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Q9HA72 (CAHM2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 96. 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:
Calcium homeostasis modulator protein 2
Alternative name(s):
Protein FAM26B
Gene names
Name:CALHM2
Synonyms:FAM26B
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length323 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Pore-forming subunit of a voltage-gated ion channel By similarity.

Subcellular location

Membrane; Multi-pass membrane protein Potential.

Sequence similarities

Belongs to the FAM26 family.

Ontologies

Keywords
   Biological processIon transport
Transport
   Cellular componentMembrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainTransmembrane
Transmembrane helix
   Molecular functionIon channel
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_procession transport

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentintegral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9HA72-1)

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: Q9HA72-2)

The sequence of this isoform differs from the canonical sequence as follows:
     186-218: LFGWLLIGVVAILVFLTKCLKHYCSPLSYRQEA → VRSCAKGSSSSLVVAGERSGDGLVLKLGLVLRG
     219-323: Missing.
Note: No experimental confirmation available.
Isoform 3 (identifier: Q9HA72-3)

The sequence of this isoform differs from the canonical sequence as follows:
     181-196: RYESQLFGWLLIGVVA → SSLDGCSSAWWPSWCS
     197-323: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 323323Calcium homeostasis modulator protein 2
PRO_0000186720

Regions

Transmembrane21 – 4121Helical; Potential
Transmembrane55 – 7521Helical; Potential
Transmembrane100 – 12021Helical; Potential
Transmembrane185 – 20521Helical; Potential

Natural variations

Alternative sequence181 – 19616RYESQ…IGVVA → SSLDGCSSAWWPSWCS in isoform 3.
VSP_013856
Alternative sequence186 – 21833LFGWL…YRQEA → VRSCAKGSSSSLVVAGERSG DGLVLKLGLVLRG in isoform 2.
VSP_013853
Alternative sequence197 – 323127Missing in isoform 3.
VSP_013855
Alternative sequence219 – 323105Missing in isoform 2.
VSP_013854
Natural variant1361V → G.
Corresponds to variant rs2232660 [ dbSNP | Ensembl ].
VAR_053084
Natural variant1941V → M.
Corresponds to variant rs2232662 [ dbSNP | Ensembl ].
VAR_033924

Sequences

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

Last modified March 1, 2001. Version 1.
Checksum: 20A4BC58F6763926

FASTA32336,175
        10         20         30         40         50         60 
MAALIAENFR FLSLFFKSKD VMIFNGLVAL GTVGSQELFS VVAFHCPCSP ARNYLYGLAA 

        70         80         90        100        110        120 
IGVPALVLFI IGIILNNHTW NLVAECQHRR TKNCSAAPTF LLLSSILGRA AVAPVTWSVI 

       130        140        150        160        170        180 
SLLRGEAYVC ALSEFVDPSS LTAREEHFPS AHATEILARF PCKENPDNLS DFREEVSRRL 

       190        200        210        220        230        240 
RYESQLFGWL LIGVVAILVF LTKCLKHYCS PLSYRQEAYW AQYRANEDQL FQRTAEVHSR 

       250        260        270        280        290        300 
VLAANNVRRF FGFVALNKDD EELIANFPVE GTQPRPQWNA ITGVYLYREN QGLPLYSRLH 

       310        320 
KWAQGLAGNG AAPDNVEMAL LPS 

« Hide

Isoform 2 [UniParc].

Checksum: 569EBDD40662D5D5
Show »

FASTA21823,718
Isoform 3 [UniParc].

