• Gene id: 84766

Gene Summary

• Gene Symbol: CRACR2A   Gene   UCSC   Ensembl
• Aliases: EFCAB4B
• Gene name: calcium release activated channel regulator 2A
• Alternate names: EF-hand calcium-binding domain-containing protein 4B, CRAC channel regulator 2A, CRAC regulator 2A, Ca2+ release-activated Ca2+ (CRAC) channel regulator 2A, EF-hand calcium binding domain 4B, calcium release-activated calcium channel regulator 2A,
• Gene location: 12p13.32 (3753217: 3613365)     Exons: 3     NC_000012.12
• OMIM: 614178

SNPs

rs10848911

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.3705072G>A
NC_000012.12   g.3705072G>T
NC_000012.11   g.3814238G>A
NC_000012.11   g.3814238G>T|SEQ=[G/A/T]|GENE=CRACR2A

Protein Summary

• Protein general information: Q9BSW2  
  • Name: EF hand calcium binding domain containing protein 4B (Calcium release activated calcium channel regulator 2A) (CRAC channel regulator 2A) (Calcium release activated channel regulator 2A)
  • Length: 395  
  • Mass: 45592
• Sequence:

  MAAPDGRVVSRPQRLGQGSGQGPKGSGACLHPLDSLEQKETQEQTSGQLVMLRKAQEFFQTCDAEGKGFIARKDM
  QRLHKELPLSLEELEDVFDALDADGNGYLTPQEFTTGFSHFFFSQNNPSQEDAGEQVAQRHEEKVYLSRGDEDLG
  DMGEDEEAQFRMLMDRLGAQKVLEDESDVKQLWLQLKKEEPHLLSNFEDFLTRIISQLQEAHEEKNELECALKRK
  IAAYDEEIQHLYEEMEQQIKSEKEQFLLKDTERFQARSQELEQKLLCKEQELEQLTQKQKRLEGQCTALHHDKHE
  TKAENTKLKLTNQELARELERTSWELQDAQQQLESLQQEACKLHQEKEMEVYRVTESLQREKAGLLKQLDFLRCV
  GGHWPVLRAPPRSLGSEGPV

• Structural information:
  • Protein Domains: (54..8-)
    (/note="EF-hand-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (84..11-)
    (/note="EF-hand-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448"-)
  • Interpro: IPR011992  IPR018247  IPR002048  
  • Prosite: PS00018 PS50222
  • STRING: ENSP00000409382
• Other Databases: GeneCards:  CRACR2A  Malacards:  CRACR2A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005509	calcium ion binding	IDA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0051928	positive regulation of calcium ion transport	IMP	biological process
GO:0032237	activation of store-operated calcium channel activity	IMP	biological process
GO:0002115	store-operated calcium entry	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0006816	calcium ion transport	IEA	biological process
GO:0002376	immune system process	IEA	biological process
GO:0002250	adaptive immune response	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0035580	specific granule lumen	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	HDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Azoospermia	MIK: 19478329
Oligozoospermia	MIK: 19478329
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
19478329	Azoospermia, Oligozoospermia	rs10848911	Caucasi an	53 cases	Male infertility	GWAS