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

Q6H8Q1 (ABLM2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 110. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | 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:
Actin-binding LIM protein 2

Short name=abLIM-2
Alternative name(s):
Actin-binding LIM protein family member 2
Gene names
Name:ABLIM2
Synonyms:KIAA1808
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length611 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

May act as scaffold protein. May stimulate ABRA activity and ABRA-dependent SRF transcriptional activity. Ref.1

Subunit structure

Interacts with F-actin and ABRA. Ref.1

Subcellular location

Cytoplasm. Note: In skeletal muscle, sarcomeric or cosarcomeric localization By similarity.

Tissue specificity

Highly expressed in skeletal muscle. Ref.1

Sequence similarities

Contains 1 HP (headpiece) domain.

Contains 4 LIM zinc-binding domains.

Sequence caution

The sequence AAH67214.1 differs from that shown. Reason: Erroneous initiation.

Alternative products

This entry describes 9 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q6H8Q1-1)

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: Q6H8Q1-2)

The sequence of this isoform differs from the canonical sequence as follows:
     506-545: RFPYSKSDPLPGHGKNGLDQRNANLAPCGADPDASWGMRE → Q
Isoform 3 (identifier: Q6H8Q1-3)

The sequence of this isoform differs from the canonical sequence as follows:
     349-349: E → ESPQLLSPTPTE
     390-441: Missing.
     506-545: RFPYSKSDPLPGHGKNGLDQRNANLAPCGADPDASWGMRE → Q
Isoform 4 (identifier: Q6H8Q1-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-243: Missing.
     349-349: E → ESPQLLSPTPTE
     389-422: Missing.
     459-459: K → KQ
Note: No experimental confirmation available.
Isoform 5 (identifier: Q6H8Q1-5)

The sequence of this isoform differs from the canonical sequence as follows:
     459-459: K → KQ
     506-545: RFPYSKSDPLPGHGKNGLDQRNANLAPCGADPDASWGMRE → Q
Note: No experimental confirmation available.
Isoform 6 (identifier: Q6H8Q1-6)

The sequence of this isoform differs from the canonical sequence as follows:
     349-349: E → ESPQLLSPTPTE
     390-441: Missing.
     459-459: K → KQ
     507-510: FPYS → EWFF
     511-611: Missing.
Note: No experimental confirmation available.
Isoform 7 (identifier: Q6H8Q1-7)

The sequence of this isoform differs from the canonical sequence as follows:
     390-441: Missing.
Isoform 8 (identifier: Q6H8Q1-8)

The sequence of this isoform differs from the canonical sequence as follows:
     390-441: Missing.
     459-459: K → KQ
     506-545: RFPYSKSDPLPGHGKNGLDQRNANLAPCGADPDASWGMRE → Q
Note: No experimental confirmation available.
Isoform 9 (identifier: Q6H8Q1-9)

The sequence of this isoform differs from the canonical sequence as follows:
     389-389: P → PAGTVSVGTSSCLSLSQHPSPTSVFRHHYIPYFR
     459-459: K → KQ
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 611611Actin-binding LIM protein 2
PRO_0000075699

Regions

Domain22 – 8160LIM zinc-binding 1
Domain81 – 14161LIM zinc-binding 2
Domain151 – 21060LIM zinc-binding 3
Domain210 – 27061LIM zinc-binding 4
Domain543 – 61169HP

Sites

Metal binding831Zinc 1
Metal binding861Zinc 1
Metal binding1031Zinc 1
Metal binding1061Zinc 1
Metal binding1091Zinc 2
Metal binding1121Zinc 2
Metal binding1311Zinc 2
Metal binding1341Zinc 2
Metal binding2121Zinc 3
Metal binding2151Zinc 3
Metal binding2321Zinc 3
Metal binding2351Zinc 3
Metal binding2381Zinc 4
Metal binding2411Zinc 4
Metal binding2601Zinc 4
Metal binding2631Zinc 4