Checksum: 1523996B86D6DA74
Show »

FASTA19621,542

References

« Hide 'large scale' references
[1]"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).
[2]Mei G., Yu W., Gibbs R.A.
Submitted (FEB-1999) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
Tissue: Brain.
[3]"The DNA sequence and comparative analysis of human chromosome 10."
Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J. expand/collapse author list , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
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] (ISOFORM 1).
Tissue: Brain.
[6]"A polymorphism in CALHM1 influences Ca2+ homeostasis, Abeta levels, and Alzheimer's disease risk."
Dreses-Werringloer U., Lambert J.-C., Vingtdeux V., Zhao H., Vais H., Siebert A., Jain A., Koppel J., Rovelet-Lecrux A., Hannequin D., Pasquier F., Galimberti D., Scarpini E., Mann D., Lendon C., Campion D., Amouyel P., Davies P. expand/collapse author list , Foskett J.K., Campagne F., Marambaud P.
Cell 133:1149-1161(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK022195 mRNA. Translation: BAB13983.1.
AK125276 mRNA. No translation available.
AF131810 mRNA. Translation: AAD20050.1.
AL139339 Genomic DNA. Translation: CAH71483.1.
CH471066 Genomic DNA. Translation: EAW49634.1.
CH471066 Genomic DNA. Translation: EAW49635.1.
CH471066 Genomic DNA. Translation: EAW49636.1.
CH471066 Genomic DNA. Translation: EAW49637.1.
CH471066 Genomic DNA. Translation: EAW49638.1.
BC000039 mRNA. Translation: AAH00039.1.
CCDSCCDS7549.1. [Q9HA72-1]
RefSeqNP_057000.2. NM_015916.4. [Q9HA72-1]
XP_006717940.1. XM_006717877.1. [Q9HA72-1]
XP_006717941.1. XM_006717878.1. [Q9HA72-1]
XP_006717942.1. XM_006717879.1. [Q9HA72-1]
XP_006717943.1. XM_006717880.1. [Q9HA72-1]
XP_006717944.1. XM_006717881.1. [Q9HA72-1]
XP_006717945.1. XM_006717882.1. [Q9HA72-1]
XP_006717946.1. XM_006717883.1. [Q9HA72-1]
XP_006717947.1. XM_006717884.1. [Q9HA72-3]
UniGeneHs.241545.

3D structure databases

ProteinModelPortalQ9HA72.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000260743.

Protein family/group databases

TCDB1.A.84.1.2. the calcium homeostasis modulator ca(2+) channel (calhm-c) family.

Polymorphism databases

DMDM67461081.

Proteomic databases

PaxDbQ9HA72.
PRIDEQ9HA72.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000260743; ENSP00000260743; ENSG00000138172. [Q9HA72-1]
ENST00000369788; ENSP00000358803; ENSG00000138172. [Q9HA72-1]
ENST00000393235; ENSP00000376927; ENSG00000138172. [Q9HA72-2]
GeneID51063.
KEGGhsa:51063.
UCSCuc001kxa.3. human. [Q9HA72-1]
uc001kxc.3. human. [Q9HA72-3]
uc001kxd.1. human. [Q9HA72-2]

Organism-specific databases

CTD51063.
GeneCardsGC10M105206.
HGNCHGNC:23493. CALHM2.
HPAHPA014706.
MIM612235. gene.
neXtProtNX_Q9HA72.
PharmGKBPA162380963.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG68441.
HOGENOMHOG000294134.
HOVERGENHBG057802.
InParanoidQ9HA72.
OMAQEAYWAQ.
OrthoDBEOG7J4474.
PhylomeDBQ9HA72.
TreeFamTF329085.

Gene expression databases

BgeeQ9HA72.
CleanExHS_CALHM2.
GenevestigatorQ9HA72.

Family and domain databases

ProtoNetSearch...

Other

ChiTaRSCALHM2. human.
GenomeRNAi51063.
NextBio53655.
PROQ9HA72.
SOURCESearch...

Entry information

Entry nameCAHM2_HUMAN
AccessionPrimary (citable) accession number: Q9HA72
Secondary accession number(s): D3DR94, O95893, Q6ZUV9
Entry history
Integrated into UniProtKB/Swiss-Prot: June 7, 2005
Last sequence update: March 1, 2001
Last modified: July 9, 2014
This is version 96 of the entry and version 1 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 10

Human chromosome 10: entries, gene names and cross-references to MIM