UniProtKB - O95248 (MTMR5_HUMAN)
Protein
Myotubularin-related protein 5
Gene
SBF1
Organism
Homo sapiens (Human)
Status
Functioni
Acts as an adapter for the phosphatase MTMR2 to regulate MTMR2 catalytic activity and subcellular location (PubMed:12668758). May function as a guanine nucleotide exchange factor (GEF) activating RAB28 (PubMed:20937701). Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form (PubMed:20937701). Inhibits myoblast differentiation in vitro and induces oncogenic transformation in fibroblasts (PubMed:9537414).3 Publications
Caution
Although it belongs to the non-receptor class myotubularin subfamily, lacks the conserved active site cysteine residue at position 1422 in the dsPTPase catalytic loop and does not have phosphatase activity (PubMed:9537414). The pocket is however sufficiently preserved to bind phosphorylated substrates, and maybe protect them from phosphatases.Curated1 Publication
GO - Molecular functioni
- phosphatase regulator activity Source: InterPro
- protein tyrosine/serine/threonine phosphatase activity Source: UniProtKB
- Rab guanyl-nucleotide exchange factor activity Source: UniProtKB
GO - Biological processi
- phosphatidylinositol biosynthetic process Source: Reactome
- protein dephosphorylation Source: UniProtKB
- regulation of GTPase activity Source: InterPro
- spermatogenesis Source: Ensembl
Keywordsi
Molecular function | Guanine-nucleotide releasing factor |
Enzyme and pathway databases
BRENDAi | 3.1.3.16 2681 |
Reactomei | R-HSA-1483248 Synthesis of PIPs at the ER membrane R-HSA-8876198 RAB GEFs exchange GTP for GDP on RABs |
Names & Taxonomyi
Protein namesi | Recommended name: Myotubularin-related protein 5Alternative name(s): Inactive phosphatidylinositol 3-phosphatase 5Curated SET-binding factor 1 Short name: Sbf1 |
Gene namesi | Name:SBF1 Synonyms:MTMR5 |
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:ENSG00000100241.20 |
HGNCi | HGNC:10542 SBF1 |
MIMi | 603560 gene |
neXtProti | NX_O95248 |
Subcellular locationi
Other locations
- Cytoplasm 2 Publications
- perinuclear region 1 Publication
Cytosol
- cytosol Source: Reactome
Endoplasmic reticulum
- endoplasmic reticulum membrane Source: Reactome
Nucleus
- nuclear body Source: HPA
Other locations
- cytoplasm Source: UniProtKB
- integral component of membrane Source: UniProtKB
Keywords - Cellular componenti
CytoplasmPathology & Biotechi
Involvement in diseasei
Charcot-Marie-Tooth disease 4B3 (CMT4B3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4.
See also OMIM:615284Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_070046 | 418 | M → V in CMT4B3. 1 PublicationCorresponds to variant dbSNP:rs587776986Ensembl. | 1 | |
Natural variantiVAR_070047 | 1565 | T → A in CMT4B3. 1 PublicationCorresponds to variant dbSNP:rs200488568Ensembl. | 1 |
Keywords - Diseasei
Charcot-Marie-Tooth disease, Disease mutation, Neurodegeneration, NeuropathyOrganism-specific databases
DisGeNETi | 6305 |
GeneReviewsi | SBF1 |
MalaCardsi | SBF1 |
MIMi | 615284 phenotype |
OpenTargetsi | ENSG00000100241 |
Orphaneti | 363981 Charcot-Marie-Tooth disease type 4B3 |
PharmGKBi | PA34953 |
Polymorphism and mutation databases
BioMutai | SBF1 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000094938 | 1 – 1868 | Myotubularin-related protein 5Add BLAST | 1868 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 1121 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1138 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 1223 | N6-methyllysineCombined sources | 1 | |