Natural variations

Alternative sequence1 – 243243Missing in isoform 4.
VSP_012112
Alternative sequence3491E → ESPQLLSPTPTE in isoform 3, isoform 4 and isoform 6.
VSP_012113
Alternative sequence389 – 42234Missing in isoform 4.
VSP_012114
Alternative sequence3891P → PAGTVSVGTSSCLSLSQHPS PTSVFRHHYIPYFR in isoform 9.
VSP_046646
Alternative sequence390 – 44152Missing in isoform 3, isoform 6, isoform 7 and isoform 8.
VSP_012115
Alternative sequence4591K → KQ in isoform 4, isoform 5, isoform 6, isoform 8 and isoform 9.
VSP_012116
Alternative sequence506 – 54540RFPYS…WGMRE → Q in isoform 2, isoform 3, isoform 5 and isoform 8.
VSP_012117
Alternative sequence507 – 5104FPYS → EWFF in isoform 6.
VSP_012118
Alternative sequence511 – 611101Missing in isoform 6.
VSP_012119
Natural variant2271G → R in a pancreatic ductal adenocarcinoma sample; somatic mutation. Ref.9
VAR_062665
Natural variant2741K → M in a pancreatic ductal adenocarcinoma sample; somatic mutation. Ref.9
VAR_062666

Experimental info

Sequence conflict2401R → G in BAC04414. Ref.3
Sequence conflict3121D → G in BAC04414. Ref.3

Secondary structure

................................................ 611
Helix Strand Turn

Details...

Sequences

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

Last modified December 7, 2004. Version 2.
Checksum: 225A4E25646B370B

FASTA61167,812
        10         20         30         40         50         60 
MSAVSQPQAA PSPLEKSPST AILCNTCGNV CKGEVLRVQD KYFHIKCFVC KACGCDLAEG 

        70         80         90        100        110        120 
GFFVRQGEYI CTLDYQRLYG TRCFSCDQFI EGEVVSALGK TYHPDCFVCA VCRLPFPPGD 

       130        140        150        160        170        180 
RVTFNGKECM CQKCSLPVSV GSSAHLSQGL RSCGGCGTEI KNGQALVALD KHWHLGCFKC 

       190        200        210        220        230        240 
KSCGKLLNAE YISKDGLPYC EADYHAKFGI RCDSCEKYIT GRVLEAGEKH YHPSCALCVR 

       250        260        270        280        290        300 
CGQMFAEGEE MYLQGSSIWH PACRQAARTE DRNKETRTSS ESIISVPASS TSGSPSRVIY 

       310        320        330        340        350        360 
AKLGGEILDY RDLAALPKSK AIYDIDRPDM ISYSPYISHS AGDRQSYGEG DQDDRSYKQC 

       370        380        390        400        410        420 
RTSSPSSTGS VSLGRYTPTS RSPQHYSRPG SESGRSTPSL SVLSDSKPPP STYQQAPRHF 

       430        440        450        460        470        480 
HVPDTGVKDN IYRKPPIYRQ HAARRSDGED GSLDQDNRKK SSWLMLKGDA DTRTNSPDLD 

       490        500        510        520        530        540 
TQSLSHSSGT DRDPLQRMAG DSFHSRFPYS KSDPLPGHGK NGLDQRNANL APCGADPDAS 

       550        560        570        580        590        600 
WGMREYKIYP YDSLIVTNRI RVKLPKDVDR TRLERHLSPE EFQEVFGMSI EEFDRLALWK 

       610 
RNDLKKKALL F 

« Hide

Isoform 2 [UniParc].

Checksum: F2CF3EEE6B1CCADC
Show »

FASTA57263,632
Isoform 3 [UniParc].

Checksum: 1E6B36B85E5176D8
Show »

FASTA53158,984
Isoform 4 [UniParc].

Checksum: 00733A9BC0EA7BE5
Show »

FASTA34638,966
Isoform 5 [UniParc].

Checksum: DFD6CB38CF846982
Show »

FASTA57363,760
Isoform 6 [UniParc].

Checksum: FD93E620E09C0742
Show »

FASTA47051,698
Isoform 7 [UniParc].

