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Q9NQX7

- ITM2C_HUMAN

UniProt

Q9NQX7 - ITM2C_HUMAN

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Protein

Integral membrane protein 2C

Gene

ITM2C

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Negative regulator of beta amyloid peptide production. May inhibit the processing of APP by blocking its access to alpha- and beta-secretase. Binding to the beta-secretase-cleaved APP C-terminal fragment is negligible, suggesting that ITM2C is a poor gamma-secretase cleavage inhibitor. May play a role in TNF-induced cell death and neuronal differentiation (By similarity).By similarity

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sitei242 – 2432Cleavage; by furin

GO - Molecular functioni

  1. ATP binding Source: Ensembl
  2. beta-amyloid binding Source: BHF-UCL

GO - Biological processi

  1. negative regulation of neuron projection development Source: UniProtKB
  2. neuron differentiation Source: UniProtKB
  3. positive regulation of extrinsic apoptotic signaling pathway Source: Ensembl
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Integral membrane protein 2C
Alternative name(s):
Cerebral protein 14
Transmembrane protein BRI3
Cleaved into the following chain:
Gene namesi
Name:ITM2C
Synonyms:BRI3
ORF Names:hucep-14, NPD018, PSEC0047
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:6175. ITM2C.

Subcellular locationi

Lysosome membrane By similarity; Single-pass type II membrane protein By similarity. Cell membrane 1 Publication; Single-pass type II membrane protein 1 Publication

GO - Cellular componenti

  1. extracellular vesicular exosome Source: UniProt
  2. Golgi apparatus Source: LIFEdb
  3. integral component of membrane Source: UniProtKB-KW
  4. lysosome Source: UniProtKB
  5. perinuclear region of cytoplasm Source: UniProtKB
  6. plasma membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Lysosome, Membrane

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi241 – 2422KR → AA: Completely abrogates proteolytic processing. 1 Publication

Organism-specific databases

PharmGKBiPA29972.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 267267Integral membrane protein 2CPRO_0000154826Add
BLAST
Peptidei243 – 26725CT-BRI3PRO_0000232645Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi163 ↔ 222By similarity
Glycosylationi169 – 1691N-linked (GlcNAc...)1 Publication

Post-translational modificationi

Type I membrane-bound, as well as soluble, furin has a pre-eminent role in ITM2C proteolytic processing. PCSK7 and PCSK5 may also be involved although to a lesser extent. The soluble form of PCSK7 is incapable of processing ITM2C. Fails to undergo shedding by ADAM10 and intramembanaire cleavage by SPPL2B.1 Publication

Keywords - PTMi

Cleavage on pair of basic residues, Disulfide bond, Glycoprotein

Proteomic databases

MaxQBiQ9NQX7.
PaxDbiQ9NQX7.
PRIDEiQ9NQX7.

PTM databases

PhosphoSiteiQ9NQX7.

Expressioni

Tissue specificityi

High levels in the brain, specifically in the cerebral cortex, medulla, amygdala, hippocampus, thalamus, caudate nucleus, cerebellum, olfactory lobe and spinal cord. Very low levels in other organs.2 Publications

Gene expression databases

BgeeiQ9NQX7.
CleanExiHS_BRI3.
HS_ITM2C.
ExpressionAtlasiQ9NQX7. baseline and differential.
GenevestigatoriQ9NQX7.

Interactioni

Subunit structurei

Interacts with BACE1. Interacts with APP. Interacts with STMN2.3 Publications

Protein-protein interaction databases

BioGridi123553. 5 interactions.
IntActiQ9NQX7. 4 interactions.
MINTiMINT-4724210.

Structurei

3D structure databases

ProteinModelPortaliQ9NQX7.
ModBaseiSearch...
MobiDBiSearch...

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei55 – 7521Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
BLAST

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini136 – 23095BRICHOSPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Belongs to the ITM2 family.Curated
Contains 1 BRICHOS domain.PROSITE-ProRule annotation

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG283703.
GeneTreeiENSGT00390000005162.
HOVERGENiHBG059373.
InParanoidiQ9NQX7.
KOiK18265.
OMAiCSGKETY.
PhylomeDBiQ9NQX7.
TreeFamiTF317770.

Family and domain databases

InterProiIPR007084. BRICHOS_dom.
[Graphical view]
PfamiPF04089. BRICHOS. 1 hit.
[Graphical view]
SMARTiSM01039. BRICHOS. 1 hit.
[Graphical view]
PROSITEiPS50869. BRICHOS. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q9NQX7-1) [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.

« Hide

        10         20         30         40         50
MVKISFQPAV AGIKGDKADK ASASAPAPAS ATEILLTPAR EEQPPQHRSK
60 70 80 90 100
RGGSVGGVCY LSMGMVVLLM GLVFASVYIY RYFFLAQLAR DNFFRCGVLY
110 120 130 140 150
EDSLSSQVRT QMELEEDVKI YLDENYERIN VPVPQFGGGD PADIIHDFQR
160 170 180 190 200
GLTAYHDISL DKCYVIELNT TIVLPPRNFW ELLMNVKRGT YLPQTYIIQE
210 220 230 240 250
EMVVTEHVSD KEALGSFIYH LCNGKDTYRL RRRATRRRIN KRGAKNCNAI
260
RHFENTFVVE TLICGVV
Length:267
Mass (Da):30,224
Last modified:October 1, 2000 - v1
Checksum:i234DDB91B4F282E7
GO
Isoform 2 (identifier: Q9NQX7-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     41-87: Missing.

