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

Q14112 (NID2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 141. 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:
Nidogen-2

Short name=NID-2
Alternative name(s):
Osteonidogen
Gene names
Name:NID2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1375 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Cell adhesion glycoprotein which is widely distributed in basement membranes. Binds to collagens I and IV, to perlecan and to laminin 1. Does not bind fibulins. It probably has a role in cell-extracellular matrix interactions.

Subunit structure

Interacts with LAMA2 By similarity. Interacts with COL13A1. Ref.6

Subcellular location

Secretedextracellular spaceextracellular matrixbasement membrane.

Tissue specificity

Heart, placenta and bone. Less in pancreas, kidney and skeletal muscle.

Post-translational modification

Highly N- and O-glycosylated.

Sequence similarities

Contains 5 EGF-like domains.

Contains 5 LDL-receptor class B repeats.

Contains 1 NIDO domain.

Contains 1 nidogen G2 beta-barrel domain.

Contains 2 thyroglobulin type-1 domains.

Sequence caution

The sequence BAA13087.1 differs from that shown. Reason: Frameshift at positions 54, 68, 150 and 172.

The sequence BAA24112.1 differs from that shown. Reason: Frameshift at positions 54, 68, 150 and 172.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q14112-1)

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: Q14112-2)

The sequence of this isoform differs from the canonical sequence as follows:
     7-59: Missing.
     844-892: LITPPANPCEDGSHTCAPAGQARCVHHGGSTFSCACLPGYAGDGHQCTD → Y
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 3030 Ref.1
Chain31 – 13751345Nidogen-2
PRO_0000007671

Regions

Domain108 – 273166NIDO
Domain484 – 52441EGF-like 1
Domain528 – 758231Nidogen G2 beta-barrel
Domain759 – 80042EGF-like 2
Domain801 – 84343EGF-like 3; calcium-binding Potential
Domain848 – 89144EGF-like 4
Domain892 – 93039EGF-like 5; calcium-binding Potential
Domain937 – 100569Thyroglobulin type-1 1
Domain1016 – 108469Thyroglobulin type-1 2
Repeat1154 – 119744LDL-receptor class B 1
Repeat1198 – 124043LDL-receptor class B 2
Repeat1241 – 128545LDL-receptor class B 3
Repeat1286 – 132742LDL-receptor class B 4
Repeat1329 – 137345LDL-receptor class B 5

Amino acid modifications

Glycosylation4171N-linked (GlcNAc...) Probable
Glycosylation6581N-linked (GlcNAc...) Probable
Glycosylation6931N-linked (GlcNAc...) Probable
Glycosylation7031N-linked (GlcNAc...) Probable
Glycosylation11241N-linked (GlcNAc...) Ref.7
Disulfide bond763 ↔ 776 By similarity
Disulfide bond770 ↔ 786 By similarity
Disulfide bond788 ↔ 799 By similarity
Disulfide bond805 ↔ 818 By similarity
Disulfide bond812 ↔ 827 By similarity
Disulfide bond829 ↔ 842 By similarity
Disulfide bond852 ↔ 867 By similarity
Disulfide bond859 ↔ 877 By similarity
Disulfide bond879 ↔ 890 By similarity
Disulfide bond896 ↔ 907 By similarity
Disulfide bond901 ↔ 916 By similarity
Disulfide bond918 ↔ 929 By similarity
Disulfide bond940 ↔ 963 By similarity
Disulfide bond974 ↔ 981 By similarity
Disulfide bond983 ↔ 1005 By similarity
Disulfide bond1019 ↔ 1043 By similarity
Disulfide bond1054 ↔ 1061 By similarity
Disulfide bond1063 ↔ 1084 By similarity

