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Q9HA72

- CAHM2_HUMAN

UniProt

Q9HA72 - CAHM2_HUMAN

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Protein

Calcium homeostasis modulator protein 2

Gene

CALHM2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli

Functioni

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

GO - Biological processi

  1. ion transport Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Ion channel

Keywords - Biological processi

Ion transport, Transport

Protein family/group databases

TCDBi1.A.84.1.2. the calcium homeostasis modulator ca(2+) channel (calhm-c) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Calcium homeostasis modulator protein 2
Alternative name(s):
Protein FAM26B
Gene namesi
Name:CALHM2
Synonyms:FAM26B
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 10

Organism-specific databases

HGNCiHGNC:23493. CALHM2.

Subcellular locationi

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA162380963.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 323323Calcium homeostasis modulator protein 2PRO_0000186720Add
BLAST

Proteomic databases

PaxDbiQ9HA72.
PRIDEiQ9HA72.

Expressioni

Gene expression databases

BgeeiQ9HA72.
CleanExiHS_CALHM2.
GenevestigatoriQ9HA72.

Organism-specific databases

HPAiHPA014706.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000260743.

Structurei

3D structure databases

ProteinModelPortaliQ9HA72.
ModBaseiSearch...
MobiDBiSearch...

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei21 – 4121HelicalSequence AnalysisAdd
BLAST
Transmembranei55 – 7521HelicalSequence AnalysisAdd
BLAST
Transmembranei100 – 12021HelicalSequence AnalysisAdd
BLAST
Transmembranei185 – 20521HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Sequence similaritiesi

Belongs to the FAM26 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG68441.
GeneTreeiENSGT00530000062796.
HOGENOMiHOG000294134.
HOVERGENiHBG057802.
InParanoidiQ9HA72.
OMAiQEAYWAQ.
OrthoDBiEOG7J4474.
PhylomeDBiQ9HA72.
TreeFamiTF329085.

Family and domain databases

InterProiIPR029570. CALHM2.
IPR029569. FAM26.
[Graphical view]
PANTHERiPTHR32261. PTHR32261. 1 hit.
PTHR32261:SF3. PTHR32261:SF3. 1 hit.
PfamiPF14798. Ca_hom_mod. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q9HA72-1) [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
MAALIAENFR FLSLFFKSKD VMIFNGLVAL GTVGSQELFS VVAFHCPCSP
60 70 80 90 100
ARNYLYGLAA IGVPALVLFI IGIILNNHTW NLVAECQHRR TKNCSAAPTF
110 120 130 140 150
LLLSSILGRA AVAPVTWSVI SLLRGEAYVC ALSEFVDPSS LTAREEHFPS
160 170 180 190 200
AHATEILARF PCKENPDNLS DFREEVSRRL RYESQLFGWL LIGVVAILVF
210 220 230 240 250
LTKCLKHYCS PLSYRQEAYW AQYRANEDQL FQRTAEVHSR VLAANNVRRF
260 270 280 290 300
FGFVALNKDD EELIANFPVE GTQPRPQWNA ITGVYLYREN QGLPLYSRLH
310 320
KWAQGLAGNG AAPDNVEMAL LPS
Length:323
Mass (Da):36,175
Last modified:March 1, 2001 - v1
Checksum:i20A4BC58F6763926
GO
Isoform 2 (identifier: Q9HA72-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     186-218: LFGWLLIGVVAILVFLTKCLKHYCSPLSYRQEA → VRSCAKGSSSSLVVAGERSGDGLVLKLGLVLRG
     219-323: Missing.

Note: No experimental confirmation available.

Show »
Length:218
Mass (Da):23,718
Checksum:i569EBDD40662D5D5
GO
Isoform 3 (identifier: Q9HA72-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     181-196: RYESQLFGWLLIGVVA → SSLDGCSSAWWPSWCS
     197-323: Missing.

Note: No experimental confirmation available.