Checksum: A055D0C31DE338FA
Show »

FASTA55962,013
Isoform 8 [UniParc].

Checksum: 1A242FA6173188E3
Show »

FASTA52157,960
Isoform 9 [UniParc].

Checksum: 50C4FDC1B30AD41E
Show »

FASTA64571,542

References

« Hide 'large scale' references
[1]"Two novel members of the ABLIM protein family, ABLIM-2 and -3, associate with STARS and directly bind F-actin."
Barrientos T., Frank D., Kuwahara K., Bezprozvannaya S., Pipes G.C.T., Bassel-Duby R., Richardson J.A., Katus H.A., Olson E.N., Frey N.
J. Biol. Chem. 282:8393-8403(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 7), FUNCTION, TISSUE SPECIFICITY, INTERACTION WITH ABRA AND F-ACTIN.
Tissue: Heart.
[2]"Structure and transcriptional activity of the ABLIM2 gene of human, mouse and rat."
Klimov E.A., Rakhmanaliev E.R., Rudco O.I.
Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
[3]"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 3 AND 4).
Tissue: Brain.
[4]"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. expand/collapse author list , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"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 6 AND 8).
Tissue: PNS.
[6]"Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
Nagase T., Nakayama M., Nakajima D., Kikuno R., Ohara O.
DNA Res. 8:85-95(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 34-611 (ISOFORM 2).
Tissue: Brain.
[7]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 390-572 (ISOFORM 5).
Tissue: Amygdala.
[8]"Solution structure of the LIM domain of the human actin binding LIM protein 2."
RIKEN structural genomics initiative (RSGI)
Submitted (FEB-2009) to the PDB data bank
Cited for: STRUCTURE BY NMR OF 73-140 AND 212-271, ZINC-BINDING SITES.
[9]"Core signaling pathways in human pancreatic cancers revealed by global genomic analyses."
Jones S., Zhang X., Parsons D.W., Lin J.C., Leary R.J., Angenendt P., Mankoo P., Carter H., Kamiyama H., Jimeno A., Hong S.M., Fu B., Lin M.T., Calhoun E.S., Kamiyama M., Walter K., Nikolskaya T., Nikolsky Y. expand/collapse author list , Hartigan J., Smith D.R., Hidalgo M., Leach S.D., Klein A.P., Jaffee E.M., Goggins M., Maitra A., Iacobuzio-Donahue C., Eshleman J.R., Kern S.E., Hruban R.H., Karchin R., Papadopoulos N., Parmigiani G., Vogelstein B., Velculescu V.E., Kinzler K.W.
Science 321:1801-1806(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS [LARGE SCALE ANALYSIS] ARG-227 AND MET-274.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
DQ413177 mRNA. Translation: ABD83330.1.
AJ748600 mRNA. Translation: CAG38375.1.
AJ748601 mRNA. Translation: CAG38376.1.
AK094754 mRNA. Translation: BAC04414.1.
AK094798 mRNA. Translation: BAC04427.1.
AC097381 Genomic DNA. No translation available.
AC104650 Genomic DNA. No translation available.
AC114807 Genomic DNA. No translation available.
BC067214 mRNA. Translation: AAH67214.1. Different initiation.
BC122567 mRNA. Translation: AAI22568.1.
AB058711 mRNA. Translation: BAB47437.1.
AL834195 mRNA. Translation: CAD38885.2.
RefSeqNP_001123555.1. NM_001130083.1.
NP_001123556.1. NM_001130084.1.
NP_001123557.1. NM_001130085.1.
NP_001123558.1. NM_001130086.1.
NP_001123559.1. NM_001130087.1.
NP_001123560.1. NM_001130088.1.
NP_001273617.1. NM_001286688.1.
NP_115808.3. NM_032432.4.
UniGeneHs.233404.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
1V6GNMR-A73-140[»]
1WIGNMR-A212-271[»]
2L3XNMR-A546-611[»]
ProteinModelPortalQ6H8Q1.
SMRQ6H8Q1. Positions 23-271, 545-611.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid124086. 4 interactions.
IntActQ6H8Q1. 3 interactions.
STRING9606.ENSP00000393511.

