FAAP24 - FA core complex associated protein 24 Gene

Also Known as C19orf40

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 91442

About FAAP24

Cytogenetic location: 19q13.11 Genomic coordinates (GRCh38): 19:32,972,242-32,978,229 (from NCBI)

This gene has 9 transcripts (splice variants) and 213 orthologues. Broad expression in testis (RPKM 3.8), lymph node (RPKM 1.3) and 23 other tissues.

Summary

FAAP24 is a component of the Fanconi anemia (FA) core complex (see MIM 227650), which plays a crucial role in DNA damage response (Ciccia et al., 2007 [PubMed 17289582]).[supplied by OMIM, Mar 2008]

FAAP24 Products (2)

mRNA Protein Name
NM_001300978.2 NP_001287907.1 Fanconi anemia core complex-associated protein 24 isoform 2
NM_152266.5 NP_689479.1 Fanconi anemia core complex-associated protein 24 isoform 1

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Verweise Source
enables chromatin binding IDA
IDA: Inferred from direct assay
20347429 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
17289582 GOA
Biological Process GO Annotation Evidence Verweise Source
involved in interstrand cross-link repair IDA
IDA: Inferred from direct assay
20347429 GOA
Cellular Component GO Annotation Evidence Verweise Source
part of FANCM-MHF complex IPI
IPI: Inferred from physical interaction
20347429 GOA
part of Fanconi anaemia nuclear complex IDA
IDA: Inferred from direct assay
20347428 GOA
located in chromatin IDA
IDA: Inferred from direct assay
20347429 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

FAAP24 Protein Structure

HHH_2

HHH_2: Helix-hairpin-helix motif (166 - 214)

  • 0
  • 100
  • 200
  • 215 a.a.
Protein Preferred Names Protein Names

Fanconi anemia core complex-associated protein 24

  • Fanconi anemia core complex associated protein 24

FAAP24 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Verweise
Intra
FAAP24 Q9BTP7 FANCM Homo sapiens Q8IYD8
Pull Down
17289582
Intra
FAAP24 Q9BTP7 FANCM Homo sapiens Q8IYD8
Gal4 VP16 Complement
17289582
Intra
FAAP24 Q9BTP7 FANCM Homo sapiens Q8IYD8
Anti Bait CoIP
17289582
Intra
FAAP24 Q9BTP7 FANCM Homo sapiens Q8IYD8
Anti Tag CoIP
33961781
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Fanconi Anemia, Complementation Group O

  • Fanconi Anemia Complementation Group O

  • FANCO
Fanconi Anemia, Complementation Group T

  • Fanconi Anemia Complementation Group T

  • FANCT
Fanconi Anemia, Complementation Group Q

  • Fanconi Anemia Complementation Group Q

  • FANCQ
Fanconi Anemia, Complementation Group R

  • Fanconi Anemia Complementation Group R

  • FANCR
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
Fanconi Anemia, Complementation Group I

  • Fanconi Anemia Complementation Group I

  • FANCI
Cerebrooculofacioskeletal Syndrome

  • Cerebro-Oculo-Facio-Skeletal Syndrome

  • Cofs Syndrome

  • Pena-Shokeir Syndrome Type 2

  • Pena Shokeir Syndrome Type 2
Fanconi Anemia, Complementation Group D2

  • Fanconi Anemia Complementation Group D2

  • FANCD2

  • Fad2

  • Fa4

  • Fancd

  • Fanconi Pancytopenia Type 4

  • Fanconi Anemia, Complementation Group D

  • Fanconi Pancytopenia, Type 4

  • Facd

  • Fanconi Anemia Complementation Group D
Xeroderma Pigmentosum, Variant Type

  • Xeroderma Pigmentosum

  • XPV

  • Xeroderma Pigmentosum Variant Type

  • Xeroderma Pigmentosum With Normal Dna Repair Rates

  • Photosensitivity With Defective Dna Synthesis

  • Xp

  • De Sanctis-Cacchione Syndrome

  • Desanctis-Cacchione Syndrome

  • Xeroderma Pigmentosa

  • Xerodermic Idiocy

  • Xeroderma Pigmentosum Variant

  • Xp - [Xeroderma Pigmentosum]

  • Atrophoderma Pigmentosum
Interstitial Nephritis, Karyomegalic

  • Karyomegalic Interstitial Nephritis

  • KMIN

  • Kin

  • Systemic Karyomegaly

  • Karyomegalic Tubulointerstitial Nephritis

  • Ktn
Aplastic Anemia

  • Aplastic Anemia, Susceptibility To

  • Anemia Aplastic

  • Idiopathic Aplastic Anemia

  • Secondary Aplastic Anemia

  • Idiopathic Bone Marrow Failure

  • Aplastic Anemia Idiopathic

  • AA

  • Anemia, Aplastic

  • Aplastic Anemia, Idiopathic

  • Erythroid Aplasia

  • Aa - [Aplastic Anaemia]

  • Haematopoietic Aplasia

  • Aleukia Haemorrhagica

  • Anaemia Due To Decreased Red Cell Production

  • Aplasia Bone Marrow

  • Aplastic Bone Marrow

  • Hypoplastic Anaemia Nos

  • Myeloid Bone Marrow Aplasia

  • Pancytopenia

  • Panhaematopenia

  • Hypoproliferative Anaemia

  • Medullary Hypoplasia

  • Red Blood Cells Hypoplastic Anaemia

  • Panmyelophthisis

  • Panhemocytopenia

  • Refractive Hypoproliferative Anaemia

  • Toxic Anaemia

  • Toxic Aplastic Anaemia

  • Aplastic Anaemia Due To Toxic Cause

  • Idiopathic Aplastic Anaemia Nos
Seckel Syndrome

  • Microcephalic Primordial Dwarfism

  • Bird-Headed Dwarfism

  • Harper'S Syndrome

  • Virchow-Seckel Dwarfism

  • Nanocephalic Dwarfism

  • Sckl

  • Seckel-Type Dwarfism
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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)
Art. -Nr. Produktname
Wirkung
Reinheit
Rare Diseases
HY-RS04655 FAAP24 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS21125 Faap24 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus FAAP24 VGNC VGNC:62033
Mus musculus FAAP24 MGD MGI:2142208
Canis familiaris FAAP24 VGNC VGNC:40557
Rattus norvegicus FAAP24 RGD RGD:1564719
Bos taurus FAAP24 VGNC VGNC:28694
Macaca mulatta FAAP24 VGNC VGNC:72388
Others FAAP24 NCBI