710        720 
QNIGYAAHCD VIHQELFAPC HIYISPGLYY QLCRHDACKC GSSCLCNALA HYAYLCGQHG 

       730        740        750        760        770        780 
VPIDFRTQIS FCAVVCQKGM LYHHCSSFCL HSCISLSSPE QCSDDCAEGC NCPEGKFYED 

       790        800        810        820        830        840 
TLNFCVPIFH CRCHYRGSVY QPGELIPTPS GLCQCSNGTV KCDELATPSA VHICPEGKEY 

       850        860        870        880        890        900 
FDCRFPDPEL PAGGVNCETT CANLAMNFTC TPSSPCISGC VCAPGMAEHR GKCYVPESCP 

       910        920        930        940        950        960 
CIWKDWEYLS GEVIATPCYT CVCRRGMFNC TYYPCPAVCT IYGDRHYYSF DGLEYDYISD 

       970        980        990       1000       1010       1020 
CQVFLIKSAD DSDISVIAQN KKCFDNDIVC SKSVLISVGD TEIYLNDTPY KQKQSGFFLE 

      1030       1040       1050       1060       1070       1080 
NKSTYQLWKA GYYIVVYFPE KDITILWDRK TTIHIKVGPQ WKNKLSGLCG NFDKCTSNDM 

      1090       1100       1110       1120       1130       1140 
TTSNNLEVRN ARVFGDSWAL GQCESPDETI KPCEAHQNKF PYAKKECSIL YSDIFASCRN 

      1150       1160       1170       1180       1190       1200 
VIDVTSFAKN CHEDTCNCNL GGDCECLCTS IAAYAYKCCQ EGISIHWRSS TVCSLDCEYY 

      1210       1220       1230       1240       1250       1260 
NEGLGEGPYM LASYGQSGLV LGANMTSRSV FCLPRSSVHT SLFFYFMITP GLFKEKVSSL 

      1270       1280       1290       1300       1310       1320 
ALVSLESAER PNYFLYVHDN DTLSLELWEA NSAFHRRATF FHHQGLWIPG YSAFELYSKK 

      1330       1340       1350       1360       1370       1380 
GFFIIFTDSS VKASKYDDSE EFKHSSSFSI EEIQAAVPYR KMCEWRYEPC ATPCFKTCSD 

      1390       1400       1410       1420       1430       1440 
PEALACKFLP PVEGCLPYCP KNMILDEVTL KCVYPRDCIP VIPTEPTLMP PAKPTVPITV 

      1450       1460       1470       1480       1490       1500 
FDMLTPTTGL ECEPQKFDPV YDCSQYICLN MEWQLYNWSL NCPKDVEMPD CGFRGRPVQV 

      1510       1520       1530       1540       1550       1560 
NSDICCPEWE CPCRCSMLSE LSIITFDGNN AALYSMASYI LVRIPGEIIV AHIEKCSMNQ 

      1570       1580       1590       1600       1610       1620 
NGNSLKKLAP SGRISGLCFK KLNVTTPIHK IIVNRLARKV EVDSIVVPLP FSSQELSIED 

      1630       1640       1650       1660       1670       1680 
SGSMYVITTP AGLIIKWSHL TGIIDIHFGF RFNLSSYTEG LCGICNEDPD DDLRMQNGTI 

      1690       1700       1710       1720       1730       1740 
ITNMEDIGLF IESWEIEKSF EVTMRRPVRN CTEHDCSQCI DLLNRRIFIP CHDKVSPEDF 

      1750       1760       1770       1780       1790       1800 
CEKMWINYTY FWNYECDALS AYVALCNKFD ICIQWRTPDY CSLSCPEGKE YQPCVRPCEA 

      1810       1820       1830       1840       1850       1860 
RTCLNQWFYG HTSCLNLRED CVCKVGTILH RPHSAQCIPE KECACTDSED QPRTAGEIWN 

      1870       1880       1890       1900       1910       1920 
GGIDECTLYK CLENGSIIPI EPDCDEEPTP VCEREAEVVM GIIDKWTCCS KEVCGCDTTL 

      1930       1940       1950       1960       1970       1980 
CETSIPTCTN SQKLIVGHSP LSCCPQYKCE CDPLKCPSIS TPECREDQFM IQVRQEEPCC 

      1990       2000       2010       2020       2030       2040 
FSPFCVCESC TKPVPLCHDG EFLTVDLNST HFCCPQYYCV CEPNLCPMPL LNCAEDMNLV 

      2050       2060       2070       2080       2090       2100 
KENVSGQCCP TWHCECNCEN LIMPTCEVGE FTAIDHNFQS DCGCIQYLCE KDDVCVFQEV 