PTM databases

PhosphoSiteQ6H8Q1.

Polymorphism databases

DMDM56404514.

Proteomic databases

PaxDbQ6H8Q1.
PRIDEQ6H8Q1.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000318888; ENSP00000317020; ENSG00000163995. [Q6H8Q1-4]
ENST00000341937; ENSP00000342813; ENSG00000163995. [Q6H8Q1-1]
ENST00000361581; ENSP00000355003; ENSG00000163995. [Q6H8Q1-2]
ENST00000361737; ENSP00000354887; ENSG00000163995. [Q6H8Q1-3]
ENST00000407564; ENSP00000384658; ENSG00000163995. [Q6H8Q1-8]
ENST00000428004; ENSP00000389410; ENSG00000163995. [Q6H8Q1-6]
ENST00000447017; ENSP00000393511; ENSG00000163995. [Q6H8Q1-9]
ENST00000505872; ENSP00000421283; ENSG00000163995. [Q6H8Q1-7]
ENST00000514025; ENSP00000423661; ENSG00000163995. [Q6H8Q1-4]
GeneID84448.
KEGGhsa:84448.
UCSCuc003gkl.3. human. [Q6H8Q1-4]
uc003gkm.4. human. [Q6H8Q1-7]
uc003gko.3. human. [Q6H8Q1-1]
uc003gkp.3. human. [Q6H8Q1-3]
uc003gkq.3. human. [Q6H8Q1-2]
uc003gkr.3. human. [Q6H8Q1-8]
uc003gks.3. human. [Q6H8Q1-6]

Organism-specific databases

CTD84448.
GeneCardsGC04M007967.
HGNCHGNC:19195. ABLIM2.
HPAHPA035808.
MIM612544. gene.
neXtProtNX_Q6H8Q1.
PharmGKBPA134940437.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG302299.
HOGENOMHOG000285997.
HOVERGENHBG031499.
KOK07520.
OMAFRHHYIP.
OrthoDBEOG71CFKF.
PhylomeDBQ6H8Q1.
TreeFamTF318042.

Enzyme and pathway databases

ReactomeREACT_111045. Developmental Biology.

Gene expression databases

ArrayExpressQ6H8Q1.
BgeeQ6H8Q1.
CleanExHS_ABLIM2.
GenevestigatorQ6H8Q1.

Family and domain databases

Gene3D1.10.950.10. 1 hit.
2.10.110.10. 4 hits.
InterProIPR028450. ABLIM2.
IPR003128. Villin_headpiece.
IPR001781. Znf_LIM.
[Graphical view]
PANTHERPTHR24213:SF6. PTHR24213:SF6. 1 hit.
PfamPF00412. LIM. 4 hits.
PF02209. VHP. 1 hit.
[Graphical view]
SMARTSM00132. LIM. 4 hits.
SM00153. VHP. 1 hit.
[Graphical view]
SUPFAMSSF47050. SSF47050. 1 hit.
PROSITEPS51089. HP. 1 hit.
PS00478. LIM_DOMAIN_1. 4 hits.
PS50023. LIM_DOMAIN_2. 4 hits.
[Graphical view]
ProtoNetSearch...

Other

EvolutionaryTraceQ6H8Q1.
GenomeRNAi84448.
NextBio74223.
PROQ6H8Q1.
SOURCESearch...

Entry information

Entry nameABLM2_HUMAN
AccessionPrimary (citable) accession number: Q6H8Q1
Secondary accession number(s): E9PF39 expand/collapse secondary AC list , Q08E71, Q19VH0, Q6H8Q0, Q6NX73, Q8N3C5, Q8N9E9, Q8N9G2, Q96JL7
Entry history
Integrated into UniProtKB/Swiss-Prot: December 7, 2004
Last sequence update: December 7, 2004
Last modified: April 16, 2014
This is version 110 of the entry and version 2 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

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

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 4

Human chromosome 4: entries, gene names and cross-references to MIM