UniProtKB - Q6ZU64 (CFA65_HUMAN)
Protein
Cilia- and flagella-associated protein 65
Gene
CFAP65
Organism
Homo sapiens (Human)
Status
Functioni
Plays a role in flagellar formation and sperm motility.By similarity
GO - Molecular functioni
- RNA binding Source: UniProtKB
GO - Biological processi
- flagellated sperm motility Source: UniProtKB
- sperm axoneme assembly Source: UniProtKB
Keywordsi
Biological process | Cilium biogenesis/degradation |
Enzyme and pathway databases
PathwayCommonsi | Q6ZU64 |
Names & Taxonomyi
Protein namesi | Recommended name: Cilia- and flagella-associated protein 65CuratedAlternative name(s): Coiled-coil domain-containing protein 108Imported |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000181378.13 |
HGNCi | HGNC:25325, CFAP65 |
MIMi | 614270, gene |
neXtProti | NX_Q6ZU64 |
Subcellular locationi
Plasma membrane
- flagellum membrane By similarity; Single-pass membrane protein Curated
Other locations
- acrosome membrane 1 Publication; Single-pass type I membrane protein Sequence analysis
- Cytoplasm 1 Publication
Note: Expressed in flagella midpiece and acrosome of mature spermatozoa.1 Publication
Plasma Membrane
- plasma membrane Source: UniProtKB-KW
Other locations
- acrosomal membrane Source: UniProtKB-SubCell
- acrosomal vesicle Source: UniProtKB
- cytoplasm Source: UniProtKB
- integral component of membrane Source: UniProtKB-KW
- sperm flagellum Source: UniProtKB
- sperm midpiece Source: UniProtKB
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transmembranei | 188 – 208 | HelicalSequence analysisAdd BLAST | 21 |
Keywords - Cellular componenti
Cell membrane, Cell projection, Cilium, Cytoplasm, Cytoplasmic vesicle, Flagellum, MembranePathology & Biotechi
Involvement in diseasei
Spermatogenic failure 40 (SPGF40)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive infertility disorder characterized by severely reduced or absent sperm motility, due to multiple morphologic anomalies such as absent, short, bent, coiled and irregular-caliber tails. Patient spermatozoa may also show morphologic defects of the sperm head.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_083169 | 762 – 1925 | Missing in SPGF40. 1 PublicationAdd BLAST | 1164 | |
Natural variantiVAR_083170 | 892 – 1925 | Missing in SPGF40. 1 PublicationAdd BLAST | 1034 | |
Natural variantiVAR_083171 | 1007 | N → K in SPGF40; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_083172 | 1016 | L → R in SPGF40; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_083173 | 1619 – 1925 | Missing in SPGF40. 1 PublicationAdd BLAST | 307 | |
Natural variantiVAR_083174 | 1757 – 1925 | Missing in SPGF40. 1 PublicationAdd BLAST | 169 | |
Natural variantiVAR_080903 | 1781 – 1925 | Missing in SPGF40. 3 PublicationsAdd BLAST | 145 |
Keywords - Diseasei
Disease mutationOrganism-specific databases
DisGeNETi | 255101 |
MalaCardsi | CFAP65 |
MIMi | 618664, phenotype |
OpenTargetsi | ENSG00000181378 |
Orphaneti | 276234, Non-syndromic male infertility due to sperm motility disorder |
PharmGKBi | PA145008681 |
Miscellaneous databases
