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Gene id 8603
Gene Summary    Protein Summary    Diseases    PubMed    

Gene Summary

Gene Symbol FAM193A   Gene   UCSC   Ensembl
Aliases C4orf8, RES4-22
Gene name family with sequence similarity 193 member A
Alternate names protein FAM193A,
Gene location 4p16.3 (2535374: 2732574)     Exons: 4     NC_000004.12

Protein Summary

Protein general information P78312  

Name: Protein FAM193A (Protein IT14)

Length: 1265  Mass: 139988

Sequence MKVRLLRQLSAAAKVKAPSGLQGPPQAHQFISLLLEEYGALCQAARSISTFLGTLENEHLKKFQVTWELHNKHLF
ENLVFSEPLLQSNLPALVSQIRLGTTTHDTCSEDTYSTLLQRYQRSEEELRRVAEEWLECQKRIDAYVDEQMTMK
TKQRMLTEDWELFKQRRFIEEQLTNKKAVTGENNFTDTMRHMLSSRLSMPDCPNCNYRRRCACDDCSLSHILTCG
IMDPPVTDDIHIHQLPLQVDPAPDYLAERSPPSVSSASSGSGSSSPITIQQHPRLILTDSGSAPTFCSDDEDVAP
LSAKFADIYPLSNYDDTEVVANMNGIHSELNGGGENMALKDESPQISSTSSSSSEADDEEADGESSGEPPGAPKE
DGVLGSRSPRTEESKADSPPPSYPTQQAEQAPNTCECHVCKQEASGLTPSAMTAGALPPGHQFLSPEKPTHPALH
LYPHIHGHVPLHTVPHLPRPLIHPTLYATPPFTHSKALPPAPVQNHTNKHQVFNASLQDHIYPSCFGNTPEWNSS
KFISLWGSEVMNDKNWNPGTFLPDTISGSEILGPTLSETRPEALPPPSSNETPAVSDSKEKKNAAKKKCLYNFQD
AFMEANKVVMATSSATSSVSCTATTVQSSNSQFRVSSKRPPSVGDVFHGISKEDHRHSAPAAPRNSPTGLAPLPA
LSPAALSPAALSPASTPHLANLAAPSFPKTATTTPGFVDTRKSFCPAPLPPATDGSISAPPSVCSDPDCEGHRCE
NGVYDPQQDDGDESADEDSCSEHSSSTSTSTNQKEGKYCDCCYCEFFGHGGPPAAPTSRNYAEMREKLRLRLTKR
KEEQPKKMDQISERESVVDHRRVEDLLQFINSSETKPVSSTRAAKRARHKQRKLEEKARLEAEARAREHLHLQEE
QRRREEEEDEEEEEDRFKEEFQRLQELQKLRAVKKKKKERPSKDCPKLDMLTRNFQAATESVPNSGNIHNGSLEQ
TEEPETSSHSPSRHMNHSEPRPGLGADGDAADPVDTRDSKFLLPKEVNGKQHEPLSFFFDIMQHHKEGNGKQKLR
QTSKASSEPARRPTEPPKATEGQSKPRAQTESKAKVVDLMSITEQKREERKVNSNNNNKKQLNHIKDEKSNPTPM
EPTSPGEHQQNSKLVLAESPQPKGKNKKNKKKKGDRVNNSIDGVSLLLPSLGYNGAILAHCNLRLPGSSDCAASA
SQVVGITDDVFLPKDIDLDSVDMDETEREVEYFKRFCLDSARQTRQRLSINWSNFSLKKATFAAH
Structural information
Interpro:  IPR029717  IPR031802  IPR029719  
STRING:   ENSP00000324587
Other Databases GeneCards:  FAM193A  Malacards:  FAM193A
Associated diseases References
Cryptorchidism MIK: 28606200
Spermatogenic defects MIK: 31037746
Teratozoospermia MIK: 17327269

PubMed references

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PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
17327269 Teratozoos
permia

13 (5 controls,
8 cases)
Male infertility GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
Show abstract
17327269 Teratozoos
permia

19 (6 controls
, 13 cases)
Male infertility GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
Show abstract
28606200 Cryptorchi
dism

Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
Male infertility MeDIP-Seq
Show abstract
31037746 Spermatoge
nic defect
s

28 men with az
oospermia
Male infertility Microarray
Show abstract