Modified residuei | 1747 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
Methylation, PhosphoproteinProteomic databases
EPDi | O95248 |
jPOSTi | O95248 |
MaxQBi | O95248 |
PaxDbi | O95248 |
PeptideAtlasi | O95248 |
PRIDEi | O95248 |
ProteomicsDBi | 50743 50744 [O95248-4] |
PTM databases
DEPODi | O95248 |
iPTMneti | O95248 |
PhosphoSitePlusi | O95248 |
Expressioni
Gene expression databases
Bgeei | ENSG00000100241 Expressed in 214 organ(s), highest expression level in testis |
ExpressionAtlasi | O95248 baseline and differential |
Genevisiblei | O95248 HS |
Organism-specific databases
HPAi | HPA074004 |
Interactioni
Subunit structurei
Heterodimer with lipid phosphatase MTMR2 (PubMed:12668758). Interacts with KMT2A/MLL1 (via SET domain) (PubMed:9537414). Interacts with SUV39H1 (PubMed:10848615).3 Publications
GO - Molecular functioni
- Rab guanyl-nucleotide exchange factor activity Source: UniProtKB
Protein-protein interaction databases
BioGridi | 112212, 50 interactors |
IntActi | O95248, 8 interactors |
MINTi | O95248 |
STRINGi | 9606.ENSP00000370196 |
Structurei
3D structure databases
ProteinModelPortali | O95248 |
SMRi | O95248 |
ModBasei | Search... |
MobiDBi | Search... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 7 – 185 | uDENNPROSITE-ProRule annotationAdd BLAST | 179 | |
Domaini | 204 – 337 | cDENNPROSITE-ProRule annotationAdd BLAST | 134 | |
Domaini | 339 – 440 | dDENNPROSITE-ProRule annotationAdd BLAST | 102 | |
Domaini | 881 – 969 | GRAMSequence analysisAdd BLAST | 89 | |
Domaini | 1121 – 1597 | Myotubularin phosphatasePROSITE-ProRule annotationAdd BLAST | 477 | |
Domaini | 1762 – 1866 | PHPROSITE-ProRule annotationAdd BLAST | 105 |
Domaini
The C-terminal domain mediates interaction with MTMR2.1 Publication
Sequence similaritiesi
Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily.Curated
Phylogenomic databases
eggNOGi | KOG1090 Eukaryota KOG2080 Eukaryota ENOG410XTJ1 LUCA |
GeneTreei | ENSGT00940000155263 |
HOVERGENi | HBG052527 |
InParanoidi | O95248 |
KOi | K18061 |
OMAi | DQATAKM |
OrthoDBi | 45015at2759 |
PhylomeDBi | O95248 |
TreeFami | TF318583 |
Family and domain databases
Gene3Di | 2.30.29.30, 1 hit |
InterProi | View protein in InterPro IPR001194 cDENN_dom IPR005112 dDENN_dom IPR004182 GRAM IPR030574 MTMR5 IPR010569 Myotubularin-like_Pase_dom IPR030564 Myotubularin_fam IPR011993 PH-like_dom_sf IPR001849 PH_domain IPR029021 Prot-tyrosine_phosphatase-like IPR022096 SBF1/SBF2 IPR037516 Tripartite_DENN IPR005113 uDENN_dom |
PANTHERi | PTHR10807 PTHR10807, 1 hit PTHR10807:SF43 PTHR10807:SF43, 1 hit |
Pfami | View protein in Pfam PF02141 DENN, 1 hit PF02893 GRAM, 1 hit PF06602 Myotub-related, 1 hit PF00169 PH, 1 hit PF12335 SBF2, 1 hit PF03456 uDENN, 1 hit |
SMARTi | View protein in SMART SM00801 dDENN, 1 hit SM00799 DENN, 1 hit SM00568 GRAM, 1 hit SM00233 PH, 1 hit SM00800 uDENN, 1 hit |
SUPFAMi | SSF52799 SSF52799, 1 hit |
PROSITEi | View protein in PROSITE PS50211 DENN, 1 hit PS50003 PH_DOMAIN, 1 hit PS51339 PPASE_MYOTUBULARIN, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
Isoform 1 (identifier: O95248-1) [UniParc]FASTAAdd to basket
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.