Pharosi | Q6ZU64, Tdark |
Polymorphism and mutation databases
BioMutai | CFAP65 |
DMDMi | 148841209 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000288805 | 1 – 1925 | Cilia- and flagella-associated protein 65Add BLAST | 1925 |
Proteomic databases
EPDi | Q6ZU64 |
MassIVEi | Q6ZU64 |
PaxDbi | Q6ZU64 |
PeptideAtlasi | Q6ZU64 |
PRIDEi | Q6ZU64 |
ProteomicsDBi | 19496 20228 20258 68312 [Q6ZU64-1] |
PTM databases
iPTMneti | Q6ZU64 |
PhosphoSitePlusi | Q6ZU64 |
Expressioni
Gene expression databases
Bgeei | ENSG00000181378, Expressed in right uterine tube and 99 other tissues |
ExpressionAtlasi | Q6ZU64, baseline and differential |
Genevisiblei | Q6ZU64, HS |
Organism-specific databases
HPAi | ENSG00000181378, Tissue enhanced (brain, fallopian tube, testis) |
Interactioni
Binary interactionsi
Isoform 2 [Q6ZU64-3]
With | #Exp. | IntAct |
---|---|---|
CCNDBP1 [O95273] | 3 | EBI-10255250,EBI-748961 |
Protein-protein interaction databases
BioGRIDi | 129075, 2 interactors |
IntActi | Q6ZU64, 3 interactors |
STRINGi | 9606.ENSP00000340776 |
Miscellaneous databases
RNActi | Q6ZU64, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 877 – 986 | MSPPROSITE-ProRule annotationAdd BLAST | 110 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 1525 – 1550 | Sequence analysisAdd BLAST | 26 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 1761 – 1848 | Glu-richAdd BLAST | 88 |
Sequence similaritiesi
Belongs to the CFAP65 family.Curated
Keywords - Domaini
Coiled coil, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | ENOG502QSJW, Eukaryota |
GeneTreei | ENSGT00430000031142 |
HOGENOMi | CLU_000944_1_0_1 |
InParanoidi | Q6ZU64 |
OMAi | TICLTAC |
OrthoDBi | 1127899at2759 |
PhylomeDBi | Q6ZU64 |
TreeFami | TF329056 |
Family and domain databases
Gene3Di | 2.60.40.10, 7 hits |
InterProi | View protein in InterPro IPR013783, Ig-like_fold IPR000535, MSP_dom |
PROSITEi | View protein in PROSITE PS50202, MSP, 1 hit |
s (4+)i Sequence
Sequence statusi: Complete.
This entry describes 4 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 4 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q6ZU64-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MFTLTGCRLV EKTQKVENPS VSFASSFPLI PLLLRGKSVQ KKQAESKSQI
60 70 80 90 100
KLHTQSAPFG LCPKDMMLTQ APSSVVRSRN SRNHTVNSGG SCLSASTVAI
110 120 130 140 150
PAINDSSAAM SACSTISAQP ASSMDTQMHS PKKQERVNKR VIWGIEVAEE
160 170 180 190 200
LHWKGWELGK ETTRNLVLKN RSLKLQKMKY RPPKTKFFFT VIPQPIFLSP
210 220 230 240 250
GITLTLPIVF RPLEAKEYMD QLWFEKAEGM FCVGLRATLP CHRLICRPPS
260 270 280 290 300
LQLPMCAVGD TTEAFFCLDN VGDLPTFFTW EFSSPFQMLP ATGLLEPGQA
310 320 330 340 350
SQIKVTFQPL TAVIYEVQAT CWYGAGSRQR SSIQLQAVAK CAQLLVSIKH
360 370 380 390 400
KCPEDQDAEG FQKLLYFGSV AVGCTSERQI RLHNPSAVNA PFRIEISPDE
410 420 430 440 450
LAEDQAFSCP TAHGIVLPGE KKCVSVFFHP KTLDTRTVDY CSIMPSGCAS
460 470 480 490 500
KTLLKVVGFC RGPAVSLQHY CVNFSWVNLG ERSEQPLWIE NQSDCTAHFQ
510 520 530 540 550
FAIDCLESVF TIRPAFGTLV GKARMTLHCA FQPTHPIICF RRVACLIHHQ
560 570 580 590 600
DPLFLDLMGT CHSDSTKPAI LKPQHLTWYR THLARGLTLY PPDILDAMLK
610 620 630 640 650