Natural variations

Alternative sequence7 – 5953Missing in isoform 2.
VSP_038779
Alternative sequence844 – 89249LITPP…HQCTD → Y in isoform 2.
VSP_038780
Natural variant221P → Q. Ref.1 Ref.2 Ref.3 Ref.4
Corresponds to variant rs3920038 [ dbSNP | Ensembl ].
VAR_062850
Natural variant3131D → G.
Corresponds to variant rs17124969 [ dbSNP | Ensembl ].
VAR_055767
Natural variant3541P → H.
Corresponds to variant rs35657569 [ dbSNP | Ensembl ].
VAR_055768
Natural variant4531G → D. Ref.1
Corresponds to variant rs2101919 [ dbSNP | Ensembl ].
VAR_062851
Natural variant5291P → S.
Corresponds to variant rs17831525 [ dbSNP | Ensembl ].
VAR_055769
Natural variant6561S → P. Ref.1 Ref.2 Ref.3 Ref.4
Corresponds to variant rs3742536 [ dbSNP | Ensembl ].
VAR_062852
Natural variant7261V → M.
Corresponds to variant rs35147930 [ dbSNP | Ensembl ].
VAR_055770
Natural variant7601G → V. Ref.1 Ref.2 Ref.3 Ref.4
Corresponds to variant rs2273430 [ dbSNP | Ensembl ].
VAR_062853
Natural variant7751R → Q.
Corresponds to variant rs10134590 [ dbSNP | Ensembl ].
VAR_055771
Natural variant8301R → Q.
Corresponds to variant rs7144523 [ dbSNP | Ensembl ].
VAR_055772
Natural variant8661R → Q.
Corresponds to variant rs28507587 [ dbSNP | Ensembl ].
VAR_055773
Natural variant12381P → S in a breast cancer sample; somatic mutation. Ref.8
VAR_035836

Experimental info

Sequence conflict441G → W in BAA13087. Ref.2
Sequence conflict441G → W in BAA24112. Ref.3
Sequence conflict7001I → T in BAG62181. Ref.4
Sequence conflict12421N → D in BAF84341. Ref.4
Sequence conflict12451W → R in BAF84341. Ref.4
Sequence conflict12491N → D in BAF84341. Ref.4

Sequences

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

Last modified March 2, 2010. Version 3.
Checksum: 198D1F4E286A53E2

FASTA1,375151,254
        10         20         30         40         50         60 
MEGDRVAGRP VLSSLPVLLL LPLLMLRAAA LHPDELFPHG ESWGDQLLQE GDDESSAVVK 

        70         80         90        100        110        120 
LANPLHFYEA RFSNLYVGTN GIISTQDFPR ETQYVDYDFP TDFPAIAPFL ADIDTSHGRG 

       130        140        150        160        170        180 
RVLYREDTSP AVLGLAARYV RAGFPRSARF TPTHAFLATW EQVGAYEEVK RGALPSGELN 

       190        200        210        220        230        240 
TFQAVLASDG SDSYALFLYP ANGLQFLGTR PKESYNVQLQ LPARVGFCRG EADDLKSEGP 

       250        260        270        280        290        300 
YFSLTSTEQS VKNLYQLSNL GIPGVWAFHI GSTSPLDNVR PAAVGDLSAA HSSVPLGRSF 

       310        320        330        340        350        360 
SHATALESDY NEDNLDYYDV NEEEAEYLPG EPEEALNGHS SIDVSFQSKV DTKPLEESST 

       370        380        390        400        410        420 
LDPHTKEGTS LGEVGGPDLK GQVEPWDERE TRSPAPPEVD RDSLAPSWET PPPYPENGSI 

       430        440        450        460        470        480 
QPYPDGGPVP SEMDVPPAHP EEEIVLRSYP ASGHTTPLSR GTYEVGLEDN IGSNTEVFTY 

       490        500        510        520        530        540 
NAANKETCEH NHRQCSRHAF CTDYATGFCC HCQSKFYGNG KHCLPEGAPH RVNGKVSGHL 

       550        560        570        580        590        600 
HVGHTPVHFT DVDLHAYIVG NDGRAYTAIS HIPQPAAQAL LPLTPIGGLF GWLFALEKPG 

       610        620        630        640        650        660 
SENGFSLAGA AFTHDMEVTF YPGEETVRIT QTAEGLDPEN YLSIKTNIQG QVPYVSANFT 

       670        680        690        700        710        720 
AHISPYKELY HYSDSTVTST SSRDYSLTFG AINQTWSYRI HQNITYQVCR HAPRHPSFPT 

       730        740        750        760        770        780 
TQQLNVDRVF ALYNDEERVL RFAVTNQIGP VKEDSDPTPG NPCYDGSHMC DTTARCHPGT 