10 20 30 40 50
MARLADYFVL VAFGPHPRGS GEGQGQILQR FPEKDWEDNP FPQGIELFCQ
60 70 80 90 100
PSGWQLCPER NPPTFFVAVL TDINSERHYC ACLTFWEPAE PSQQETTRVE
110 120 130 140 150
DATEREEEGD EGGQTHLSPT APAPSAQLFA PKTLVLVSRL DHTEVFRNSL
160 170 180 190 200
GLIYAIHVEG LNVCLENVIG NLLTCTVPLA GGSQRTISLG AGDRQVIQTP
210 220 230 240 250
LADSLPVSRC SVALLFRQLG ITNVLSLFCA ALTEHKVLFL SRSYQRLADA
260 270 280 290 300
CRGLLALLFP LRYSFTYVPI LPAQLLEVLS TPTPFIIGVN AAFQAETQEL
310 320 330 340 350
LDVIVADLDG GTVTIPECVH IPPLPEPLQS QTHSVLSMVL DPELELADLA
360 370 380 390 400
FPPPTTSTSS LKMQDKELRA VFLRLFAQLL QGYRWCLHVV RIHPEPVIRF
410 420 430 440 450
HKAAFLGQRG LVEDDFLMKV LEGMAFAGFV SERGVPYRPT DLFDELVAHE
460 470 480 490 500
VARMRADENH PQRVLRHVQE LAEQLYKNEN PYPAVAMHKV QRPGESSHLR
510 520 530 540 550
RVPRPFPRLD EGTVQWIVDQ AAAKMQGAPP AVKAERRTTV PSGPPMTAIL
560 570 580 590 600
ERCSGLHVNS ARRLEVVRNC ISYVFEGKML EAKKLLPAVL RALKGRAARR
610 620 630 640 650
CLAQELHLHV QQNRAVLDHQ QFDFVVRMMN CCLQDCTSLD EHGIAAALLP
660 670 680 690 700
LVTAFCRKLS PGVTQFAYSC VQEHVVWSTP QFWEAMFYGD VQTHIRALYL
710 720 730 740 750
EPTEDLAPAQ EVGEAPSQED ERSALDVASE QRRLWPTLSR EKQQELVQKE
760 770 780 790 800
ESTVFSQAIH YANRMSYLLL PLDSSKSRLL RERAGLGDLE SASNSLVTNS
810 820 830 840 850
MAGSVAESYD TESGFEDAET CDVAGAVVRF INRFVDKVCT ESGVTSDHLK
860 870 880 890 900
GLHVMVPDIV QMHIETLEAV QRESRRLPPI QKPKLLRPRL LPGEECVLDG
910 920 930 940 950
LRVYLLPDGR EEGAGGSAGG PALLPAEGAV FLTTYRVIFT GMPTDPLVGE
960 970 980 990 1000
QVVVRSFPVA ALTKEKRISV QTPVDQLLQD GLQLRSCTFQ LLKMAFDEEV
1010 1020 1030 1040 1050
GSDSAELFRK QLHKLRYPPD IRATFAFTLG SAHTPGRPPR VTKDKGPSLR
1060 1070 1080 1090 1100
TLSRNLVKNA KKTIGRQHVT RKKYNPPSWE HRGQPPPEDQ EDEISVSEEL
1110 1120 1130 1140 1150
EPSTLTPSSA LKPSDRMTMS SLVERACCRD YQRLGLGTLS SSLSRAKSEP
1160 1170 1180 1190 1200
FRISPVNRMY AICRSYPGLL IVPQSVQDNA LQRVSRCYRQ NRFPVVCWRS
1210 1220 1230 1240 1250
GRSKAVLLRS GGLHGKGVVG LFKAQNAPSP GQSQADSSSL EQEKYLQAVV
1260 1270 1280 1290 1300
SSMPRYADAS GRNTLSGFSS AHMGSHGKWG SVRTSGRSSG LGTDVGSRLA
1310 1320 1330 1340 1350
GRDALAPPQA NGGPPDPGFL RPQRAALYIL GDKAQLKGVR SDPLQQWELV
1360 1370 1380 1390 1400
PIEVFEARQV KASFKKLLKA CVPGCPAAEP SPASFLRSLE DSEWLIQIHK
1410 1420 1430 1440 1450
LLQVSVLVVE LLDSGSSVLV GLEDGWDITT QVVSLVQLLS DPFYRTLEGF
1460 1470 1480 1490 1500
RLLVEKEWLS FGHRFSHRGA HTLAGQSSGF TPVFLQFLDC VHQVHLQFPM
1510 1520 1530 1540 1550
EFEFSQFYLK FLGYHHVSRR FRTFLLDSDY ERIELGLLYE EKGERRGQVP
1560 1570 1580 1590 1600
CRSVWEYVDR LSKRTPVFHN YMYAPEDAEV LRPYSNVSNL KVWDFYTEET
1610 1620 1630 1640 1650
LAEGPPYDWE LAQGPPEPPE EERSDGGAPQ SRRRVVWPCY DSCPRAQPDA
1660 1670 1680 1690 1700
ISRLLEELQR LETELGQPAE RWKDTWDRVK AAQRLEGRPD GRGTPSSLLV
1710 1720 1730 1740 1750
STAPHHRRSL GVYLQEGPVG STLSLSLDSD QSSGSTTSGS RQAARRSTST
1760 1770 1780 1790 1800
LYSQFQTAES ENRSYEGTLY KKGAFMKPWK ARWFVLDKTK HQLRYYDHRV
1810 1820 1830 1840 1850
DTECKGVIDL AEVEAVAPGT PTMGAPKTVD EKAFFDVKTT RRVYNFCAQD
1860
VPSAQQWVDR IQSCLSDA
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketH0Y5W8 | H0Y5W8_HUMAN | Myotubularin-related protein 5 | SBF1 | 415 | Annotation score: |