EKKLAQDQNG ALMIPIQDLE DMPAPQYPYI PPMTEFFFDG TSDITIFPPP
660 670 680 690 700
ISVEPVEVDF GACPGPEAPN PVPLCLMNHT KGKIMVVWTR RSDCPFWVTP
710 720 730 740 750
ESCDVPPLKS MAMRLHFQPP HPNCLYTVEL EAFAIYKVLQ SYSNIEEDCT
760 770 780 790 800
MCPSWCLTVR ARGHSYFAGF EHHIPQYSLD VPKLFPAVSS GEPTYRSLLL
810 820 830 840 850
VNKDCKLLTF SLAPQRGSDV ILRPTSGLVA PGAHQIILIC TYPEGSSWKQ
860 870 880 890 900
HTFYLQCNAS PQYLKEVSMY SREEPLQLKL DTHKSLYFKP TWVGCSSTSP
910 920 930 940 950
FTFRNPSRLP LQFEWRVSEQ HRKLLAVQPS RGLIQPNERL TLTWTFSPLE
960 970 980 990 1000
ETKYLFQVGM WVWEAGLSPN ANPAATTHYM LRLVGVGLTS SLSAKEKELA
1010 1020 1030 1040 1050
FGNVLVNSKQ SRFLVLLNDG NCTLYYRLYL EQGSPEAVDN HPLALQLDRT
1060 1070 1080 1090 1100
EGSMPPRSQD TICLTACPKQ RSQYSWTITY SLLSHRDNKA GEKQELCCVS
1110 1120 1130 1140 1150
LVAVYPLLSI LDVSSMGSAE GITRKHLWRL FSLDLLNSYL ERDPTPCELT
1160 1170 1180 1190 1200
YKVPTRHSMS QIPPVLTPLR LDFNFGAAPF KAPPSVVFLA LKNSGVVSLD
1210 1220 1230 1240 1250
WAFLLPSDQR IDVELWAEQA ELNSTELHQM RVQDNCLFSI SPKAGSLSPG
1260 1270 1280 1290 1300
QEQMVELKYS HLFIGTDHLP VLFKVSHGRE ILLNFIGVTV KPEQKYVHFT
1310 1320 1330 1340 1350
STTHQFIPIP IGDTLPPRQI YELYNGGSVP VTYEVQTDVL SQVQEKNFDH
1360 1370 1380 1390 1400
PIFCCLNPKG EIQPGSTARV LWIFSPIEAK TYTVDVPIHI LGWNSALIHF
1410 1420 1430 1440 1450
QGVGYNPHMM GDTAPFHNIS SWDNSSIHSR LVVPGQNVFL SQSHISLGNI
1460 1470 1480 1490 1500
PVQSKCSRLL FLNNISKNEE IAFSWQPSPL DFGEVSVSPM IGVVAPEETV
1510 1520 1530 1540 1550
PFVVTLRASV HASFYSADLV CKLYSQQLMR QYHKELQEWK DEKVRQEVEF
1560 1570 1580 1590 1600
TITDMKVKKR TCCTACEPAR KYKTLPPIKN QQSVSRPASW KLQTPKEEVS
1610 1620 1630 1640 1650
WPCPQPPSPG MLCLGLTARA HATDYFLANF FSEFPCHFLH RELPKRKAPR
1660 1670 1680 1690 1700
EESETSEEKS PNKWGPVSKQ KKQLLVDILT TIIRGLLEDK NFHEAVDQSL
1710 1720 1730 1740 1750
VEQVPYFRQF WNEQSTKFMD QKNSLYLMPI LPVPSSSWED GKGKQPKEDR
1760 1770 1780 1790 1800
PEHYPGLGKK EEGEEEKGEE EEEELEEEEE EEEETEEEEL GKEEIEEKEE
1810 1820 1830 1840 1850
ERDEKEEKVS WAGIGPTPQP ESQESMQWQW QQQLNVMVKE EQEQDEKEAI
1860 1870 1880 1890 1900
RRLPAFANLQ EALLENMIQN ILVEASRGEV VLTSRPRVIA LPPFCVPRSL
1910 1920
TPDTLLPTQQ AEVLHPVVPL PTDLP
Computationally mapped potential isoform sequencesi
There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketC9JVA0 | C9JVA0_HUMAN | Cilia- and flagella-associated prot... | CFAP65 | 234 | Annotation score: | ||
Q49A14 | Q49A14_HUMAN | CCDC108 protein | CFAP65 CCDC108 | 271 | Annotation score: | ||
C9JIV0 | C9JIV0_HUMAN | Cilia- and flagella-associated prot... | CFAP65 | 117 | Annotation score: | ||
C9JLP9 | C9JLP9_HUMAN | Cilia- and flagella-associated prot... | CFAP65 | 114 | Annotation score: | ||
H7C0B4 | H7C0B4_HUMAN | Cilia- and flagella-associated prot... | CFAP65 | 127 | Annotation score: |
Sequence cautioni
The sequence BAC86362 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 129 | H → R in BAC86878 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 320 | T → A in BAC86878 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 665 | G → W in BAC86878 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_032500 | 66 | M → L2 PublicationsCorresponds to variant dbSNP:rs6736922Ensembl. | 1 | |
