SPIDR - scaffold protein involved in DNA repair Gene

Also Known as ODG9; KIAA0146

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 23514

About SPIDR

Cytogenetic location: 8q11.21 Genomic coordinates (GRCh38): 8:47,260,878-47,736,306 (from NCBI)

This gene has 28 transcripts (splice variants), 173 orthologues and is associated with 2 phenotypes. Ubiquitous expression in lung (RPKM 8.1), thyroid (RPKM 7.9) and 25 other tissues.

Summary

Involved in several processes, including cellular response to camptothecin; cellular response to hydroxyurea; and regulation of double-strand break repair. Located in nuclear chromosome and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]

SPIDR Products (33)

mRNA Protein Name
NM_001080394.4 NP_001073863.1 DNA repair-scaffolding protein isoform 1
NM_001282916.1 NP_001269845.1 DNA repair-scaffolding protein isoform 2
NM_001282919.1 NP_001269848.1 DNA repair-scaffolding protein isoform 3
NM_001352931.1 NP_001339860.1 DNA repair-scaffolding protein isoform 4
NM_001352932.1 NP_001339861.1 DNA repair-scaffolding protein isoform 5
NM_001352933.1 NP_001339862.1 DNA repair-scaffolding protein isoform 6
NM_001352934.1 NP_001339863.1 DNA repair-scaffolding protein isoform 8
NM_001352935.1 NP_001339864.1 DNA repair-scaffolding protein isoform 9
NM_001352936.1 NP_001339865.1 DNA repair-scaffolding protein isoform 10
NM_001352937.1 NP_001339866.1 DNA repair-scaffolding protein isoform 11
NM_001352938.1 NP_001339867.1 DNA repair-scaffolding protein isoform 12
NM_001352939.1 NP_001339868.1 DNA repair-scaffolding protein isoform 12
NM_001352940.1 NP_001339869.1 DNA repair-scaffolding protein isoform 12
NM_001352941.1 NP_001339870.1 DNA repair-scaffolding protein isoform 13
NM_001352942.1 NP_001339871.1 DNA repair-scaffolding protein isoform 14
NM_001352943.1 NP_001339872.1 DNA repair-scaffolding protein isoform 15
NM_001352944.1 NP_001339873.1 DNA repair-scaffolding protein isoform 16
NM_001352945.1 NP_001339874.1 DNA repair-scaffolding protein isoform 17
NM_001352946.1 NP_001339875.1 DNA repair-scaffolding protein isoform 18
NM_001352947.1 NP_001339876.1 DNA repair-scaffolding protein isoform 18
NM_001352948.1 NP_001339877.1 DNA repair-scaffolding protein isoform 18
NM_001352949.1 NP_001339878.1 DNA repair-scaffolding protein isoform 19
NM_001352950.1 NP_001339879.1 DNA repair-scaffolding protein isoform 20
NM_001352951.1 NP_001339880.1 DNA repair-scaffolding protein isoform 21
NM_001352952.1 NP_001339881.1 DNA repair-scaffolding protein isoform 22
NM_001352953.1 NP_001339882.1 DNA repair-scaffolding protein isoform 22
NM_001352955.1 NP_001339884.1 DNA repair-scaffolding protein isoform 22
NM_001352956.1 NP_001339885.1 DNA repair-scaffolding protein isoform 22
NM_001352957.1 NP_001339886.1 DNA repair-scaffolding protein isoform 23
NM_001352958.1 NP_001339887.1 DNA repair-scaffolding protein isoform 24
NM_001352959.1 NP_001339888.1 DNA repair-scaffolding protein isoform 25
NM_001352960.1 NP_001339889.1 DNA repair-scaffolding protein isoform 26
NM_001352961.1 NP_001339890.1 DNA repair-scaffolding protein isoform 7
Molecular Function GO Annotation Evidence Verweise Source
enables protein binding IPI
IPI: Inferred from physical interaction
23509288 GOA
Biological Process GO Annotation Evidence Verweise Source
involved in DNA damage response IDA
IDA: Inferred from direct assay
23509288 GOA
involved in cellular response to camptothecin IDA
IDA: Inferred from direct assay
23509288 GOA
involved in cellular response to hydroxyurea IDA
IDA: Inferred from direct assay
23509288 GOA
involved in cellular response to ionizing radiation IDA
IDA: Inferred from direct assay
23509288 GOA
involved in double-strand break repair via homologous recombination IMP
IMP: Inferred from mutant phenotype
23509288 GOA
involved in positive regulation of double-strand break repair IMP
IMP: Inferred from mutant phenotype
23509288 GOA
involved in positive regulation of protein-containing complex assembly IDA
IDA: Inferred from direct assay
23509288 GOA
involved in regulation of double-strand break repair via homologous recombination IDA
IDA: Inferred from direct assay
23754376 GOA
involved in regulation of establishment of protein localization to chromosome IDA
IDA: Inferred from direct assay
23509288 GOA
Cellular Component GO Annotation Evidence Verweise Source
located in nuclear chromosome IDA
IDA: Inferred from direct assay
23509288 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SPIDR Protein Structure