Sequence cautioni
The sequence AAC39675 differs from that shown. Reason: Frameshift at positions 1604, 1628, 1632 and 1865.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 597 | A → V in AAC39675 (PubMed:9537414).Curated | 1 | |
Sequence conflicti | 1173 | P → R in AAC39675 (PubMed:9537414).Curated | 1 | |
Sequence conflicti | 1377 | A → P in AAC78842 (PubMed:9736772).Curated | 1 | |
Sequence conflicti | 1557 | Y → H in AAC78842 (PubMed:9736772).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_070046 | 418 | M → V in CMT4B3. 1 PublicationCorresponds to variant dbSNP:rs587776986Ensembl. | 1 | |
Natural variantiVAR_070047 | 1565 | T → A in CMT4B3. 1 PublicationCorresponds to variant dbSNP:rs200488568Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_059427 | 93 | Missing in isoform 5. 2 Publications | 1 | |
Alternative sequenceiVSP_015158 | 1276 | H → HVPSPRARVTTLSNPMAASA SRRTAPR in isoform 4 and isoform 5. 2 Publications | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AL096767 Genomic DNA No translation available. CH471138 Genomic DNA Translation: EAW73536.1 CH471138 Genomic DNA Translation: EAW73538.1 CH471138 Genomic DNA Translation: EAW73539.1 BC009268 mRNA Translation: AAH09268.2 BC087612 mRNA Translation: AAH87612.1 U93181 mRNA Translation: AAC39675.1 Frameshift. AF072929 mRNA Translation: AAC78842.1 |
CCDSi | CCDS14091.2 [O95248-5] |
RefSeqi | NP_002963.2, NM_002972.3 [O95248-5] |
UniGenei | Hs.589924 |
Genome annotation databases
Ensembli | ENST00000348911; ENSP00000252027; ENSG00000100241 [O95248-1] ENST00000380817; ENSP00000370196; ENSG00000100241 [O95248-5] |
GeneIDi | 6305 |
KEGGi | hsa:6305 |
UCSCi | uc003blh.5 human [O95248-1] uc062flz.1 human |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AL096767 Genomic DNA No translation available. CH471138 Genomic DNA Translation: EAW73536.1 CH471138 Genomic DNA Translation: EAW73538.1 CH471138 Genomic DNA Translation: EAW73539.1 BC009268 mRNA Translation: AAH09268.2 BC087612 mRNA Translation: AAH87612.1 U93181 mRNA Translation: AAC39675.1 Frameshift. AF072929 mRNA Translation: AAC78842.1 |
CCDSi | CCDS14091.2 [O95248-5] |
RefSeqi | NP_002963.2, NM_002972.3 [O95248-5] |
UniGenei | Hs.589924 |
3D structure databases
ProteinModelPortali | O95248 |
SMRi | O95248 |
ModBasei | Search... |
MobiDBi | Search... |
Protein-protein interaction databases
BioGridi | 112212, 50 interactors |
IntActi | O95248, 8 interactors |
MINTi | O95248 |
STRINGi | 9606.ENSP00000370196 |
PTM databases
DEPODi | O95248 |
iPTMneti | O95248 |
PhosphoSitePlusi | O95248 |
Polymorphism and mutation databases
BioMutai | SBF1 |
Proteomic databases
EPDi | O95248 |
jPOSTi | O95248 |
MaxQBi | O95248 |
PaxDbi | O95248 |
PeptideAtlasi | O95248 |
PRIDEi | O95248 |
ProteomicsDBi | 50743 50744 [O95248-4] |
Protocols and materials databases
DNASUi | 6305 |
Structural Biology Knowledgebase | Search... |
Genome annotation databases
