1. Gene
  2. SLF2 - SMC5-SMC6 complex localization factor 2 Gene

SLF2 - SMC5-SMC6 complex localization factor 2 Gene

Homo sapiens

Also known as C10orf6; FAM178A

Gene ID: 55719 | Gene type: protein coding

About SLF2

Cytogenetic location: 10q24.31 Genomic coordinates (GRCh38): 10:100,912,963-100,965,134 (from NCBI)

This gene has 6 transcripts (splice variants), 196 orthologues and 1 paralogue. Broad expression in testis (RPKM 12.5), ovary (RPKM 7.5) and 24 other tissues.

Summary

Enables ubiquitin protein ligase binding activity. Involved in several processes, including positive regulation of cellular component organization; positive regulation of double-strand break repair; and protein localization to site of double-strand break. Located in chromatin; nucleoplasm; and site of double-strand break. [provided by Alliance of Genome Resources, Apr 2022]

SLF2 Products(3)

mRNA Protein Name
NM_001136123.2 NP_001129595.1 SMC5-SMC6 complex localization factor protein 2 isoform 2
NM_001243770.2 NP_001230699.1 SMC5-SMC6 complex localization factor protein 2 isoform 3
NM_018121.4 NP_060591.3 SMC5-SMC6 complex localization factor protein 2 isoform 1

SLF2 Protein Structure

FAM178

FAM178: Family of unknown function, FAM178 (652 - 1031)

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  • 1173 a.a.
Protein Preferred Names Protein Names

SMC5-SMC6 complex localization factor protein 2

family with sequence similarity 178, member A

Related Diseases

Diseases Alias
Form Agnosia
Alveoli Adenoma

Alveolar Adenoma

Adenoma Of Alveoli

Adenoma Of The Alveoli

Bronchial Benign Neoplasm

Bronchus Neoplasm

Neoplasm Of Bronchus

Bronchial Neoplasms

Bronchial Neoplasm

Papillorenal Syndrome

Renal Coloboma Syndrome

Coloboma Of Optic Nerve With Renal Disease

Renal-Coloboma Syndrome

Optic Nerve Coloboma With Renal Disease

Optic Coloboma, Vesicoureteral Reflux, And Renal Anomalies

Renal-Coloboma Syndrome With Macular Abnormalities

Congenital Anomalies Of The Kidney And Urinary Tract With Or Without Ocular Abnormalities

Cakut With Or Without Ocular Abnormalities

PAPRS

Optic Coloboma, Vesicoureteral Reflux And Renal Anomalies

Papillo-Renal Syndrome, Optic Nerve Coloboma With Renal Disease

Coloboma-Ureteral-Renal Syndrome

Oncr

Optic Nerve Coloboma Renal Syndrome

Rcs

Papillo-Renal Syndrome

Optic Coloboma Vesicoureteral Reflux And Renal Anomalies

Mitochondrial Dna Depletion Syndrome 7

Ohaha Syndrome

Infantile Onset Spinocerebellar Ataxia

Iosca

Infantile-Onset Spinocerebellar Ataxia

Spinocerebellar Ataxia 8

MTDPS7

Ophthalmoplegia, Hypotonia, Ataxia, Hypacusis, And Athetosis

Ophthalmoplegia-Hypotonia-Ataxia-Hypoacusis-Athetosis Syndrome

Sca8

Spinocerebellar Ataxia Infantile With Sensory Neuropathy

Spinocerebellar Ataxia, Infantile-Onset

Ophthalmoplegia, Hypotonia, Ataxia, Hypoacusis, And Athetosis

Spinocerebellar Ataxia, Infantile, With Sensory Neuropathy

Spinocerebellar Ataxia 8, Formerly

Sca8, Formerly

Iosca, Mitochondrial Dna Depletion Syndrome 7

Ophthalmoplegia - Hypotonia - Ataxia - Hypoacusis - Athetosis

Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form

Mtdna Depletion Syndrome, Hepatocerebrorenal Form

Mitochondrial Dna Depletion Syndrome 7 Hepatocerebral Type

Ophthalmoplegia Hypotonia Ataxia Hypoacusis And Athetosis

Pure Spinocerebellar Ataxia Japanese Type

Sca4 Pure Japanese Type

Spinocerebellar Ataxia Infantile-Onset

Mitochondrial Dna Depletion Syndrome , Type 7

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta SLF2 VGNC VGNC:106104
Rattus norvegicus SLF2 RGD RGD:1560300
Mus musculus SLF2 MGD MGI:1924968
Canis familiaris SLF2 VGNC VGNC:53013
Felis catus SLF2 VGNC VGNC:107070
Bos taurus SLF2 VGNC VGNC:34958