       790        800        810        820        830        840 
GVDYTCECAS GYQGDGRNCV DENECATGFH RCGPNSVCIN LPGSYRCECR SGYEFADDRH 

       850        860        870        880        890        900 
TCILITPPAN PCEDGSHTCA PAGQARCVHH GGSTFSCACL PGYAGDGHQC TDVDECSENR 

       910        920        930        940        950        960 
CHPAATCYNT PGSFSCRCQP GYYGDGFQCI PDSTSSLTPC EQQQRHAQAQ YAYPGARFHI 

       970        980        990       1000       1010       1020 
PQCDEQGNFL PLQCHGSTGF CWCVDPDGHE VPGTQTPPGS TPPHCGPSPE PTQRPPTICE 

      1030       1040       1050       1060       1070       1080 
RWRENLLEHY GGTPRDDQYV PQCDDLGHFI PLQCHGKSDF CWCVDKDGRE VQGTRSQPGT 

      1090       1100       1110       1120       1130       1140 
TPACIPTVAP PMVRPTPRPD VTPPSVGTFL LYTQGQQIGY LPLNGTRLQK DAAKTLLSLH 

      1150       1160       1170       1180       1190       1200 
GSIIVGIDYD CRERMVYWTD VAGRTISRAG LELGAEPETI VNSGLISPEG LAIDHIRRTM 

      1210       1220       1230       1240       1250       1260 
YWTDSVLDKI ESALLDGSER KVLFYTDLVN PRAIAVDPIR GNLYWTDWNR EAPKIETSSL 

      1270       1280       1290       1300       1310       1320 
DGENRRILIN TDIGLPNGLT FDPFSKLLCW ADAGTKKLEC TLPDGTGRRV IQNNLKYPFS 

      1330       1340       1350       1360       1370 
IVSYADHFYH TDWRRDGVVS VNKHSGQFTD EYLPEQRSHL YGITAVYPYC PTGRK 

« Hide

Isoform 2 [UniParc].

Checksum: C6E3D787DB40235B
Show »

FASTA1,274140,866

References

« Hide 'large scale' references
[1]"Nidogen-2: a new basement membrane protein with diverse binding properties."
Kohfeldt E., Sasaki T., Goehring W., Timpl R.
J. Mol. Biol. 282:99-109(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), PROTEIN SEQUENCE OF N-TERMINUS, VARIANTS GLN-22; ASP-453; PRO-656 AND VAL-760.
[2]"The cloning and characterization of a cDNA for the novel bone matrix protein: osteonidogen."
Ohno I., Hashimoto J., Takaoka K., Ochi T., Okubo K., Matsubara K.
Submitted (JUL-1996) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS GLN-22; PRO-656 AND VAL-760.
Tissue: Cancellous bone.
[3]"Human osteonidogen gene: intron-exon junctions and chromosomal localization."
Ohno I., Okubo K., Matsubara K.
Submitted (JAN-1998) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1), VARIANTS GLN-22; PRO-656 AND VAL-760.
[4]"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] (ISOFORMS 1 AND 2), VARIANTS GLN-22; PRO-656; VAL-760 AND VAL-760.
Tissue: Placenta.
[5]"The DNA sequence and analysis of human chromosome 14."
Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H. expand/collapse author list , Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J.
Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"The type XIII collagen ectodomain is a 150-nm rod and capable of binding to fibronectin, nidogen-2, perlecan, and heparin."
Tu H., Sasaki T., Snellman A., Gohring W., Pirila P., Timpl R., Pihlajaniemi T.
J. Biol. Chem. 277:23092-23099(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH COL13A1.
[7]"Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.
J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-1124.
Tissue: Liver.
[8]"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] SER-1238.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AJ223500 mRNA. Translation: CAA11418.1.
D86425 mRNA. Translation: BAA13087.1. Frameshift.
AB009799 Genomic DNA. Translation: BAA24112.1. Frameshift.
AK300462 mRNA. Translation: BAG62181.1.
AK291652 mRNA. Translation: BAF84341.1.
CCDSCCDS9706.1. [Q14112-1]
PIRG00043.
RefSeqNP_031387.3. NM_007361.3. [Q14112-1]
UniGeneHs.369840.