Show »
Length:220
Mass (Da):24,956
Checksum:i9C16C85BD37BA9CC
GO
Isoform 3 (identifier: Q9NQX7-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     151-187: Missing.

Note: No experimental confirmation available.

Show »
Length:230
Mass (Da):25,921
Checksum:i6C8BF583B61C58D0
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti22 – 3918Missing in BAC03562. (PubMed:14702039)CuratedAdd
BLAST
Sequence conflicti133 – 1331V → A in BAD96417. 1 PublicationCurated
Sequence conflicti205 – 2051T → A in CAG33489. 1 PublicationCurated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti53 – 531G → S.5 Publications
Corresponds to variant rs2289235 [ dbSNP | Ensembl ].
VAR_022111

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei41 – 8747Missing in isoform 2. 2 PublicationsVSP_013471Add
BLAST
Alternative sequencei151 – 18737Missing in isoform 3. 1 PublicationVSP_013472Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AB003629 mRNA. Translation: BAB46927.1.
AF272043 mRNA. Translation: AAF89492.1.
AY049777 mRNA. Translation: AAL15434.1.
AF271781 mRNA. Translation: AAG44792.1.
AL136603 mRNA. Translation: CAB66538.1.
AK056321 mRNA. Translation: BAG51676.1.
AK090975 mRNA. Translation: BAC03562.1.
CR457208 mRNA. Translation: CAG33489.1.
AK222697 mRNA. Translation: BAD96417.1.
AK075361 mRNA. Translation: BAC11570.1.
AL713651 mRNA. Translation: CAD28460.1.
CH471063 Genomic DNA. Translation: EAW70936.1.
BC002424 mRNA. Translation: AAH02424.1.
BC025742 mRNA. Translation: AAH25742.1.
BC050668 mRNA. Translation: AAH50668.1.
BC098563 mRNA. Translation: AAH98563.1.
CCDSiCCDS2479.1. [Q9NQX7-1]
CCDS33395.1. [Q9NQX7-3]
CCDS33396.1. [Q9NQX7-2]
RefSeqiNP_001012532.1. NM_001012514.2. [Q9NQX7-2]
NP_001012534.1. NM_001012516.2. [Q9NQX7-3]
NP_001274169.1. NM_001287240.1.
NP_001274170.1. NM_001287241.1. [Q9NQX7-1]
NP_112188.1. NM_030926.5. [Q9NQX7-1]
UniGeneiHs.111577.

Genome annotation databases

EnsembliENST00000326407; ENSP00000322100; ENSG00000135916. [Q9NQX7-3]
ENST00000326427; ENSP00000322730; ENSG00000135916. [Q9NQX7-1]
ENST00000335005; ENSP00000335121; ENSG00000135916. [Q9NQX7-2]
GeneIDi81618.
KEGGihsa:81618.
UCSCiuc002vqz.3. human. [Q9NQX7-1]
uc002vra.3. human. [Q9NQX7-2]
uc002vrb.3. human. [Q9NQX7-3]

Polymorphism databases

DMDMi12585259.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AB003629 mRNA. Translation: BAB46927.1 .
AF272043 mRNA. Translation: AAF89492.1 .
AY049777 mRNA. Translation: AAL15434.1 .
AF271781 mRNA. Translation: AAG44792.1 .
AL136603 mRNA. Translation: CAB66538.1 .
AK056321 mRNA. Translation: BAG51676.1 .
AK090975 mRNA. Translation: BAC03562.1 .
CR457208 mRNA. Translation: CAG33489.1 .
AK222697 mRNA. Translation: BAD96417.1 .
AK075361 mRNA. Translation: BAC11570.1 .
AL713651 mRNA. Translation: CAD28460.1 .
CH471063 Genomic DNA. Translation: EAW70936.1 .
BC002424 mRNA. Translation: AAH02424.1 .
BC025742 mRNA. Translation: AAH25742.1 .
BC050668 mRNA. Translation: AAH50668.1 .
BC098563 mRNA. Translation: AAH98563.1 .
CCDSi CCDS2479.1. [Q9NQX7-1 ]
CCDS33395.1. [Q9NQX7-3 ]
CCDS33396.1. [Q9NQX7-2 ]
RefSeqi NP_001012532.1. NM_001012514.2. [Q9NQX7-2 ]
NP_001012534.1. NM_001012516.2. [Q9NQX7-3 ]
NP_001274169.1. NM_001287240.1.
NP_001274170.1. NM_001287241.1. [Q9NQX7-1 ]
NP_112188.1. NM_030926.5. [Q9NQX7-1 ]
UniGenei Hs.111577.

3D structure databases

ProteinModelPortali Q9NQX7.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 123553. 5 interactions.
IntActi Q9NQX7. 4 interactions.
MINTi MINT-4724210.