      2110       2120       2130       2140       2150       2160 
SVLNPGQSMI KYLEEDFCYA IECLEEKDNH TGFHTLNFTL VNCSKKCDVH QVYTPSPSDY 

      2170       2180       2190       2200       2210       2220 
GCCGTCKNVS CKFHMENGTS VVYAVGSTWH YNCTTYECVK TDEGAIILNY TMVCPPFNET 

      2230       2240       2250       2260       2270       2280 
ECKMNEGIVK LYNEGCCKIC KREERICQKV IIKSVIRKQD CMSQSPINVA SCDGKCPSAT 

      2290       2300       2310       2320       2330 
IYNINIESHL RFCKCCRENG VRNLSVPLYC SGNGTEIMYT LQEPIDCTCQ WN 

« Hide

References

« Hide 'large scale' references
[1]"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].
[2]"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 1915-2332.
Tissue: Placenta and Vascular endothelial cell.
[3]"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] OF 1938-2332.
[4]"Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss."
Yariz K.O., Duman D., Seco C.Z., Dallman J., Huang M., Peters T.A., Sirmaci A., Lu N., Schraders M., Skromne I., Oostrik J., Diaz-Horta O., Young J.I., Tokgoz-Yilmaz S., Konukseven O., Shahin H., Hetterschijt L., Kanaan M. expand/collapse author list , Oonk A.M., Edwards Y.J., Li H., Atalay S., Blanton S., Desmidt A.A., Liu X.Z., Pennings R.J., Lu Z., Chen Z.Y., Kremer H., Tekin M.
Am. J. Hum. Genet. 91:872-882(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN DFNB84B, VARIANT ARG-1378, TISSUE SPECIFICITY.
[5]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] PHE-2276.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AC078817 Genomic DNA. No translation available.
AC083812 Genomic DNA. No translation available.
AC092945 Genomic DNA. No translation available.
AK075060 mRNA. Translation: BAC11376.1. Different initiation.
AK096852 mRNA. Translation: BAC04877.1. Different initiation.
BC101017 mRNA. Translation: AAI01018.3.
BC101018 mRNA. Translation: AAI01019.2.
UniGeneHs.723594.

3D structure databases

ProteinModelPortalQ3ZCN5.
ModBaseSearch...
MobiDBSearch...

PTM databases

PhosphoSiteQ3ZCN5.

Polymorphism databases

DMDM449081296.

Proteomic databases

PaxDbQ3ZCN5.
PRIDEQ3ZCN5.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000547103; ENSP00000447211; ENSG00000165899.
UCSCuc021rba.1. human.

Organism-specific databases

GeneCardsGC12P080603.
H-InvDBHIX0018423.
HGNCHGNC:26901. OTOGL.
HPAHPA040364.
MIM614925. gene.
614944. phenotype.
neXtProtNX_Q3ZCN5.
Orphanet90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG325585.
HOGENOMHOG000115301.
HOVERGENHBG107710.
InParanoidQ3ZCN5.
OrthoDBEOG73V6J9.
TreeFamTF330609.

Gene expression databases

ArrayExpressQ3ZCN5.
BgeeQ3ZCN5.
CleanExHS_C12orf64.
GenevestigatorQ3ZCN5.

Family and domain databases

InterProIPR007934. AbfB.
IPR006207. Cys_knot_C.
IPR002919. TIL_dom.
IPR014853. Unchr_dom_Cys-rich.
IPR001846. VWF_type-D.
[Graphical view]
PfamPF05270. AbfB. 1 hit.
PF08742. C8. 4 hits.
PF01826. TIL. 2 hits.
PF00094. VWD. 4 hits.
[Graphical view]
SMARTSM00832. C8. 4 hits.
SM00041. CT. 1 hit.
SM00216. VWD. 4 hits.
[Graphical view]
SUPFAMSSF110221. SSF110221. 1 hit.
SSF57567. SSF57567. 4 hits.
PROSITEPS01225. CTCK_2. 1 hit.
PS51233. VWFD. 4 hits.
[Graphical view]
ProtoNetSearch...

Other

NextBio35512394.
PROQ3ZCN5.
SOURCESearch...

Entry information

Entry nameOTOGL_HUMAN
AccessionPrimary (citable) accession number: Q3ZCN5
Secondary accession number(s): F8W0C3 expand/collapse secondary AC list , Q495U8, Q8N8G5, Q8NC28
Entry history
Integrated into UniProtKB/Swiss-Prot: February 5, 2008
Last sequence update: February 6, 2013
Last modified: April 16, 2014
This is version 70 of the entry and version 5 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