Male Infertility Database

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Gene id

27127

Gene Summary SNPs KEGG pathways Diseases PubMed

Gene Summary

Gene Symbol

SMC1B Gene UCSC Ensembl

Aliases

SMC1BETA, SMC1L2

Gene name

structural maintenance of chromosomes 1B

Alternate names

structural maintenance of chromosomes protein 1B, SMC protein 1B, SMC1 (structural maintenance of chromosomes 1, yeast)-like 1, SMC1 structural maintenance of chromosomes 1-like 2, mitosis-specific chromosome segregation protein like protein beta,

Gene location

22q13.31 (45413670: 45344062) Exons: 26 NC_000011.10

Gene summary(Entrez)

SMC1L2 belongs to a family of proteins required for chromatid cohesion and DNA recombination during meiosis and mitosis (3:Revenkova et al., 2001 [PubMed 11564881]).[supplied by OMIM, Mar 2008]

OMIM

608685

SNPs

rs5764698

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

NC_000022.11   g.45354103G>C
NC_000022.11   g.45354103G>T
NC_000022.10   g.45749983G>C
NC_000022.10   g.45749983G>T
NM_148674.5   c.3148C>G
NM_148674.5   c.3148C>A
NM_148674.4   c.3148C>G
NM_148674.4   c.3148C>A
NM_148674.3   c.3148C>G
NM_148674.3   c.3148C>A
XR_244368.

KEGG pathways

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Pathway id	Pathway name
hsa04110	Cell cycle
hsa04114	Oocyte meiosis
hsa04114	Oocyte meiosis
hsa04110	Cell cycle

Diseases

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Associated diseases	References
Head and neck cancer	GAD: 20819778
Oligozoospermia	GAD: 20378615
Male subfertility	MIK: 28566207
Azoospermia	GAD: 20378615
Cryptorchidism	MIK: 28606200
Male sterility	MIK: 19491376
Male subfertility	MIK: 28566207
Oligozoospermia	MIK: 20378615
Azoospermia	MIK: 20378615
Teratozoospermia	MIK: 17327269

PubMed references

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PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
28566207	Male subfe rtility	Methylation studies		108 (21 proven fertile "contro ls", and 57 sub fertile "cases" )	Male infertility		Show abstract
20378615	Oligozoosp ermia or a zoospermia	rs5764698	Europea n	442 (158 normos permic controls , 63 moderately oligozoospermi c samples, 141 severe oligozoo spermic samples and 80 non-obs tructed azoospe rmic samples)	Male infertility	GWAS	Show abstract
17327269	Teratozoos permia			13 (5 controls, 8 cases)	Male infertility	GSE6967 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
19491376	Male steri lity				Male infertility		Show abstract

Male Infertility knowledgebase

A repository with genes crucial for male fertility

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Gene Summary

SNPs

KEGG pathways

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Diseases

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PubMed references

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Male Infertility knowledgebase

A repository with genes crucial for male fertility

Search Result

Gene Summary

SNPs

KEGG pathways Expand All | Collapse All

Expand All | Collapse All

Diseases Expand All | Collapse All

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PubMed references

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KEGG pathways

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Diseases

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