PTM databases

PhosphoSitei Q9NQX7.

Polymorphism databases

DMDMi 12585259.

Proteomic databases

MaxQBi Q9NQX7.
PaxDbi Q9NQX7.
PRIDEi Q9NQX7.

Protocols and materials databases

DNASUi 81618.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000326407 ; ENSP00000322100 ; ENSG00000135916 . [Q9NQX7-3 ]
ENST00000326427 ; ENSP00000322730 ; ENSG00000135916 . [Q9NQX7-1 ]
ENST00000335005 ; ENSP00000335121 ; ENSG00000135916 . [Q9NQX7-2 ]
GeneIDi 81618.
KEGGi hsa:81618.
UCSCi uc002vqz.3. human. [Q9NQX7-1 ]
uc002vra.3. human. [Q9NQX7-2 ]
uc002vrb.3. human. [Q9NQX7-3 ]

Organism-specific databases

CTDi 81618.
GeneCardsi GC02P231729.
HGNCi HGNC:6175. ITM2C.
MIMi 609554. gene.
neXtProti NX_Q9NQX7.
PharmGKBi PA29972.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG283703.
GeneTreei ENSGT00390000005162.
HOVERGENi HBG059373.
InParanoidi Q9NQX7.
KOi K18265.
OMAi CSGKETY.
PhylomeDBi Q9NQX7.
TreeFami TF317770.

Miscellaneous databases

ChiTaRSi ITM2C. human.
GeneWikii ITM2C.
GenomeRNAii 81618.
NextBioi 71968.
PROi Q9NQX7.
SOURCEi Search...

Gene expression databases

Bgeei Q9NQX7.
CleanExi HS_BRI3.
HS_ITM2C.
ExpressionAtlasi Q9NQX7. baseline and differential.
Genevestigatori Q9NQX7.

Family and domain databases

InterProi IPR007084. BRICHOS_dom.
[Graphical view ]
Pfami PF04089. BRICHOS. 1 hit.
[Graphical view ]
SMARTi SM01039. BRICHOS. 1 hit.
[Graphical view ]
PROSITEi PS50869. BRICHOS. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Molecular cloning of a gene specifically expressed in human brain."
    Yoshimoto M., Yazaki M., Matsumoto K., Takayama K.
    Submitted (MAY-1997) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT SER-53.
    Tissue: Brain.
  2. "Sequence, genomic structure and tissue expression of human BRI3, a member of the BRI gene family."
    Vidal R., Calero M., Revesz T., Plant G., Ghiso J., Frangione B.
    Gene 266:95-102(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
  3. Wu J., Zhang B., Peng X., Yuan J., Qiang B.
    Submitted (JUL-2001) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  4. Xu X., Yang Y., Gao G., Xiao H., Chen Z., Han Z.
    Submitted (MAY-2000) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Pituitary.
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Brain.
  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.
    , 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), VARIANT SER-53.
    Tissue: Amygdala.
  7. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
    Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
    Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT SER-53.
  8. Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.
    Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Brain.
  9. "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries."
    Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J., Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S., Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y.
    , Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S., Isogai T.
    DNA Res. 12:117-126(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Teratocarcinoma.
  10. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT SER-53.
    Tissue: Uterus.
  11. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  12. "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] (ISOFORMS 1; 2 AND 3), VARIANT SER-53.
    Tissue: Brain, Chondrosarcoma and Colon.
  13. "Beta-amyloid protein converting enzyme 1 and brain-specific type II membrane protein BRI3: binding partners processed by furin."
    Wickham L., Benjannet S., Marcinkiewicz E., Chretien M., Seidah N.G.
    J. Neurochem. 92:93-102(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH BACE1, GLYCOSYLATION, CLEAVAGE, TISSUE SPECIFICITY, MUTAGENESIS OF 241-LYS-ARG-242.
  14. "BRI3 associates with SCG10 and attenuates NGF-induced neurite outgrowth in PC12 cells."
    Gong Y., Wu J., Qiang H., Liu B., Chi Z., Chen T., Yin B., Peng X., Yuan J.
    BMB Rep. 41:287-293(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, INTERACTION WITH STMN2.
  15. "Substrate requirements for SPPL2b-dependent regulated intramembrane proteolysis."
    Martin L., Fluhrer R., Haass C.
    J. Biol. Chem. 284:5662-5670(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: ABSENCE OF CLEAVAGE BY ADAM10 AND SPPL2B, SUBCELLULAR LOCATION.
  16. "BRI3 inhibits amyloid precursor protein processing in a mechanistically distinct manner from its homologue dementia gene BRI2."
    Matsuda S., Matsuda Y., D'Adamio L.
    J. Biol. Chem. 284:15815-15825(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, INTERACTION WITH APP.
  17. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiITM2C_HUMAN
AccessioniPrimary (citable) accession number: Q9NQX7
Secondary accession number(s): B3KPG4
, Q4G0A8, Q53H84, Q6IAE7, Q86VK5, Q8N288, Q8TAW0, Q9BUP8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 24, 2001
Last sequence update: October 1, 2000
Last modified: October 29, 2014
This is version 118 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3