3D structure databases

ProteinModelPortalQ14112.
SMRQ14112. Positions 487-752, 769-996, 1107-1370.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid116476. 8 interactions.
IntActQ14112. 2 interactions.
MINTMINT-1183597.
STRING9606.ENSP00000216286.

Protein family/group databases

MEROPSI63.001.

PTM databases

PhosphoSiteQ14112.

Polymorphism databases

DMDM290457669.

Proteomic databases

MaxQBQ14112.
PaxDbQ14112.
PRIDEQ14112.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000216286; ENSP00000216286; ENSG00000087303. [Q14112-1]
ENST00000541773; ENSP00000443730; ENSG00000087303. [Q14112-2]
GeneID22795.
KEGGhsa:22795.
UCSCuc001wzo.3. human. [Q14112-1]
uc010tqs.2. human. [Q14112-2]

Organism-specific databases

CTD22795.
GeneCardsGC14M052471.
H-InvDBHIX0026668.
HGNCHGNC:13389. NID2.
HPAHPA052460.
MIM605399. gene.
neXtProtNX_Q14112.
PharmGKBPA31626.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG282695.
HOGENOMHOG000072712.
HOVERGENHBG006498.
InParanoidQ14112.
KOK06826.
OMAARVGFCR.
OrthoDBEOG7M0NQN.
PhylomeDBQ14112.
TreeFamTF320666.

Enzyme and pathway databases

ReactomeREACT_118779. Extracellular matrix organization.

Gene expression databases

ArrayExpressQ14112.
BgeeQ14112.
CleanExHS_NID2.
GenevestigatorQ14112.

Family and domain databases

Gene3D2.120.10.30. 1 hit.
2.40.155.10. 2 hits.
4.10.800.10. 2 hits.
InterProIPR011042. 6-blade_b-propeller_TolB-like.
IPR026823. cEGF.
IPR000742. EG-like_dom.
IPR001881. EGF-like_Ca-bd_dom.
IPR013032. EGF-like_CS.
IPR000152. EGF-type_Asp/Asn_hydroxyl_site.
IPR018097. EGF_Ca-bd_CS.
IPR024731. EGF_dom_MSP1-like.
IPR006605. G2_nidogen/fibulin_G2F.
IPR009017. GFP.
IPR023413. GFP_like.
IPR009030. Growth_fac_rcpt_N_dom.
IPR000033. LDLR_classB_rpt.
IPR003886. Nidogen_extracell_dom.
IPR000716. Thyroglobulin_1.
[Graphical view]
PfamPF12662. cEGF. 1 hit.
PF12947. EGF_3. 1 hit.
PF07645. EGF_CA. 1 hit.
PF07474. G2F. 1 hit.
PF00058. Ldl_recept_b. 2 hits.
PF06119. NIDO. 1 hit.
PF00086. Thyroglobulin_1. 2 hits.
[Graphical view]
SMARTSM00181. EGF. 3 hits.
SM00179. EGF_CA. 2 hits.
SM00682. G2F. 1 hit.
SM00135. LY. 5 hits.
SM00539. NIDO. 1 hit.
SM00211. TY. 2 hits.
[Graphical view]
SUPFAMSSF54511. SSF54511. 1 hit.
SSF57184. SSF57184. 2 hits.
SSF57610. SSF57610. 2 hits.
PROSITEPS00010. ASX_HYDROXYL. 3 hits.
PS01186. EGF_2. 4 hits.
PS50026. EGF_3. 4 hits.
PS01187. EGF_CA. 2 hits.
PS51120. LDLRB. 4 hits.
PS51220. NIDO. 1 hit.
PS50993. NIDOGEN_G2. 1 hit.
PS00484. THYROGLOBULIN_1_1. 2 hits.
PS51162. THYROGLOBULIN_1_2. 2 hits.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSNID2. human.
GeneWikiNID2.
GenomeRNAi22795.
NextBio43128.
PROQ14112.
SOURCESearch...

Entry information

Entry nameNID2_HUMAN
AccessionPrimary (citable) accession number: Q14112
Secondary accession number(s): A8K6I7, B4DU19, O43710
Entry history
Integrated into UniProtKB/Swiss-Prot: December 15, 1998
Last sequence update: March 2, 2010
Last modified: July 9, 2014
This is version 141 of the entry and version 3 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 14

Human chromosome 14: entries, gene names and cross-references to MIM