DUF4502

DUF4502: Domain of unknown function (DUF4502) (11 - 369)

DUF4503

DUF4503: Domain of unknown function (DUF4503) (521 - 909)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 915 a.a.
Protein Preferred Names Protein Names

DNA repair-scaffolding protein

  • scaffolding protein involved in DNA repair

SPIDR Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Verweise
Intra
SPIDR Q14159 RAD51 Homo sapiens Q06609 23509288
Intra
SPIDR Q14159 SWSAP1 Homo sapiens Q6NVH7
Y3H
31665741
Intra
SPIDR Q14159 ZSWIM7 Homo sapiens Q19AV6
Y3H
31665741
Intra
SPIDR Q14159 BLM Homo sapiens P54132 23509288
Intra
SPIDR Q14159 BLM Homo sapiens P54132 23509288
Intra
SPIDR Q14159 BLM Homo sapiens P54132 23509288
Intra
SPIDR Q14159 FIGNL1 Homo sapiens Q6PIW4
Y3H
31665741
Intra
SPIDR Q14159 FIGNL1 Homo sapiens Q6PIW4
Y2H
31665741
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Ovarian Dysgenesis 9
  • ODG9

46,Xx Sex Reversal 1
  • 46,Xx Testicular Disorder Of Sex Development

  • 46,Xx Gonadal Dysgenesis

  • SRXX1

  • 46,Xx Gonadal Dysgenesis, Complete, Sry-Positive

  • 46,Xx Testicular Dsd

  • Xx Male Syndrome

  • 46,Xx Complete Gonadal Dysgenesis

  • 46,Xx Pure Gonadal Dysgenesis

  • Follicular Stimulating Hormone-Resistant Ovaries

  • Hypergonadotropic Ovarian Dysgenesis

  • Ovotesticular Disorder Of Sex Development

  • 46,Xx Sex Reversal, Sry-Positive

  • Xx Male, Sry-Positive

  • 46xx Sex Reversal 1

  • 46, Xx Gonadal Sex Reversal

  • Xx Sex Reversal

  • 46,Xx Ovarian Dysgenesis

  • Fsh-Ro

  • Xx Female Gonadal Dysgenesis

  • Xx-Gd

  • 46,Xx Ovotesticular Disorder Of Sex Development

  • 46,Xx Ovotesticular Dsd

  • De La Chapelle Syndrome

  • Xx, Male Syndrome

  • 46,Xx Gonadal Dysgenesis Complete Sry-Positive

  • 46,Xx Sex Reversal Sry-Positive

  • 46,Xx True Hermaphroditism Sry-Positive

  • Ovotesticular Dsd

  • Xx Male Sry-Positive

  • Ovotesticular Disorders Of Sex Development

  • 46, Xx Testicular Disorders Of Sex Development

  • Resistant Ovary Syndrome

  • Dysgenetic Ovaries

  • Fsh-Ro - [Follicular Stimulating Hormone-Resistant Ovaries]

  • True Hermaphroditism

  • Ovotestis

  • True Hermaphrodite

Genetic Non-Acquired Premature Ovarian Failure
Uterine Hypoplasia
Gonadal Dysgenesis
  • Gonadal Dysgenesis Syndrome

  • Turner Syndrome

Fanconi Anemia, Complementation Group A
  • Fanconi Anemia

  • Fanconi Pancytopenia

  • Fanconi Anemia Complementation Group A

  • FANCA

  • Fa

  • Fanconi Panmyelopathy

  • Fanconi'S Anemia

  • Fanconi Anaemia

  • Fanconi'S Anaemia

  • Fanconi Hypoplastic Anemia

  • Estren-Dameshek Variant Of Fanconi Anemia

  • Estren-Dameshek Variant Of Fanconi Pancytopenia

  • Fanconi Anemia Estren-Dameshek Variant

  • Fanconis Anemia

Premature Menopause
  • Primary Ovarian Insufficiency

  • Premature Ovarian Failure

  • Hypergonadotropic Hypogonadism

  • Premature Ovarian Insufficiency

  • Menopause - Premature

  • Menopause Praecox

  • Menopause Premature

  • Menopause, Premature

  • Female Hypergonadotropic Hypogonadism

  • Hypergonadotrophic Ovarian Failure

  • Primary Female Hypogonadism

  • Pof - [Premature Ovarian Failure]

  • Ovarian Failure

  • Ovarian Secretion Suppression

  • Ovary Hyposecretion

  • Ovary Secretion Deficiency

  • Premature Menopause Nos

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
Canis familiaris SPIDR VGNC VGNC:46741
Mus musculus SPIDR MGD MGI:1924834
Bos taurus SPIDR VGNC VGNC:35216
Rattus norvegicus SPIDR RGD RGD:1566036
Felis catus SPIDR VGNC VGNC:81682
Macaca mulatta SPIDR VGNC VGNC:84118
Others SPIDR NCBI