Ensembli | ENST00000348911; ENSP00000252027; ENSG00000100241 [O95248-1] ENST00000380817; ENSP00000370196; ENSG00000100241 [O95248-5] |
GeneIDi | 6305 |
KEGGi | hsa:6305 |
UCSCi | uc003blh.5 human [O95248-1] uc062flz.1 human |
Organism-specific databases
CTDi | 6305 |
DisGeNETi | 6305 |
EuPathDBi | HostDB:ENSG00000100241.20 |
GeneCardsi | SBF1 |
GeneReviewsi | SBF1 |
HGNCi | HGNC:10542 SBF1 |
HPAi | HPA074004 |
MalaCardsi | SBF1 |
MIMi | 603560 gene 615284 phenotype |
neXtProti | NX_O95248 |
OpenTargetsi | ENSG00000100241 |
Orphaneti | 363981 Charcot-Marie-Tooth disease type 4B3 |
PharmGKBi | PA34953 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1090 Eukaryota KOG2080 Eukaryota ENOG410XTJ1 LUCA |
GeneTreei | ENSGT00940000155263 |
HOVERGENi | HBG052527 |
InParanoidi | O95248 |
KOi | K18061 |
OMAi | DQATAKM |
OrthoDBi | 45015at2759 |
PhylomeDBi | O95248 |
TreeFami | TF318583 |
Enzyme and pathway databases
BRENDAi | 3.1.3.16 2681 |
Reactomei | R-HSA-1483248 Synthesis of PIPs at the ER membrane R-HSA-8876198 RAB GEFs exchange GTP for GDP on RABs |
Miscellaneous databases
ChiTaRSi | SBF1 human |
GeneWikii | SBF1 |
GenomeRNAii | 6305 |
PROi | PR:O95248 |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000100241 Expressed in 214 organ(s), highest expression level in testis |
ExpressionAtlasi | O95248 baseline and differential |
Genevisiblei | O95248 HS |
Family and domain databases
Gene3Di | 2.30.29.30, 1 hit |
InterProi | View protein in InterPro IPR001194 cDENN_dom IPR005112 dDENN_dom IPR004182 GRAM IPR030574 MTMR5 IPR010569 Myotubularin-like_Pase_dom IPR030564 Myotubularin_fam IPR011993 PH-like_dom_sf IPR001849 PH_domain IPR029021 Prot-tyrosine_phosphatase-like IPR022096 SBF1/SBF2 IPR037516 Tripartite_DENN IPR005113 uDENN_dom |
PANTHERi | PTHR10807 PTHR10807, 1 hit PTHR10807:SF43 PTHR10807:SF43, 1 hit |
Pfami | View protein in Pfam PF02141 DENN, 1 hit PF02893 GRAM, 1 hit PF06602 Myotub-related, 1 hit PF00169 PH, 1 hit PF12335 SBF2, 1 hit PF03456 uDENN, 1 hit |
SMARTi | View protein in SMART SM00801 dDENN, 1 hit SM00799 DENN, 1 hit SM00568 GRAM, 1 hit SM00233 PH, 1 hit SM00800 uDENN, 1 hit |
SUPFAMi | SSF52799 SSF52799, 1 hit |
PROSITEi | View protein in PROSITE PS50211 DENN, 1 hit PS50003 PH_DOMAIN, 1 hit PS51339 PPASE_MYOTUBULARIN, 1 hit |
ProtoNeti | Search... |
Entry informationi
Entry namei | MTMR5_HUMAN | |
Accessioni | O95248Primary (citable) accession number: O95248 Secondary accession number(s): A0A024R4Z9 Q9UGB8 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | December 1, 2000 |
Last sequence update: | March 28, 2018 | |
Last modified: | February 13, 2019 | |
This is version 178 of the entry and version 4 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
Complete proteome, Reference proteomeDocuments
- SIMILARITY comments
Index of protein domains and families - Human chromosome 22
Human chromosome 22: entries, gene names and cross-references to MIM - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations