1. Gene
  2. CCDC103 - coiled-coil domain containing 103 Gene

CCDC103 - coiled-coil domain containing 103 Gene

Homo sapiens

Also known as SMH; PR46b; CILD17

Gene ID: 388389 | Gene type: protein coding

About CCDC103

Cytogenetic location: 17q21.31 Genomic coordinates (GRCh38): 17:44,899,729-44,905,390 (from NCBI)

This gene has 5 transcripts (splice variants), 150 orthologues and is associated with 3 phenotypes. Biased expression in testis (RPKM 12.6), brain (RPKM 2.7) and 7 other tissues.

Summary

This gene encodes a protein that contains a coiled-coil domain. [provided by RefSeq, Apr 2012]

CCDC103 Products(6)

mRNA Protein Name
NM_001258395.2 NP_001245324.1 coiled-coil domain-containing protein 103 isoform 1
NM_001258396.2 NP_001245325.1 coiled-coil domain-containing protein 103 isoform 1
NM_001258397.3 NP_001245326.1 coiled-coil domain-containing protein 103 isoform 2
NM_001258398.3 NP_001245327.1 coiled-coil domain-containing protein 103 isoform 3
NM_001258399.2 NP_001245328.1 coiled-coil domain-containing protein 103 isoform 4
NM_213607.3 NP_998772.1 coiled-coil domain-containing protein 103 isoform 1

CCDC103 Protein Structure

RPAP3_C

RPAP3_C: Potential Monad-binding region of RPAP3 (97 - 189)

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

coiled-coil domain-containing protein 103

Related Diseases

Diseases Alias
Ciliary Dyskinesia, Primary, 17

CILD17

Primary Ciliary Dyskinesia 17

Primary Ciliary Dyskinesia 17 With Or Without Situs Inversus

Ciliary Dyskinesia, Primary, 17, With Or Without Situs Inversus

Ics17

Immotile Cilia Syndrome 17

Dyskinesia, Ciliary, Primary, 17

Dextrocardia With Situs Inversus

Situs Inversus Totalis

Complete Situs Inversus

Complete Situs Inversus Viscerum

Situs Inversus

Primary Ciliary Dyskinesia

Immotile Cilia Syndrome

Kartagener Syndrome

Dextrocardia Bronchiectasis And Sinusitis

Pcd

Ciliary Motility Disorders

Ciliary Motility Disorder

Immotile Ciliary Syndrome

Ciliary Dyskinesia Primary

Ics

Polynesian Bronchiectasis

Dextrocardia-Bronchiectasis-Sinusitis Syndrome

Immotile Cilia Syndrome, Kartagener Type

Primary Ciliary Dyskinesia And Situs Inversus

Primary Ciliary Dyskinesia, Kartagener Type

Siewert Syndrome

Dyskinesia, Ciliary, Primary

Situs Inversus

Situs Inversus Viscerum

Laterality Sequence

Complete Transposition

Siv

Chromosome 17q12 Duplication Syndrome

17q12 Microduplication Syndrome

Trisomy 17q12

17q12 Duplication

17q12 Microduplication

Dup(17)(Q12)

Recurrent Duplication Of 17q12

17q12 Duplication Syndrome

17q12 Recurrent Duplication

Kartagener Syndrome

Kartagener'S Syndrome

Stromme Syndrome

Jejunal Atresia With Microcephaly And Ocular Anomalies

Apple Peel Syndrome With Microcephaly And Ocular Anomalies

STROMS

Cild31

Lethal Fetal Brain Malformation-Duodenal Atresia-Bilateral Renal Hypoplasia Syndrome

Ciliary Dyskinesia, Primary, 31, Formerly

Cild31, Formerly

Primary Ciliary Dyskinesia 31

Apple-Peel Intestinal Atresia-Ocular Anomalies-Microcephaly Syndrome

Jejunal Atresia-Microcephaly-Ocular Anomalies Syndrome

Ciliary Dyskinesia, Primary, 31

Dyskinesia, Ciliary, Primary, Type 31

Ciliary Dyskinesia, Primary, 1

CILD1

Pcd

Primary Ciliary Dyskinesia 1

Kartagener Syndrome

Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus

Immotile Cilia Syndrome

Ics

Polynesian Bronchiectasis

Primary Ciliary Dyskinesia 1 With Or Without Situs Inversus

Ics1

Immotile Cilia Syndrome 1

Primary Ciliary Dyskinesia

KTGS

Dextrocardia-Bronchiectasis-Sinusitis Syndrome

Immotile Cilia Syndrome Kartagener Type

Primary Ciliary Dyskinesia Kartagener Type

Siewert Syndrome

Immotile Cilia

Dyskinesia, Ciliary, Primary, Type 1

Ciliary Motility Disorders

Ciliary Dyskinesia, Primary, 4

Primary Ciliary Dyskinesia 4

CILD4

Ciliary Dyskinesia, Primary, 4, With Or Without Situs Inversus

Primary Ciliary Dyskinesia 4 With Or Without Situs Inversus

Primary Ciliary Dyskinesia, 4

Ciliary Dyskinesia, Primary, 8

Primary Ciliary Dyskinesia 8

CILD8

Ciliary Dyskinesia, Primary, 8, With Or Without Situs Inversus

Primary Ciliary Dyskinesia 8 With Or Without Situs Inversus

Visceral Heterotaxy

Situs Ambiguus

Heterotaxia

Heterotaxy Syndrome

Heterotaxy

Lateralization Defect

Situs Ambiguous

Left Isomerism

Htx

Ivemark Syndrome

Right Isomerism

Situs Ambiguus Viscerum

Incomplete Situs Inversus

Partial Situs Inversus

Heterotaxy, Visceral

Asplenia Syndrome

Bilateral Left-Sidedness

Polysplenia Syndrome

Moller Syndrome

Chronic Maxillary Sinusitis

Chronic Antritis

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
Felis catus CCDC103 VGNC VGNC:60446
Rattus norvegicus CCDC103 RGD RGD:1562370
Canis familiaris CCDC103 VGNC VGNC:51934
Bos taurus CCDC103 VGNC VGNC:55786
Mus musculus CCDC103 MGD MGI:1920543
Macaca mulatta CCDC103 VGNC VGNC:82118