Natural variantiVAR_083656 | 639 | D → E1 Publication | 1 | |
Natural variantiVAR_050726 | 672 | V → I. Corresponds to variant dbSNP:rs13403802Ensembl. | 1 | |
Natural variantiVAR_083169 | 762 – 1925 | Missing in SPGF40. 1 PublicationAdd BLAST | 1164 | |
Natural variantiVAR_050727 | 806 | K → M. Corresponds to variant dbSNP:rs9653262Ensembl. | 1 | |
Natural variantiVAR_083170 | 892 – 1925 | Missing in SPGF40. 1 PublicationAdd BLAST | 1034 | |
Natural variantiVAR_083171 | 1007 | N → K in SPGF40; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_083172 | 1016 | L → R in SPGF40; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_083657 | 1240 | I → F1 Publication | 1 | |
Natural variantiVAR_083173 | 1619 – 1925 | Missing in SPGF40. 1 PublicationAdd BLAST | 307 | |
Natural variantiVAR_083174 | 1757 – 1925 | Missing in SPGF40. 1 PublicationAdd BLAST | 169 | |
Natural variantiVAR_080903 | 1781 – 1925 | Missing in SPGF40. 3 PublicationsAdd BLAST | 145 | |
Natural variantiVAR_050728 | 1858 | N → S. Corresponds to variant dbSNP:rs11893183Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_045221 | 1 – 65 | Missing in isoform 2 and isoform 3. 1 PublicationAdd BLAST | 65 | |
Alternative sequenceiVSP_055631 | 1 – 34 | MFTLT…IPLLL → METAIWRRSYISLISSERPV HNW in isoform 4. CuratedAdd BLAST | 34 | |
Alternative sequenceiVSP_045222 | 182 – 229 | PPKTK…EKAEG → YQYKGSRTQCHSLEPRKQAL FKTKQNKQKKPLTCHIKASE CLKYVQYE in isoform 2. 1 PublicationAdd BLAST | 48 | |
Alternative sequenceiVSP_045223 | 230 – 1925 | Missing in isoform 2. 1 PublicationAdd BLAST | 1696 | |
Alternative sequenceiVSP_055632 | 739 – 795 | LQSYS…GEPTY → CARNEREECGVSARSLSGLV GWQEVTEGSFRLHPLRARLS LGWTVTPMSLSPPKLLA in isoform 3 and isoform 4. CuratedAdd BLAST | 57 | |
Alternative sequenceiVSP_055633 | 796 – 1925 | Missing in isoform 3 and isoform 4. CuratedAdd BLAST | 1130 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK125957 mRNA Translation: BAC86362.1 Different initiation. AK127189 mRNA Translation: BAC86878.1 Sequence problems. AC097468 Genomic DNA No translation available. BC031585 mRNA Translation: AAH31585.1 BC130281 mRNA Translation: AAI30282.1 AL833882 mRNA Translation: CAD38738.1 |
CCDSi | CCDS2430.2 [Q6ZU64-1] CCDS2431.2 [Q6ZU64-3] CCDS63125.1 [Q6ZU64-4] CCDS63126.1 [Q6ZU64-5] |
RefSeqi | NP_689602.2, NM_152389.3 [Q6ZU64-3] NP_919278.2, NM_194302.3 [Q6ZU64-1] |
Genome annotation databases
Ensembli | ENST00000295729; ENSP00000295729; ENSG00000181378 [Q6ZU64-3] ENST00000341552; ENSP00000340776; ENSG00000181378 [Q6ZU64-1] ENST00000409865; ENSP00000386945; ENSG00000181378 [Q6ZU64-5] ENST00000410037; ENSP00000386258; ENSG00000181378 [Q6ZU64-4] ENST00000453220; ENSP00000409117; ENSG00000181378 [Q6ZU64-1] |
GeneIDi | 255101 |
KEGGi | hsa:255101 |
UCSCi | uc002vjl.3, human [Q6ZU64-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK125957 mRNA Translation: BAC86362.1 Different initiation. AK127189 mRNA Translation: BAC86878.1 Sequence problems. AC097468 Genomic DNA No translation available. BC031585 mRNA Translation: AAH31585.1 BC130281 mRNA Translation: AAI30282.1 AL833882 mRNA Translation: CAD38738.1 |