Show »
Length:196
Mass (Da):21,542
Checksum:i1523996B86D6DA74
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti136 – 1361V → G.
Corresponds to variant rs2232660 [ dbSNP | Ensembl ].
VAR_053084
Natural varianti194 – 1941V → M.
Corresponds to variant rs2232662 [ dbSNP | Ensembl ].
VAR_033924

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei181 – 19616RYESQ…IGVVA → SSLDGCSSAWWPSWCS in isoform 3. 1 PublicationVSP_013856Add
BLAST
Alternative sequencei186 – 21833LFGWL…YRQEA → VRSCAKGSSSSLVVAGERSG DGLVLKLGLVLRG in isoform 2. 1 PublicationVSP_013853Add
BLAST
Alternative sequencei197 – 323127Missing in isoform 3. 1 PublicationVSP_013855Add
BLAST
Alternative sequencei219 – 323105Missing in isoform 2. 1 PublicationVSP_013854Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS7549.1. [Q9HA72-1]
RefSeqiNP_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]
UniGeneiHs.241545.

Genome annotation databases

EnsembliENST00000260743; ENSP00000260743; ENSG00000138172. [Q9HA72-1]
ENST00000369788; ENSP00000358803; ENSG00000138172. [Q9HA72-1]
GeneIDi51063.
KEGGihsa:51063.
UCSCiuc001kxa.3. human. [Q9HA72-1]
uc001kxc.3. human. [Q9HA72-3]
uc001kxd.1. human. [Q9HA72-2]

Polymorphism databases

DMDMi67461081.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS7549.1. [Q9HA72-1 ]
RefSeqi NP_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 ]
UniGenei Hs.241545.

3D structure databases

ProteinModelPortali Q9HA72.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000260743.

Protein family/group databases

TCDBi 1.A.84.1.2. the calcium homeostasis modulator ca(2+) channel (calhm-c) family.

Polymorphism databases

DMDMi 67461081.

Proteomic databases

PaxDbi Q9HA72.
PRIDEi Q9HA72.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000260743 ; ENSP00000260743 ; ENSG00000138172 . [Q9HA72-1 ]
ENST00000369788 ; ENSP00000358803 ; ENSG00000138172 . [Q9HA72-1 ]
GeneIDi 51063.
KEGGi hsa:51063.
UCSCi uc001kxa.3. human. [Q9HA72-1 ]
uc001kxc.3. human. [Q9HA72-3 ]
uc001kxd.1. human. [Q9HA72-2 ]

Organism-specific databases

CTDi 51063.
GeneCardsi GC10M105206.
HGNCi HGNC:23493. CALHM2.
HPAi HPA014706.
MIMi 612235. gene.
neXtProti NX_Q9HA72.
PharmGKBi PA162380963.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG68441.
GeneTreei ENSGT00530000062796.
HOGENOMi HOG000294134.
HOVERGENi HBG057802.
InParanoidi Q9HA72.
OMAi QEAYWAQ.
OrthoDBi EOG7J4474.
PhylomeDBi Q9HA72.
TreeFami TF329085.

Miscellaneous databases

ChiTaRSi CALHM2. human.
GenomeRNAii 51063.
NextBioi 53655.
PROi Q9HA72.
SOURCEi Search...

Gene expression databases

Bgeei Q9HA72.
CleanExi HS_CALHM2.
Genevestigatori Q9HA72.

Family and domain databases

InterProi IPR029570. CALHM2.
IPR029569. FAM26.
[Graphical view ]
PANTHERi PTHR32261. PTHR32261. 1 hit.
PTHR32261:SF3. PTHR32261:SF3. 1 hit.
Pfami PF14798. Ca_hom_mod. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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.
    , 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. 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. Cited for: IDENTIFICATION.

Entry informationi

Entry nameiCAHM2_HUMAN
AccessioniPrimary (citable) accession number: Q9HA72
Secondary accession number(s): D3DR94, O95893, Q6ZUV9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 7, 2005
Last sequence update: March 1, 2001
Last modified: October 29, 2014
This is version 99 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 10
    Human chromosome 10: 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