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Gene id 128954
Gene Summary    Protein Summary    Diseases    PubMed    

Gene Summary
Gene Symbol GAB4   Gene   UCSC   Ensembl
Gene name GRB2 associated binding protein family member 4
Alternate names GRB2-associated-binding protein 4, GRB2-associated binder 2-like protein, GRB2-associated binder 4, growth factor receptor bound protein 2-associated protein 4,
Gene location 22q11.1 (17008280: 16961935)     Exons: 13     NC_000022.11
OMIM 616830

Protein Summary
Protein general information Q2WGN9  

Name: GRB2 associated binding protein 4 (GRB2 associated binder 2 like) (GAB2 like) (GRB2 associated binder 4) (GRB2 associated binding protein 2 like) (Growth factor receptor bound protein 2 associated protein 4)

Length: 574  Mass: 62367

Sequence MSLPSPSPSRELCPPDPAFAPLSSWPGSGPAGGSTRSGHVLYSGWLRKSPPEKKLRLFAWRKRWFILRRGQTSSD
PDVLEYYKNDGSKKPLRTINLNLCEQLDVDVTLNFNKKEIQKGYMFDIKTSERTFYLVAETREDMNEWVQSICQI
CGFRQEESTGFLGNISSASHGLCSSPAEPSCSHQHLPQEQEPTSEPPVSHCVPPTWPIPAPPGCLRSHQHASQRA
EHARSASFSQGSEAPFIMRRNTAMQNLAQHSGYSVDGVSGHIHGFHSLSKPSQHNAEFRGSTHRIPWSLASHGHT
RGSLTGSEADNEASSGKYTQHGGGNASRPAESMHEGVCSFLPGRTLVGLSDSIASEGSCVPMNPGSPTLPAVKQA
GDDSQGVCIPVGSCLVRFDLLGSPLTELSMHQDLSQGHEVQLPPVNRSLKPNQKANPTPPNLRNNRVINELSFKP
PVTEPWSGTSHTFDSSSSQHPISTQSITNTDSEDSGERYLFPNPASAFPVSGGTSSSAPPRSTGNIHYAALDFQP
SKPSIGSVTSGKKVDYVQVDLEKTQALQKTMHEQMCLRQSSEPPRGAKL
Structural information
Protein Domains
 (39..15-)
(/note="PH-)
(/evidence="ECO:0000255|PROSITE-ProRule:PRU00145"-)
Interpro:  IPR011993  IPR001849  
Prosite:   PS50003
STRING:   ENSP00000383431
Other Databases GeneCards:  GAB4  Malacards:  GAB4

Diseases

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Associated diseases References
Cryptorchidism MIK: 28606200
Unexplained infertility MIK: 25753583

PubMed references

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PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
28606200 Cryptorchi
dism
Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
 Male infertility MeDIP-Seq
 Show abstract
28606200 Cryptorchi
dism
Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
 Male infertility MeDIP-Seq
 Show abstract
28606200 Cryptorchi
dism
Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
 Male infertility MeDIP-Seq
 Show abstract
28606200 Cryptorchi
dism
Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
 Male infertility MeDIP-Seq
 Show abstract
25753583 Unexplaine
d infertil
ity
46 (17 fertile
men, 29 male pa
tients)
 Male infertility Microarray
 Show abstract