CCDSi | CCDS2430.2 [Q6ZU64-1] CCDS2431.2 [Q6ZU64-3] CCDS63125.1 [Q6ZU64-4] CCDS63126.1 [Q6ZU64-5] |
RefSeqi | NP_689602.2, NM_152389.3 [Q6ZU64-3] NP_919278.2, NM_194302.3 [Q6ZU64-1] |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 129075, 2 interactors |
IntActi | Q6ZU64, 3 interactors |
STRINGi | 9606.ENSP00000340776 |
PTM databases
iPTMneti | Q6ZU64 |
PhosphoSitePlusi | Q6ZU64 |
Polymorphism and mutation databases
BioMutai | CFAP65 |
DMDMi | 148841209 |
Proteomic databases
EPDi | Q6ZU64 |
MassIVEi | Q6ZU64 |
PaxDbi | Q6ZU64 |
PeptideAtlasi | Q6ZU64 |
PRIDEi | Q6ZU64 |
ProteomicsDBi | 19496 20228 20258 68312 [Q6ZU64-1] |
Protocols and materials databases
Antibodypediai | 34298, 37 antibodies |
DNASUi | 255101 |
Genome annotation databases
Ensembli | ENST00000295729; ENSP00000295729; ENSG00000181378 [Q6ZU64-3] ENST00000341552; ENSP00000340776; ENSG00000181378 [Q6ZU64-1] ENST00000409865; ENSP00000386945; ENSG00000181378 [Q6ZU64-5] ENST00000410037; ENSP00000386258; ENSG00000181378 [Q6ZU64-4] ENST00000453220; ENSP00000409117; ENSG00000181378 [Q6ZU64-1] |
GeneIDi | 255101 |
KEGGi | hsa:255101 |
UCSCi | uc002vjl.3, human [Q6ZU64-1] |
Organism-specific databases
CTDi | 255101 |
DisGeNETi | 255101 |
EuPathDBi | HostDB:ENSG00000181378.13 |
GeneCardsi | CFAP65 |
HGNCi | HGNC:25325, CFAP65 |
HPAi | ENSG00000181378, Tissue enhanced (brain, fallopian tube, testis) |
MalaCardsi | CFAP65 |
MIMi | 614270, gene 618664, phenotype |
neXtProti | NX_Q6ZU64 |
OpenTargetsi | ENSG00000181378 |
Orphaneti | 276234, Non-syndromic male infertility due to sperm motility disorder |
PharmGKBi | PA145008681 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QSJW, Eukaryota |
GeneTreei | ENSGT00430000031142 |
HOGENOMi | CLU_000944_1_0_1 |
InParanoidi | Q6ZU64 |
OMAi | TICLTAC |
OrthoDBi | 1127899at2759 |
PhylomeDBi | Q6ZU64 |
TreeFami | TF329056 |
Enzyme and pathway databases
PathwayCommonsi | Q6ZU64 |
Miscellaneous databases
BioGRID-ORCSi | 255101, 2 hits in 848 CRISPR screens |
ChiTaRSi | CFAP65, human |
GenomeRNAii | 255101 |
Pharosi | Q6ZU64, Tdark |
PROi | PR:Q6ZU64 |
RNActi | Q6ZU64, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000181378, Expressed in right uterine tube and 99 other tissues |
ExpressionAtlasi | Q6ZU64, baseline and differential |
Genevisiblei | Q6ZU64, HS |
Family and domain databases
Gene3Di | 2.60.40.10, 7 hits |
InterProi | View protein in InterPro IPR013783, Ig-like_fold IPR000535, MSP_dom |
PROSITEi | View protein in PROSITE PS50202, MSP, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | CFA65_HUMAN | |
Accessioni | Q6ZU64Primary (citable) accession number: Q6ZU64 Secondary accession number(s): A2BDD8 Q8NDJ3 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | May 29, 2007 |
Last sequence update: | May 29, 2007 | |
Last modified: | December 2, 2020 | |
This is version 129 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human chromosome 2
Human chromosome 2: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations